#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
CSMD2	114784	broad.mit.edu	37	1	33985468	33985468	+	Silent	SNP	C	C	A			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr1:33985468C>A	ENST00000373381.4	-	69	10856	c.10680G>T	c.(10678-10680)ctG>ctT	p.L3560L		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3416						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGAAAGGCACCAGGATCGCGG	0.597																																						uc001bxm.1																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(10678-10680)ctG>ctT		Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.							42.0	42.0	42.0					1																	33985468		2203	4300	6503	SO:0001819	synonymous_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:33985468C>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.10680G>T	1.37:g.33985468C>A						CSMD2_uc001bxn.1_Silent_p.L3416L	p.L3560L	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			68	10857	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	3416					B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373381.4	37	c.10680G>T																																																																																					0.597	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		26	38	0	0	0	1	0	26	38				
HBZ	3050	broad.mit.edu	37	16	202931	202931	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr16:202931G>A	ENST00000252951.2	+	1	246	c.23G>A	c.(22-24)aGg>aAg	p.R8K		NM_005332.2	NP_005323.1	P02008	HBAZ_HUMAN	hemoglobin, zeta	8					erythrocyte maturation (GO:0043249)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	extracellular vesicular exosome (GO:0070062)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)						all_cancers(16;4.28e-07)|all_epithelial(16;2.09e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				AAGACTGAGAGGACCATCATT	0.632											OREG0003684	type=REGULATORY REGION|Gene=HBZ|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc002cft.1																			0											c.(22-24)aGg>aAg		Homo sapiens hemoglobin, zeta (HBZ), mRNA.							120.0	68.0	86.0					16																	202931		2203	4300	6503	SO:0001583	missense	3050					hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	g.chr16:202931G>A	M24173	CCDS10397.1	16p13.3	2014-05-19			ENSG00000130656	ENSG00000130656			4835	protein-coding gene	gene with protein product		142310				2649166	Standard	XM_005255287		Approved	HBZ1, HBZ-T1	uc002cft.1	P02008	OTTHUMG00000059928	ENST00000252951.2:c.23G>A	16.37:g.202931G>A	ENSP00000252951:p.Arg8Lys		OREG0003684	type=REGULATORY REGION|Gene=HBZ|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	586		p.R8K	NM_005332	NP_005323	P02008	HBAZ_HUMAN			0	78	+		all_cancers(16;4.28e-07)|all_epithelial(16;2.09e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)	8					Q6IBF6	Missense_Mutation	SNP	ENST00000252951.2	37	c.23G>A	CCDS10397.1	.	.	.	.	.	.	.	.	.	.	G	6.373	0.436923	0.12104	.	.	ENSG00000130656	ENST00000252951	D	0.92545	-3.06	4.66	2.41	0.29592	Globin-like (1);Globin, structural domain (1);	0.097389	0.64402	D	0.000002	T	0.70911	0.3278	N	0.01257	-0.925	0.20975	N	0.999817	B	0.06786	0.001	B	0.14023	0.01	T	0.63404	-0.6645	10	0.02654	T	1	-21.3797	6.4225	0.21752	0.3788:0.0:0.6212:0.0	.	8	P02008	HBAZ_HUMAN	K	8	ENSP00000252951:R8K	ENSP00000252951:R8K	R	+	2	0	HBZ	142931	1.000000	0.71417	0.984000	0.44739	0.832000	0.47134	3.809000	0.55606	0.948000	0.37687	0.655000	0.94253	AGG		0.632	HBZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133205.1	NM_005332		3	105	0	0	0	1	0	3	105				
STAT6	6778	broad.mit.edu	37	12	57490363	57490363	+	Missense_Mutation	SNP	T	T	A			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr12:57490363T>A	ENST00000300134.3	-	22	2861	c.2536A>T	c.(2536-2538)Agt>Tgt	p.S846C	STAT6_ENST00000556155.1_Missense_Mutation_p.S846C|STAT6_ENST00000537215.2_Missense_Mutation_p.S736C|STAT6_ENST00000538913.2_Missense_Mutation_p.S736C|STAT6_ENST00000454075.3_Missense_Mutation_p.S846C|STAT6_ENST00000543873.2_Missense_Mutation_p.S846C	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	846					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						GATCACCAACTGGGGTTGGCC	0.607																																						uc009zpg.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						c.(2683-2685)Agt>Tgt		Homo sapiens signal transducer and activator of transcription 6, interleukin-4 induced (STAT6), transcript variant 5, mRNA.							111.0	112.0	112.0					12																	57490363		2203	4300	6503	SO:0001583	missense	6778				regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	DNA binding|calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:57490363T>A	BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"""SH2 domain containing"""	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.2536A>T	12.37:g.57490363T>A	ENSP00000300134:p.Ser846Cys					STAT6_uc009zpe.3_Missense_Mutation_p.S846C|STAT6_uc001sna.3_Missense_Mutation_p.S846C|STAT6_uc009zpf.3_Missense_Mutation_p.S846C|STAT6_uc010srb.2_Missense_Mutation_p.S736C|STAT6_uc010src.2_Missense_Mutation_p.S736C|STAT6_uc010srd.2_Missense_Mutation_p.S736C	p.S895C	NM_001178081	NP_001171552	P42226	STAT6_HUMAN			21	2685	-			846					A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	ENST00000300134.3	37	c.2683A>T	CCDS8931.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.970303	0.74246	.	.	ENSG00000166888	ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075	D;D;D;D;D;D	0.93953	-3.04;-3.32;-3.04;-3.04;-3.32;-3.04	5.3	5.3	0.74995	.	0.000000	0.56097	D	0.000030	D	0.88448	0.6439	N	0.19112	0.55	0.34089	D	0.660508	D;D	0.56287	0.975;0.975	P;P	0.44647	0.456;0.456	D	0.92417	0.5942	10	0.87932	D	0	-0.8777	11.6407	0.51230	0.0:0.0:0.0:1.0	.	846;846	A8K4S9;P42226	.;STAT6_HUMAN	C	846;736;736;846;846;736;846	ENSP00000300134:S846C;ENSP00000445409:S736C;ENSP00000438451:S846C;ENSP00000451742:S846C;ENSP00000444530:S736C;ENSP00000401486:S846C	ENSP00000300134:S846C	S	-	1	0	STAT6	55776630	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.858000	0.55979	2.007000	0.58848	0.459000	0.35465	AGT		0.607	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	NM_003153		5	292	0	0	0	1	0	5	292				
PLAG1	5324	broad.mit.edu	37	8	57078936	57078936	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr8:57078936G>A	ENST00000316981.3	-	5	1848	c.1369C>T	c.(1369-1371)Ccc>Tcc	p.P457S	PLAG1_ENST00000423799.2_Missense_Mutation_p.P375S|PLAG1_ENST00000429357.2_Missense_Mutation_p.P457S	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	457	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Massively activates transcription.				gland morphogenesis (GO:0022612)|multicellular organism growth (GO:0035264)|negative regulation of gene expression (GO:0010629)|organ growth (GO:0035265)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			GTTTGTGGGGGGAGCTGGGAA	0.478			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma																																	uc003xsq.4				Dom	yes		8	8q12	5324	T	pleiomorphic adenoma gene 1			E	"""TCEA1, LIFR, CTNNB1, CHCHD7"""		salivary adenoma	CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	0				breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1369-1371)Ccc>Tcc		Homo sapiens pleiomorphic adenoma gene 1 (PLAG1), transcript variant 3, mRNA.							127.0	128.0	128.0					8																	57078936		2203	4300	6503	SO:0001583	missense	5324					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:57078936G>A	U65002	CCDS6165.1, CCDS47860.1	8q12	2010-07-30				ENSG00000181690		"""Zinc fingers, C2H2-type"""	9045	protein-coding gene	gene with protein product		603026				9268638	Standard	NM_002655		Approved	ZNF912	uc010lyi.3	Q6DJT9		ENST00000316981.3:c.1369C>T	8.37:g.57078936G>A	ENSP00000325546:p.Pro457Ser					PLAG1_uc003xsr.4_Missense_Mutation_p.P457S|PLAG1_uc010lyi.3_Missense_Mutation_p.P457S|PLAG1_uc010lyj.3_Missense_Mutation_p.P375S|PLAG1_uc022aur.1_Missense_Mutation_p.P375S	p.P457S	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	Epithelial(17;0.00179)|all cancers(17;0.0125)		2	1820	-		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	457			Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Massively activates transcription.		B4DLC2|Q59GH8|Q9Y4L2	Missense_Mutation	SNP	ENST00000316981.3	37	c.1369C>T	CCDS6165.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.460762	0.63513	.	.	ENSG00000181690	ENST00000316981;ENST00000423799;ENST00000429357	T;T;T	0.12984	2.63;3.33;2.63	6.03	6.03	0.97812	.	0.163320	0.56097	D	0.000040	T	0.24699	0.0599	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.04708	-1.0932	10	0.19590	T	0.45	-22.8173	20.5666	0.99351	0.0:0.0:1.0:0.0	.	457	Q6DJT9	PLAG1_HUMAN	S	457;375;457	ENSP00000325546:P457S;ENSP00000404067:P375S;ENSP00000416537:P457S	ENSP00000325546:P457S	P	-	1	0	PLAG1	57241490	1.000000	0.71417	0.783000	0.31826	0.991000	0.79684	6.143000	0.71756	2.854000	0.98071	0.655000	0.94253	CCC		0.478	PLAG1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378212.1	NM_002655		4	189	0	0	0	1	0	4	189				
SUPT6H	6830	broad.mit.edu	37	17	27024968	27024968	+	Silent	SNP	C	C	T			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr17:27024968C>T	ENST00000314616.6	+	32	4651	c.4368C>T	c.(4366-4368)acC>acT	p.T1456T	SUPT6H_ENST00000347486.4_Silent_p.T1456T	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1456					chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					AGAAGCCCACCTTCATCCCTT	0.522																																						uc010crt.3																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(4366-4368)acC>acT		Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.							100.0	95.0	97.0					17																	27024968		2203	4300	6503	SO:0001819	synonymous_variant	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity	g.chr17:27024968C>T	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.4368C>T	17.37:g.27024968C>T						SUPT6H_uc002hby.3_Silent_p.T1456T	p.T1456T	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN			32	4560	+	Lung NSC(42;0.00431)		1456					A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Silent	SNP	ENST00000314616.6	37	c.4368C>T	CCDS32596.1																																																																																				0.522	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		27	60	0	0	0	1	0	27	60				
IGFBP7	3490	broad.mit.edu	37	4	57976131	57976131	+	Silent	SNP	G	G	A			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr4:57976131G>A	ENST00000295666.4	-	1	420	c.387C>T	c.(385-387)agC>agT	p.S129S	IGFBP7-AS1_ENST00000499667.2_RNA|IGFBP7_ENST00000537922.1_Silent_p.S129S|IGFBP7-AS1_ENST00000508328.1_RNA	NM_001553.2	NP_001544.1	Q16270	IBP7_HUMAN	insulin-like growth factor binding protein 7	129	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				cell adhesion (GO:0007155)|cellular response to hormone stimulus (GO:0032870)|embryo implantation (GO:0007566)|inner ear development (GO:0048839)|negative regulation of cell proliferation (GO:0008285)|regulation of cell growth (GO:0001558)|regulation of steroid biosynthetic process (GO:0050810)|response to cortisol (GO:0051414)|response to heat (GO:0009408)|response to retinoic acid (GO:0032526)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(1)|lung(3)	5	Glioma(25;0.08)|all_neural(26;0.181)				"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GCTGGCAGCCGCTCGGGTAGG	0.721																																						uc003hcn.3																			0				central_nervous_system(1)|endometrium(1)|lung(3)	5						c.(385-387)agC>agT		Homo sapiens insulin-like growth factor binding protein 7 (IGFBP7), transcript variant 1, mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						7.0	8.0	8.0					4																	57976131		2083	4098	6181	SO:0001819	synonymous_variant	3490				cell adhesion|negative regulation of cell proliferation|regulation of cell growth	extracellular space	insulin-like growth factor binding	g.chr4:57976131G>A	S75725	CCDS3512.1	4q12	2013-01-11			ENSG00000163453	ENSG00000163453		"""Immunoglobulin superfamily / I-set domain containing"""	5476	protein-coding gene	gene with protein product		602867				7694637, 7980422	Standard	NM_001553		Approved	MAC25, IGFBP-7, PSF, FSTL2	uc003hcn.3	Q16270	OTTHUMG00000128772	ENST00000295666.4:c.387C>T	4.37:g.57976131G>A						IGFBP7_uc011cag.2_Silent_p.S129S|LOC255130_uc003hco.3_Non-coding_Transcript	p.S129S	NM_001553	NP_001544	Q16270	IBP7_HUMAN			0	421	-	Glioma(25;0.08)|all_neural(26;0.181)		129			Kazal-like.		B4E1N2|B7Z9W7|Q07822|Q53YE6|Q9UCA8	Silent	SNP	ENST00000295666.4	37	c.387C>T	CCDS3512.1																																																																																				0.721	IGFBP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250693.1			2	2	0	0	0	1	0	2	2				
ENC1	8507	broad.mit.edu	37	5	73931990	73931990	+	Silent	SNP	G	G	A			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr5:73931990G>A	ENST00000302351.4	-	2	1451	c.321C>T	c.(319-321)tcC>tcT	p.S107S	ENC1_ENST00000537006.1_Silent_p.S107S|ENC1_ENST00000510316.1_Silent_p.S34S	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	107	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				multicellular organismal development (GO:0007275)|negative regulation of translation (GO:0017148)|nervous system development (GO:0007399)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		TGACCCGGGAGGAGTACGCAT	0.512																																						uc003kdc.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20						c.(319-321)tcC>tcT		Homo sapiens ectodermal-neural cortex 1 (with BTB-like domain) (ENC1), mRNA.							115.0	106.0	109.0					5																	73931990		2203	4300	6503	SO:0001819	synonymous_variant	8507				nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding	g.chr5:73931990G>A	AF059611	CCDS4021.1, CCDS58958.1	5q13	2013-01-30	2013-01-30		ENSG00000171617	ENSG00000171617		"""Kelch-like"", ""BTB/POZ domain containing"""	3345	protein-coding gene	gene with protein product	"""kelch-like family member 37"""	605173	"""ectodermal-neural cortex 1 (with BTB-like domain)"""	NRPB		9305847, 9566959	Standard	NM_003633		Approved	PIG10, ENC-1, TP53I10, KLHL37	uc003kdc.5	O14682	OTTHUMG00000102059	ENST00000302351.4:c.321C>T	5.37:g.73931990G>A						ENC1_uc011css.2_Silent_p.S34S|ENC1_uc021yao.1_Silent_p.S107S	p.S107S	NM_003633	NP_003624	O14682	ENC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)	1	1452	-		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)	107			BTB.		B4DHJ1|E9PFU0|O75464|Q9UPG9	Silent	SNP	ENST00000302351.4	37	c.321C>T	CCDS4021.1																																																																																				0.512	ENC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219862.2	NM_003633		3	133	0	0	0	1	0	3	133				
EPPK1	83481	broad.mit.edu	37	8	144940551	144940551	+	Missense_Mutation	SNP	C	C	A	rs201579633	byFrequency	TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr8:144940551C>A	ENST00000525985.1	-	2	6942	c.6871G>T	c.(6871-6873)Gtg>Ttg	p.V2291L				P58107	EPIPL_HUMAN	epiplakin 1	2291						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)	p.V2291M(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCGCCCACCACGCCCGCGGCC	0.721																																						uc003zaa.1																			1	Substitution - Missense(1)	p.V2291M(2)	lung(1)	NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6871-6873)Gtg>Ttg		Homo sapiens epiplakin 1 (EPPK1), mRNA.							74.0	75.0	74.0					8																	144940551		2167	4249	6416	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940551C>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6871G>T	8.37:g.144940551C>A	ENSP00000436337:p.Val2291Leu						p.V2291L	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		0	6884	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2291					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.6871G>T		.	.	.	.	.	.	.	.	.	.	C	14.47	2.544751	0.45280	.	.	ENSG00000227184	ENST00000525985	T	0.54479	0.57	4.63	2.79	0.32731	.	.	.	.	.	T	0.31295	0.0792	N	0.01473	-0.845	0.29005	N	0.887257	B	0.24768	0.111	B	0.42422	0.387	T	0.42413	-0.9453	9	0.02654	T	1	.	12.5997	0.56491	0.0:0.5022:0.4978:0.0	.	2291	E9PPU0	.	L	2291	ENSP00000436337:V2291L	ENSP00000436337:V2291L	V	-	1	0	EPPK1	145012539	0.000000	0.05858	1.000000	0.80357	0.999000	0.98932	-0.768000	0.04715	0.545000	0.28902	0.586000	0.80456	GTG		0.721	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		11	170	0	0	0	1	0	11	170				
GFPT1	2673	broad.mit.edu	37	2	69597225	69597225	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr2:69597225C>T	ENST00000357308.4	-	3	309	c.131G>A	c.(130-132)gGa>gAa	p.G44E	GFPT1_ENST00000494201.1_5'UTR|GFPT1_ENST00000361060.5_Missense_Mutation_p.G44E	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	44	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|circadian regulation of gene expression (GO:0032922)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glucosamine biosynthetic process (GO:0006042)|glutamine metabolic process (GO:0006541)|negative regulation of glycogen biosynthetic process (GO:0045719)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|protein N-linked glycosylation via asparagine (GO:0018279)|response to sucrose (GO:0009744)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						ATCATTGCCTCCATCAAATCC	0.338																																						uc002sfi.2																			0				endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						c.(130-132)gGa>gAa		Homo sapiens glutamine--fructose-6-phosphate transaminase 1 (GFPT1), transcript variant 1, mRNA.							165.0	152.0	156.0					2																	69597225		2203	4300	6503	SO:0001583	missense	2673				UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	g.chr2:69597225C>T		CCDS33216.1, CCDS58713.1	2p13	2014-09-17	2010-05-11		ENSG00000198380	ENSG00000198380	2.6.1.16		4241	protein-coding gene	gene with protein product		138292	"""glutamine-fructose-6-phosphate transaminase 1"""	GFPT		1460020	Standard	NM_002056		Approved	GFAT, GFA, GFAT1	uc002sfi.2	Q06210	OTTHUMG00000152666	ENST00000357308.4:c.131G>A	2.37:g.69597225C>T	ENSP00000349860:p.Gly44Glu					GFPT1_uc002sfh.3_Missense_Mutation_p.G44E	p.G44E	NM_001244710	NP_001231639	Q06210	GFPT1_HUMAN			2	314	-			44			Glutamine amidotransferase type-2.		Q53QE6|Q9BXF8	Missense_Mutation	SNP	ENST00000357308.4	37	c.131G>A	CCDS58713.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.614414	0.66672	.	.	ENSG00000198380	ENST00000357308;ENST00000361060	T;T	0.76448	-1.02;-1.02	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.83271	0.5218	L	0.37897	1.145	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84812	0.0791	10	0.66056	D	0.02	-16.2681	16.9241	0.86170	0.0:1.0:0.0:0.0	.	44	Q06210-2	.	E	44	ENSP00000349860:G44E;ENSP00000354347:G44E	ENSP00000349860:G44E	G	-	2	0	GFPT1	69450729	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.161000	0.77505	2.586000	0.87340	0.455000	0.32223	GGA		0.338	GFPT1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				45	74	0	0	0	1	0	45	74				
FBN2	2201	broad.mit.edu	37	5	127654570	127654570	+	Splice_Site	SNP	C	C	G			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr5:127654570C>G	ENST00000508053.1	-	41	5569		c.e41+1		FBN2_ENST00000262464.4_Splice_Site			P35556	FBN2_HUMAN	fibrillin 2						anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ACTGACCATACCTGTACAGTT	0.383																																						uc003kuu.3																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197	GRCh37	CS072202	FBN2	S		c.e35+1		Homo sapiens fibrillin 2 (FBN2), mRNA.							107.0	97.0	100.0					5																	127654570		2203	4300	6503	SO:0001630	splice_region_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127654570C>G	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.4594+1G>C	5.37:g.127654570C>G							p.D1532_splice	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	35	5033	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1532			EGF-like 26; calcium-binding.		B4DU01|Q59ES6	Splice_Site	SNP	ENST00000508053.1	37	c.4594_splice	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.483608	0.84854	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	.	.	.	4.84	4.84	0.62591	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5002	0.90878	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FBN2	127682469	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	7.500000	0.81588	2.679000	0.91253	0.655000	0.94253	.		0.383	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999	Intron	4	140	0	0	0	1	0	4	140				
SPG20	23111	broad.mit.edu	37	13	36903501	36903501	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr13:36903501T>C	ENST00000451493.1	-	4	1379	c.1162A>G	c.(1162-1164)Agg>Ggg	p.R388G	SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000494062.2_Missense_Mutation_p.R388G|SPG20_ENST00000438666.2_Missense_Mutation_p.R388G|SPG20_ENST00000355182.4_Missense_Mutation_p.R388G	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	388					abscission (GO:0009838)|adipose tissue development (GO:0060612)|cell death (GO:0008219)|cell division (GO:0051301)|lipid particle organization (GO:0034389)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of collateral sprouting in absence of injury (GO:0048698)|neuromuscular process (GO:0050905)|regulation of mitochondrial membrane potential (GO:0051881)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|midbody (GO:0030496)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		TTATTTACCCTTTTTCCACGT	0.373																																						uc001uvn.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27						c.(1162-1164)Agg>Ggg		Homo sapiens spastic paraplegia 20 (Troyer syndrome) (SPG20), transcript variant 2, mRNA.							319.0	280.0	293.0					13																	36903501		2203	4300	6503	SO:0001583	missense	23111				cell death	cytoplasm	ubiquitin protein ligase binding	g.chr13:36903501T>C	AB011182	CCDS9356.1	13q13.1	2008-07-04	2007-04-23		ENSG00000133104	ENSG00000133104			18514	protein-coding gene	gene with protein product	"""spartin"""	607111				6022528, 12134148	Standard	NM_001142294		Approved	KIAA0610, TAHCCP1	uc001uvm.3	Q8N0X7	OTTHUMG00000016730	ENST00000451493.1:c.1162A>G	13.37:g.36903501T>C	ENSP00000414147:p.Arg388Gly					SPG20_uc010ten.2_Intron|SPG20_uc001uvm.3_Missense_Mutation_p.R388G|SPG20_uc001uvo.3_Missense_Mutation_p.R388G|SPG20_uc001uvq.3_Missense_Mutation_p.R388G|SPG20_uc001uvp.2_Missense_Mutation_p.R388G	p.R388G	NM_001142296	NP_055902	Q8N0X7	SPG20_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)	4	1432	-		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	388					O60349|Q86Y67|Q9H1T2|Q9H1T3	Missense_Mutation	SNP	ENST00000451493.1	37	c.1162A>G	CCDS9356.1	.	.	.	.	.	.	.	.	.	.	T	9.931	1.214902	0.22373	.	.	ENSG00000133104	ENST00000438666;ENST00000355182;ENST00000451493;ENST00000423217	D;D;D	0.88664	-2.41;-2.41;-2.41	5.28	5.28	0.74379	.	0.441056	0.25244	N	0.032064	T	0.76814	0.4040	N	0.08118	0	0.28632	N	0.907605	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.65623	-0.6123	10	0.24483	T	0.36	-15.9335	11.5883	0.50931	0.0:0.0:0.0:1.0	.	388;388	B3KMI3;Q8N0X7	.;SPG20_HUMAN	G	388	ENSP00000406061:R388G;ENSP00000347314:R388G;ENSP00000414147:R388G	ENSP00000347314:R388G	R	-	1	2	SPG20	35801501	1.000000	0.71417	1.000000	0.80357	0.428000	0.31595	1.288000	0.33296	1.997000	0.58415	0.377000	0.23210	AGG		0.373	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044494.2			3	242	0	0	0	1	0	3	242				
MBIP	51562	broad.mit.edu	37	14	36789689	36789689	+	Missense_Mutation	SNP	A	A	C			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr14:36789689A>C	ENST00000416007.4	-	1	193	c.106T>G	c.(106-108)Tcc>Gcc	p.S36A	MBIP_ENST00000318473.7_Missense_Mutation_p.S36A|MBIP_ENST00000359527.7_Missense_Mutation_p.S36A	NM_001144891.1|NM_016586.2	NP_001138363.1|NP_057670.2	Q9NS73	MBIP1_HUMAN	MAP3K12 binding inhibitory protein 1	36					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|inactivation of MAPK activity involved in osmosensory signaling pathway (GO:0000173)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|protein kinase inhibitor activity (GO:0004860)			breast(2)|large_intestine(1)|lung(5)	8	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)		GTGTGTAGGGAGCGAAAGATT	0.577																																						uc001wtm.2																			0				breast(2)|large_intestine(1)|lung(5)	8						c.(106-108)Tcc>Gcc		Homo sapiens MAP3K12 binding inhibitory protein 1 (MBIP), transcript variant 1, mRNA.							85.0	74.0	77.0					14																	36789689		2203	4300	6503	SO:0001583	missense	51562				histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus	identical protein binding|protein kinase inhibitor activity	g.chr14:36789689A>C	BC016821	CCDS9658.1, CCDS45096.1	14q13.2	2005-01-10			ENSG00000151332	ENSG00000151332			20427	protein-coding gene	gene with protein product		609431				10801814	Standard	NM_016586		Approved		uc001wtm.2	Q9NS73	OTTHUMG00000140222	ENST00000416007.4:c.106T>G	14.37:g.36789689A>C	ENSP00000399718:p.Ser36Ala					MBIP_uc001wto.2_Missense_Mutation_p.S36A|MBIP_uc010tpy.1_5'UTR|MBIP_uc001wtn.2_Missense_Mutation_p.S36A	p.S36A	NM_016586	NP_057670	Q9NS73	MBIP1_HUMAN	Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)	0	194	-	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		36					Q86TZ2|Q96AS5|Q9BS93|Q9NZE1	Missense_Mutation	SNP	ENST00000416007.4	37	c.106T>G	CCDS9658.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.02|11.02	1.516533|1.516533	0.27123|0.27123	.|.	.|.	ENSG00000151332|ENSG00000151332	ENST00000553977;ENST00000553549|ENST00000416007;ENST00000318473;ENST00000359527;ENST00000396329;ENST00000553298	.|T;T;T	.|0.39229	.|1.09;1.09;1.09	5.05|5.05	5.05|5.05	0.67936|0.67936	.|.	.|0.070686	.|0.64402	.|D	.|0.000012	T|T	0.48390|0.48390	0.1497|0.1497	L|L	0.34521|0.34521	1.04|1.04	0.41486|0.41486	D|D	0.988192|0.988192	.|B;D;B	.|0.61697	.|0.007;0.99;0.007	.|B;D;B	.|0.73380	.|0.007;0.98;0.007	T|T	0.31752|0.31752	-0.9932|-0.9932	5|10	.|0.12766	.|T	.|0.61	-10.0349|-10.0349	12.5567|12.5567	0.56257|0.56257	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|36;36;36	.|Q9NS73-5;Q9NS73-3;Q9NS73	.|.;.;MBIP1_HUMAN	R|A	32;16|36	.|ENSP00000399718:S36A;ENSP00000324444:S36A;ENSP00000352517:S36A	.|ENSP00000324444:S36A	L|S	-|-	2|1	0|0	MBIP|MBIP	35859440|35859440	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.421000|0.421000	0.31385|0.31385	4.264000|4.264000	0.58859|0.58859	2.247000|2.247000	0.74100|0.74100	0.482000|0.482000	0.46254|0.46254	CTC|TCC		0.577	MBIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276685.2	NM_016586		75	93	0	0	0	1	0	75	93				
TWIST1	7291	broad.mit.edu	37	7	19156404	19156404	+	Nonsense_Mutation	SNP	C	C	A	rs104894058		TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr7:19156404C>A	ENST00000242261.5	-	1	891	c.541G>T	c.(541-543)Gag>Tag	p.E181*	AC003986.6_ENST00000419944.1_RNA	NM_000474.3	NP_000465.1	Q15672	TWST1_HUMAN	twist family bHLH transcription factor 1	181	Sufficient for transactivation activity. {ECO:0000250}.				aortic valve morphogenesis (GO:0003180)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in heart valve development (GO:2000793)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|cranial suture morphogenesis (GO:0060363)|embryonic camera-type eye formation (GO:0060900)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cushion morphogenesis (GO:0003203)|eyelid development in camera-type eye (GO:0061029)|in utero embryonic development (GO:0001701)|mitral valve morphogenesis (GO:0003183)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone phosphorylation (GO:0033128)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of oxidative phosphorylation uncoupler activity (GO:2000276)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|ossification (GO:0001503)|osteoblast differentiation (GO:0001649)|outer ear morphogenesis (GO:0042473)|palate development (GO:0060021)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell motility (GO:2000147)|positive regulation of endocardial cushion to mesenchymal transition involved in heart valve formation (GO:2000802)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of monocyte chemotactic protein-1 production (GO:0071639)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of bone mineralization (GO:0030500)|rhythmic process (GO:0048511)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription factor binding (GO:0008134)	p.E181*(1)		lung(2)|upper_aerodigestive_tract(1)	3						CTGAGCCGCTCGTGAGCCACA	0.657																																						uc003sum.3																			1	Substitution - Nonsense(1)	p.E181*(2)	upper_aerodigestive_tract(1)	lung(2)|upper_aerodigestive_tract(1)	3	GRCh37	CM990110	TWIST1	M	rs104894058	c.(541-543)Gag>Tag		Homo sapiens twist homolog 1 (Drosophila) (TWIST1), mRNA.							61.0	52.0	55.0					7																	19156404		2203	4300	6503	SO:0001587	stop_gained	7291				aortic valve morphogenesis|cellular response to hypoxia|embryonic camera-type eye formation|embryonic cranial skeleton morphogenesis|eyelid development in camera-type eye|muscle organ development|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of histone phosphorylation|negative regulation of osteoblast differentiation|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of cell motility|positive regulation of epithelial to mesenchymal transition|positive regulation of fatty acid beta-oxidation|positive regulation of monocyte chemotactic protein-1 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of tumor necrosis factor production|regulation of bone mineralization	nucleus	E-box binding|bHLH transcription factor binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr7:19156404C>A	U80998	CCDS5367.1	7p21	2014-02-07	2013-10-17	2003-03-28	ENSG00000122691	ENSG00000122691		"""Basic helix-loop-helix proteins"""	12428	protein-coding gene	gene with protein product	"""Saethre-Chotzen syndrome"""	601622	"""blepharophimosis, epicanthus inversus and ptosis 3"", ""acrocephalosyndactyly 3"", ""twist homolog 1 (Drosophila)"", ""twist basic helix-loop-helix transcription factor 1"", ""craniosynostosis"""	ACS3, BPES3, TWIST, CRS		8995765, 11474656, 17343269	Standard	XR_428085		Approved	SCS, H-twist, BPES2, bHLHa38, CRS1	uc003sum.3	Q15672	OTTHUMG00000090821	ENST00000242261.5:c.541G>T	7.37:g.19156404C>A	ENSP00000242261:p.Glu181*					TWIST1_uc022aah.1_Nonsense_Mutation_p.E181*	p.E181*	NM_000474	NP_000465	Q15672	TWST1_HUMAN			0	892	-			181			Sufficient for transactivation activity (By similarity).		A4D128|Q92487|Q99804	Nonsense_Mutation	SNP	ENST00000242261.5	37	c.541G>T	CCDS5367.1	.	.	.	.	.	.	.	.	.	.	c	28.3	4.910460	0.92107	.	.	ENSG00000122691	ENST00000242261	.	.	.	4.73	4.73	0.59995	.	0.000000	0.48767	D	0.000164	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-16.7111	17.3798	0.87401	0.0:1.0:0.0:0.0	.	.	.	.	X	181	.	ENSP00000242261:E181X	E	-	1	0	TWIST1	19122929	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.687000	0.84139	2.190000	0.69967	0.449000	0.29647	GAG		0.657	TWIST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207625.1	NM_000474		16	26	0	0	0	1	0	16	26				
C10orf120	399814	broad.mit.edu	37	10	124457437	124457437	+	Missense_Mutation	SNP	G	G	A	rs529409006		TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr10:124457437G>A	ENST00000329446.4	-	3	851	c.820C>T	c.(820-822)Cgg>Tgg	p.R274W		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	274										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				GCGATGGACCGTTCCGGTTTC	0.378													G|||	1	0.000199681	0.0	0.0	5008	,	,		20300	0.001		0.0	False		,,,				2504	0.0					uc001lgn.3																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21						c.(820-822)Cgg>Tgg		Homo sapiens chromosome 10 open reading frame 120 (C10orf120), mRNA.							164.0	161.0	162.0					10																	124457437		2203	4300	6503	SO:0001583	missense	399814							g.chr10:124457437G>A		CCDS31302.1	10q26.13	2012-06-12			ENSG00000183559	ENSG00000183559			25707	protein-coding gene	gene with protein product							Standard	NM_001010912		Approved	bA318C4.1	uc001lgn.3	Q5SQS8	OTTHUMG00000019187	ENST00000329446.4:c.820C>T	10.37:g.124457437G>A	ENSP00000331012:p.Arg274Trp						p.R274W	NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN			2	852	-		all_neural(114;0.169)|Glioma(114;0.222)	274					B2RU17	Missense_Mutation	SNP	ENST00000329446.4	37	c.820C>T	CCDS31302.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.667963	0.47677	.	.	ENSG00000183559	ENST00000329446	T	0.54071	0.59	4.78	-0.958	0.10347	.	0.000000	0.46442	D	0.000291	T	0.62307	0.2417	M	0.64997	1.995	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.54456	-0.8291	10	0.66056	D	0.02	-23.7431	7.5466	0.27770	0.0862:0.0:0.2883:0.6255	.	274	Q5SQS8	CJ120_HUMAN	W	274	ENSP00000331012:R274W	ENSP00000331012:R274W	R	-	1	2	C10orf120	124447427	0.004000	0.15560	0.001000	0.08648	0.002000	0.02628	0.264000	0.18497	-0.263000	0.09378	-0.142000	0.14014	CGG		0.378	C10orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050803.1	NM_001010912		4	211	0	0	0	1	0	4	211				
TK1	7083	broad.mit.edu	37	17	76178724	76178724	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr17:76178724G>T	ENST00000301634.7	-	4	487	c.249C>A	c.(247-249)gaC>gaA	p.D83E	TK1_ENST00000590430.1_Intron|TK1_ENST00000588734.1_Missense_Mutation_p.D83E|TK1_ENST00000405273.1_Missense_Mutation_p.D83E|TK1_ENST00000590862.1_Missense_Mutation_p.D83E	NM_003258.4	NP_003249.3	P04183	KITH_HUMAN	thymidine kinase 1, soluble	83					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|digestive tract development (GO:0048565)|DNA replication (GO:0006260)|fetal process involved in parturition (GO:0060138)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|response to copper ion (GO:0046688)|response to cortisol (GO:0051414)|response to nutrient levels (GO:0031667)|response to toxic substance (GO:0009636)|skeletal muscle cell proliferation (GO:0014856)|small molecule metabolic process (GO:0044281)|thymidine metabolic process (GO:0046104)	cytosol (GO:0005829)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|nucleoside kinase activity (GO:0019206)|thymidine kinase activity (GO:0004797)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|urinary_tract(2)	4			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.0804)|Lung(188;0.23)		Trifluridine(DB00432)|Zidovudine(DB00495)	CCTGGGCCACGTCTCGGAGCA	0.632																																						uc002juw.2																			0				endometrium(1)|large_intestine(1)|urinary_tract(2)	4						c.(247-249)gaC>gaA		Homo sapiens thymidine kinase 1, soluble (TK1), mRNA.							54.0	35.0	41.0					17																	76178724		2202	4298	6500	SO:0001583	missense	7083				DNA replication|protein homotetramerization|pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|thymidine kinase activity|zinc ion binding	g.chr17:76178724G>T		CCDS11754.1	17q23.2-q25.3	2012-10-02			ENSG00000167900	ENSG00000167900	2.7.1.21		11830	protein-coding gene	gene with protein product		188300					Standard	NM_003258		Approved		uc002juw.2	P04183	OTTHUMG00000150674	ENST00000301634.7:c.249C>A	17.37:g.76178724G>T	ENSP00000301634:p.Asp83Glu						p.D83E	NM_003258	NP_003249	P04183	KITH_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.0804)|Lung(188;0.23)		3	459	-			83					B2RC58|Q969V0|Q9UMG9	Missense_Mutation	SNP	ENST00000301634.7	37	c.249C>A	CCDS11754.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.318349	0.23994	.	.	ENSG00000167900	ENST00000301634;ENST00000405273	.	.	.	5.48	-6.15	0.02105	.	0.047074	0.85682	D	0.000000	T	0.34600	0.0903	N	0.11724	0.165	0.41698	D	0.989387	B;B	0.11235	0.004;0.002	B;B	0.18561	0.022;0.022	T	0.01639	-1.1306	9	0.39692	T	0.17	-25.073	16.5321	0.84364	0.6796:0.0:0.3204:0.0	.	83;83	B5BU32;P04183	.;KITH_HUMAN	E	83	.	ENSP00000301634:D83E	D	-	3	2	TK1	73690319	0.003000	0.15002	0.019000	0.16419	0.845000	0.48019	-1.049000	0.03514	-1.031000	0.03308	-0.259000	0.10710	GAC		0.632	TK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319577.1	NM_003258		11	10	0	0	0	1	0	11	10				
CLEC14A	161198	broad.mit.edu	37	14	38724401	38724401	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr14:38724401C>T	ENST00000342213.2	-	1	1173	c.827G>A	c.(826-828)gGc>gAc	p.G276D		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	276	EGF-like.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		CAGCTCGAAGCCCGTAGCACA	0.667																																						uc001wum.1																			0				breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(826-828)gGc>gAc		Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.							58.0	63.0	61.0					14																	38724401		2202	4300	6502	SO:0001583	missense	161198					integral to membrane	sugar binding	g.chr14:38724401C>T		CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"""C-type lectin domain containing"""	19832	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 27"""	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.827G>A	14.37:g.38724401C>T	ENSP00000353013:p.Gly276Asp						p.G276D	NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)	0	1174	-	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		276			EGF-like.		Q695G9|Q6PWT6|Q8N5V5	Missense_Mutation	SNP	ENST00000342213.2	37	c.827G>A	CCDS9667.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.360040	0.41801	.	.	ENSG00000176435	ENST00000342213;ENST00000546356	D	0.97209	-4.29	3.91	3.91	0.45181	Epidermal growth factor-like (1);	0.000000	0.46758	D	0.000278	D	0.96549	0.8874	L	0.34521	1.04	0.37290	D	0.908229	D	0.76494	0.999	D	0.67382	0.951	D	0.96843	0.9619	10	0.59425	D	0.04	-16.3876	11.7127	0.51635	0.0:1.0:0.0:0.0	.	276	Q86T13	CLC14_HUMAN	D	276;41	ENSP00000353013:G276D	ENSP00000353013:G276D	G	-	2	0	CLEC14A	37794152	1.000000	0.71417	0.939000	0.37840	0.055000	0.15305	4.054000	0.57434	2.498000	0.84270	0.591000	0.81541	GGC		0.667	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060		4	173	0	0	0	1	0	4	173				
DOK2	9046	broad.mit.edu	37	8	21767190	21767190	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr8:21767190G>A	ENST00000276420.4	-	5	1129	c.871C>T	c.(871-873)Cgg>Tgg	p.R291W	DOK2_ENST00000544659.1_Missense_Mutation_p.R137W	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN	docking protein 2, 56kDa	291	Pro-rich.				blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|leukocyte migration (GO:0050900)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)	receptor signaling protein activity (GO:0005057)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		CCCCGAGGCCGTGGAGCAGGC	0.677																																						uc003wzx.1																			0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26						c.(871-873)Cgg>Tgg		Homo sapiens docking protein 2, 56kDa (DOK2), mRNA.							45.0	49.0	48.0					8																	21767190		2203	4300	6503	SO:0001583	missense	9046				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding	g.chr8:21767190G>A	AF034970	CCDS6016.1	8p21.3	2008-08-07	2002-08-29		ENSG00000147443	ENSG00000147443			2991	protein-coding gene	gene with protein product		604997	"""docking protein 2, 56kD"""			9478921, 14645010	Standard	NM_003974		Approved	p56dok-2, Dok-2	uc003wzy.1	O60496	OTTHUMG00000131075	ENST00000276420.4:c.871C>T	8.37:g.21767190G>A	ENSP00000276420:p.Arg291Trp					DOK2_uc003wzy.1_Missense_Mutation_p.R291W|DOK2_uc003wzz.1_Missense_Mutation_p.R137W|DOK2_uc010lth.1_Missense_Mutation_p.R137W	p.R291W	NM_003974	NP_003965	O60496	DOK2_HUMAN		Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)	4	964	-			291			Pro-rich.		Q8N5A4	Missense_Mutation	SNP	ENST00000276420.4	37	c.871C>T	CCDS6016.1	.	.	.	.	.	.	.	.	.	.	G	9.067	0.995885	0.19043	.	.	ENSG00000147443	ENST00000276420;ENST00000544659;ENST00000518197	T;T;T	0.47869	1.79;1.35;0.83	5.27	1.86	0.25419	.	0.909885	0.09022	N	0.860038	T	0.41003	0.1140	M	0.63428	1.95	0.09310	N	1	D;D	0.56035	0.974;0.974	B;B	0.40565	0.333;0.333	T	0.29119	-1.0022	10	0.38643	T	0.18	.	5.4262	0.16427	0.0934:0.1376:0.6196:0.1495	.	291;291	O60496;A8K7W1	DOK2_HUMAN;.	W	291;137;137	ENSP00000276420:R291W;ENSP00000443602:R137W;ENSP00000430729:R137W	ENSP00000276420:R291W	R	-	1	2	DOK2	21823136	0.009000	0.17119	0.001000	0.08648	0.053000	0.15095	1.483000	0.35497	0.543000	0.28864	0.655000	0.94253	CGG		0.677	DOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253735.3	NM_003974		4	165	0	0	0	1	0	4	165				
PROSER2	254427	broad.mit.edu	37	10	11908732	11908732	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr10:11908732C>T	ENST00000277570.5	+	3	495	c.341C>T	c.(340-342)gCa>gTa	p.A114V	PROSER2-AS1_ENST00000445498.1_RNA|PROSER2-AS1_ENST00000453242.1_RNA|PROSER2_ENST00000474155.1_3'UTR|PROSER2_ENST00000379200.1_5'Flank	NM_153256.3	NP_694988.3	Q86WR7	PRSR2_HUMAN	proline and serine rich 2	114																	GTGCAGCCAGCACCTGGCGCC	0.642																																						uc001ikx.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						c.(340-342)gCa>gTa		Homo sapiens chromosome 10 open reading frame 47 (C10orf47), mRNA.							39.0	36.0	37.0					10																	11908732		2203	4300	6503	SO:0001583	missense	254427							g.chr10:11908732C>T	BC017269	CCDS7085.1	10p14	2014-02-19	2014-02-19	2012-12-05	ENSG00000148426	ENSG00000148426			23728	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 47"", ""proline and serine-rich protein 2"""	C10orf47		12477932	Standard	NM_153256		Approved	MGC35403	uc001ikx.3	Q86WR7	OTTHUMG00000017673	ENST00000277570.5:c.341C>T	10.37:g.11908732C>T	ENSP00000277570:p.Ala114Val					LOC219731_uc001iky.2_Intron	p.A114V	NM_153256	NP_694988	Q86WR7	CJ047_HUMAN			2	495	+			114					D3DRR8|Q5W0J9|Q5W0K0|Q5W0K1|Q5W0K2|Q6PJC8|Q8N317	Missense_Mutation	SNP	ENST00000277570.5	37	c.341C>T	CCDS7085.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.908760	0.33721	.	.	ENSG00000148426	ENST00000379208;ENST00000277570;ENST00000379202	T	0.08282	3.11	5.34	-9.2	0.00682	.	1.758700	0.03164	N	0.169776	T	0.03827	0.0108	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.41270	-0.9518	10	0.87932	D	0	-8.1453	5.686	0.17803	0.1278:0.5088:0.093:0.2703	.	114	Q86WR7	CJ047_HUMAN	V	114	ENSP00000277570:A114V	ENSP00000277570:A114V	A	+	2	0	C10orf47	11948738	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.566000	0.05922	-1.852000	0.01166	-0.244000	0.11960	GCA		0.642	PROSER2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090189.2	NM_153256		3	83	0	0	0	1	0	3	83				
GIMAP2	26157	broad.mit.edu	37	7	150389724	150389724	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr7:150389724G>A	ENST00000223293.5	+	3	444	c.350G>A	c.(349-351)cGc>cAc	p.R117H		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	117	AIG1-type G.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	GTP binding (GO:0005525)			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGCTGGGCCGCTATACCTCA	0.552																																						uc003who.3																			0				kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13						c.(349-351)cGc>cAc		Homo sapiens GTPase, IMAP family member 2 (GIMAP2), mRNA.							48.0	42.0	44.0					7																	150389724		2203	4300	6503	SO:0001583	missense	26157					integral to membrane	GTP binding	g.chr7:150389724G>A	AL110151	CCDS5905.1	7q36.1	2014-04-04			ENSG00000106560	ENSG00000106560		"""GTPases, IMAP"""	21789	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 12"""	608085				15474311	Standard	NM_015660		Approved	DKFZp586D0824, HIMAP2, IMAP2, IAN12	uc003who.3	Q9UG22	OTTHUMG00000157488	ENST00000223293.5:c.350G>A	7.37:g.150389724G>A	ENSP00000223293:p.Arg117His						p.R117H	NM_015660	NP_056475	Q9UG22	GIMA2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	438	+			117					Q96L25	Missense_Mutation	SNP	ENST00000223293.5	37	c.350G>A	CCDS5905.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.262386	0.39995	.	.	ENSG00000106560	ENST00000223293	T	0.08193	3.12	3.9	2.06	0.26882	AIG1 (1);	0.000000	0.64402	D	0.000001	T	0.23054	0.0557	M	0.85299	2.745	0.80722	D	1	D	0.76494	0.999	P	0.60886	0.88	T	0.00756	-1.1579	10	0.62326	D	0.03	.	6.1771	0.20449	0.2383:0.0:0.7617:0.0	.	117	Q9UG22	GIMA2_HUMAN	H	117	ENSP00000223293:R117H	ENSP00000223293:R117H	R	+	2	0	GIMAP2	150020657	0.996000	0.38824	0.820000	0.32676	0.042000	0.13812	2.686000	0.46968	0.440000	0.26502	0.609000	0.83330	CGC		0.552	GIMAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348948.1	NM_015660		3	56	0	0	0	1	0	3	56				
OBSCN	84033	broad.mit.edu	37	1	228467094	228467094	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr1:228467094G>A	ENST00000422127.1	+	27	7389	c.7345G>A	c.(7345-7347)Gtg>Atg	p.V2449M	OBSCN_ENST00000284548.11_Missense_Mutation_p.V2449M|OBSCN_ENST00000570156.2_Missense_Mutation_p.V2878M|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.V1296M	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2449					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GACCGGGCCCGTGCACTTCAC	0.697																																						uc009xez.1																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(7345-7347)Gtg>Atg		Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.							33.0	39.0	37.0					1																	228467094		2083	4201	6284	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding	g.chr1:228467094G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.7345G>A	1.37:g.228467094G>A	ENSP00000409493:p.Val2449Met					OBSCN_uc001hsn.3_Missense_Mutation_p.V2449M|OBSCN_uc001hsp.1_Missense_Mutation_p.V148M|OBSCN_uc001hsq.1_5'Flank	p.V2449M	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			26	7389	+		Prostate(94;0.0405)	2449					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.7345G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.084305	0.36758	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599;ENST00000366706	T;T;T	0.41400	1.0;1.0;1.0	4.47	4.47	0.54385	Immunoglobulin-like fold (1);	0.092821	0.42964	D	0.000625	T	0.56470	0.1987	M	0.69523	2.12	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	P;D;D	0.72338	0.902;0.977;0.968	T	0.58792	-0.7574	10	0.51188	T	0.08	.	5.303	0.15788	0.1396:0.2051:0.6553:0.0	.	2449;2449;2449	Q5VST9;Q5VST9-2;Q5VST9-3	OBSCN_HUMAN;.;.	M	2449;2449;1296;148	ENSP00000284548:V2449M;ENSP00000409493:V2449M;ENSP00000352613:V1296M	ENSP00000284548:V2449M	V	+	1	0	OBSCN	226533717	0.992000	0.36948	0.951000	0.38953	0.068000	0.16541	2.087000	0.41653	2.207000	0.71202	0.555000	0.69702	GTG		0.697	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		3	102	0	0	0	1	0	3	102				
CNOT7	29883	broad.mit.edu	37	8	17092255	17092255	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr8:17092255C>G	ENST00000361272.4	-	5	886	c.588G>C	c.(586-588)aaG>aaC	p.K196N	CNOT7_ENST00000523917.1_Missense_Mutation_p.K196N	NM_013354.5	NP_037486.2	Q9UIV1	CNOT7_HUMAN	CCR4-NOT transcription complex, subunit 7	196					carbohydrate metabolic process (GO:0005975)|cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of cell proliferation (GO:0008285)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|exoribonuclease activity (GO:0004532)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)	11				Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209)		TCATGAGGTACTTCACATCAT	0.413																																						uc003wxf.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)	11						c.(586-588)aaG>aaC		Homo sapiens CCR4-NOT transcription complex, subunit 7 (CNOT7), transcript variant 1, mRNA.							139.0	128.0	132.0					8																	17092255		2203	4300	6503	SO:0001583	missense	29883				carbohydrate metabolic process|nuclear-transcribed mRNA poly(A) tail shortening	CCR4-NOT complex|cytoplasmic mRNA processing body|cytosol	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr8:17092255C>G	L46722	CCDS6000.2, CCDS55202.1	8p22-p21.3	2008-08-07			ENSG00000198791	ENSG00000198791			14101	protein-coding gene	gene with protein product	"""BTG1 binding factor 1"""	604913		CAF1		10637334, 1538749, 17264152	Standard	XM_005273481		Approved		uc003wxg.1	Q9UIV1	OTTHUMG00000096971	ENST00000361272.4:c.588G>C	8.37:g.17092255C>G	ENSP00000355279:p.Lys196Asn					CNOT7_uc003wxg.1_Missense_Mutation_p.K196N|CNOT7_uc003wxh.1_Missense_Mutation_p.K196N	p.K196N	NM_013354	NP_037486	Q9UIV1	CNOT7_HUMAN		Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209)	4	756	-			196					A8MZM5|B3KMP1|B3KN35|D3DSP6|G3V108|Q7Z530	Missense_Mutation	SNP	ENST00000361272.4	37	c.588G>C	CCDS6000.2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	18.92|18.92|18.92	3.726583|3.726583|3.726583	0.69074|0.69074|0.69074	.|.|.	.|.|.	ENSG00000198791|ENSG00000198791|ENSG00000198791	ENST00000361272;ENST00000523917|ENST00000519918|ENST00000518541	T;T|.|.	0.37915|.|.	1.17;1.17|.|.	5.06|5.06|5.06	4.19|4.19|4.19	0.49359|0.49359|0.49359	Ribonuclease H-like (1);|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|T	0.75989|0.75989|0.75989	0.3925|0.3925|0.3925	M|M|M	0.87617|0.87617|0.87617	2.895|2.895|2.895	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D|.|.	0.89917|.|.	1.0;1.0|.|.	D;D|.|.	0.91635|.|.	0.996;0.999|.|.	T|T|T	0.78270|0.78270|0.78270	-0.2269|-0.2269|-0.2269	10|5|5	0.54805|.|.	T|.|.	0.06|.|.	-21.1729|-21.1729|-21.1729	9.6873|9.6873|9.6873	0.40107|0.40107|0.40107	0.0:0.7774:0.0:0.2226|0.0:0.7774:0.0:0.2226|0.0:0.7774:0.0:0.2226	.|.|.	196;196|.|.	G3V108;Q9UIV1|.|.	.;CNOT7_HUMAN|.|.	N|T|L	196|176|39	ENSP00000355279:K196N;ENSP00000429093:K196N|.|.	ENSP00000355279:K196N|.|.	K|S|V	-|-|-	3|2|1	2|0|0	CNOT7|CNOT7|CNOT7	17136626|17136626|17136626	0.999000|0.999000|0.999000	0.42202|0.42202|0.42202	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.999000|0.999000|0.999000	0.98932|0.98932|0.98932	0.740000|0.740000|0.740000	0.26188|0.26188|0.26188	1.449000|1.449000|1.449000	0.47699|0.47699|0.47699	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	AAG|AGT|GTA		0.413	CNOT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214038.1	NM_013354		39	100	0	0	0	1	0	39	100				
ADRA1A	148	broad.mit.edu	37	8	26722176	26722176	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr8:26722176G>A	ENST00000519229.1	-	1	317	c.311C>T	c.(310-312)gCa>gTa	p.A104V	ADRA1A_ENST00000380572.3_Missense_Mutation_p.A104V|ADRA1A_ENST00000380587.1_Missense_Mutation_p.A104V|ADRA1A_ENST00000380586.1_Missense_Mutation_p.A104V|ADRA1A_ENST00000380582.3_Missense_Mutation_p.A104V|ADRA1A_ENST00000358857.5_Missense_Mutation_p.A104V|ADRA1A_ENST00000354550.4_Missense_Mutation_p.A104V|ADRA1A_ENST00000380573.3_Missense_Mutation_p.A104V|ADRA1A_ENST00000276393.4_Missense_Mutation_p.A104V|ADRA1A_ENST00000380581.2_Missense_Mutation_p.A104V			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	174					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	CACATCCACTGCCGCCCAGAT	0.632																																						uc003xfc.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36						c.(310-312)gCa>gTa		Homo sapiens adrenergic, alpha-1A-, receptor (ADRA1A), transcript variant 2, mRNA.	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)						104.0	97.0	99.0					8																	26722176		2203	4300	6503	SO:0001583	missense	148				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of Rho protein signal transduction|negative regulation of cell proliferation|negative regulation of synaptic transmission, GABAergic|positive regulation of ERK1 and ERK2 cascade|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr8:26722176G>A	L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907		"""GPCR / Class A : Adrenoceptors : alpha"""	277	protein-coding gene	gene with protein product		104221	"""adrenergic, alpha-1A-, receptor"""	ADRA1C			Standard	NM_033303		Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000519229.1:c.311C>T	8.37:g.26722176G>A	ENSP00000430793:p.Ala104Val					ADRA1A_uc010lul.1_Missense_Mutation_p.A104V|ADRA1A_uc003xfd.1_Non-coding_Transcript|ADRA1A_uc003xfe.1_Missense_Mutation_p.A104V|ADRA1A_uc010lum.1_Missense_Mutation_p.A104V|ADRA1A_uc003xff.1_Non-coding_Transcript|ADRA1A_uc003xfg.1_Missense_Mutation_p.A104V|ADRA1A_uc003xfh.1_Missense_Mutation_p.A104V|ADRA1A_uc022atd.1_Missense_Mutation_p.A104V	p.A104V	NM_033303	NP_150646	P35348	ADA1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	0	747	-		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)	104					Q9NPY0	Missense_Mutation	SNP	ENST00000519229.1	37	c.311C>T		.	.	.	.	.	.	.	.	.	.	G	27.4	4.830216	0.91036	.	.	ENSG00000120907	ENST00000380586;ENST00000380587;ENST00000380582;ENST00000380581;ENST00000519229;ENST00000354550;ENST00000276393;ENST00000380573;ENST00000380572;ENST00000358857	T;T;T;T;T;T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19	4.83	4.83	0.62350	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.62048	0.2396	M	0.74467	2.265	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.997;0.997;1.0;0.999;0.998;0.999	T	0.67337	-0.5696	10	0.87932	D	0	.	17.898	0.88895	0.0:0.0:1.0:0.0	.	104;104;104;104;104;104	P35348-9;P35348-8;P35348;P35348-4;P35348-3;B0ZBD3	.;.;ADA1A_HUMAN;.;.;.	V	104	ENSP00000369960:A104V;ENSP00000369961:A104V;ENSP00000369956:A104V;ENSP00000369955:A104V;ENSP00000430793:A104V;ENSP00000346557:A104V;ENSP00000276393:A104V;ENSP00000369947:A104V;ENSP00000369946:A104V;ENSP00000351725:A104V	ENSP00000276393:A104V	A	-	2	0	ADRA1A	26778093	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.807000	0.99171	2.365000	0.80145	0.563000	0.77884	GCA		0.632	ADRA1A-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000376207.1	NM_033303		46	86	0	0	0	1	0	46	86				
MAGEB4	4115	broad.mit.edu	37	X	30261042	30261042	+	Missense_Mutation	SNP	G	G	A	rs148704670		TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chrX:30261042G>A	ENST00000378982.2	+	1	986	c.790G>A	c.(790-792)Gat>Aat	p.D264N	MAGEB1_ENST00000397550.1_5'Flank|MAGEB1_ENST00000378981.3_5'Flank	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	264	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						GCCCAACAGTGATCCCCCACG	0.502																																						uc004dcb.3																			0		p.S263R(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(790-792)Gat>Aat		Homo sapiens melanoma antigen family B, 4 (MAGEB4), mRNA.							70.0	66.0	67.0					X																	30261042		2202	4300	6502	SO:0001583	missense	4115							g.chrX:30261042G>A		CCDS14221.1	Xp21.3	2009-03-17			ENSG00000120289	ENSG00000120289			6811	protein-coding gene	gene with protein product	"""melanoma-associated antigen B4"", ""cancer/testis antigen family 3, member 6"""	300153				9441743	Standard	NM_002367		Approved	MGC33144, CT3.6	uc004dcb.3	O15481	OTTHUMG00000021321	ENST00000378982.2:c.790G>A	X.37:g.30261042G>A	ENSP00000368266:p.Asp264Asn					MAGEB1_uc004dcc.3_5'Flank|MAGEB1_uc004dcd.3_5'Flank	p.D264N	NM_002367	NP_002358	O15481	MAGB4_HUMAN			0	986	+			264			MAGE.		B2R9G0|Q6FHH4|Q8IZ00	Missense_Mutation	SNP	ENST00000378982.2	37	c.790G>A	CCDS14221.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.399172	0.42512	.	.	ENSG00000120289	ENST00000378982	T	0.05319	3.46	3.31	-1.83	0.07833	.	0.236971	0.32473	U	0.006042	T	0.12390	0.0301	M	0.62088	1.915	0.09310	N	1	D	0.63880	0.993	D	0.63381	0.914	T	0.09335	-1.0679	10	0.39692	T	0.17	.	4.2094	0.10503	0.4861:0.1803:0.3336:0.0	.	264	O15481	MAGB4_HUMAN	N	264	ENSP00000368266:D264N	ENSP00000368266:D264N	D	+	1	0	MAGEB4	30170963	0.055000	0.20627	0.003000	0.11579	0.018000	0.09664	0.029000	0.13666	-0.643000	0.05473	-0.208000	0.12717	GAT		0.502	MAGEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056159.1	NM_002367		3	70	0	0	0	1	0	3	70				
SETD5	55209	broad.mit.edu	37	3	9512205	9512205	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr3:9512205C>G	ENST00000406341.1	+	18	2977	c.2787C>G	c.(2785-2787)agC>agG	p.S929R	SETD5_ENST00000302463.6_Missense_Mutation_p.S831R|SETD5_ENST00000402466.1_Missense_Mutation_p.S831R|SETD5_ENST00000407969.1_Missense_Mutation_p.S948R|SETD5_ENST00000402198.1_Missense_Mutation_p.S929R			Q9C0A6	SETD5_HUMAN	SET domain containing 5	929										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		ACACTAACAGCTGTGCTGATA	0.493																																						uc003brt.3																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2785-2787)agC>agG		Homo sapiens SET domain containing 5 (SETD5), mRNA.							200.0	188.0	191.0					3																	9512205		1923	4131	6054	SO:0001583	missense	55209							g.chr3:9512205C>G	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.2787C>G	3.37:g.9512205C>G	ENSP00000383939:p.Ser929Arg					SETD5_uc003bru.3_Missense_Mutation_p.S831R|SETD5_uc003brv.3_Missense_Mutation_p.S818R|SETD5_uc010hck.3_Missense_Mutation_p.S411R|SETD5_uc003brx.3_Missense_Mutation_p.S598R	p.S929R	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	18	3222	+	Medulloblastoma(99;0.227)		929					Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	c.2787C>G	CCDS46741.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.31|14.31	2.497258|2.497258	0.44352|0.44352	.|.	.|.	ENSG00000168137|ENSG00000168137	ENST00000399686;ENST00000421188|ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463	.|D;D;D;D;D	.|0.92805	.|-2.79;-3.11;-2.79;-2.78;-3.11	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	.|0.436897	.|0.27531	.|N	.|0.018941	D|D	0.85885|0.85885	0.5801|0.5801	N|N	0.14661|0.14661	0.345|0.345	0.40055|0.40055	D|D	0.975827|0.975827	.|B;B;B	.|0.27416	.|0.178;0.045;0.148	.|B;B;B	.|0.23275	.|0.045;0.045;0.035	T|T	0.83227|0.83227	-0.0065|-0.0065	5|10	.|0.44086	.|T	.|0.13	-1.901|-1.901	18.9705|18.9705	0.92713|0.92713	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|598;831;929	.|B3KXG4;Q9C0A6-3;Q9C0A6	.|.;.;SETD5_HUMAN	V|R	597;260|929;831;929;948;831	.|ENSP00000385852:S929R;ENSP00000384429:S831R;ENSP00000383939:S929R;ENSP00000384114:S948R;ENSP00000302028:S831R	.|ENSP00000302028:S831R	L|S	+|+	1|3	2|2	SETD5|SETD5	9487205|9487205	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	4.271000|4.271000	0.58902|0.58902	2.478000|2.478000	0.83669|0.83669	0.585000|0.585000	0.79938|0.79938	CTG|AGC		0.493	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		8	293	0	0	0	1	0	8	293				
CDCP1	64866	broad.mit.edu	37	3	45153738	45153738	+	Silent	SNP	G	G	A			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr3:45153738G>A	ENST00000296129.1	-	3	626	c.492C>T	c.(490-492)agC>agT	p.S164S	CDCP1_ENST00000425231.2_Silent_p.S164S|CDCP1_ENST00000490471.1_5'Flank	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	164						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		CGATTCGGCCGCTGATGGAGT	0.562																																						uc003com.3																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29						c.(490-492)agC>agT		Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.							148.0	142.0	144.0					3																	45153738		2203	4300	6503	SO:0001819	synonymous_variant	64866					extracellular region|integral to membrane|plasma membrane		g.chr3:45153738G>A	AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"""CD molecules"""	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.492C>T	3.37:g.45153738G>A						CDCP1_uc003con.3_Silent_p.S164S	p.S164S	NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)	2	627	-			164					Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Silent	SNP	ENST00000296129.1	37	c.492C>T	CCDS2727.1																																																																																				0.562	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256748.3	NM_022842		5	249	0	0	0	1	0	5	249				
SYK	6850	broad.mit.edu	37	9	93629413	93629413	+	Splice_Site	SNP	A	A	G			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr9:93629413A>G	ENST00000375754.4	+	7	995	c.847A>G	c.(847-849)Act>Gct	p.T283A	SYK_ENST00000375751.4_Intron|SYK_ENST00000375747.1_Intron|SYK_ENST00000375746.1_Splice_Site_p.T283A	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	283	Interdomain B.				activation of JUN kinase activity (GO:0007257)|adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|B cell receptor signaling pathway (GO:0050853)|beta selection (GO:0043366)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|cell proliferation (GO:0008283)|cellular response to molecule of fungal origin (GO:0071226)|defense response to bacterium (GO:0042742)|enzyme linked receptor protein signaling pathway (GO:0007167)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte activation involved in immune response (GO:0002366)|leukocyte cell-cell adhesion (GO:0007159)|leukotriene biosynthetic process (GO:0019370)|lymph vessel development (GO:0001945)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of bone resorption (GO:0045780)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of arachidonic acid secretion (GO:0090237)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of neutrophil degranulation (GO:0043313)|regulation of phagocytosis (GO:0050764)|regulation of platelet activation (GO:0010543)|regulation of platelet aggregation (GO:0090330)|regulation of superoxide anion generation (GO:0032928)|serotonin secretion by platelet (GO:0002554)|viral process (GO:0016032)	B cell receptor complex (GO:0019815)|cytosol (GO:0005829)|early phagosome (GO:0032009)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|integrin binding (GO:0005178)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						TGGTTTCTAGACTTGGTCAGC	0.438			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""																																	uc004aqz.3				Dom	yes		9	9q22	6850	T	spleen tyrosine kinase			L	"""ETV6, ITK"""		"""MDS, peripheral T-cell lymphoma"""		0				breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						c.e7-1		Homo sapiens spleen tyrosine kinase (SYK), transcript variant 1, mRNA.							175.0	168.0	170.0					9																	93629413		2203	4300	6503	SO:0001630	splice_region_variant	6850				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	T cell receptor complex|cytosol	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity	g.chr9:93629413A>G	L28824	CCDS6688.1, CCDS47992.1	9q22	2013-02-14			ENSG00000165025	ENSG00000165025		"""SH2 domain containing"""	11491	protein-coding gene	gene with protein product		600085				8082894, 1423621	Standard	XM_005252147		Approved		uc004aqz.3	P43405	OTTHUMG00000020200	ENST00000375754.4:c.847-1A>G	9.37:g.93629413A>G						SYK_uc004ara.3_Intron|SYK_uc004arb.3_Intron|SYK_uc004arc.3_Splice_Site_p.T283_splice|SYK_uc011ltt.2_Splice_Site|SYK_uc011ltr.2_Splice_Site|SYK_uc011lts.2_Splice_Site	p.T283_splice	NM_003177	NP_003168	P43405	KSYK_HUMAN			7	1052	+			283			Linker.			Splice_Site	SNP	ENST00000375754.4	37	c.847_splice	CCDS6688.1	.	.	.	.	.	.	.	.	.	.	A	12.32	1.901351	0.33535	.	.	ENSG00000165025	ENST00000375754;ENST00000375746	T;T	0.72615	-0.67;-0.67	4.24	3.06	0.35304	.	0.876721	0.09721	N	0.764365	T	0.58779	0.2146	L	0.34521	1.04	0.35160	D	0.770582	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.55289	-0.8164	9	.	.	.	.	10.5171	0.44896	0.9207:0.0:0.0793:0.0	.	283;283	P43405;C3W981	KSYK_HUMAN;.	A	283	ENSP00000364907:T283A;ENSP00000364898:T283A	.	T	+	1	0	SYK	92669234	0.711000	0.27906	0.993000	0.49108	0.993000	0.82548	0.998000	0.29744	0.930000	0.37217	0.482000	0.46254	ACT		0.438	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053018.1		Missense_Mutation	6	123	0	0	0	1	0	6	123				
AMD1	262	broad.mit.edu	37	6	111210065	111210065	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr6:111210065G>T	ENST00000368885.3	+	3	539	c.203G>T	c.(202-204)aGt>aTt	p.S68I	AMD1_ENST00000368876.1_5'UTR|AMD1_ENST00000451850.2_Intron|AMD1_ENST00000368882.3_Intron|AMD1_ENST00000368877.5_Missense_Mutation_p.S39I	NM_001634.4	NP_001625.2	P17707	DCAM_HUMAN	adenosylmethionine decarboxylase 1	68		Cleavage (non-hydrolytic); by autolysis.			cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|S-adenosylmethioninamine biosynthetic process (GO:0006557)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)|spermine biosynthetic process (GO:0006597)	cytosol (GO:0005829)	adenosylmethionine decarboxylase activity (GO:0004014)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	TGCAGTGAGAGTAGCATGTTT	0.383																																						uc003puk.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8						c.(202-204)aGt>aTt		Homo sapiens adenosylmethionine decarboxylase 1 (AMD1), transcript variant 1, mRNA.	S-Adenosylmethionine(DB00118)						87.0	85.0	86.0					6																	111210065		2203	4300	6503	SO:0001583	missense	262				spermidine biosynthetic process|spermine biosynthetic process	cytosol	adenosylmethionine decarboxylase activity	g.chr6:111210065G>T	M88006	CCDS5086.1, CCDS75504.1, CCDS75505.1	6q21	2014-05-13			ENSG00000123505	ENSG00000123505	4.1.1.50		457	protein-coding gene	gene with protein product		180980	"""S-adenosylmethionine decarboxylase 1"""				Standard	NM_001634		Approved	SAMDC	uc003puk.1	P17707	OTTHUMG00000015369	ENST00000368885.3:c.203G>T	6.37:g.111210065G>T	ENSP00000357880:p.Ser68Ile					AMD1_uc011eay.1_5'UTR|AMD1_uc003pul.1_Intron|AMD1_uc011eaz.1_Missense_Mutation_p.S39I|AMD1_uc011eba.1_Intron	p.S68I	NM_001634	NP_001028231	P17707	DCAM_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	2	525	+		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)	68				Cleavage (non-hydrolytic); by autolysis.	E1P5F7|Q5VXN4|Q5VXN6|Q9BWK4	Missense_Mutation	SNP	ENST00000368885.3	37	c.203G>T	CCDS5086.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.863972	0.91511	.	.	ENSG00000123505	ENST00000368885;ENST00000368877	.	.	.	5.55	5.55	0.83447	S-adenosylmethionine decarboxylase, core (2);S-adenosylmethionine decarboxylase, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.88529	0.6461	H	0.95079	3.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.91411	0.5151	9	0.87932	D	0	.	19.5083	0.95130	0.0:0.0:1.0:0.0	.	39;68	A6NNH3;P17707	.;DCAM_HUMAN	I	68;39	.	ENSP00000357871:S39I	S	+	2	0	AMD1	111316758	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.539000	0.82063	2.611000	0.88343	0.591000	0.81541	AGT		0.383	AMD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041816.1			3	128	0	0	0	1	0	3	128				
AHNAK2	113146	broad.mit.edu	37	14	105411479	105411479	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr14:105411479G>A	ENST00000333244.5	-	7	10428	c.10309C>T	c.(10309-10311)Ccc>Tcc	p.P3437S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3437						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCACGCTGGGCAGAGACACC	0.622																																						uc010axc.1																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(10309-10311)Ccc>Tcc		Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.							150.0	162.0	158.0					14																	105411479		1933	4149	6082	SO:0001583	missense	113146					nucleus		g.chr14:105411479G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.10309C>T	14.37:g.105411479G>A	ENSP00000353114:p.Pro3437Ser					AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.P3337S	p.P3437S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		6	10429	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3437					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.10309C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	15.75	2.926319	0.52759	.	.	ENSG00000185567	ENST00000333244	T	0.03152	4.03	4.46	0.459	0.16678	.	.	.	.	.	T	0.09113	0.0225	H	0.94847	3.59	0.09310	N	1	B	0.28419	0.211	B	0.26094	0.066	T	0.18429	-1.0337	9	0.59425	D	0.04	.	4.2396	0.10642	0.2401:0.0:0.4877:0.2722	.	3437	Q8IVF2	AHNK2_HUMAN	S	3437	ENSP00000353114:P3437S	ENSP00000353114:P3437S	P	-	1	0	AHNAK2	104482524	0.018000	0.18449	0.004000	0.12327	0.032000	0.12392	0.696000	0.25541	0.028000	0.15324	-0.339000	0.08088	CCC		0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		6	355	0	0	0	1	0	6	355				
GMPS	8833	broad.mit.edu	37	3	155628609	155628609	+	Missense_Mutation	SNP	G	G	A	rs371983046		TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr3:155628609G>A	ENST00000496455.2	+	6	990	c.655G>A	c.(655-657)Gtg>Atg	p.V219M	GMPS_ENST00000295920.7_Missense_Mutation_p.V120M	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	219	GMPS ATP-PPase. {ECO:0000255|PROSITE- ProRule:PRU00886}.				glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|GMP synthase (glutamine-hydrolyzing) activity (GO:0003922)|GMP synthase activity (GO:0003921)|pyrophosphatase activity (GO:0016462)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamine(DB00130)	AACCTTCACCGTGCAGAACAG	0.393			T	MLL	AML																																Ovarian(153;896 1876 4149 15499 28134)	uc003faq.3				Dom	yes		3	3q24	8833	T	guanine monphosphate synthetase			L	MLL		AML		0				breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(655-657)Gtg>Atg		Homo sapiens guanine monphosphate synthetase (GMPS), mRNA.	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	G	MET/VAL	0,3752		0,0,1876	104.0	101.0	102.0		655	6.0	1.0	3		102	1,8211		0,1,4105	no	missense	GMPS	NM_003875.2	21	0,1,5981	AA,AG,GG		0.0122,0.0,0.0084	benign	219/694	155628609	1,11963	1876	4106	5982	SO:0001583	missense	8833				glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity	g.chr3:155628609G>A	U10860	CCDS46941.1	3q25.31	2013-06-18	2013-06-18		ENSG00000163655	ENSG00000163655	6.3.5.2		4378	protein-coding gene	gene with protein product	"""GMP synthase"""	600358	"""guanine monphosphate synthetase"""			8089153, 9195163	Standard	NM_003875		Approved		uc003faq.3	P49915	OTTHUMG00000158551	ENST00000496455.2:c.655G>A	3.37:g.155628609G>A	ENSP00000419851:p.Val219Met					GMPS_uc011bom.2_Missense_Mutation_p.V120M	p.V219M	NM_003875	NP_003866	P49915	GUAA_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		5	990	+			219					A8K639|B4DXV7|F8W720	Missense_Mutation	SNP	ENST00000496455.2	37	c.655G>A	CCDS46941.1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.520132	0.27211	0.0	1.22E-4	ENSG00000163655	ENST00000496455;ENST00000295920;ENST00000537975;ENST00000541628	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.08582	0.0213	N	0.00069	-2.28	0.80722	D	1	P;P	0.37038	0.524;0.579	B;B	0.21917	0.022;0.037	T	0.54430	-0.8295	9	0.02654	T	1	-13.2532	20.5373	0.99239	0.0:0.0:1.0:0.0	.	120;219	F8W720;P49915	.;GUAA_HUMAN	M	219;120;168;219	.	ENSP00000295920:V120M	V	+	1	0	GMPS	157111303	1.000000	0.71417	0.986000	0.45419	0.787000	0.44495	9.338000	0.96553	2.857000	0.98124	0.650000	0.86243	GTG		0.393	GMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351260.2			3	124	0	0	0	1	0	3	124				
GRIN2D	2906	broad.mit.edu	37	19	48917682	48917682	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr19:48917682G>C	ENST00000263269.3	+	5	1341	c.1253G>C	c.(1252-1254)cGc>cCc	p.R418P		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	418					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CTGTGGTCCCGCTATGGTCGC	0.627																																						uc002pjc.4																			0				autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37						c.(1252-1254)cGc>cCc		Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2D (GRIN2D), mRNA.	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)						39.0	35.0	36.0					19																	48917682		2203	4300	6503	SO:0001583	missense	2906					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding	g.chr19:48917682G>C	U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4588	protein-coding gene	gene with protein product	"""N-methyl-d-aspartate receptor subunit 2D"""	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.1253G>C	19.37:g.48917682G>C	ENSP00000263269:p.Arg418Pro						p.R418P	NM_000836	NP_000827	O15399	NMDE4_HUMAN		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	4	1341	+		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	418						Missense_Mutation	SNP	ENST00000263269.3	37	c.1253G>C	CCDS12719.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.498361	0.85069	.	.	ENSG00000105464	ENST00000263269	T	0.07908	3.15	4.31	4.31	0.51392	.	0.000000	0.85682	D	0.000000	T	0.32194	0.0821	M	0.82823	2.61	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.16778	-1.0391	10	0.72032	D	0.01	.	16.0927	0.81102	0.0:0.0:1.0:0.0	.	418	O15399	NMDE4_HUMAN	P	418	ENSP00000263269:R418P	ENSP00000263269:R418P	R	+	2	0	GRIN2D	53609494	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.640000	0.98453	2.413000	0.81919	0.561000	0.74099	CGC		0.627	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1			6	19	0	0	0	1	0	6	19				
PITPNM1	9600	broad.mit.edu	37	11	67267884	67267884	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr11:67267884G>C	ENST00000534749.1	-	5	837	c.649C>G	c.(649-651)Cgg>Ggg	p.R217G	PITPNM1_ENST00000356404.3_Missense_Mutation_p.R217G|PITPNM1_ENST00000436757.2_Missense_Mutation_p.R217G			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	217					brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						AGCATCACCCGACGCAGACCT	0.657																																					GBM(28;144 709 4607 5525)	uc001olx.3																			0		p.R217Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						c.(649-651)Cgg>Ggg		Homo sapiens phosphatidylinositol transfer protein, membrane-associated 1 (PITPNM1), transcript variant 1, mRNA.							56.0	61.0	59.0					11																	67267884		2199	4285	6484	SO:0001583	missense	9600				brain development|lipid metabolic process|phototransduction|protein transport	Golgi cisterna membrane|cleavage furrow|endoplasmic reticulum membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity	g.chr11:67267884G>C	X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"""PYK2 N-terminal domain-interacting receptor 2"", ""retinal degeneration B alpha 1"""	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.649C>G	11.37:g.67267884G>C	ENSP00000437286:p.Arg217Gly					PITPNM1_uc001olw.3_5'Flank|PITPNM1_uc001oly.3_Missense_Mutation_p.R217G|PITPNM1_uc001olz.3_Missense_Mutation_p.R217G	p.R217G	NM_004910	NP_004901	O00562	PITM1_HUMAN			4	838	-			217					A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Missense_Mutation	SNP	ENST00000534749.1	37	c.649C>G	CCDS31620.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.844529	0.32606	.	.	ENSG00000110697	ENST00000534749;ENST00000436757;ENST00000356404	T;T;T	0.52983	0.64;0.64;0.64	4.02	-2.38	0.06622	START-like domain (1);	0.143236	0.31233	N	0.008004	T	0.58337	0.2115	M	0.79614	2.46	0.28005	N	0.935138	P;P	0.47545	0.706;0.897	B;P	0.53593	0.405;0.73	T	0.64317	-0.6436	10	0.87932	D	0	-30.394	14.641	0.68726	0.0:0.0:0.1896:0.8104	.	217;217	O00562-2;O00562	.;PITM1_HUMAN	G	217	ENSP00000437286:R217G;ENSP00000398787:R217G;ENSP00000348772:R217G	ENSP00000348772:R217G	R	-	1	2	PITPNM1	67024460	0.998000	0.40836	0.286000	0.24833	0.870000	0.49936	2.714000	0.47202	-0.187000	0.10516	0.555000	0.69702	CGG		0.657	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1	NM_004910		65	112	0	0	0	1	0	65	112				
GPR83	10888	broad.mit.edu	37	11	94113644	94113644	+	Silent	SNP	G	G	A			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr11:94113644G>A	ENST00000243673.2	-	4	1114	c.943C>T	c.(943-945)Ctg>Ttg	p.L315L	GPR83_ENST00000539203.2_Silent_p.L273L	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	315					response to glucocorticoid (GO:0051384)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTGCTGGACAGGAGGAGGACG	0.537																																						uc001pet.2																			0				NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19						c.(943-945)Ctg>Ttg		Homo sapiens G protein-coupled receptor 83 (GPR83), mRNA.							147.0	112.0	124.0					11																	94113644		2201	4298	6499	SO:0001819	synonymous_variant	10888					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr11:94113644G>A	AF236081	CCDS8297.1	11q21	2012-08-21	2003-07-30	2003-08-01	ENSG00000123901	ENSG00000123901		"""GPCR / Class A : Orphans"""	4523	protein-coding gene	gene with protein product		605569	"""G protein-coupled receptor 72"""	GPR72		10760605, 11060465	Standard	NM_016540		Approved		uc001pet.2	Q9NYM4	OTTHUMG00000167779	ENST00000243673.2:c.943C>T	11.37:g.94113644G>A							p.L315L	NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN			3	1115	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	315					B0M0K5|Q6NWR4|Q9P1Y8	Silent	SNP	ENST00000243673.2	37	c.943C>T	CCDS8297.1																																																																																				0.537	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396232.1	NM_016540		3	169	0	0	0	1	0	3	169				
YWHAE	7531	broad.mit.edu	37	17	1264494	1264494	+	Missense_Mutation	SNP	T	T	A			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr17:1264494T>A	ENST00000264335.8	-	4	737	c.470A>T	c.(469-471)gAt>gTt	p.D157V	YWHAE_ENST00000571732.1_Missense_Mutation_p.D135V|YWHAE_ENST00000573026.1_Intron|YWHAE_ENST00000575977.1_Intron	NM_006761.4	NP_006752.1	P62258	1433E_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon	157					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cerebral cortex development (GO:0021987)|G2/M transition of mitotic cell cycle (GO:0000086)|hippo signaling (GO:0035329)|hippocampus development (GO:0021766)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|mitotic cell cycle (GO:0000278)|negative regulation of peptidyl-serine dephosphorylation (GO:1902309)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|substantia nigra development (GO:0021762)|viral process (GO:0016032)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|membrane (GO:0016020)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|ion channel binding (GO:0044325)|MHC class II protein complex binding (GO:0023026)|phosphoprotein binding (GO:0051219)|phosphoserine binding (GO:0050815)|poly(A) RNA binding (GO:0044822)|potassium channel regulator activity (GO:0015459)|protein heterodimerization activity (GO:0046982)			kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		CATTGCAATATCACTAGCAGC	0.463			T	"""FAM22a, FAM22B"""	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome																															uc002fsj.3				Dom	yes		17	17p13.3	7531	T	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide (14-3-3 epsilon)"""	yes	Miller-Dieker lissencephaly syndrome	M	"""FAM22a, FAM22B"""		edometrial stromal sarcoma		0				kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14						c.(469-471)gAt>gTt		Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide (YWHAE), transcript variant 1, mRNA.							134.0	127.0	129.0					17																	1264494		2203	4300	6503	SO:0001583	missense	7531				G2/M transition of mitotic cell cycle|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway	cytosol|melanosome	histone deacetylase binding|phosphoserine binding	g.chr17:1264494T>A	U54778	CCDS11001.1	17p13.3	2013-12-03	2013-12-03		ENSG00000108953	ENSG00000108953			12851	protein-coding gene	gene with protein product	"""14-3-3 epsilon"""	605066	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide"""			9371399	Standard	NM_006761		Approved	FLJ45465	uc002fsj.3	P62258	OTTHUMG00000134316	ENST00000264335.8:c.470A>T	17.37:g.1264494T>A	ENSP00000264335:p.Asp157Val					YWHAE_uc002fsk.3_Missense_Mutation_p.D135V|YWHAE_uc010vqh.2_Non-coding_Transcript|YWHAE_uc010vqi.2_Intron	p.D157V	NM_006761	NP_006752	P62258	1433E_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)	3	622	-			157					B3KY71|D3DTH5|P29360|P42655|Q4VJB6|Q53XZ5|Q63631|Q7M4R4	Missense_Mutation	SNP	ENST00000264335.8	37	c.470A>T	CCDS11001.1	.	.	.	.	.	.	.	.	.	.	T	17.88	3.497064	0.64186	.	.	ENSG00000108953	ENST00000264335;ENST00000414131	T	0.48201	0.82	5.39	5.39	0.77823	14-3-3 domain (4);	0.000000	0.85682	U	0.000000	T	0.55955	0.1953	M	0.86864	2.845	0.80722	D	1	B	0.06786	0.001	B	0.20384	0.029	T	0.60010	-0.7346	10	0.87932	D	0	0.0763	13.4443	0.61131	0.0:0.0:0.0:1.0	.	157	P62258	1433E_HUMAN	V	157;135	ENSP00000264335:D157V	ENSP00000264335:D157V	D	-	2	0	YWHAE	1211244	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.992000	0.88273	2.057000	0.61298	0.529000	0.55759	GAT		0.463	YWHAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259354.3	NM_006761		10	256	0	0	0	1	0	10	256				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333	NP_004324	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		35	72	0	0	0	1	0	35	72				
METRN	79006	broad.mit.edu	37	16	767142	767142	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr16:767142G>A	ENST00000568223.2	+	4	812	c.637G>A	c.(637-639)Gcc>Acc	p.A213T	METRN_ENST00000568415.1_Missense_Mutation_p.A80T	NM_024042.2	NP_076947.1	Q9UJH8	METRN_HUMAN	meteorin, glial cell differentiation regulator	213					glial cell differentiation (GO:0010001)|positive regulation of axonogenesis (GO:0050772)	extracellular space (GO:0005615)				skin(1)	1		Hepatocellular(780;0.00335)				TGTGGTGGCCGCCCGTGTCCT	0.662																																						uc002cjd.3																			0				skin(1)	1						c.(637-639)Gcc>Acc		Homo sapiens meteorin, glial cell differentiation regulator (METRN), mRNA.							25.0	33.0	30.0					16																	767142		2178	4286	6464	SO:0001583	missense	79006							g.chr16:767142G>A	BC000662	CCDS10422.1	16p13.3	2008-02-05	2004-11-26	2004-12-01	ENSG00000103260	ENSG00000103260			14151	protein-coding gene	gene with protein product		610998	"""chromosome 16 open reading frame 23"""	C16orf23		15085178	Standard	NM_024042		Approved	MGC2601	uc002cjd.3	Q9UJH8	OTTHUMG00000047851	ENST00000568223.2:c.637G>A	16.37:g.767142G>A	ENSP00000455068:p.Ala213Thr					AL360260_uc010bra.2_5'Flank	p.A213T	NM_024042	NP_076947	Q9UJH8	METRN_HUMAN			3	754	+		Hepatocellular(780;0.00335)	213					Q9UJH9	Missense_Mutation	SNP	ENST00000568223.2	37	c.637G>A	CCDS10422.1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.562809	0.27915	.	.	ENSG00000103260	ENST00000219542	.	.	.	4.68	-5.8	0.02347	.	0.426263	0.24983	N	0.034060	T	0.19525	0.0469	L	0.27053	0.805	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.04825	-1.0924	9	0.35671	T	0.21	.	4.335	0.11081	0.2599:0.1075:0.5344:0.0983	.	213	Q9UJH8	METRN_HUMAN	T	213	.	ENSP00000219542:A213T	A	+	1	0	METRN	707143	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.148000	0.10219	-0.744000	0.04778	-0.259000	0.10710	GCC		0.662	METRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109074.4	NM_024042		3	33	0	0	0	1	0	3	33				
WDR33	55339	broad.mit.edu	37	2	128466403	128466403	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr2:128466403G>C	ENST00000322313.4	-	21	3787	c.3629C>G	c.(3628-3630)tCc>tGc	p.S1210C		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1210					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GCTGGCTGGGGAATGACCGTC	0.557																																						uc002tpg.2																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(3628-3630)tCc>tGc		Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.							67.0	66.0	66.0					2																	128466403		2203	4300	6503	SO:0001583	missense	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128466403G>C		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.3629C>G	2.37:g.128466403G>C	ENSP00000325377:p.Ser1210Cys						p.S1210C	NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	20	3828	-	Colorectal(110;0.1)		1210					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	c.3629C>G	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.646751	0.87958	.	.	ENSG00000136709	ENST00000322313	D	0.93488	-3.23	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	D	0.94295	0.8167	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.94937	0.8088	10	0.59425	D	0.04	-8.6502	19.5351	0.95247	0.0:0.0:1.0:0.0	.	1210	Q9C0J8	WDR33_HUMAN	C	1210	ENSP00000325377:S1210C	ENSP00000325377:S1210C	S	-	2	0	WDR33	128182873	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	9.320000	0.96346	2.640000	0.89533	0.655000	0.94253	TCC		0.557	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		28	56	0	0	0	1	0	28	56				
TNN	63923	broad.mit.edu	37	1	175046794	175046794	+	Silent	SNP	G	G	A			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr1:175046794G>A	ENST00000239462.4	+	2	353	c.240G>A	c.(238-240)gaG>gaA	p.E80E		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	80					axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGGCCAGGGAGGAACAGAACA	0.607																																						uc001gkl.1																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(238-240)gaG>gaA		Homo sapiens tenascin N (TNN), mRNA.							63.0	52.0	56.0					1																	175046794		2203	4300	6503	SO:0001819	synonymous_variant	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175046794G>A	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.240G>A	1.37:g.175046794G>A						TNN_uc010pmx.1_Silent_p.E80E	p.E80E	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	1	353	+		Breast(1374;0.000962)	80					B9EGP3|Q5R360	Silent	SNP	ENST00000239462.4	37	c.240G>A	CCDS30943.1																																																																																				0.607	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		3	72	0	0	0	1	0	3	72				
DOCK4	9732	broad.mit.edu	37	7	111474657	111474657	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr7:111474657delT	ENST00000437633.1	-	26	3078	c.2822delA	c.(2821-2823)aagfs	p.K941fs	DOCK4_ENST00000428084.1_Frame_Shift_Del_p.K941fs	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	941					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TAGTTCTTCCTTTGTATTAAA	0.313																																						uc003vfy.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.(2929-2931)aagfs		Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.							44.0	44.0	44.0					7																	111474657		1814	4054	5868	SO:0001589	frameshift_variant	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding	g.chr7:111474657delT		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.2822delA	7.37:g.111474657delT	ENSP00000404179:p.Lys941fs					DOCK4_uc003vfw.3_Frame_Shift_Del_p.K382fs|DOCK4_uc003vfx.3_Frame_Shift_Del_p.K941fs	p.K977fs	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN			26	3199	-		Acute lymphoblastic leukemia(1;0.0441)	941					O14584|O94824|Q8NB45	Frame_Shift_Del	DEL	ENST00000437633.1	37	c.2930delA	CCDS47688.1																																																																																				0.313	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		2	4						2	4	---	---	---	---
MX2	4600	broad.mit.edu	37	21	42748992	42748992	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr21:42748992delG	ENST00000330714.3	+	2	343	c.159delG	c.(157-159)gagfs	p.E53fs	MX2_ENST00000543692.1_Frame_Shift_Del_p.E53fs	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2	53					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|GTP catabolic process (GO:0006184)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of nucleocytoplasmic transport (GO:0046822)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				AGGGGGCAGAGAAGGACGCTG	0.512																																						uc002yzf.1																			0				breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34						c.(157-159)gagfs		Homo sapiens myxovirus (influenza virus) resistance 2 (mouse) (MX2), mRNA.							98.0	105.0	103.0					21																	42748992		2203	4300	6503	SO:0001589	frameshift_variant	4600				response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity	g.chr21:42748992delG		CCDS13672.1	21q22.3	2014-07-15	2014-07-15		ENSG00000183486	ENSG00000183486			7533	protein-coding gene	gene with protein product	"""interferon-regulated resistance GTP-binding protein MXB"", ""second interferon-induced protein p78"""	147890	"""myxovirus (influenza) resistance 2, homolog of murine"", ""myxovirus (influenza virus) resistance 2 (mouse)"""			2481229, 8798556	Standard	NM_002463		Approved	MXB	uc002yzf.1	P20592	OTTHUMG00000086753	ENST00000330714.3:c.159delG	21.37:g.42748992delG	ENSP00000333657:p.Glu53fs					MX2_uc011aer.1_Non-coding_Transcript	p.E53fs	NM_002463	NP_002454	P20592	MX2_HUMAN			1	263	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)	53					B7Z5D3|D3DSI7	Frame_Shift_Del	DEL	ENST00000330714.3	37	c.159delG	CCDS13672.1																																																																																				0.512	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195147.1	NM_002463		85	157						85	157	---	---	---	---
