#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
PRKCQ	5588	broad.mit.edu	37	10	6506274	6506274	+	Splice_Site	SNP	C	C	T			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr10:6506274C>T	ENST00000263125.5	-	13	1545		c.e13+1		PRKCQ_ENST00000397176.2_Splice_Site|PRKCQ_ENST00000539722.1_Splice_Site	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta						apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	AAGCCTCTTACGTCGCTCTGG	0.463																																					Ovarian(50;572 1126 10530 25349 30594)	ENST00000263125.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						c.e13+1		protein kinase C, theta							263.0	271.0	269.0					10																	6506274		2203	4300	6503	SO:0001630	splice_region_variant	5588				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr10:6506274C>T	L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.1445+1G>A	10.37:g.6506274C>T						PRKCQ_ENST00000397176.2_Splice_Site|PRKCQ_ENST00000539722.1_Splice_Site		NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN			13	1545	-								B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Splice_Site	SNP	ENST00000263125.5	37		CCDS7079.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.598162	0.46318	.	.	ENSG00000065675	ENST00000263125;ENST00000397176;ENST00000397178;ENST00000539722	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5498	0.91060	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRKCQ	6546280	1.000000	0.71417	0.999000	0.59377	0.186000	0.23388	7.519000	0.81809	2.369000	0.80426	0.563000	0.77884	.		0.463	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046665.1	NM_006257	Intron	50	210	0	0	0	1	0	50	210				
ZNF497	162968	broad.mit.edu	37	19	58868541	58868541	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr19:58868541C>T	ENST00000311044.3	-	3	649	c.461G>A	c.(460-462)cGc>cAc	p.R154H	A1BG-AS1_ENST00000593960.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|CTD-2619J13.9_ENST00000599952.1_RNA|ZNF497_ENST00000425453.3_Missense_Mutation_p.R154H|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000593374.1_RNA	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	154					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		GCTGTGGATGCGCTGGTGCTG	0.672																																						ENST00000311044.3																			0				central_nervous_system(2)|lung(3)|skin(2)	7						c.(460-462)cGc>cAc		zinc finger protein 497							36.0	32.0	33.0					19																	58868541		2202	4300	6502	SO:0001583	missense	162968				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58868541C>T	AK126727	CCDS12977.1	19q13.43	2013-01-08			ENSG00000174586	ENSG00000174586		"""Zinc fingers, C2H2-type"""	23714	protein-coding gene	gene with protein product							Standard	NM_198458		Approved	FLJ44773	uc002qsi.2	Q6ZNH5		ENST00000311044.3:c.461G>A	19.37:g.58868541C>T	ENSP00000311183:p.Arg154His					ZNF497_ENST00000425453.3_Missense_Mutation_p.R154H|CTD-2619J13.8_ENST00000599109.1_RNA	p.R154H	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)	3	649	-		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	154					Q05AG8|Q0VF48|Q6ZTD2|Q9UIA8	Missense_Mutation	SNP	ENST00000311044.3	37	c.461G>A	CCDS12977.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.986243	0.53934	.	.	ENSG00000174586	ENST00000311044;ENST00000425453	T;T	0.25749	1.78;1.78	0.934	0.934	0.19477	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38161	0.1030	L	0.49455	1.56	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	T	0.10965	-1.0607	9	0.87932	D	0	.	4.7929	0.13257	0.0:0.7704:0.0:0.2296	.	154	Q6ZNH5	ZN497_HUMAN	H	154	ENSP00000311183:R154H;ENSP00000402815:R154H	ENSP00000311183:R154H	R	-	2	0	ZNF497	63560353	0.000000	0.05858	0.010000	0.14722	0.281000	0.26958	1.073000	0.30691	0.777000	0.33496	0.205000	0.17691	CGC		0.672	ZNF497-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466942.2	NM_198458		5	18	0	0	0	1	0	5	18				
FAM172A	83989	broad.mit.edu	37	5	93159946	93159946	+	Missense_Mutation	SNP	T	T	A	rs138887089	byFrequency	TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr5:93159946T>A	ENST00000395965.3	-	8	956	c.814A>T	c.(814-816)Atc>Ttc	p.I272F	FAM172A_ENST00000509163.1_Missense_Mutation_p.I226F|FAM172A_ENST00000505869.1_Missense_Mutation_p.I162F|FAM172A_ENST00000509739.1_Missense_Mutation_p.I125F	NM_032042.5	NP_114431.2	Q8WUF8	F172A_HUMAN	family with sequence similarity 172, member A	272						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)				endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						CAAACATAGATTGCATGTTCT	0.348																																						ENST00000395965.3																			0				endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						c.(814-816)Atc>Ttc		family with sequence similarity 172, member A							134.0	126.0	129.0					5																	93159946		2203	4300	6503	SO:0001583	missense	83989					endoplasmic reticulum|extracellular region		g.chr5:93159946T>A		CCDS4069.1, CCDS54879.1, CCDS54880.1	5q15	2008-06-16	2008-06-16	2008-06-16	ENSG00000113391	ENSG00000113391			25365	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 21"""	C5orf21		11230166	Standard	NM_032042		Approved	DKFZP564D172	uc010jbd.3	Q8WUF8	OTTHUMG00000131329	ENST00000395965.3:c.814A>T	5.37:g.93159946T>A	ENSP00000379294:p.Ile272Phe					FAM172A_ENST00000505869.1_Missense_Mutation_p.I162F|FAM172A_ENST00000509739.1_Missense_Mutation_p.I125F|FAM172A_ENST00000509163.1_Missense_Mutation_p.I226F	p.I272F	NM_032042.5	NP_114431.2	Q8WUF8	F172A_HUMAN			8	956	-			272					B2R7C6|B4DJ14|B4DLG5|Q9H0U8	Missense_Mutation	SNP	ENST00000395965.3	37	c.814A>T	CCDS4069.1	.	.	.	.	.	.	.	.	.	.	t	13.03	2.115501	0.37339	.	.	ENSG00000113391	ENST00000395965;ENST00000505869;ENST00000509739;ENST00000509163	T;T	0.44881	0.91;0.92	5.91	-11.8	0.00035	.	0.948372	0.08921	N	0.874419	T	0.24851	0.0603	L	0.27053	0.805	0.20074	N	0.999937	P;B;B;B	0.39862	0.692;0.161;0.05;0.03	B;B;B;B	0.41946	0.371;0.067;0.067;0.016	T	0.50734	-0.8793	10	0.56958	D	0.05	0.3509	8.5346	0.33355	0.0711:0.1456:0.1422:0.6412	.	30;125;162;272	B4DKR7;B4DMI0;B4DJ14;Q8WUF8	.;.;.;F172A_HUMAN	F	272;162;125;226	ENSP00000379294:I272F;ENSP00000423841:I226F	ENSP00000379294:I272F	I	-	1	0	FAM172A	93185702	0.000000	0.05858	0.000000	0.03702	0.948000	0.59901	-1.897000	0.01603	-2.918000	0.00305	-1.758000	0.00672	ATC		0.348	FAM172A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254100.3	NM_032042		49	55	0	0	0	1	0	49	55				
ASIC5	51802	broad.mit.edu	37	4	156773462	156773462	+	Missense_Mutation	SNP	C	C	A			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr4:156773462C>A	ENST00000537611.2	-	4	638	c.592G>T	c.(592-594)Gca>Tca	p.A198S		NM_017419.2	NP_059115.1	Q9NY37	ASIC5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	198					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrogen ion channel activity (GO:0015252)|ligand-gated sodium channel activity (GO:0015280)										AAGACATGTGCAAAATCCTCC	0.323																																						ENST00000537611.2																			0											c.(592-594)Gca>Tca		acid-sensing (proton-gated) ion channel family member 5							74.0	74.0	74.0					4																	156773462		2203	4300	6503	SO:0001583	missense	51802					integral to membrane|plasma membrane		g.chr4:156773462C>A	AJ252011	CCDS3793.1	4q32.1	2012-10-03	2012-03-02	2012-03-02	ENSG00000256394	ENSG00000256394			17537	protein-coding gene	gene with protein product			"""amiloride-sensitive cation channel 5, intestinal"""	ACCN5		10767424	Standard	NM_017419		Approved	INAC, HINAC	uc003ipe.1	Q9NY37	OTTHUMG00000161941	ENST00000537611.2:c.592G>T	4.37:g.156773462C>A	ENSP00000442477:p.Ala198Ser						p.A198S	NM_017419.2	NP_059115.1	Q9NY37	ACCN5_HUMAN			4	638	-			198						Missense_Mutation	SNP	ENST00000537611.2	37	c.592G>T	CCDS3793.1	.	.	.	.	.	.	.	.	.	.	C	8.202	0.798378	0.16397	.	.	ENSG00000256394	ENST00000537611	T	0.61980	0.06	4.79	2.91	0.33838	.	0.398487	0.22311	N	0.061738	T	0.39091	0.1065	N	0.20766	0.605	0.09310	N	0.999993	B	0.09022	0.002	B	0.20384	0.029	T	0.19257	-1.0311	10	0.10636	T	0.68	-7.1586	5.4847	0.16743	0.0:0.6263:0.163:0.2107	.	198	Q9NY37	ACCN5_HUMAN	S	198	ENSP00000442477:A198S	ENSP00000264432:A198S	A	-	1	0	ACCN5	156992912	1.000000	0.71417	0.295000	0.24960	0.966000	0.64601	1.755000	0.38379	0.599000	0.29845	0.557000	0.71058	GCA		0.323	ASIC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366464.1			6	67	1	0	0.248553	1	0.248553	6	67				
SLC19A1	6573	broad.mit.edu	37	21	46935587	46935587	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr21:46935587C>G	ENST00000311124.4	-	6	1913	c.1761G>C	c.(1759-1761)caG>caC	p.Q587H	SLC19A1_ENST00000485649.2_Missense_Mutation_p.Q547H|SLC19A1_ENST00000468508.1_5'Flank|SLC19A1_ENST00000567670.1_Intron|SLC19A1_ENST00000380010.4_Intron	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	587					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350)			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	Methotrexate(DB00563)|Pralatrexate(DB06813)	GGTTCACATTCTGAACACCGT	0.617																																						ENST00000311124.4																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10						c.(1759-1761)caG>caC		solute carrier family 19 (folate transporter), member 1							68.0	68.0	68.0					21																	46935587		2203	4300	6503	SO:0001583	missense	6573				folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity	g.chr21:46935587C>G	U15939	CCDS13725.1, CCDS56217.1, CCDS56218.1	21q22.3	2013-05-22			ENSG00000173638	ENSG00000173638		"""Solute carriers"""	10937	protein-coding gene	gene with protein product		600424				9570943	Standard	NM_194255		Approved	FOLT	uc002zhl.2	P41440	OTTHUMG00000090397	ENST00000311124.4:c.1761G>C	21.37:g.46935587C>G	ENSP00000308895:p.Gln587His					SLC19A1_ENST00000485649.2_Missense_Mutation_p.Q547H|SLC19A1_ENST00000567670.1_Intron|SLC19A1_ENST00000380010.4_Intron	p.Q587H	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN		Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	6	1913	-			587					B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Missense_Mutation	SNP	ENST00000311124.4	37	c.1761G>C	CCDS13725.1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.927668	0.52759	.	.	ENSG00000173638	ENST00000311124;ENST00000485649	D;D	0.84442	-1.83;-1.85	2.97	-1.49	0.08718	.	.	.	.	.	T	0.71685	0.3369	N	0.19112	0.55	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.06405	0.002;0.002	T	0.59198	-0.7499	9	0.87932	D	0	.	6.4444	0.21867	0.0:0.3056:0.5662:0.1282	.	547;587	B7Z8C3;P41440	.;S19A1_HUMAN	H	587;547	ENSP00000308895:Q587H;ENSP00000441772:Q547H	ENSP00000308895:Q587H	Q	-	3	2	SLC19A1	45760015	0.001000	0.12720	0.000000	0.03702	0.299000	0.27559	0.532000	0.23067	-0.335000	0.08451	0.591000	0.81541	CAG		0.617	SLC19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206796.1			15	50	0	0	0	1	0	15	50				
ITGA10	8515	broad.mit.edu	37	1	145536959	145536959	+	Missense_Mutation	SNP	A	A	T			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr1:145536959A>T	ENST00000369304.3	+	18	2514	c.2339A>T	c.(2338-2340)cAa>cTa	p.Q780L	ITGA10_ENST00000538811.1_Missense_Mutation_p.Q649L|ITGA10_ENST00000539363.1_Missense_Mutation_p.Q637L	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	780					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ACCTCTATACAAAAGCTGGTC	0.537																																						ENST00000369304.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(2338-2340)cAa>cTa		integrin, alpha 10							114.0	101.0	106.0					1																	145536959		2203	4300	6503	SO:0001583	missense	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145536959A>T	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.2339A>T	1.37:g.145536959A>T	ENSP00000358310:p.Gln780Leu					ITGA10_ENST00000538811.1_Missense_Mutation_p.Q649L|ITGA10_ENST00000539363.1_Missense_Mutation_p.Q637L	p.Q780L	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN			18	2514	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		780					B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	ENST00000369304.3	37	c.2339A>T	CCDS918.1	.	.	.	.	.	.	.	.	.	.	A	6.885	0.532724	0.13127	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	T;T;T	0.47177	0.85;0.85;0.85	5.43	-1.2	0.09554	Integrin alpha-2 (1);	0.643654	0.15588	N	0.254543	T	0.08268	0.0206	N	0.08118	0	0.09310	N	1	B;B;B;B	0.28783	0.035;0.007;0.222;0.018	B;B;B;B	0.25987	0.043;0.026;0.053;0.065	T	0.35176	-0.9799	10	0.22706	T	0.39	.	9.0054	0.36109	0.5704:0.0:0.4296:0.0	.	746;649;637;780	F5H3T9;F5GY13;B2RTV5;O75578	.;.;.;ITA10_HUMAN	L	780;746;637;649	ENSP00000358310:Q780L;ENSP00000439894:Q637L;ENSP00000440011:Q649L	ENSP00000358310:Q780L	Q	+	2	0	ITGA10	144248316	0.001000	0.12720	0.004000	0.12327	0.015000	0.08874	0.030000	0.13688	-0.386000	0.07821	-0.417000	0.06048	CAA		0.537	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		22	86	0	0	0	1	0	22	86				
DLC1	10395	broad.mit.edu	37	8	12957976	12957976	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr8:12957976C>T	ENST00000276297.4	-	9	2279	c.1870G>A	c.(1870-1872)Gtt>Att	p.V624I	DLC1_ENST00000358919.2_Missense_Mutation_p.V187I|DLC1_ENST00000512044.2_Missense_Mutation_p.V221I|DLC1_ENST00000520226.1_Missense_Mutation_p.V113I	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	624					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GAGGAGCAAACGCTGATGACG	0.632																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(1870-1872)Gtt>Att		deleted in liver cancer 1							65.0	67.0	66.0					8																	12957976		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12957976C>T	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.1870G>A	8.37:g.12957976C>T	ENSP00000276297:p.Val624Ile					DLC1_ENST00000358919.2_Missense_Mutation_p.V187I|DLC1_ENST00000512044.2_Missense_Mutation_p.V221I|DLC1_ENST00000520226.1_Missense_Mutation_p.V113I	p.V624I	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			9	2279	-			624					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.1870G>A	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	C	7.848	0.723354	0.15439	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.06068	3.55;3.36;3.35;3.39	4.95	2.18	0.27775	.	0.546584	0.19500	N	0.112746	T	0.04003	0.0112	N	0.16656	0.425	0.80722	D	1	B;B;B	0.09022	0.002;0.0;0.001	B;B;B	0.06405	0.002;0.0;0.001	T	0.45920	-0.9228	10	0.23302	T	0.38	.	9.4182	0.38534	0.0:0.6509:0.0:0.3491	.	624;221;187	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	I	624;187;221;113	ENSP00000276297:V624I;ENSP00000351797:V187I;ENSP00000422595:V221I;ENSP00000428028:V113I	ENSP00000276297:V624I	V	-	1	0	DLC1	13002347	0.976000	0.34144	0.942000	0.38095	0.860000	0.49131	0.617000	0.24359	0.369000	0.24510	-0.794000	0.03295	GTT		0.632	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		11	87	0	0	0	1	0	11	87				
PTPRF	5792	broad.mit.edu	37	1	44044558	44044558	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr1:44044558C>T	ENST00000359947.4	+	7	986	c.646C>T	c.(646-648)Cgt>Tgt	p.R216C	PTPRF_ENST00000372413.3_Missense_Mutation_p.R216C|PTPRF_ENST00000372414.3_Missense_Mutation_p.R216C|PTPRF_ENST00000438120.1_Missense_Mutation_p.R216C	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	216	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GGCAGGCACACGTTACTCAGC	0.607																																						ENST00000359947.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(646-648)Cgt>Tgt		protein tyrosine phosphatase, receptor type, F							185.0	123.0	144.0					1																	44044558		2203	4300	6503	SO:0001583	missense	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44044558C>T	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.646C>T	1.37:g.44044558C>T	ENSP00000353030:p.Arg216Cys					PTPRF_ENST00000372414.3_Missense_Mutation_p.R216C|PTPRF_ENST00000372413.3_Missense_Mutation_p.R216C|PTPRF_ENST00000438120.1_Missense_Mutation_p.R216C	p.R216C	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN			7	986	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	216			Ig-like C2-type 2.		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	c.646C>T	CCDS489.2	.	.	.	.	.	.	.	.	.	.	C	33	5.263765	0.95399	.	.	ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000437607	T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28	4.75	4.75	0.60458	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.33382	N	0.004967	T	0.76550	0.4003	L	0.41632	1.29	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.992	T	0.78018	-0.2368	10	0.56958	D	0.05	.	18.6448	0.91407	0.0:1.0:0.0:0.0	.	216;216;216;222	Q5T020;P10586-2;P10586;Q5T019	.;.;PTPRF_HUMAN;.	C	216	ENSP00000353030:R216C;ENSP00000398822:R216C;ENSP00000361491:R216C;ENSP00000361490:R216C;ENSP00000413306:R216C	ENSP00000353030:R216C	R	+	1	0	PTPRF	43817145	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.729000	0.84864	2.583000	0.87209	0.591000	0.81541	CGT		0.607	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			4	33	0	0	0	1	0	4	33				
ARID1B	57492	broad.mit.edu	37	6	157522598	157522598	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr6:157522598C>T	ENST00000350026.5	+	17	4832	c.4831C>T	c.(4831-4833)Cga>Tga	p.R1611*	ARID1B_ENST00000275248.4_Nonsense_Mutation_p.R1606*|ARID1B_ENST00000367148.1_Nonsense_Mutation_p.R1664*|ARID1B_ENST00000346085.5_Nonsense_Mutation_p.R1624*	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1611					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GAAACAAAGGCGAAAGATTAC	0.443																																						ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(4870-4872)Cga>Tga		AT rich interactive domain 1B (SWI1-like)							95.0	100.0	98.0					6																	157522598		2200	4295	6495	SO:0001587	stop_gained	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157522598C>T	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.4831C>T	6.37:g.157522598C>T	ENSP00000055163:p.Arg1611*					ARID1B_ENST00000350026.5_Nonsense_Mutation_p.R1611*|ARID1B_ENST00000275248.4_Nonsense_Mutation_p.R1606*|ARID1B_ENST00000367148.1_Nonsense_Mutation_p.R1664*	p.R1624*	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	18	4871	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1611					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Nonsense_Mutation	SNP	ENST00000350026.5	37	c.4870C>T	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	C	44	10.788294	0.99468	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	.	.	.	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.316	0.60407	0.158:0.842:0.0:0.0	.	.	.	.	X	1624;1611;1664;1606;1133	.	ENSP00000275248:R1606X	R	+	1	2	ARID1B	157564290	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	1.199000	0.32235	2.402000	0.81655	0.655000	0.94253	CGA		0.443	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		18	111	0	0	0	1	0	18	111				
SYBU	55638	broad.mit.edu	37	8	110655121	110655121	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr8:110655121C>T	ENST00000422135.1	-	3	580	c.65G>A	c.(64-66)cGa>cAa	p.R22Q	SYBU_ENST00000532779.1_Intron|SYBU_ENST00000424158.2_Missense_Mutation_p.R27Q|SYBU_ENST00000440310.1_Missense_Mutation_p.R22Q|SYBU_ENST00000528331.1_Intron|SYBU_ENST00000408889.3_Intron|SYBU_ENST00000419099.1_Missense_Mutation_p.R21Q|SYBU_ENST00000533895.1_Missense_Mutation_p.R21Q|SYBU_ENST00000446070.2_Missense_Mutation_p.R21Q|RP11-422N16.3_ENST00000499579.1_5'Flank|SYBU_ENST00000408908.2_Missense_Mutation_p.R22Q|SYBU_ENST00000528647.1_Missense_Mutation_p.R21Q|SYBU_ENST00000399066.3_Missense_Mutation_p.R19Q|SYBU_ENST00000533171.1_Missense_Mutation_p.R22Q|SYBU_ENST00000276646.9_Missense_Mutation_p.R22Q|SYBU_ENST00000433638.1_Missense_Mutation_p.R22Q|SYBU_ENST00000533065.1_Intron	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	22	Sufficient for interaction with KIF5B.				regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						AATTCGGCTTCGAGAAATCTC	0.478																																						ENST00000399066.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						c.(55-57)cGa>cAa		syntabulin (syntaxin-interacting)							103.0	106.0	105.0					8																	110655121		1906	4139	6045	SO:0001583	missense	55638					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane		g.chr8:110655121C>T	AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"""syntaphilin-like"""	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.65G>A	8.37:g.110655121C>T	ENSP00000407118:p.Arg22Gln					SYBU_ENST00000440310.1_Missense_Mutation_p.R22Q|SYBU_ENST00000528331.1_Intron|SYBU_ENST00000408889.3_Intron|SYBU_ENST00000422135.1_Missense_Mutation_p.R22Q|SYBU_ENST00000424158.2_Missense_Mutation_p.R27Q|SYBU_ENST00000528647.1_Missense_Mutation_p.R21Q|SYBU_ENST00000533065.1_Intron|SYBU_ENST00000276646.9_Missense_Mutation_p.R22Q|SYBU_ENST00000446070.2_Missense_Mutation_p.R21Q|SYBU_ENST00000533895.1_Missense_Mutation_p.R21Q|SYBU_ENST00000533171.1_Missense_Mutation_p.R22Q|SYBU_ENST00000532779.1_Intron|SYBU_ENST00000433638.1_Missense_Mutation_p.R22Q|SYBU_ENST00000419099.1_Missense_Mutation_p.R21Q|SYBU_ENST00000408908.2_Missense_Mutation_p.R22Q	p.R19Q	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN			1	783	-			22			Sufficient for interaction with KIF5B.		A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Missense_Mutation	SNP	ENST00000422135.1	37	c.56G>A	CCDS47912.1	.	.	.	.	.	.	.	.	.	.	C	36	5.695161	0.96793	.	.	ENSG00000147642	ENST00000533895;ENST00000424158;ENST00000399066;ENST00000446070;ENST00000276646;ENST00000528647;ENST00000422135;ENST00000419099;ENST00000433638;ENST00000408908;ENST00000440310;ENST00000533171;ENST00000529190;ENST00000533821;ENST00000534501;ENST00000524720;ENST00000534184;ENST00000528716;ENST00000526302;ENST00000534578;ENST00000527600	.	.	.	5.91	5.91	0.95273	.	0.111091	0.64402	D	0.000008	T	0.78685	0.4322	M	0.67953	2.075	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.997	T	0.79500	-0.1778	9	0.87932	D	0	-11.6325	17.7884	0.88545	0.0:1.0:0.0:0.0	.	21;22;19	Q9NX95-3;Q9NX95;Q9NX95-4	.;SYBU_HUMAN;.	Q	21;27;19;21;22;21;22;21;22;22;22;22;21;21;22;22;21;22;22;22;22	.	ENSP00000276646:R22Q	R	-	2	0	SYBU	110724297	1.000000	0.71417	0.996000	0.52242	0.957000	0.61999	6.548000	0.73896	2.804000	0.96469	0.462000	0.41574	CGA		0.478	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385501.1	NM_017786		7	152	0	0	0	1	0	7	152				
MAP1A	4130	broad.mit.edu	37	15	43813897	43813897	+	Missense_Mutation	SNP	G	G	T			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr15:43813897G>T	ENST00000300231.5	+	4	676	c.226G>T	c.(226-228)Gta>Tta	p.V76L	MAP1A_ENST00000399453.1_Missense_Mutation_p.V76L|MAP1A_ENST00000382031.1_Missense_Mutation_p.V314L			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	76					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TTGGAAGCTGGTACGGCACTT	0.552																																						ENST00000382031.1																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66						c.(940-942)Gta>Tta		microtubule-associated protein 1A	Estramustine(DB01196)						155.0	150.0	151.0					15																	43813897		2185	4285	6470	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43813897G>T	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.226G>T	15.37:g.43813897G>T	ENSP00000300231:p.Val76Leu					MAP1A_ENST00000300231.5_Missense_Mutation_p.V76L|MAP1A_ENST00000399453.1_Missense_Mutation_p.V76L	p.V314L			P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	5	971	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	76			Lys-rich (basic).		O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.940G>T	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.850742	0.51270	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231;ENST00000442025	T;T;T	0.23348	1.91;1.91;1.91	4.9	4.9	0.64082	.	.	.	.	.	T	0.54208	0.1844	M	0.79693	2.465	0.80722	D	1	D	0.61697	0.99	D	0.68943	0.961	T	0.60209	-0.7308	9	0.72032	D	0.01	-10.4596	18.2645	0.90048	0.0:0.0:1.0:0.0	.	76	P78559	MAP1A_HUMAN	L	314;76;76;76	ENSP00000371462:V314L;ENSP00000382380:V76L;ENSP00000300231:V76L	ENSP00000300231:V76L	V	+	1	0	MAP1A	41601189	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.657000	0.98554	2.553000	0.86117	0.561000	0.74099	GTA		0.552	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		5	54	1	0	0.014758	1	0.0149276	5	54				
DUSP16	80824	broad.mit.edu	37	12	12630396	12630396	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr12:12630396C>T	ENST00000228862.2	-	7	2000	c.1369G>A	c.(1369-1371)Gaa>Aaa	p.E457K	DUSP16_ENST00000298573.4_3'UTR|DUSP16_ENST00000545864.1_5'Flank	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	457					dephosphorylation (GO:0016311)|inactivation of MAPK activity (GO:0000188)|MAPK export from nucleus (GO:0045204)|MAPK phosphatase export from nucleus, leptomycin B sensitive (GO:0045209)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.E457K(1)		endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		GGACTGGTTTCGGGAGTCTGC	0.527																																					Ovarian(158;443 1896 15437 36069 46477)	ENST00000228862.2																			1	Substitution - Missense(1)	p.E457K(1)	large_intestine(1)	endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26						c.(1369-1371)Gaa>Aaa		dual specificity phosphatase 16							108.0	107.0	107.0					12																	12630396		2203	4300	6503	SO:0001583	missense	80824				inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr12:12630396C>T	AB052156	CCDS8650.1	12p13	2011-06-09				ENSG00000111266		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	17909	protein-coding gene	gene with protein product	"""MAPK phosphatase-7"""	607175				11359773, 11489891, 15888437	Standard	NM_030640		Approved	MKP-7, KIAA1700, MKP7	uc001rao.2	Q9BY84		ENST00000228862.2:c.1369G>A	12.37:g.12630396C>T	ENSP00000228862:p.Glu457Lys					DUSP16_ENST00000298573.4_3'UTR	p.E457K	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0203)	7	2000	-		Prostate(47;0.0687)	457					Q547C7|Q96QS2|Q9C0G3	Missense_Mutation	SNP	ENST00000228862.2	37	c.1369G>A	CCDS8650.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.044309	0.55110	.	.	ENSG00000111266	ENST00000228862	T	0.01947	4.54	5.8	5.8	0.92144	.	0.504675	0.19206	N	0.120057	T	0.04137	0.0115	L	0.59436	1.845	0.80722	D	1	P;P	0.50528	0.87;0.936	B;B	0.37144	0.184;0.242	T	0.52079	-0.8623	10	0.44086	T	0.13	.	20.063	0.97692	0.0:1.0:0.0:0.0	.	457;457	Q9BY84;Q96N49	DUS16_HUMAN;.	K	457	ENSP00000228862:E457K	ENSP00000228862:E457K	E	-	1	0	DUSP16	12521663	1.000000	0.71417	0.425000	0.26659	0.215000	0.24574	5.482000	0.66833	2.735000	0.93741	0.655000	0.94253	GAA		0.527	DUSP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400311.1	NM_030640		7	122	0	0	0	1	0	7	122				
DCTPP1	79077	broad.mit.edu	37	16	30435664	30435664	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr16:30435664G>A	ENST00000319285.4	-	3	497	c.403C>T	c.(403-405)Cgc>Tgc	p.R135C	DCTPP1_ENST00000568434.1_Missense_Mutation_p.R14C|DCTPP1_ENST00000568973.1_Missense_Mutation_p.R14C|DCTPP1_ENST00000567983.1_Missense_Mutation_p.R36C|DCTPP1_ENST00000565758.1_Missense_Mutation_p.R14C|ZNF771_ENST00000566625.1_Intron	NM_024096.1	NP_077001.1	Q9H773	DCTP1_HUMAN	dCTP pyrophosphatase 1	135					nucleoside triphosphate catabolic process (GO:0009143)|protein homotetramerization (GO:0051289)	cytosol (GO:0005829)	dCTP diphosphatase activity (GO:0047840)|magnesium ion binding (GO:0000287)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|pyrimidine deoxyribonucleotide binding (GO:0032556)			kidney(1)|large_intestine(3)|upper_aerodigestive_tract(1)	5						GAAGAGCTGCGGGCCAGATGG	0.612																																						ENST00000319285.4																			0				kidney(1)|large_intestine(3)|upper_aerodigestive_tract(1)	5						c.(403-405)Cgc>Tgc		dCTP pyrophosphatase 1							58.0	56.0	57.0					16																	30435664		2197	4300	6497	SO:0001583	missense	79077				nucleoside triphosphate catabolic process	cytosol	dCTP diphosphatase activity|identical protein binding|magnesium ion binding	g.chr16:30435664G>A	BC001344	CCDS10680.1	16p11.2	2009-02-11			ENSG00000179958	ENSG00000179958	3.6.1.12		28777	protein-coding gene	gene with protein product	"""XTP3-transactivated protein A"""	615840				15740738	Standard	NM_024096		Approved	MGC5627, RS21C6, CDA03, XTP3TPA	uc002dyf.3	Q9H773	OTTHUMG00000132416	ENST00000319285.4:c.403C>T	16.37:g.30435664G>A	ENSP00000322524:p.Arg135Cys					DCTPP1_ENST00000568973.1_Missense_Mutation_p.R14C|DCTPP1_ENST00000568434.1_Missense_Mutation_p.R14C|DCTPP1_ENST00000567983.1_Missense_Mutation_p.R36C|ZNF771_ENST00000566625.1_Intron|DCTPP1_ENST00000565758.1_Missense_Mutation_p.R14C	p.R135C	NM_024096.1	NP_077001.1	Q9H773	DCTP1_HUMAN			3	497	-			135						Missense_Mutation	SNP	ENST00000319285.4	37	c.403C>T	CCDS10680.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.520879	0.27211	.	.	ENSG00000179958	ENST00000319285	.	.	.	5.49	4.54	0.55810	.	0.158654	0.56097	N	0.000022	T	0.40297	0.1111	N	0.16368	0.405	0.45087	D	0.998105	B	0.17038	0.02	B	0.16289	0.015	T	0.26643	-1.0097	9	0.51188	T	0.08	-9.6241	10.2547	0.43390	0.1615:0.0:0.8385:0.0	.	135	Q9H773	DCTP1_HUMAN	C	135	.	ENSP00000322524:R135C	R	-	1	0	DCTPP1	30343165	1.000000	0.71417	0.889000	0.34880	0.075000	0.17131	3.358000	0.52284	1.324000	0.45282	0.591000	0.81541	CGC		0.612	DCTPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255553.2	NM_024096		8	56	0	0	0	1	0	8	56				
MAGI3	260425	broad.mit.edu	37	1	114128119	114128119	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr1:114128119C>T	ENST00000307546.9	+	4	739	c.664C>T	c.(664-666)Cga>Tga	p.R222*	MAGI3_ENST00000369615.1_Nonsense_Mutation_p.R222*|MAGI3_ENST00000369611.4_Nonsense_Mutation_p.R222*|MAGI3_ENST00000369617.4_Nonsense_Mutation_p.R222*	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	222	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCAAAGAAAACGAACGACATC	0.458																																						ENST00000369615.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(664-666)Cga>Tga		membrane associated guanylate kinase, WW and PDZ domain containing 3							89.0	86.0	87.0					1																	114128119		2203	4300	6503	SO:0001587	stop_gained	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114128119C>T	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.664C>T	1.37:g.114128119C>T	ENSP00000304604:p.Arg222*					MAGI3_ENST00000369611.4_Nonsense_Mutation_p.R222*|MAGI3_ENST00000369617.4_Nonsense_Mutation_p.R222*|MAGI3_ENST00000307546.9_Nonsense_Mutation_p.R222*	p.R222*	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	726	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	222			Guanylate kinase-like.		Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Nonsense_Mutation	SNP	ENST00000307546.9	37	c.664C>T	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	C	38	6.811608	0.97857	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	.	.	.	5.77	0.909	0.19332	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.4486	15.2703	0.73696	0.7293:0.2707:0.0:0.0	.	.	.	.	X	222	.	ENSP00000304604:R222X	R	+	1	2	MAGI3	113929642	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	2.933000	0.48948	0.391000	0.25143	0.585000	0.79938	CGA		0.458	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		6	56	0	0	0	1	0	6	56				
PLEKHG3	26030	broad.mit.edu	37	14	65209951	65209951	+	Missense_Mutation	SNP	C	C	T	rs200998943		TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr14:65209951C>T	ENST00000394691.1	+	17	3337	c.3190C>T	c.(3190-3192)Cgc>Tgc	p.R1064C	PLEKHG3_ENST00000484731.2_Missense_Mutation_p.R569C|PLEKHG3_ENST00000247226.7_Missense_Mutation_p.R1008C|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.R597C|PLEKHG3_ENST00000492928.1_Intron			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	1064							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CGATGAGGCACGCCGAGCAgg	0.731													C|||	1	0.000199681	0.0	0.0014	5008	,	,		14319	0.0		0.0	False		,,,				2504	0.0					ENST00000247226.7																			0				endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29						c.(3022-3024)Cgc>Tgc		pleckstrin homology domain containing, family G (with RhoGef domain) member 3							21.0	26.0	24.0					14																	65209951		2191	4279	6470	SO:0001583	missense	26030				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr14:65209951C>T	AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20364	protein-coding gene	gene with protein product			"""KIAA0599"""	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.3190C>T	14.37:g.65209951C>T	ENSP00000378183:p.Arg1064Cys					PLEKHG3_ENST00000394691.1_Missense_Mutation_p.R1064C|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.R597C|PLEKHG3_ENST00000484731.2_Missense_Mutation_p.R569C|PLEKHG3_ENST00000492928.1_Intron	p.R1008C	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN		all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)	15	3330	+			1064					A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Missense_Mutation	SNP	ENST00000394691.1	37	c.3022C>T		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	6.767	0.510491	0.12883	.	.	ENSG00000126822	ENST00000247226;ENST00000394691;ENST00000471182;ENST00000484731	T;T;T;T	0.60548	0.62;0.18;1.5;1.5	5.39	-0.816	0.10839	.	2.317790	0.01936	N	0.041559	T	0.38268	0.1034	N	0.08118	0	0.09310	N	1	D;D;P;P	0.61697	0.99;0.99;0.733;0.826	P;B;B;B	0.44597	0.454;0.276;0.143;0.276	T	0.30238	-0.9985	10	0.38643	T	0.18	.	4.8691	0.13624	0.1166:0.3407:0.442:0.1007	.	597;569;1064;1008	A1L390-2;G3V311;A1L390;A1L390-3	.;.;PKHG3_HUMAN;.	C	1008;1064;597;569	ENSP00000247226:R1008C;ENSP00000378183:R1064C;ENSP00000450945:R597C;ENSP00000450973:R569C	ENSP00000247226:R1008C	R	+	1	0	PLEKHG3	64279704	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.482000	0.06544	-0.042000	0.13535	-0.176000	0.13171	CGC		0.731	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	NM_015549		14	66	0	0	0	1	0	14	66				
FAM86HP	729375	broad.mit.edu	37	3	129821769	129821769	+	RNA	SNP	C	C	T			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr3:129821769C>T	ENST00000500074.2	-	0	389									family with sequence similarity 86, member H, pseudogene																		ACGGTGAAAGCTTCAGGTTAC	0.572																																						ENST00000500074.2																			0																																																			729375							g.chr3:129821769C>T			3q22.1	2011-07-01			ENSG00000253540	ENSG00000253540			42359	pseudogene	pseudogene							Standard	NR_024252		Approved		uc011ble.1		OTTHUMG00000159796		3.37:g.129821769C>T														0	389	-									RNA	SNP	ENST00000500074.2	37																																																																																						0.572	FAM86HP-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000358348.1			3	41	0	0	0	1	0	3	41				
OR56A3	390083	broad.mit.edu	37	11	5968672	5968672	+	Silent	SNP	C	C	T			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr11:5968672C>T	ENST00000329564.6	+	1	103	c.96C>T	c.(94-96)tcC>tcT	p.S32S	AC025016.1_ENST00000528915.1_lincRNA	NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	32						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTGGCTGTCCCTGCCCCTCA	0.557																																						ENST00000329564.6																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(94-96)tcC>tcT		olfactory receptor, family 56, subfamily A, member 3							94.0	99.0	97.0					11																	5968672		2201	4296	6497	SO:0001819	synonymous_variant	390083				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5968672C>T		CCDS41614.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184478	ENSG00000184478		"""GPCR / Class A : Olfactory receptors"""	14786	protein-coding gene	gene with protein product				OR56A6, OR56A3P			Standard	NM_001003443		Approved		uc010qzt.2	Q8NH54	OTTHUMG00000165373	ENST00000329564.6:c.96C>T	11.37:g.5968672C>T							p.S32S	NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	103	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	32					A6NN77|Q6IFF7	Silent	SNP	ENST00000329564.6	37	c.96C>T	CCDS41614.1																																																																																				0.557	OR56A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383753.1	NM_001003443		17	44	0	0	0	1	0	17	44				
HERC2	8924	broad.mit.edu	37	15	28408274	28408274	+	Missense_Mutation	SNP	G	G	A	rs151205330	byFrequency	TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr15:28408274G>A	ENST00000261609.7	-	69	10820	c.10712C>T	c.(10711-10713)gCg>gTg	p.A3571V		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GGAAAGCACCGCGGAGAGCAC	0.647																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(10711-10713)gCg>gTg		HECT and RLD domain containing E3 ubiquitin protein ligase 2		G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	85.0	81.0	82.0		10712	5.2	0.3	15	dbSNP_134	82	1,8599	1.2+/-3.3	0,1,4299	yes	missense	HERC2	NM_004667.4	64	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	possibly-damaging	3571/4835	28408274	2,13004	2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28408274G>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.10712C>T	15.37:g.28408274G>A	ENSP00000261609:p.Ala3571Val						p.A3571V	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	69	10820	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	3571						Missense_Mutation	SNP	ENST00000261609.7	37	c.10712C>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	14.30	2.494962	0.44352	2.27E-4	1.16E-4	ENSG00000128731	ENST00000261609	T	0.38887	1.11	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.20333	0.0489	N	0.08118	0	0.80722	D	1	P	0.44044	0.825	B	0.23716	0.048	T	0.09357	-1.0678	10	0.30854	T	0.27	.	19.0185	0.92903	0.0:0.0:1.0:0.0	.	3571	O95714	HERC2_HUMAN	V	3571	ENSP00000261609:A3571V	ENSP00000261609:A3571V	A	-	2	0	HERC2	26081869	1.000000	0.71417	0.268000	0.24571	0.154000	0.21943	9.813000	0.99286	2.550000	0.86006	0.655000	0.94253	GCG		0.647	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		7	73	0	0	0	1	0	7	73				
ANKRD11	29123	broad.mit.edu	37	16	89348249	89348249	+	Silent	SNP	C	C	T			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr16:89348249C>T	ENST00000301030.4	-	9	5161	c.4701G>A	c.(4699-4701)agG>agA	p.R1567R	ANKRD11_ENST00000378330.2_Silent_p.R1567R	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1567	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TCTCCCTGGGCCTGGCGTCTT	0.587																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(4699-4701)agG>agA		ankyrin repeat domain 11							71.0	62.0	65.0					16																	89348249		2198	4300	6498	SO:0001819	synonymous_variant	29123					nucleus		g.chr16:89348249C>T	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.4701G>A	16.37:g.89348249C>T						ANKRD11_ENST00000378330.2_Silent_p.R1567R	p.R1567R	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	5161	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	1567			Lys-rich.		Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	c.4701G>A	CCDS32513.1																																																																																				0.587	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		13	90	0	0	0	1	0	13	90				
SLITRK3	22865	broad.mit.edu	37	3	164907641	164907641	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr3:164907641G>T	ENST00000475390.1	-	2	1421	c.978C>A	c.(976-978)taC>taA	p.Y326*	SLITRK3_ENST00000241274.3_Nonsense_Mutation_p.Y326*			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	326					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TTGAGGACTTGTATTCGACAG	0.478										HNSCC(40;0.11)																												ENST00000475390.1																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						c.(976-978)taC>taA		SLIT and NTRK-like family, member 3							238.0	246.0	243.0					3																	164907641		2203	4300	6503	SO:0001587	stop_gained	22865					integral to membrane		g.chr3:164907641G>T	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.978C>A	3.37:g.164907641G>T	ENSP00000420091:p.Tyr326*	HNSCC(40;0.11)				SLITRK3_ENST00000241274.3_Nonsense_Mutation_p.Y326*	p.Y326*			O94933	SLIK3_HUMAN			2	1421	-			326					Q1RMY6	Nonsense_Mutation	SNP	ENST00000475390.1	37	c.978C>A	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	G	38	6.715340	0.97784	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	.	.	.	5.75	0.725	0.18242	.	0.000000	0.31381	N	0.007756	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.5066	9.5847	0.39510	0.3614:0.0:0.6386:0.0	.	.	.	.	X	326	.	ENSP00000241274:Y326X	Y	-	3	2	SLITRK3	166390335	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	1.928000	0.40104	-0.146000	0.11274	0.655000	0.94253	TAC		0.478	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		27	231	1	0	3.6726e-16	1	3.94133e-16	27	231				
KRT33B	3884	broad.mit.edu	37	17	39521441	39521441	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr17:39521441C>T	ENST00000251646.3	-	5	911	c.862G>A	c.(862-864)Gcc>Acc	p.A288T		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	288	Coil 2.|Rod.				aging (GO:0007568)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				TTGTGCTGGGCCTGCAGCTCG	0.582																																						ENST00000251646.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(862-864)Gcc>Acc		keratin 33B							87.0	80.0	82.0					17																	39521441		2191	4297	6488	SO:0001583	missense	3884					intermediate filament	protein binding|structural molecule activity	g.chr17:39521441C>T	X82634	CCDS11389.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131738	ENSG00000131738		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6451	protein-coding gene	gene with protein product	"""hard keratin type I 3II"""	602762	"""keratin, hair, acidic, 3B"""	KRTHA3B		7565656, 16831889	Standard	NM_002279		Approved	Ha-3II	uc002hwl.4	Q14525	OTTHUMG00000133429	ENST00000251646.3:c.862G>A	17.37:g.39521441C>T	ENSP00000251646:p.Ala288Thr						p.A288T	NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN			5	911	-		Breast(137;0.000496)	288			Coil 2.|Rod.		O76010	Missense_Mutation	SNP	ENST00000251646.3	37	c.862G>A	CCDS11389.1	.	.	.	.	.	.	.	.	.	.	c	14.52	2.559184	0.45590	.	.	ENSG00000131738	ENST00000251646	D	0.89485	-2.52	4.93	3.95	0.45737	Filament (1);	0.000000	0.64402	D	0.000007	D	0.88672	0.6500	L	0.54323	1.7	0.30101	N	0.807454	P	0.40794	0.729	P	0.48304	0.573	D	0.86207	0.1622	10	0.54805	T	0.06	.	10.2728	0.43493	0.1609:0.7012:0.1379:0.0	.	288	Q14525	KT33B_HUMAN	T	288	ENSP00000251646:A288T	ENSP00000251646:A288T	A	-	1	0	KRT33B	36774967	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	0.926000	0.28804	1.409000	0.46915	-0.182000	0.12963	GCC		0.582	KRT33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257292.1	NM_002279		7	81	0	0	0	1	0	7	81				
ELFN2	114794	broad.mit.edu	37	22	37770945	37770945	+	Silent	SNP	G	G	A	rs558029911	byFrequency	TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr22:37770945G>A	ENST00000402918.2	-	3	1415	c.630C>T	c.(628-630)taC>taT	p.Y210Y	RP1-63G5.5_ENST00000430883.1_RNA|RP1-63G5.8_ENST00000609322.1_RNA|ELFN2_ENST00000435824.1_5'Flank	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	210	LRRCT.				negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					GCAGGCGGTCGTAGTTCTTGG	0.632													G|||	2	0.000399361	0.0	0.0	5008	,	,		16792	0.001		0.0	False		,,,				2504	0.001					ENST00000402918.1																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35						c.(628-630)taC>taT		extracellular leucine-rich repeat and fibronectin type III domain containing 2							25.0	32.0	30.0					22																	37770945		2203	4298	6501	SO:0001819	synonymous_variant	114794					cell surface|integral to membrane		g.chr22:37770945G>A	BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	29396	protein-coding gene	gene with protein product			"""leucine rich repeat containing 62"", ""extracellular leucine-rich repeat and fibronectin type III containing 2"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 2"", ""protein phosphatase 1, regulatory subunit 29"""	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.630C>T	22.37:g.37770945G>A						RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000349653.3_Silent_p.Y210Y	p.Y210Y	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN			3	1415	-	Melanoma(58;0.0574)		210			LRRCT.		Q96PY3	Silent	SNP	ENST00000402918.2	37	c.630C>T	CCDS33642.1																																																																																				0.632	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	NM_052906		7	36	0	0	0	1	0	7	36				
CAMTA1	23261	broad.mit.edu	37	1	7724087	7724087	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr1:7724087C>T	ENST00000303635.7	+	9	1687	c.1480C>T	c.(1480-1482)Cag>Tag	p.Q494*	CAMTA1_ENST00000439411.2_Nonsense_Mutation_p.Q494*	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	494					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TAACCCAAAGCAGGGCCAGAC	0.597			T	WWTR1	epitheliod hemangioendothelioma																																	ENST00000303635.7				Dom	yes		1	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1			M	WWTR1		epitheliod hemangioendothelioma		0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85						c.(1480-1482)Cag>Tag		calmodulin binding transcription activator 1							69.0	80.0	76.0					1																	7724087		2203	4300	6503	SO:0001587	stop_gained	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7724087C>T	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.1480C>T	1.37:g.7724087C>T	ENSP00000306522:p.Gln494*					CAMTA1_ENST00000439411.2_Nonsense_Mutation_p.Q494*	p.Q494*	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	9	1687	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	494					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Nonsense_Mutation	SNP	ENST00000303635.7	37	c.1480C>T	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	c	39	7.336366	0.98221	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	.	.	.	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-17.1447	18.228	0.89924	0.0:1.0:0.0:0.0	.	.	.	.	X	494	.	ENSP00000306522:Q494X	Q	+	1	0	CAMTA1	7646674	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.755000	0.85180	2.313000	0.78055	0.493000	0.49557	CAG		0.597	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		20	79	0	0	0	1	0	20	79				
RUNX1T1	862	broad.mit.edu	37	8	92983053	92983053	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr8:92983053G>A	ENST00000523629.1	-	11	1826	c.1372C>T	c.(1372-1374)Cgc>Tgc	p.R458C	RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R431C|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R421C|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R469C|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R431C|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R421C|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R458C|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R421C	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	458					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R469C(1)|p.R421C(1)|p.R458C(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			ATCGCCTGGCGCTTCACCTCA	0.567																																						ENST00000523629.1																			3	Substitution - Missense(3)	p.R469C(1)|p.R421C(1)|p.R458C(1)	lung(3)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86						c.(1372-1374)Cgc>Tgc		runt-related transcription factor 1; translocated to, 1 (cyclin D-related)							61.0	49.0	53.0					8																	92983053		2203	4300	6503	SO:0001583	missense	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:92983053G>A	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1372C>T	8.37:g.92983053G>A	ENSP00000428543:p.Arg458Cys					RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R469C|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R431C|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R421C|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R431C|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R421C|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R458C|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R421C	p.R458C	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		11	1826	-			458					B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	c.1372C>T	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.009116	0.93346	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	T;T;T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.74450	0.3718	M	0.84433	2.695	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.983;1.0;0.959;0.998	T	0.76926	-0.2778	10	0.72032	D	0.01	-14.8894	20.2181	0.98305	0.0:0.0:1.0:0.0	.	469;421;458;431	E7EPN4;Q7Z4J5;Q06455;Q06455-2	.;.;MTG8_HUMAN;.	C	458;431;458;421;421;421;469;431	ENSP00000428543:R458C;ENSP00000379520:R431C;ENSP00000265814:R458C;ENSP00000353504:R421C;ENSP00000390137:R421C;ENSP00000428742:R421C;ENSP00000402257:R469C;ENSP00000430728:R431C	ENSP00000265814:R458C	R	-	1	0	RUNX1T1	93052229	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.695000	0.84257	2.785000	0.95823	0.655000	0.94253	CGC		0.567	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		26	25	0	0	0	1	0	26	25				
SFRP4	6424	broad.mit.edu	37	7	37956085	37956085	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr7:37956085C>T	ENST00000436072.2	-	1	432	c.55G>A	c.(55-57)Gtg>Atg	p.V19M	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	19	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.			V -> M (in Ref. 5; CAG46532). {ECO:0000305}.	brain development (GO:0007420)|cell differentiation (GO:0030154)|decidualization (GO:0046697)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|menstrual cycle phase (GO:0022601)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of sodium-dependent phosphate transport (GO:2000119)|phosphate ion homeostasis (GO:0055062)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of receptor internalization (GO:0002092)|response to hormone (GO:0009725)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GCGCCGCGCACGCCCAGCGCC	0.687																																						ENST00000436072.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(55-57)Gtg>Atg		secreted frizzled-related protein 4							48.0	43.0	45.0					7																	37956085		2200	4298	6498	SO:0001583	missense	6424				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr7:37956085C>T	AF026692	CCDS5453.1	7p14.1	2008-07-18			ENSG00000106483	ENSG00000106483		"""Secreted frizzled-related proteins"""	10778	protein-coding gene	gene with protein product		606570				10211996	Standard	NM_003014		Approved	frpHE, FRP-4, FRPHE	uc003tfo.4	Q6FHJ7	OTTHUMG00000023026	ENST00000436072.2:c.55G>A	7.37:g.37956085C>T	ENSP00000410715:p.Val19Met					EPDR1_ENST00000476620.1_Intron	p.V19M	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN			1	432	-			19	V -> M (in Ref. 5; CAG46532).		FZ.		B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64	Missense_Mutation	SNP	ENST00000436072.2	37	c.55G>A	CCDS5453.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.418169	0.83449	.	.	ENSG00000106483	ENST00000436072;ENST00000446575	T	0.64618	-0.11	4.62	4.62	0.57501	Frizzled domain (1);	0.282561	0.34291	N	0.004081	T	0.60702	0.2289	N	0.22421	0.69	0.32481	N	0.541465	D	0.76494	0.999	P	0.55667	0.781	T	0.68629	-0.5358	10	0.45353	T	0.12	.	14.4858	0.67616	0.0:1.0:0.0:0.0	.	19	Q6FHJ7	SFRP4_HUMAN	M	19;41	ENSP00000410715:V19M	ENSP00000410715:V19M	V	-	1	0	SFRP4	37922610	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.739000	0.68622	2.376000	0.81061	0.557000	0.71058	GTG		0.687	SFRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220017.2	NM_003014		29	26	0	0	0	1	0	29	26				
SLC6A17	388662	broad.mit.edu	37	1	110738332	110738332	+	Missense_Mutation	SNP	G	G	T			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr1:110738332G>T	ENST00000331565.4	+	10	2102	c.1617G>T	c.(1615-1617)gaG>gaT	p.E539D		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	539					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		TCATCCTTGAGAACATCGCTG	0.542																																						ENST00000331565.4																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(1615-1617)gaG>gaT		solute carrier family 6 (neutral amino acid transporter), member 17							103.0	88.0	93.0					1																	110738332		2203	4300	6503	SO:0001583	missense	388662				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity	g.chr1:110738332G>T		CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"""Solute carriers"""	31399	protein-coding gene	gene with protein product		610299	"""solute carrier family 6 (neurotransmitter transporter), member 17"", ""solute carrier family 6, member 17"""				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.1617G>T	1.37:g.110738332G>T	ENSP00000330199:p.Glu539Asp						p.E539D	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)	10	2102	+		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	539					A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Missense_Mutation	SNP	ENST00000331565.4	37	c.1617G>T	CCDS30799.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.509372	0.85282	.	.	ENSG00000197106	ENST00000331565;ENST00000450985	T	0.77750	-1.12	5.64	5.64	0.86602	.	0.046551	0.85682	D	0.000000	D	0.91862	0.7424	H	0.99058	4.415	0.53005	D	0.999969	D	0.89917	1.0	D	0.81914	0.995	D	0.94142	0.7398	10	0.87932	D	0	.	12.9619	0.58464	0.0743:0.0:0.9257:0.0	.	539	Q9H1V8	S6A17_HUMAN	D	539	ENSP00000330199:E539D	ENSP00000330199:E539D	E	+	3	2	SLC6A17	110539855	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.811000	0.47986	2.653000	0.90120	0.650000	0.86243	GAG		0.542	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032550.2	XM_371280		22	38	1	0	1.22574e-08	1	1.29958e-08	22	38				
MRPL24	79590	broad.mit.edu	37	1	156708490	156708490	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr1:156708490G>A	ENST00000361531.2	-	2	143	c.7C>T	c.(7-9)Ctt>Ttt	p.L3F	MRPL24_ENST00000478899.1_5'Flank|MRPL24_ENST00000368211.4_Missense_Mutation_p.L3F			Q96A35	RM24_HUMAN	mitochondrial ribosomal protein L24	3					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(1)|lung(4)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGGGCAGAAAGACGCATGCCT	0.557																																						ENST00000368211.4																			0				endometrium(1)|large_intestine(1)|lung(4)	6						c.(7-9)Ctt>Ttt		mitochondrial ribosomal protein L24							48.0	45.0	46.0					1																	156708490		2203	4300	6503	SO:0001583	missense	79590				translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr1:156708490G>A	AB051341	CCDS1155.1	1q23.1	2012-11-14			ENSG00000143314	ENSG00000143314		"""Mitochondrial ribosomal proteins / large subunits"""	14037	protein-coding gene	gene with protein product		611836					Standard	NM_145729		Approved	MRP-L18	uc001fpx.1	Q96A35	OTTHUMG00000041296	ENST00000361531.2:c.7C>T	1.37:g.156708490G>A	ENSP00000354525:p.Leu3Phe					MRPL24_ENST00000361531.2_Missense_Mutation_p.L3F	p.L3F	NM_024540.3|NM_145729.2	NP_078816.2|NP_663781.1	Q96A35	RM24_HUMAN			2	145	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		3					D3DVC8|Q53G65|Q53HT0|Q5SYZ9|Q5SZ00|Q5SZ02|Q96Q70|Q9H7G3	Missense_Mutation	SNP	ENST00000361531.2	37	c.7C>T	CCDS1155.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.711849	0.89112	.	.	ENSG00000143314	ENST00000361531;ENST00000368211;ENST00000434558;ENST00000412846;ENST00000420938	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.60869	0.2302	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.65199	-0.6226	9	0.87932	D	0	-21.1098	17.2533	0.87048	0.0:0.0:1.0:0.0	.	3	Q96A35	RM24_HUMAN	F	3	.	ENSP00000354525:L3F	L	-	1	0	MRPL24	154975114	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	8.761000	0.91691	2.755000	0.94549	0.655000	0.94253	CTT		0.557	MRPL24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098955.1	NM_145729		13	29	0	0	0	1	0	13	29				
PLK4	10733	broad.mit.edu	37	4	128807144	128807144	+	Missense_Mutation	SNP	G	G	A	rs370469799		TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr4:128807144G>A	ENST00000270861.5	+	5	893	c.619G>A	c.(619-621)Ggg>Agg	p.G207R	PLK4_ENST00000515069.1_Missense_Mutation_p.G207R|PLK4_ENST00000513090.1_Missense_Mutation_p.G175R|PLK4_ENST00000507249.1_Missense_Mutation_p.G207R|PLK4_ENST00000514379.1_Missense_Mutation_p.G166R	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	207	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				centriole replication (GO:0007099)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of centriole replication (GO:0046601)|protein phosphorylation (GO:0006468)|trophoblast giant cell differentiation (GO:0060707)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.G207W(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						ATTACTTATCGGGAGACCACC	0.408																																					Colon(135;508 1718 19061 31832 42879)	ENST00000270861.5																			1	Substitution - Missense(1)	p.G207W(1)	kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(619-621)Ggg>Agg		polo-like kinase 4		G	ARG/GLY,ARG/GLY,ARG/GLY	0,4406		0,0,2203	152.0	146.0	148.0		523,496,619	5.0	0.9	4		148	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	PLK4	NM_001190799.1,NM_001190801.1,NM_014264.4	125,125,125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	175/939,166/930,207/971	128807144	1,13005	2203	4300	6503	SO:0001583	missense	10733				G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr4:128807144G>A	Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731			11397	protein-coding gene	gene with protein product		605031	"""serine/threonine kinase 18"", ""polo-like kinase 4 (Drosophila)"""	STK18			Standard	NM_014264		Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000270861.5:c.619G>A	4.37:g.128807144G>A	ENSP00000270861:p.Gly207Arg					PLK4_ENST00000507249.1_Missense_Mutation_p.G207R|PLK4_ENST00000513090.1_Missense_Mutation_p.G175R|PLK4_ENST00000514379.1_Missense_Mutation_p.G166R|PLK4_ENST00000515069.1_Missense_Mutation_p.G207R	p.G207R	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN			5	893	+			207			Protein kinase.		B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Missense_Mutation	SNP	ENST00000270861.5	37	c.619G>A	CCDS3735.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.395486	0.83011	0.0	1.16E-4	ENSG00000142731	ENST00000270861;ENST00000515069;ENST00000513090;ENST00000507249;ENST00000514379	T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11	5.88	5.02	0.67125	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.70876	0.3274	M	0.89287	3.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78440	-0.2203	10	0.87932	D	0	-4.6884	16.8337	0.85951	0.0:0.1286:0.8714:0.0	.	175;207	O00444-2;O00444	.;PLK4_HUMAN	R	207;207;175;207;166	ENSP00000270861:G207R;ENSP00000421774:G207R;ENSP00000427554:G175R;ENSP00000423412:G207R;ENSP00000423582:G166R	ENSP00000270861:G207R	G	+	1	0	PLK4	129026594	1.000000	0.71417	0.896000	0.35187	0.990000	0.78478	9.446000	0.97590	1.422000	0.47177	0.655000	0.94253	GGG		0.408	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257095.3			9	105	0	0	0	1	0	9	105				
FCGBP	8857	broad.mit.edu	37	19	40411941	40411941	+	Silent	SNP	G	G	A			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr19:40411941G>A	ENST00000221347.6	-	7	3694	c.3687C>T	c.(3685-3687)tgC>tgT	p.C1229C		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1229	Cys-rich.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CGTGCGGTCCGCAGCTGGAGG	0.672																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(3685-3687)tgC>tgT		Fc fragment of IgG binding protein							46.0	46.0	46.0					19																	40411941		2203	4300	6503	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40411941G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.3687C>T	19.37:g.40411941G>A							p.C1229C	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		7	3694	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		1229			Cys-rich.		O95784	Silent	SNP	ENST00000221347.6	37	c.3687C>T	CCDS12546.1																																																																																				0.672	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		11	34	0	0	0	1	0	11	34				
CAND1	55832	broad.mit.edu	37	12	67698406	67698406	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr12:67698406C>T	ENST00000545606.1	+	9	1752	c.1315C>T	c.(1315-1317)Ctt>Ttt	p.L439F		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	439					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TGTTAAAGCTCTTCACAAACA	0.378																																						ENST00000545606.1																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35						c.(1315-1317)Ctt>Ttt		cullin-associated and neddylation-dissociated 1							106.0	104.0	105.0					12																	67698406		2203	4300	6503	SO:0001583	missense	55832				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding	g.chr12:67698406C>T		CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"""TBP interacting protein"""	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.1315C>T	12.37:g.67698406C>T	ENSP00000442318:p.Leu439Phe						p.L439F	NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)	9	1752	+			439					B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP	ENST00000545606.1	37	c.1315C>T	CCDS8977.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.063472	0.55432	.	.	ENSG00000111530	ENST00000545606;ENST00000299218;ENST00000540047;ENST00000544619	T;T	0.76578	-1.03;-1.03	5.95	5.06	0.68205	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.87513	0.6196	M	0.86651	2.83	0.80722	D	1	B;D	0.64830	0.003;0.994	B;D	0.67725	0.001;0.953	D	0.88336	0.2971	9	.	.	.	-5.4743	9.7352	0.40384	0.0:0.8046:0.0:0.1954	.	439;439	Q86VP6-2;Q86VP6	.;CAND1_HUMAN	F	439;439;281;147	ENSP00000442318:L439F;ENSP00000444089:L147F	.	L	+	1	0	CAND1	65984673	0.995000	0.38212	1.000000	0.80357	0.989000	0.77384	2.009000	0.40903	1.528000	0.49103	0.491000	0.48974	CTT		0.378	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448		12	34	0	0	0	1	0	12	34				
DAB1	1600	broad.mit.edu	37	1	57476820	57476820	+	Missense_Mutation	SNP	C	C	A			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr1:57476820C>A	ENST00000371231.1	-	14	1703	c.1669G>T	c.(1669-1671)Gct>Tct	p.A557S	DAB1_ENST00000371236.2_Missense_Mutation_p.A524S|DAB1_ENST00000414851.2_Missense_Mutation_p.A506S|DAB1_ENST00000371234.4_Missense_Mutation_p.A524S|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000439789.2_Missense_Mutation_p.A438S|DAB1_ENST00000420954.2_Missense_Mutation_p.A522S			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	557					adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TCACTTACAGCTTCTTGCTCT	0.403																																						ENST00000371236.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						c.(1570-1572)Gct>Tct		Dab, reelin signal transducer, homolog 1 (Drosophila)							128.0	132.0	130.0					1																	57476820		2203	4300	6503	SO:0001583	missense	1600				cell differentiation|nervous system development			g.chr1:57476820C>A	BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"""disabled (Drosophila) homolog 1"", ""disabled homolog 1 (Drosophila)"", ""Dab, reelin signal transducer, homolog 1 (Drosophila)"", ""Dab reelin signal transducer 1"""			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.1669G>T	1.37:g.57476820C>A	ENSP00000360275:p.Ala557Ser					DAB1_ENST00000371234.4_Missense_Mutation_p.A524S|DAB1_ENST00000420954.2_Missense_Mutation_p.A522S|DAB1_ENST00000371231.1_Missense_Mutation_p.A557S|DAB1_ENST00000414851.2_Missense_Mutation_p.A506S|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000439789.2_Missense_Mutation_p.A438S	p.A524S			O75553	DAB1_HUMAN			13	1833	-			557					A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Missense_Mutation	SNP	ENST00000371231.1	37	c.1570G>T		.	.	.	.	.	.	.	.	.	.	C	16.27	3.075808	0.55646	.	.	ENSG00000173406	ENST00000371236;ENST00000371233;ENST00000371234;ENST00000420954;ENST00000414851;ENST00000439789;ENST00000371231	T;T;T;T;T;T	0.51071	0.75;0.75;0.74;0.72;1.78;0.77	4.96	4.96	0.65561	.	0.126462	0.52532	D	0.000072	T	0.35422	0.0931	L	0.29908	0.895	0.58432	D	0.999999	B;B;P;P;B	0.36789	0.427;0.403;0.57;0.518;0.427	B;B;B;B;B	0.30401	0.082;0.047;0.101;0.115;0.101	T	0.12553	-1.0543	10	0.23302	T	0.38	-16.7055	18.7462	0.91794	0.0:1.0:0.0:0.0	.	506;557;524;438;522	O75553-4;O75553;O75553-6;O75553-3;O75553-5	.;DAB1_HUMAN;.;.;.	S	524;524;524;522;506;438;557	ENSP00000360280:A524S;ENSP00000360278:A524S;ENSP00000395296:A522S;ENSP00000387581:A506S;ENSP00000409328:A438S;ENSP00000360275:A557S	ENSP00000360275:A557S	A	-	1	0	DAB1	57249408	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.819000	0.48049	2.724000	0.93272	0.555000	0.69702	GCT		0.403	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1	NM_021080		16	81	1	0	2.31682e-05	1	2.39859e-05	16	81				
TRAPPC1	58485	broad.mit.edu	37	17	7834416	7834416	+	Silent	SNP	G	G	A			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr17:7834416G>A	ENST00000303731.4	-	3	337	c.222C>T	c.(220-222)taC>taT	p.Y74Y	RP11-1099M24.7_ENST00000573621.1_5'Flank|KCNAB3_ENST00000303790.2_5'Flank|CNTROB_ENST00000565740.1_5'Flank|TRAPPC1_ENST00000540486.1_Silent_p.Y74Y|CNTROB_ENST00000380262.3_5'Flank|CNTROB_ENST00000380255.3_5'Flank|CNTROB_ENST00000563694.1_5'Flank	NM_021210.4	NP_067033.1	Q9Y5R8	TPPC1_HUMAN	trafficking protein particle complex 1	74					ER to Golgi vesicle-mediated transport (GO:0006888)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|TRAPP complex (GO:0030008)				breast(1)|lung(2)	3		Prostate(122;0.173)				TGGGCGTCTCGTAGTAATGGA	0.527																																						ENST00000303731.4																			0				breast(1)|lung(2)	3						c.(220-222)taC>taT		trafficking protein particle complex 1							90.0	77.0	81.0					17																	7834416		2203	4300	6503	SO:0001819	synonymous_variant	58485				ER to Golgi vesicle-mediated transport	endoplasmic reticulum		g.chr17:7834416G>A	AF129332	CCDS11125.1	17p13.1	2011-10-10			ENSG00000170043	ENSG00000170043		"""Trafficking protein particle complex"""	19894	protein-coding gene	gene with protein product		610969				10582700	Standard	NM_021210		Approved	MUM2, BET5	uc002gjo.2	Q9Y5R8	OTTHUMG00000108171	ENST00000303731.4:c.222C>T	17.37:g.7834416G>A						TRAPPC1_ENST00000540486.1_Silent_p.Y74Y	p.Y74Y	NM_021210.4	NP_067033.1	Q9Y5R8	TPPC1_HUMAN			3	337	-		Prostate(122;0.173)	74					D3DTR0	Silent	SNP	ENST00000303731.4	37	c.222C>T	CCDS11125.1																																																																																				0.527	TRAPPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226975.2	NM_021210		26	15	0	0	0	1	0	26	15				
MSR1	4481	broad.mit.edu	37	8	16026136	16026136	+	Missense_Mutation	SNP	T	T	C			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr8:16026136T>C	ENST00000262101.5	-	4	582	c.461A>G	c.(460-462)gAc>gGc	p.D154G	MSR1_ENST00000381998.4_Missense_Mutation_p.D154G|MSR1_ENST00000536385.1_Intron|MSR1_ENST00000350896.3_Missense_Mutation_p.D154G|MSR1_ENST00000445506.2_Missense_Mutation_p.D172G|MSR1_ENST00000355282.2_Missense_Mutation_p.D154G			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	154					cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CAGAAGAATGTCATTAAATCT	0.388																																						ENST00000350896.3																			0				haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(460-462)gAc>gGc		macrophage scavenger receptor 1							241.0	217.0	225.0					8																	16026136		2203	4300	6503	SO:0001583	missense	4481				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	g.chr8:16026136T>C	D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"""CD molecules"""	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.461A>G	8.37:g.16026136T>C	ENSP00000262101:p.Asp154Gly					MSR1_ENST00000381998.4_Missense_Mutation_p.D154G|MSR1_ENST00000445506.2_Missense_Mutation_p.D172G|MSR1_ENST00000355282.2_Missense_Mutation_p.D154G|MSR1_ENST00000536385.1_Intron|MSR1_ENST00000262101.5_Missense_Mutation_p.D154G	p.D154G	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN		Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)	4	658	-			154					D3DSP3|O60505|P21759|Q45F10	Missense_Mutation	SNP	ENST00000262101.5	37	c.461A>G	CCDS5995.1	.	.	.	.	.	.	.	.	.	.	T	10.58	1.389513	0.25118	.	.	ENSG00000038945	ENST00000350896;ENST00000262101;ENST00000445506;ENST00000355282;ENST00000381998	D;T;T;D;D	0.94330	-3.4;-0.57;-0.57;-3.4;-3.4	5.15	2.79	0.32731	Macrophage scavenger receptor (2);	0.103048	0.42548	D	0.000686	D	0.93667	0.7977	M	0.66939	2.045	0.09310	N	1	B;P;P;B	0.52842	0.058;0.956;0.956;0.032	B;P;P;B	0.56343	0.042;0.796;0.671;0.042	D	0.86677	0.1914	10	0.48119	T	0.1	.	6.8937	0.24245	0.0:0.1739:0.0:0.8261	.	172;154;154;154	B4DDJ5;P21757-2;P21757-3;P21757	.;.;.;MSRE_HUMAN	G	154;154;172;154;154	ENSP00000262100:D154G;ENSP00000262101:D154G;ENSP00000405453:D172G;ENSP00000347430:D154G;ENSP00000371428:D154G	ENSP00000262101:D154G	D	-	2	0	MSR1	16070507	0.067000	0.21026	0.001000	0.08648	0.077000	0.17291	1.100000	0.31025	0.391000	0.25143	0.528000	0.53228	GAC		0.388	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211627.2			25	99	0	0	0	1	0	25	99				
TLN1	7094	broad.mit.edu	37	9	35720905	35720905	+	Missense_Mutation	SNP	A	A	C			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr9:35720905A>C	ENST00000314888.9	-	11	1463	c.1110T>G	c.(1108-1110)ttT>ttG	p.F370L	TLN1_ENST00000540444.1_Missense_Mutation_p.F370L	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	370	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Interaction with LAYN. {ECO:0000250}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGTAATCTCCAAAATCCTAGG	0.488																																						ENST00000314888.9																			0				NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85						c.(1108-1110)ttT>ttG		talin 1							96.0	85.0	88.0					9																	35720905		2203	4300	6503	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35720905A>C	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.1110T>G	9.37:g.35720905A>C	ENSP00000316029:p.Phe370Leu					TLN1_ENST00000540444.1_Missense_Mutation_p.F370L	p.F370L	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		11	1463	-	all_epithelial(49;0.167)		370			FERM.|Interaction with LAYN (By similarity).		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.1110T>G	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	A	27.9	4.870328	0.91587	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.73789	-0.78;-0.78	5.6	-6.75	0.01738	FERM domain (1);Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (1);	0.000000	0.85682	D	0.000000	D	0.83399	0.5246	M	0.83603	2.65	0.80722	D	1	D	0.71674	0.998	D	0.68039	0.955	D	0.85982	0.1483	10	0.87932	D	0	-11.9659	18.119	0.89565	0.9014:0.0:0.0986:0.0	.	370	Q9Y490	TLN1_HUMAN	L	370	ENSP00000316029:F370L;ENSP00000442981:F370L	ENSP00000316029:F370L	F	-	3	2	TLN1	35710905	0.979000	0.34478	0.901000	0.35422	0.956000	0.61745	0.367000	0.20382	-1.147000	0.02851	-0.408000	0.06270	TTT		0.488	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		5	61	0	0	0	1	0	5	61				
BMS1P20	96610	broad.mit.edu	37	22	22662995	22662995	+	RNA	SNP	C	C	T	rs79792109		TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr22:22662995C>T	ENST00000426066.1	+	0	500					NR_027293.1				BMS1 pseudogene 20																		TTTATTGTGTCACATAGAATT	0.348																																						ENST00000426066.1																			0																																																			96610							g.chr22:22662995C>T			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22662995C>T								NR_027293.1						0	500	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.348	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	29	0	0	0	1	0	3	29				
LOXL3	84695	broad.mit.edu	37	2	74779538	74779538	+	Missense_Mutation	SNP	G	G	A	rs374759905		TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr2:74779538G>A	ENST00000264094.3	-	2	295	c.224C>T	c.(223-225)aCg>aTg	p.T75M	DOK1_ENST00000233668.5_5'Flank|LOXL3_ENST00000484369.1_5'UTR|LOXL3_ENST00000409249.1_Missense_Mutation_p.T75M|LOXL3_ENST00000409986.1_Missense_Mutation_p.T75M|DOK1_ENST00000409429.1_Intron|LOXL3_ENST00000393937.2_Missense_Mutation_p.T75M|DOK1_ENST00000340004.6_5'Flank|LOXL3_ENST00000409549.1_Missense_Mutation_p.T75M	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	75	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						AGCCTGCAGCGTGAAGTCATC	0.622																																						ENST00000264094.3																			0				endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						c.(223-225)aCg>aTg		lysyl oxidase-like 3		G	,MET/THR	1,4405	2.1+/-5.4	0,1,2202	43.0	41.0	41.0		,224	4.7	1.0	2		41	0,8600		0,0,4300	no	intron,missense	DOK1,LOXL3	NM_001197260.1,NM_032603.2	,81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,possibly-damaging	,75/754	74779538	1,13005	2203	4300	6503	SO:0001583	missense	84695					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity	g.chr2:74779538G>A	AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.224C>T	2.37:g.74779538G>A	ENSP00000264094:p.Thr75Met					LOXL3_ENST00000409986.1_Missense_Mutation_p.T75M|DOK1_ENST00000409429.1_Intron|LOXL3_ENST00000409549.1_Missense_Mutation_p.T75M|LOXL3_ENST00000393937.2_Missense_Mutation_p.T75M|LOXL3_ENST00000484369.1_5'UTR|LOXL3_ENST00000409249.1_Missense_Mutation_p.T75M	p.T75M	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN			2	295	-			75			SRCR 1.		D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Missense_Mutation	SNP	ENST00000264094.3	37	c.224C>T	CCDS1953.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.305261	0.81247	2.27E-4	0.0	ENSG00000115318	ENST00000264094;ENST00000409249;ENST00000393937;ENST00000409549;ENST00000409986;ENST00000413469	T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47	4.7	4.7	0.59300	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.060127	0.64402	D	0.000002	T	0.58963	0.2159	M	0.86028	2.79	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.70487	0.953;0.969;0.967;0.938	T	0.66504	-0.5907	10	0.87932	D	0	.	15.1668	0.72833	0.0:0.0:1.0:0.0	.	75;75;75;75	B9A025;E7END4;Q6IPL7;P58215	.;.;.;LOXL3_HUMAN	M	75	ENSP00000264094:T75M;ENSP00000387103:T75M;ENSP00000377512:T75M;ENSP00000386696:T75M;ENSP00000386545:T75M;ENSP00000398260:T75M	ENSP00000264094:T75M	T	-	2	0	LOXL3	74633046	1.000000	0.71417	0.994000	0.49952	0.958000	0.62258	6.337000	0.72958	2.443000	0.82685	0.555000	0.69702	ACG		0.622	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252215.1	NM_032603		4	36	0	0	0	1	0	4	36				
WASH3P	374666	broad.mit.edu	37	15	102516473	102516473	+	RNA	SNP	G	G	A			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr15:102516473G>A	ENST00000557932.1	+	0	1421				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)			central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						ATCCTAGGGGGCTCCATGACA	0.642																																						ENST00000557932.1																			0				central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25																																														374666							g.chr15:102516473G>A			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102516473G>A														0	1421	+									RNA	SNP	ENST00000557932.1	37																																																																																						0.642	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		4	32	0	0	0	1	0	4	32				
EXOC3L1	283849	broad.mit.edu	37	16	67223060	67223060	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr16:67223060G>A	ENST00000314586.6	-	3	310	c.70C>T	c.(70-72)Cgg>Tgg	p.R24W	EXOC3L1_ENST00000562887.1_5'UTR	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	24	Mediates interaction with EXOC2, EXOC4 and EXOC5. {ECO:0000250}.				exocytosis (GO:0006887)|peptide hormone secretion (GO:0030072)	exocyst (GO:0000145)|secretory granule (GO:0030141)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						TGCTCTGCCCGCTCCTGCTCT	0.657																																						ENST00000314586.6																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						c.(70-72)Cgg>Tgg		exocyst complex component 3-like 1							10.0	13.0	12.0					16																	67223060		2176	4277	6453	SO:0001583	missense	283849				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle		g.chr16:67223060G>A	AK092858	CCDS10832.1	16q22.1	2011-01-31	2011-01-31	2011-01-31	ENSG00000179044	ENSG00000179044			27540	protein-coding gene	gene with protein product		614117	"""exocyst complex component 3-like"""	EXOC3L		12477932	Standard	NM_178516		Approved	FLJ35539, FLJ35587	uc002erx.1	Q86VI1	OTTHUMG00000137508	ENST00000314586.6:c.70C>T	16.37:g.67223060G>A	ENSP00000325674:p.Arg24Trp					EXOC3L1_ENST00000562887.1_5'UTR	p.R24W	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN			3	310	-			24			Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity).		A8K7I9|Q8NAD2|Q8TEN2	Missense_Mutation	SNP	ENST00000314586.6	37	c.70C>T	CCDS10832.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.931675	0.73442	.	.	ENSG00000179044	ENST00000314586;ENST00000545725;ENST00000314553	T;T	0.24723	2.88;1.84	5.33	4.24	0.50183	.	0.169717	0.50627	D	0.000105	T	0.45736	0.1357	M	0.63428	1.95	0.37785	D	0.927146	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75020	0.985;0.965;0.952	T	0.51513	-0.8696	10	0.87932	D	0	-12.1132	11.3142	0.49381	0.0:0.0:0.1605:0.8395	.	24;24;24	F5H4W1;B7Z6U0;Q86VI1	.;.;EX3L1_HUMAN	W	24;24;29	ENSP00000325674:R24W;ENSP00000439910:R24W	ENSP00000325008:R29W	R	-	1	2	EXOC3L1	65780561	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.298000	0.33412	0.878000	0.35920	-0.457000	0.05445	CGG		0.657	EXOC3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268827.2	NM_178516		4	13	0	0	0	1	0	4	13				
DLX6	1750	broad.mit.edu	37	7	96639323	96639323	+	Silent	SNP	A	A	G	rs373065383		TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr7:96639323A>G	ENST00000518156.2	+	3	1276	c.846A>G	c.(844-846)ccA>ccG	p.P282P	DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000430027.3_RNA|DLX6_ENST00000555308.1_Silent_p.P154P|DLX6-AS1_ENST00000437541.1_RNA|DLX6_ENST00000493273.2_3'UTR|DLX6-AS1_ENST00000452769.2_RNA|DLX6_ENST00000007660.5_Silent_p.P254P|DLX6-AS2_ENST00000606174.1_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	164					anatomical structure formation involved in morphogenesis (GO:0048646)|embryonic limb morphogenesis (GO:0030326)|epithelial cell differentiation (GO:0030855)|head development (GO:0060322)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					ACTCCTCTCCACACCAGGACA	0.567													A|||	1	0.000199681	0.0	0.0	5008	,	,		18783	0.0		0.0	False		,,,				2504	0.001					ENST00000518156.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12						c.(844-846)ccA>ccG		distal-less homeobox 6		A		0,4294		0,0,2147	24.0	25.0	25.0		846	4.6	1.0	7		25	18,8538		0,18,4260	no	coding-synonymous	DLX6	NM_005222.3		0,18,6407	GG,GA,AA		0.2104,0.0,0.1401		282/294	96639323	18,12832	2147	4278	6425	SO:0001819	synonymous_variant	1750				nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:96639323A>G		CCDS47647.1, CCDS47647.2	7q21.3	2011-06-20	2005-12-22		ENSG00000006377	ENSG00000006377		"""Homeoboxes / ANTP class : NKL subclass"""	2919	protein-coding gene	gene with protein product		600030	"""distal-less homeo box 6"""			7907794	Standard	NM_005222		Approved		uc022ahu.1	P56179	OTTHUMG00000154201	ENST00000518156.2:c.846A>G	7.37:g.96639323A>G						DLX6-AS1_ENST00000430404.2_RNA|DLX6_ENST00000007660.5_Silent_p.P254P|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000430027.2_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6_ENST00000555308.1_Silent_p.P154P|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6_ENST00000493273.2_3'UTR	p.P282P			P56179	DLX6_HUMAN			3	1276	+	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)		164					A4D1I2|B3KSQ0|J3KR92|Q3ZAR6|Q9UPL2	Silent	SNP	ENST00000518156.2	37	c.846A>G	CCDS47647.2																																																																																				0.567	DLX6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334373.4	NM_005222		3	19	0	0	0	1	0	3	19				
GABRB1	2560	broad.mit.edu	37	4	47427768	47427768	+	Silent	SNP	C	C	T			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr4:47427768C>T	ENST00000295454.3	+	9	1450	c.1158C>T	c.(1156-1158)agC>agT	p.S386S	GABRB1_ENST00000538619.1_Silent_p.S316S	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	386					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TGCTCACGAGCGTGAGCGACC	0.622																																						ENST00000295454.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1156-1158)agC>agT		gamma-aminobutyric acid (GABA) A receptor, beta 1	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						60.0	63.0	62.0					4																	47427768		2203	4300	6503	SO:0001819	synonymous_variant	2560				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:47427768C>T		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4081	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 1"""	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.1158C>T	4.37:g.47427768C>T						GABRB1_ENST00000538619.1_Silent_p.S316S	p.S386S	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN			9	1450	+			386					B2R6U7|D6REL3|Q16166|Q8TBK3	Silent	SNP	ENST00000295454.3	37	c.1158C>T	CCDS3474.1																																																																																				0.622	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1			15	65	0	0	0	1	0	15	65				
COL14A1	7373	broad.mit.edu	37	8	121290407	121290407	+	Missense_Mutation	SNP	A	A	C			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr8:121290407A>C	ENST00000297848.3	+	27	3541	c.3271A>C	c.(3271-3273)Aaa>Caa	p.K1091Q	COL14A1_ENST00000247781.3_Missense_Mutation_p.K996Q|COL14A1_ENST00000309791.4_Missense_Mutation_p.K1091Q	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AAATGCTTACAAAACCAAAGA	0.368																																						ENST00000297848.3																			0				NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.(3271-3273)Aaa>Caa		collagen, type XIV, alpha 1							91.0	94.0	93.0					8																	121290407		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121290407A>C		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.3271A>C	8.37:g.121290407A>C	ENSP00000297848:p.Lys1091Gln					COL14A1_ENST00000309791.4_Missense_Mutation_p.K1091Q|COL14A1_ENST00000247781.3_Missense_Mutation_p.K996Q	p.K1091Q	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		27	3541	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		1091			VWFA 2.			Missense_Mutation	SNP	ENST00000297848.3	37	c.3271A>C	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	A	12.23	1.874414	0.33069	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781	D;D;D	0.83163	-1.69;-1.69;-1.69	5.6	4.46	0.54185	von Willebrand factor, type A (3);	0.329489	0.35708	N	0.003027	T	0.70482	0.3229	N	0.20574	0.59	0.80722	D	1	B	0.18610	0.029	B	0.20384	0.029	T	0.62148	-0.6915	10	0.24483	T	0.36	.	11.2703	0.49136	0.9286:0.0:0.0714:0.0	.	1091	Q05707	COEA1_HUMAN	Q	1091;1091;996	ENSP00000311809:K1091Q;ENSP00000297848:K1091Q;ENSP00000247781:K996Q	ENSP00000247781:K996Q	K	+	1	0	COL14A1	121359588	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	1.179000	0.31993	0.966000	0.38159	0.528000	0.53228	AAA		0.368	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		7	171	0	0	0	1	0	7	171				
IFIT3	3437	broad.mit.edu	37	10	91098516	91098516	+	Missense_Mutation	SNP	A	A	T			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr10:91098516A>T	ENST00000371818.4	+	2	284	c.104A>T	c.(103-105)gAa>gTa	p.E35V	LIPA_ENST00000371837.1_Intron|IFIT3_ENST00000371811.4_Missense_Mutation_p.E35V|LIPA_ENST00000487618.1_Intron	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3	35					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						AGGGATCTAGAAGATAGAGTG	0.403																																						ENST00000371818.4																			0				breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						c.(103-105)gAa>gTa		interferon-induced protein with tetratricopeptide repeats 3							90.0	88.0	89.0					10																	91098516		2203	4300	6503	SO:0001583	missense	3437				type I interferon-mediated signaling pathway		protein binding	g.chr10:91098516A>T	U52513	CCDS7402.1, CCDS31241.1	10q23.31	2014-05-22	2004-07-16	2004-07-16	ENSG00000119917	ENSG00000119917		"""Tetratricopeptide (TTC) repeat domain containing"""	5411	protein-coding gene	gene with protein product		604650	"""interferon-induced protein with tetratricopeptide repeats 4"""	IFIT4		9828129, 9391139	Standard	NM_001031683		Approved	ISG60, RIG-G, CIG-49, IFI60, GARG-49, IRG2	uc001kgg.3	O14879	OTTHUMG00000018708	ENST00000371818.4:c.104A>T	10.37:g.91098516A>T	ENSP00000360883:p.Glu35Val					IFIT3_ENST00000371811.4_Missense_Mutation_p.E35V|LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	p.E35V	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN			2	284	+			35					Q99634|Q9BSK7	Missense_Mutation	SNP	ENST00000371818.4	37	c.104A>T	CCDS7402.1	.	.	.	.	.	.	.	.	.	.	A	15.81	2.942250	0.53079	.	.	ENSG00000119917	ENST00000371818;ENST00000371811	T;T	0.71934	-0.61;-0.61	5.37	5.37	0.77165	.	0.414681	0.25099	N	0.033160	D	0.85809	0.5783	M	0.87971	2.92	0.38137	D	0.938344	D	0.89917	1.0	D	0.81914	0.995	D	0.89522	0.3779	10	0.87932	D	0	-17.04	15.2636	0.73643	1.0:0.0:0.0:0.0	.	35	O14879	IFIT3_HUMAN	V	35	ENSP00000360883:E35V;ENSP00000360876:E35V	ENSP00000360876:E35V	E	+	2	0	IFIT3	91088496	1.000000	0.71417	0.974000	0.42286	0.345000	0.29048	4.614000	0.61183	2.340000	0.79590	0.528000	0.53228	GAA		0.403	IFIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049294.1	NM_001549		15	66	0	0	0	1	0	15	66				
EBF1	1879	broad.mit.edu	37	5	158139244	158139244	+	Silent	SNP	G	G	A			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr5:158139244G>A	ENST00000313708.6	-	14	1749	c.1467C>T	c.(1465-1467)aaC>aaT	p.N489N	EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Silent_p.N458N|EBF1_ENST00000517373.1_Intron	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	489	Pro/Ser/Thr-rich.				multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGCCGTATCCGTTCATGCTCG	0.572			T	HMGA2	lipoma																																	ENST00000313708.6				Dom	yes		5	5q34	1879	T	early B-cell factor 1			M	HMGA2		lipoma	HMGA2/EBF1(2)	0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1465-1467)aaC>aaT		early B-cell factor 1							111.0	81.0	91.0					5																	158139244		2203	4300	6503	SO:0001819	synonymous_variant	1879				multicellular organismal development	nucleus	DNA binding|metal ion binding	g.chr5:158139244G>A	AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"""early B-cell factor"""	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.1467C>T	5.37:g.158139244G>A						EBF1_ENST00000517373.1_Intron|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Silent_p.N458N	p.N489N	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		14	1749	-	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	489			Pro/Ser/Thr-rich.		Q8IW11	Silent	SNP	ENST00000313708.6	37	c.1467C>T	CCDS4343.1																																																																																				0.572	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	NM_024007		3	18	0	0	0	1	0	3	18				
RAD54B	25788	broad.mit.edu	37	8	95403862	95403862	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr8:95403862G>A	ENST00000336148.5	-	10	1908	c.1784C>T	c.(1783-1785)cCc>cTc	p.P595L		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	595					ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			CAAAAGGCAGGGGTGATTGCA	0.403								Direct reversal of damage;Homologous recombination																														ENST00000336148.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1783-1785)cCc>cTc	Direct reversal of damage;Homologous recombination	RAD54 homolog B (S. cerevisiae)							114.0	115.0	114.0					8																	95403862		2203	4300	6503	SO:0001583	missense	25788				double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding	g.chr8:95403862G>A	AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.1784C>T	8.37:g.95403862G>A	ENSP00000336606:p.Pro595Leu						p.P595L	NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00217)		10	1908	-	Breast(36;4.5e-05)		0					F6WBS8	Missense_Mutation	SNP	ENST00000336148.5	37	c.1784C>T	CCDS6262.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.959860	0.92791	.	.	ENSG00000197275	ENST00000336148;ENST00000546218	T	0.79940	-1.32	5.11	5.11	0.69529	SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.93552	0.7942	H	0.96576	3.845	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95583	0.8648	10	0.87932	D	0	-5.0729	18.9031	0.92451	0.0:0.0:1.0:0.0	.	595	Q9Y620	RA54B_HUMAN	L	595;267	ENSP00000336606:P595L	ENSP00000336606:P595L	P	-	2	0	RAD54B	95473038	1.000000	0.71417	0.999000	0.59377	0.956000	0.61745	9.813000	0.99286	2.520000	0.84964	0.650000	0.86243	CCC		0.403	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257806.3	NM_012415		22	256	0	0	0	1	0	22	256				
RBMXL2	27288	broad.mit.edu	37	11	7111246	7111246	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr11:7111246C>T	ENST00000306904.5	+	1	1082	c.895C>T	c.(895-897)Ccg>Tcg	p.P299S		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	299	Arg/Gly/Pro-rich.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACGGGGGACACCGCCATCTTA	0.662																																						ENST00000306904.5																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(895-897)Ccg>Tcg		RNA binding motif protein, X-linked-like 2							17.0	20.0	19.0					11																	7111246		2194	4291	6485	SO:0001583	missense	27288					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr11:7111246C>T	AF069682	CCDS7777.1	11p15	2013-07-16				ENSG00000170748		"""RNA binding motif (RRM) containing"""	17886	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G T"""	605444				10958650	Standard	NM_014469		Approved	HNRNPG-T, HNRPGT	uc001mfc.2	O75526		ENST00000306904.5:c.895C>T	11.37:g.7111246C>T	ENSP00000304139:p.Pro299Ser						p.P299S	NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN		Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	1082	+			299			Arg/Gly/Pro-rich.		Q6PEZ2|Q9NQU0	Missense_Mutation	SNP	ENST00000306904.5	37	c.895C>T	CCDS7777.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.871765	0.51695	.	.	ENSG00000170748	ENST00000306904	T	0.78003	-1.14	3.51	3.51	0.40186	.	0.000000	0.85682	U	0.000000	T	0.81973	0.4936	L	0.52759	1.655	0.49483	D	0.999791	D	0.69078	0.997	P	0.61328	0.887	D	0.83488	0.0068	10	0.59425	D	0.04	.	13.3352	0.60515	0.0:1.0:0.0:0.0	.	299	O75526	HNRGT_HUMAN	S	299	ENSP00000304139:P299S	ENSP00000304139:P299S	P	+	1	0	RBMXL2	7067822	1.000000	0.71417	0.897000	0.35233	0.317000	0.28152	6.836000	0.75349	2.246000	0.74042	0.563000	0.77884	CCG		0.662	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384552.1	NM_014469		3	25	0	0	0	1	0	3	25				
CSMD1	64478	broad.mit.edu	37	8	2820898	2820898	+	Silent	SNP	C	C	T			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr8:2820898C>T	ENST00000520002.1	-	61	9858	c.9303G>A	c.(9301-9303)ccG>ccA	p.P3101P	CSMD1_ENST00000542608.1_Silent_p.P2923P|CSMD1_ENST00000400186.3_Silent_p.P2924P|CSMD1_ENST00000602723.1_Silent_p.P2924P|CSMD1_ENST00000602557.1_Silent_p.P3101P|CSMD1_ENST00000537824.1_Silent_p.P3100P			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3101	Sushi 25. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCACCGGCGGCGGCTGAGGAC	0.527																																						ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.(9301-9303)ccG>ccA		CUB and Sushi multiple domains 1							130.0	134.0	133.0					8																	2820898		1917	4151	6068	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:2820898C>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.9303G>A	8.37:g.2820898C>T						CSMD1_ENST00000602723.1_Silent_p.P2924P|CSMD1_ENST00000602557.1_Silent_p.P3101P|CSMD1_ENST00000400186.3_Silent_p.P2924P|CSMD1_ENST00000542608.1_Silent_p.P2923P|CSMD1_ENST00000537824.1_Silent_p.P3100P	p.P3101P			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	61	9858	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	3101			Sushi 25.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.9303G>A		.	.	.	.	.	.	.	.	.	.	c	4.594	0.110304	0.08780	.	.	ENSG00000183117	ENST00000335551	.	.	.	6.03	-10.2	0.00374	.	.	.	.	.	T	0.42944	0.1225	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50625	-0.8806	4	.	.	.	.	6.0517	0.19789	0.3554:0.1472:0.4199:0.0775	.	.	.	.	T	2518	.	.	A	-	1	0	CSMD1	2808305	0.005000	0.15991	0.106000	0.21319	0.002000	0.02628	-0.904000	0.04080	-1.973000	0.00999	-2.051000	0.00406	GCC		0.527	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		30	84	0	0	0	1	0	30	84				
BTD	686	broad.mit.edu	37	3	15686064	15686064	+	Missense_Mutation	SNP	C	C	T	rs587783005		TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr3:15686064C>T	ENST00000303498.5	+	4	810	c.701C>T	c.(700-702)aCc>aTc	p.T234I	BTD_ENST00000437172.1_Missense_Mutation_p.T236I|BTD_ENST00000383778.4_Missense_Mutation_p.T214I|BTD_ENST00000449107.1_Missense_Mutation_p.T236I	NM_000060.2|NM_001281723.1	NP_000051.1|NP_001268652.1	P43251	BTD_HUMAN	biotinidase	234	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				biotin metabolic process (GO:0006768)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleolus (GO:0005730)|perikaryon (GO:0043204)	biotin carboxylase activity (GO:0004075)|biotinidase activity (GO:0047708)			breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						ACCTTTGATACCCCCTTTGCT	0.453																																						ENST00000383778.4																			0				breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						c.(640-642)aCc>aTc		biotinidase							177.0	143.0	155.0					3																	15686064		2203	4300	6503	SO:0001583	missense	686				central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity	g.chr3:15686064C>T	AF018631	CCDS2628.1, CCDS63563.1, CCDS63564.1, CCDS63565.1	3p25	2007-03-26			ENSG00000169814	ENSG00000169814	3.5.1.12		1122	protein-coding gene	gene with protein product		609019				8001986	Standard	NM_001281723		Approved		uc003cah.3	P43251	OTTHUMG00000129861	ENST00000303498.5:c.701C>T	3.37:g.15686064C>T	ENSP00000306477:p.Thr234Ile					BTD_ENST00000449107.1_Missense_Mutation_p.T236I|BTD_ENST00000437172.1_Missense_Mutation_p.T236I|BTD_ENST00000303498.5_Missense_Mutation_p.T234I	p.T214I			P43251	BTD_HUMAN			4	999	+			234			CN hydrolase.		A6NHF2|B2R865|B4DFX1|B4DLJ9|B7Z7C9|F8W1Q3|Q96EM9	Missense_Mutation	SNP	ENST00000303498.5	37	c.641C>T	CCDS2628.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.030872	0.75504	.	.	ENSG00000169814	ENST00000449107;ENST00000303498;ENST00000437172;ENST00000436193;ENST00000383778	D;D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31;-2.31	5.73	5.73	0.89815	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	0.000000	0.85682	D	0.000000	D	0.95079	0.8406	M	0.90145	3.09	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95403	0.8491	10	0.87932	D	0	-12.5757	19.8778	0.96885	0.0:1.0:0.0:0.0	.	236;236;234	A6NHF2;B4DLJ9;P43251	.;.;BTD_HUMAN	I	236;234;236;214;214	ENSP00000388212:T236I;ENSP00000306477:T234I;ENSP00000400995:T236I;ENSP00000394277:T214I;ENSP00000373288:T214I	ENSP00000306477:T234I	T	+	2	0	BTD	15661068	1.000000	0.71417	0.984000	0.44739	0.462000	0.32619	7.818000	0.86416	2.709000	0.92574	0.491000	0.48974	ACC		0.453	BTD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252103.2	NM_000060		8	78	0	0	0	1	0	8	78				
ST3GAL5	8869	broad.mit.edu	37	2	86071564	86071564	+	Silent	SNP	G	G	A			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr2:86071564G>A	ENST00000377332.3	-	6	1071	c.963C>T	c.(961-963)atC>atT	p.I321I	ST3GAL5_ENST00000393808.3_Silent_p.I298I|ST3GAL5_ENST00000393805.1_Silent_p.I293I	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	321					carbohydrate metabolic process (GO:0005975)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	lactosylceramide alpha-2,3-sialyltransferase activity (GO:0047291)|neolactotetraosylceramide alpha-2,3-sialyltransferase activity (GO:0004513)|sialyltransferase activity (GO:0008373)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						AGTACTGAAGGATGTCAAAGG	0.438																																						ENST00000377332.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						c.(961-963)atC>atT		ST3 beta-galactoside alpha-2,3-sialyltransferase 5							110.0	107.0	108.0					2																	86071564		2203	4300	6503	SO:0001819	synonymous_variant	8869				ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity	g.chr2:86071564G>A	AB018356	CCDS1986.2, CCDS42705.1	2p11.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000115525	ENSG00000115525	2.4.99.9	"""Sialyltransferases"""	10872	protein-coding gene	gene with protein product		604402	"""sialyltransferase 9 (CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase; GM3 synthase)"""	SIAT9		9822625	Standard	NM_003896		Approved	ST3GalV, SIATGM3S	uc002sqq.1	Q9UNP4	OTTHUMG00000130171	ENST00000377332.3:c.963C>T	2.37:g.86071564G>A						ST3GAL5_ENST00000393805.1_Silent_p.I293I|ST3GAL5_ENST00000393808.3_Silent_p.I298I	p.I321I	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN			6	1071	-			321					B3KM82|D6W5L9|O94902|Q53QU1|Q6NZX4|Q6YFL1	Silent	SNP	ENST00000377332.3	37	c.963C>T	CCDS1986.2																																																																																				0.438	ST3GAL5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252486.1	NM_003896		7	55	0	0	0	1	0	7	55				
ADAMTS5	11096	broad.mit.edu	37	21	28327064	28327064	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr21:28327064C>T	ENST00000284987.5	-	2	1352	c.1231G>A	c.(1231-1233)Gaa>Aaa	p.E411K	MIR4759_ENST00000584048.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	411	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						ATACCGATTTCGTGAGCCACA	0.488																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	ENST00000284987.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						c.(1231-1233)Gaa>Aaa		ADAM metallopeptidase with thrombospondin type 1 motif, 5							117.0	110.0	112.0					21																	28327064		2203	4300	6503	SO:0001583	missense	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28327064C>T	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.1231G>A	21.37:g.28327064C>T	ENSP00000284987:p.Glu411Lys						p.E411K	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN			2	1352	-			411			Peptidase M12B.		Q52LV4|Q9UKP2	Missense_Mutation	SNP	ENST00000284987.5	37	c.1231G>A	CCDS13579.1	.	.	.	.	.	.	.	.	.	.	C	35	5.533176	0.96460	.	.	ENSG00000154736	ENST00000284987	D	0.96522	-4.04	5.18	5.18	0.71444	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.99099	0.9690	H	0.99074	4.42	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98874	1.0767	10	0.87932	D	0	.	18.8824	0.92362	0.0:1.0:0.0:0.0	.	411	Q9UNA0	ATS5_HUMAN	K	411	ENSP00000284987:E411K	ENSP00000284987:E411K	E	-	1	0	ADAMTS5	27248935	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.710000	0.92621	0.650000	0.86243	GAA		0.488	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			13	42	0	0	0	1	0	13	42				
EEA1	8411	broad.mit.edu	37	12	93251231	93251231	+	Silent	SNP	G	G	T			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr12:93251231G>T	ENST00000322349.8	-	4	540	c.276C>A	c.(274-276)gtC>gtA	p.V92V	EEA1_ENST00000547833.1_5'UTR	NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	92					early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						GTAGGTCTTGGACCTCTTGTC	0.294																																						ENST00000322349.8																			0				endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						c.(274-276)gtC>gtA		early endosome antigen 1							103.0	113.0	109.0					12																	93251231		2203	4288	6491	SO:0001819	synonymous_variant	8411				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding	g.chr12:93251231G>T	L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"""Zinc fingers, FYVE domain containing"""	3185	protein-coding gene	gene with protein product		605070	"""early endosome antigen 1, 162kD"""			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.276C>A	12.37:g.93251231G>T						EEA1_ENST00000547833.1_5'UTR	p.V92V	NM_003566.3	NP_003557.2	Q15075	EEA1_HUMAN			4	540	-			92					Q14221	Silent	SNP	ENST00000322349.8	37	c.276C>A	CCDS31874.1																																																																																				0.294	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566		40	70	1	0	4.14481e-20	1	4.503e-20	40	70				
TRPM3	80036	broad.mit.edu	37	9	73235024	73235024	+	Silent	SNP	G	G	A	rs530661575	byFrequency	TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr9:73235024G>A	ENST00000377111.2	-	15	2304	c.2061C>T	c.(2059-2061)gaC>gaT	p.D687D	TRPM3_ENST00000396292.4_Silent_p.D559D|TRPM3_ENST00000396280.5_Silent_p.D536D|TRPM3_ENST00000377105.1_Silent_p.D546D|TRPM3_ENST00000408909.2_Silent_p.D546D|TRPM3_ENST00000377110.3_Silent_p.D687D|TRPM3_ENST00000377106.1_Silent_p.D559D|TRPM3_ENST00000357533.2_Silent_p.D691D|TRPM3_ENST00000396285.1_Silent_p.D534D|TRPM3_ENST00000423814.3_Silent_p.D714D|TRPM3_ENST00000360823.2_Silent_p.D549D|TRPM3_ENST00000358082.3_Silent_p.D549D	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	712					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GGGAAATGTCGTCAACCATGT	0.597													G|||	2	0.000399361	0.0	0.0	5008	,	,		20705	0.001		0.0	False		,,,				2504	0.001					ENST00000377110.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(2059-2061)gaC>gaT		transient receptor potential cation channel, subfamily M, member 3							74.0	70.0	72.0					9																	73235024		2203	4300	6503	SO:0001819	synonymous_variant	80036					integral to membrane	calcium channel activity	g.chr9:73235024G>A	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.2061C>T	9.37:g.73235024G>A						TRPM3_ENST00000423814.3_Silent_p.D714D|TRPM3_ENST00000377105.1_Silent_p.D546D|TRPM3_ENST00000408909.2_Silent_p.D546D|TRPM3_ENST00000396280.5_Silent_p.D536D|TRPM3_ENST00000377111.2_Silent_p.D687D|TRPM3_ENST00000396285.1_Silent_p.D534D|TRPM3_ENST00000377106.1_Silent_p.D559D|TRPM3_ENST00000360823.2_Silent_p.D549D|TRPM3_ENST00000396292.4_Silent_p.D559D|TRPM3_ENST00000357533.2_Silent_p.D691D|TRPM3_ENST00000358082.3_Silent_p.D549D	p.D687D	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN			15	2304	-			712					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Silent	SNP	ENST00000377111.2	37	c.2061C>T		.	.	.	.	.	.	.	.	.	.	G	6.191	0.403398	0.11754	.	.	ENSG00000083067	ENST00000396280	.	.	.	6.07	-2.28	0.06826	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-22.3089	11.5618	0.50780	0.5824:0.0:0.4176:0.0	.	.	.	.	X	536	.	.	R	-	1	2	TRPM3	72424844	0.526000	0.26298	0.849000	0.33467	0.736000	0.42039	-0.034000	0.12225	-0.637000	0.05516	-1.761000	0.00669	CGA		0.597	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		8	36	0	0	0	1	0	8	36				
TMEM132A	54972	broad.mit.edu	37	11	60699157	60699157	+	Intron	SNP	G	G	A			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr11:60699157G>A	ENST00000453848.2	+	6	1174				TMEM132A_ENST00000005286.4_Splice_Site			Q24JP5	T132A_HUMAN	transmembrane protein 132A							endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CCTTTGGCCAGCAGTCCCCTT	0.552																																						ENST00000005286.4																			0				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						c.e6-1		transmembrane protein 132A							85.0	77.0	80.0					11																	60699157		2203	4299	6502	SO:0001627	intron_variant	54972					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:60699157G>A	AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"""heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"""	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.1017-4G>A	11.37:g.60699157G>A						TMEM132A_ENST00000453848.2_Intron		NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN			6	1169	+								Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Splice_Site	SNP	ENST00000453848.2	37		CCDS44618.1	.	.	.	.	.	.	.	.	.	.	G	5.832	0.337723	0.11013	.	.	ENSG00000006118	ENST00000444690;ENST00000005286	.	.	.	4.69	3.78	0.43462	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1271	0.48325	0.0876:0.0:0.9124:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMEM132A	60455733	0.939000	0.31865	0.992000	0.48379	0.022000	0.10575	2.007000	0.40883	1.117000	0.41842	0.455000	0.32223	.		0.552	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	NM_017870		13	135	0	0	0	1	0	13	135				
ARHGEF19	128272	broad.mit.edu	37	1	16531390	16531390	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr1:16531390G>A	ENST00000270747.3	-	12	1907	c.1771C>T	c.(1771-1773)Cgc>Tgc	p.R591C	ARHGEF19_ENST00000478117.1_5'UTR	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	591					regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)		GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		ACCAGCCAGCGGGCCTGAGAG	0.607																																						ENST00000270747.3																			0				cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12						c.(1771-1773)Cgc>Tgc		Rho guanine nucleotide exchange factor (GEF) 19							30.0	25.0	27.0					1																	16531390		2202	4300	6502	SO:0001583	missense	128272				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr1:16531390G>A	BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632		"""Rho guanine nucleotide exchange factors"""	26604	protein-coding gene	gene with protein product		612496				12477932	Standard	NM_153213		Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.1771C>T	1.37:g.16531390G>A	ENSP00000270747:p.Arg591Cys					ARHGEF19_ENST00000421561.1_Intron|ARHGEF19_ENST00000478117.1_5'UTR	p.R591C	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)	12	1907	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	591					A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	Missense_Mutation	SNP	ENST00000270747.3	37	c.1771C>T	CCDS170.1	.	.	.	.	.	.	.	.	.	.	G	19.86	3.905606	0.72868	.	.	ENSG00000142632	ENST00000270747	T	0.72725	-0.68	4.41	4.41	0.53225	Pleckstrin homology-type (1);	0.156563	0.39759	N	0.001266	D	0.85353	0.5677	M	0.86343	2.81	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.88209	0.2889	10	0.87932	D	0	.	14.5182	0.67833	0.0:0.0:1.0:0.0	.	591	Q8IW93	ARHGJ_HUMAN	C	591	ENSP00000270747:R591C	ENSP00000270747:R591C	R	-	1	0	ARHGEF19	16403977	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.091000	0.50199	2.272000	0.75746	0.561000	0.74099	CGC		0.607	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006289.1	NM_153213		5	5	0	0	0	1	0	5	5				
SH2B2	10603	broad.mit.edu	37	7	101952153	101952153	+	Silent	SNP	G	G	A	rs184838046		TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr7:101952153G>A	ENST00000536178.1	+	4	1062	c.1017G>A	c.(1015-1017)tcG>tcA	p.S339S	SH2B2_ENST00000306803.8_Silent_p.S296S			O14492	SH2B2_HUMAN	SH2B adaptor protein 2	296					actin cytoskeleton organization (GO:0030036)|antigen receptor-mediated signaling pathway (GO:0050851)|B-1 B cell homeostasis (GO:0001922)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cytokine-mediated signaling pathway (GO:0019221)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|regulation of JAK-STAT cascade (GO:0046425)|regulation of metabolic process (GO:0019222)|regulation of Ras protein signal transduction (GO:0046578)|signal transduction (GO:0007165)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stress fiber (GO:0001725)	JAK pathway signal transduction adaptor activity (GO:0008269)|SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9						AGAAGCACTCGTGGGTAGCTG	0.592																																						ENST00000536178.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9						c.(1015-1017)tcG>tcA		SH2B adaptor protein 2		G		0,4240		0,0,2120	141.0	151.0	148.0		1017	-6.1	0.9	7		148	4,8476		0,4,4236	no	coding-synonymous	SH2B2	NM_020979.3		0,4,6356	AA,AG,GG		0.0472,0.0,0.0314		339/593	101952153	4,12716	2120	4240	6360	SO:0001819	synonymous_variant	10603				blood coagulation|insulin receptor signaling pathway|intracellular signal transduction	cytosol|plasma membrane	JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity	g.chr7:101952153G>A	AB000520		7q22.1	2013-02-14			ENSG00000160999	ENSG00000160999		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	17381	protein-coding gene	gene with protein product	"""adaptor protein with pleckstrin homology and src"""	605300				9233773	Standard	XM_005276976		Approved	APS	uc011kko.2	O14492	OTTHUMG00000150652	ENST00000536178.1:c.1017G>A	7.37:g.101952153G>A						SH2B2_ENST00000306803.8_Silent_p.S296S	p.S339S			O14492	SH2B2_HUMAN			4	1062	+			296					A6ND74	Silent	SNP	ENST00000536178.1	37	c.1017G>A																																																																																					0.592	SH2B2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_020979		9	216	0	0	0	1	0	9	216				
BCLAF1	9774	broad.mit.edu	37	6	136597075	136597075	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr6:136597075C>T	ENST00000531224.1	-	5	1840	c.1588G>A	c.(1588-1590)Gaa>Aaa	p.E530K	BCLAF1_ENST00000527536.1_Missense_Mutation_p.E530K|BCLAF1_ENST00000392348.2_Missense_Mutation_p.E528K|BCLAF1_ENST00000530767.1_Missense_Mutation_p.E357K|BCLAF1_ENST00000353331.4_Missense_Mutation_p.E528K|BCLAF1_ENST00000527759.1_Missense_Mutation_p.E528K	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	530					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AGTGGGCTTTCCTCTCTGAAG	0.433																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(1588-1590)Gaa>Aaa		BCL2-associated transcription factor 1							212.0	215.0	214.0					6																	136597075		2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136597075C>T	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1588G>A	6.37:g.136597075C>T	ENSP00000435210:p.Glu530Lys					BCLAF1_ENST00000353331.4_Missense_Mutation_p.E528K|BCLAF1_ENST00000527536.1_Missense_Mutation_p.E530K|BCLAF1_ENST00000392348.2_Missense_Mutation_p.E528K|BCLAF1_ENST00000530767.1_Missense_Mutation_p.E357K|BCLAF1_ENST00000527759.1_Missense_Mutation_p.E528K	p.E530K	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	5	1840	-	Colorectal(23;0.24)		530					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.1588G>A	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.528540	0.85706	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.13657	2.57;2.57;2.57;2.57;2.57;2.57;2.57	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000004	T	0.19287	0.0463	L	0.29908	0.895	0.58432	D	0.99999	D;D;D;D	0.63880	0.971;0.993;0.971;0.974	P;D;P;D	0.67725	0.882;0.917;0.882;0.953	T	0.01570	-1.1322	10	0.51188	T	0.08	-9.913	19.7634	0.96333	0.0:1.0:0.0:0.0	.	528;528;530;357	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	K	530;528;530;357;528;528;530	ENSP00000435210:E530K;ENSP00000229446:E528K;ENSP00000435441:E530K;ENSP00000436501:E357K;ENSP00000434826:E528K;ENSP00000376159:E528K;ENSP00000431734:E530K	ENSP00000229446:E528K	E	-	1	0	BCLAF1	136638768	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.321000	0.59209	2.747000	0.94245	0.460000	0.39030	GAA		0.433	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		22	315	0	0	0	1	0	22	315				
HERC2P3	283755	broad.mit.edu	37	15	20644850	20644850	+	RNA	SNP	G	G	A			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr15:20644850G>A	ENST00000428453.1	-	0	3097							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)	p.A803V(4)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CATGTCCCTCGCCCTTTCGGT	0.463																																						ENST00000428453.1																			4	Substitution - Missense(4)	p.A803V(4)	lung(3)|endometrium(1)	central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35															116.0	62.0	82.0					15																	20644850		1509	2699	4208			283755							g.chr15:20644850G>A	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20644850G>A														0	3097	-									RNA	SNP	ENST00000428453.1	37																																																																																						0.463	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		3	39	0	0	0	1	0	3	39				
HDC	3067	broad.mit.edu	37	15	50555449	50555449	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr15:50555449G>A	ENST00000267845.3	-	2	589	c.187C>T	c.(187-189)Cga>Tga	p.R63*	HDC_ENST00000543581.1_Nonsense_Mutation_p.R63*	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0	Ala/Gly-rich.				respiratory tube development (GO:0030323)	membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		ATGATGATTCGTTCAATGTCC	0.592																																					GBM(95;1627 1936 6910 9570)	ENST00000267845.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(187-189)Cga>Tga		histidine decarboxylase	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)						169.0	153.0	159.0					15																	50555449		2196	4295	6491	SO:0001587	stop_gained	3067				catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	g.chr15:50555449G>A		CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.187C>T	15.37:g.50555449G>A	ENSP00000267845:p.Arg63*					HDC_ENST00000543581.1_Nonsense_Mutation_p.R63*	p.R63*	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	2	589	-		all_lung(180;0.0138)	63						Nonsense_Mutation	SNP	ENST00000267845.3	37	c.187C>T	CCDS10134.1	.	.	.	.	.	.	.	.	.	.	G	35	5.500542	0.96355	.	.	ENSG00000140287	ENST00000267845;ENST00000543581	.	.	.	6.05	2.88	0.33553	.	0.514144	0.20982	N	0.082196	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.8439	9.651	0.39897	0.0:0.1036:0.3273:0.5691	.	.	.	.	X	63	.	ENSP00000267845:R63X	R	-	1	2	HDC	48342741	0.997000	0.39634	0.664000	0.29753	0.806000	0.45545	2.601000	0.46249	0.867000	0.35654	-0.175000	0.13238	CGA		0.592	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254540.1			19	97	0	0	0	1	0	19	97				
FAM47B	170062	broad.mit.edu	37	X	34962238	34962238	+	Silent	SNP	C	C	T			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chrX:34962238C>T	ENST00000329357.5	+	1	1326	c.1290C>T	c.(1288-1290)acC>acT	p.T430T		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	430										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CTACCAAGACCGGAGCGTCCC	0.532																																						ENST00000329357.5																			0				breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						c.(1288-1290)acC>acT		family with sequence similarity 47, member B							75.0	70.0	72.0					X																	34962238		2202	4300	6502	SO:0001819	synonymous_variant	170062							g.chrX:34962238C>T	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.1290C>T	X.37:g.34962238C>T							p.T430T	NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN			1	1326	+			430					Q5JQN5|Q6PIG3	Silent	SNP	ENST00000329357.5	37	c.1290C>T	CCDS14236.1																																																																																				0.532	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		13	31	0	0	0	1	0	13	31				
PLB1	151056	broad.mit.edu	37	2	28812421	28812421	+	Splice_Site	SNP	G	G	A			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr2:28812421G>A	ENST00000327757.5	+	27	1964	c.1920G>A	c.(1918-1920)tcG>tcA	p.S640S	PLB1_ENST00000422425.2_Splice_Site_p.S629S|PLB1_ENST00000329020.6_Splice_Site_p.S328S	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	640	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CAAAGACCTCGGTAAAGAAAG	0.443																																						ENST00000422425.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69						c.e26+1		phospholipase B1							108.0	99.0	102.0					2																	28812421		2203	4300	6503	SO:0001630	splice_region_variant	151056				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	g.chr2:28812421G>A		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.1920+1G>A	2.37:g.28812421G>A						PLB1_ENST00000329020.6_Splice_Site_p.S328_splice|PLB1_ENST00000327757.5_Splice_Site_p.S640_splice	p.S629_splice	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN			26	1931	+	Acute lymphoblastic leukemia(172;0.155)		640			4 X 308-326 AA approximate repeats.		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Splice_Site	SNP	ENST00000327757.5	37	c.1887_splice	CCDS33168.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.135493	0.37728	.	.	ENSG00000163803	ENST00000404858	.	.	.	5.99	5.99	0.97316	.	.	.	.	.	T	0.74176	0.3682	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71427	-0.4596	4	.	.	.	3.502	17.3945	0.87441	0.0:0.0:1.0:0.0	.	.	.	.	Q	628	.	.	R	+	2	0	PLB1	28665925	1.000000	0.71417	0.955000	0.39395	0.625000	0.37756	3.521000	0.53472	2.840000	0.97914	0.655000	0.94253	CGG		0.443	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2		Silent	13	49	0	0	0	1	0	13	49				
NRXN1	9378	broad.mit.edu	37	2	51255221	51255221	+	Missense_Mutation	SNP	C	C	T	rs200247365		TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr2:51255221C>T	ENST00000406316.2	-	2	1667	c.191G>A	c.(190-192)cGc>cAc	p.R64H	NRXN1_ENST00000406859.3_Missense_Mutation_p.R64H|NRXN1_ENST00000404971.1_Missense_Mutation_p.R64H|NRXN1_ENST00000405581.1_Missense_Mutation_p.R64H|NRXN1_ENST00000402717.3_Missense_Mutation_p.R64H|NRXN1_ENST00000405472.3_Missense_Mutation_p.R64H|NRXN1_ENST00000401669.2_Missense_Mutation_p.R64H	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	64	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CACGAGGCCGCGGGCGCTGCG	0.652																																						ENST00000404971.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(190-192)cGc>cAc		neurexin 1							10.0	15.0	13.0					2																	51255221		1989	4158	6147	SO:0001583	missense	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:51255221C>T	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.191G>A	2.37:g.51255221C>T	ENSP00000384311:p.Arg64His					NRXN1_ENST00000401669.2_Missense_Mutation_p.R64H|NRXN1_ENST00000406859.3_Missense_Mutation_p.R64H|NRXN1_ENST00000402717.3_Missense_Mutation_p.R64H|NRXN1_ENST00000405581.1_Missense_Mutation_p.R64H|NRXN1_ENST00000406316.2_Missense_Mutation_p.R64H|NRXN1_ENST00000405472.3_Missense_Mutation_p.R64H	p.R64H	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		2	1530	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	64			Laminin G-like 1.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.191G>A	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.811540	0.50527	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859;ENST00000405581	T;T;T;T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24;-1.24;-1.24;-1.24	4.97	4.97	0.65823	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	1.817100	0.05099	U	0.486826	T	0.64670	0.2619	N	0.05383	-0.06	0.23959	N	0.99634	B;B;P	0.50066	0.001;0.005;0.931	B;B;B	0.38378	0.005;0.003;0.272	T	0.62459	-0.6850	10	0.24483	T	0.36	.	18.2347	0.89946	0.0:1.0:0.0:0.0	.	64;64;64	Q9ULB1-3;F8WB18;Q9ULB1	.;.;NRX1A_HUMAN	H	64	ENSP00000385142:R64H;ENSP00000384311:R64H;ENSP00000434015:R64H;ENSP00000385017:R64H;ENSP00000385434:R64H;ENSP00000385681:R64H;ENSP00000385310:R64H	ENSP00000385017:R64H	R	-	2	0	NRXN1	51108725	0.808000	0.29022	0.993000	0.49108	0.996000	0.88848	4.637000	0.61346	2.293000	0.77203	0.563000	0.77884	CGC		0.652	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			6	8	0	0	0	1	0	6	8				
PNPT1	87178	broad.mit.edu	37	2	55874497	55874497	+	Silent	SNP	C	C	T			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr2:55874497C>T	ENST00000447944.2	-	19	1673	c.1587G>A	c.(1585-1587)ttG>ttA	p.L529L		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	529					cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA polyadenylation (GO:0097222)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA 5'-end processing (GO:0000964)|mitochondrial RNA catabolic process (GO:0000957)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle arrest (GO:0071850)|mRNA catabolic process (GO:0006402)|negative regulation of growth (GO:0045926)|nuclear polyadenylation-dependent mRNA catabolic process (GO:0071042)|positive regulation of miRNA catabolic process (GO:2000627)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|positive regulation of mRNA catabolic process (GO:0061014)|protein homooligomerization (GO:0051260)|protein homotrimerization (GO:0070207)|regulation of cellular respiration (GO:0043457)|regulation of cellular senescence (GO:2000772)|RNA catabolic process (GO:0006401)|RNA import into mitochondrion (GO:0035927)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA polyadenylation (GO:0043631)|rRNA import into mitochondrion (GO:0035928)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrial degradosome (GO:0045025)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	3'-5'-exoribonuclease activity (GO:0000175)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|polyribonucleotide nucleotidyltransferase activity (GO:0004654)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TATCTGTCAGCAAACGATAAT	0.313																																						ENST00000447944.2																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27						c.(1585-1587)ttG>ttA		polyribonucleotide nucleotidyltransferase 1							90.0	93.0	92.0					2																	55874497		2203	4300	6503	SO:0001819	synonymous_variant	87178				mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding	g.chr2:55874497C>T	BC053660	CCDS1856.1	2p15	2013-01-08			ENSG00000138035	ENSG00000138035			23166	protein-coding gene	gene with protein product	"""polynucleotide phosphorylase"", ""3'-5' RNA exonuclease"""	610316	"""deafness, autosomal recessive 70"""	DFNB70		12419256	Standard	NM_033109		Approved	PNPase, OLD35, old-35	uc002rzf.3	Q8TCS8	OTTHUMG00000129335	ENST00000447944.2:c.1587G>A	2.37:g.55874497C>T							p.L529L	NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		19	1673	-			529					Q53SU0|Q68CN1|Q7Z7D1|Q8IWX1|Q96T05|Q9BRU3|Q9BVX0	Silent	SNP	ENST00000447944.2	37	c.1587G>A	CCDS1856.1																																																																																				0.313	PNPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251481.2	NM_033109		10	56	0	0	0	1	0	10	56				
KCNA4	3739	broad.mit.edu	37	11	30032606	30032606	+	Silent	SNP	G	G	A	rs201513098	byFrequency	TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr11:30032606G>A	ENST00000328224.6	-	2	2853	c.1620C>T	c.(1618-1620)gtC>gtT	p.V540V	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	540					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	ACAGGGACCCGACAATCTTGC	0.488													G|||	7	0.00139776	0.0038	0.0	5008	,	,		19452	0.001		0.0	False		,,,				2504	0.001					ENST00000328224.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(1618-1620)gtC>gtT		potassium voltage-gated channel, shaker-related subfamily, member 4		G		12,4354	19.1+/-41.9	0,12,2171	60.0	64.0	63.0		1620	0.1	1.0	11		63	0,8590		0,0,4295	no	coding-synonymous	KCNA4	NM_002233.3		0,12,6466	AA,AG,GG		0.0,0.2749,0.0926		540/654	30032606	12,12944	2183	4295	6478	SO:0001819	synonymous_variant	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30032606G>A	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.1620C>T	11.37:g.30032606G>A							p.V540V	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN			2	2853	-			540						Silent	SNP	ENST00000328224.6	37	c.1620C>T	CCDS41629.1																																																																																				0.488	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		8	38	0	0	0	1	0	8	38				
UNC93B1	81622	broad.mit.edu	37	11	67765217	67765217	+	Silent	SNP	C	C	T			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr11:67765217C>T	ENST00000227471.2	-	7	913	c.834G>A	c.(832-834)acG>acA	p.T278T	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	278					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	early phagosome (GO:0032009)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)											TCCGCGGGAGCGTCCGCAGAA	0.657																																						ENST00000227471.2																			0											c.(832-834)acG>acA		unc-93 homolog B1 (C. elegans)							31.0	40.0	37.0					11																	67765217		2062	4199	6261	SO:0001819	synonymous_variant	81622				innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway	early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome		g.chr11:67765217C>T	AJ271326	CCDS73334.1	11q13.2	2014-09-17	2001-11-28		ENSG00000110057	ENSG00000110057			13481	protein-coding gene	gene with protein product		608204	"""unc93 (C. elegans) homolog B1"""			11867227	Standard	NM_030930		Approved	UNC93	uc001omw.1	Q9H1C4	OTTHUMG00000167472	ENST00000227471.2:c.834G>A	11.37:g.67765217C>T						UNC93B1_ENST00000530331.1_5'UTR	p.T278T	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN			7	913	-			278					O95764|Q569H6|Q710D4	Silent	SNP	ENST00000227471.2	37	c.834G>A																																																																																					0.657	UNC93B1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_030930		7	58	0	0	0	1	0	7	58				
MPDZ	8777	broad.mit.edu	37	9	13224399	13224399	+	Missense_Mutation	SNP	C	C	G	rs367848962		TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr9:13224399C>G	ENST00000319217.7	-	4	614	c.367G>C	c.(367-369)Gat>Cat	p.D123H	MPDZ_ENST00000381022.2_Missense_Mutation_p.D123H|MPDZ_ENST00000447879.1_Missense_Mutation_p.D123H|MPDZ_ENST00000536827.1_Missense_Mutation_p.D123H|MPDZ_ENST00000546205.1_Missense_Mutation_p.D123H|MPDZ_ENST00000541718.1_Missense_Mutation_p.D123H|MPDZ_ENST00000381015.4_Missense_Mutation_p.D123H	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	123					cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		ATAAGCTGATCAAATTCATCA	0.338																																						ENST00000319217.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61						c.(367-369)Gat>Cat		multiple PDZ domain protein							123.0	117.0	119.0					9																	13224399		1834	4085	5919	SO:0001583	missense	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13224399C>G	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.367G>C	9.37:g.13224399C>G	ENSP00000320006:p.Asp123His					MPDZ_ENST00000381022.2_Missense_Mutation_p.D123H|MPDZ_ENST00000447879.1_Missense_Mutation_p.D123H|MPDZ_ENST00000541718.1_Missense_Mutation_p.D123H|MPDZ_ENST00000546205.1_Missense_Mutation_p.D123H|MPDZ_ENST00000536827.1_Missense_Mutation_p.D123H|MPDZ_ENST00000381015.4_Missense_Mutation_p.D123H	p.D123H	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	4	614	-			123					A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37	c.367G>C		.	.	.	.	.	.	.	.	.	.	C	22.2	4.259452	0.80246	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T	0.11063	2.87;2.82;2.82;2.81;2.86;2.87;2.87	5.72	5.72	0.89469	.	0.000000	0.46758	D	0.000276	T	0.20414	0.0491	N	0.19112	0.55	0.80722	D	1	P;D;D	0.54601	0.946;0.967;0.967	P;P;P	0.61874	0.752;0.895;0.895	T	0.01692	-1.1294	10	0.59425	D	0.04	.	19.8891	0.96923	0.0:1.0:0.0:0.0	.	123;123;123	B7ZMI4;O75970-3;O75970-2	.;.;.	H	123	ENSP00000320006:D123H;ENSP00000439807:D123H;ENSP00000370410:D123H;ENSP00000444151:D123H;ENSP00000415208:D123H;ENSP00000370403:D123H;ENSP00000446358:D123H	ENSP00000320006:D123H	D	-	1	0	MPDZ	13214399	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.570000	0.73996	2.689000	0.91719	0.655000	0.94253	GAT		0.338	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		27	47	0	0	0	1	0	27	47				
HECTD4	283450	broad.mit.edu	37	12	112703750	112703750	+	Silent	SNP	C	C	G			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr12:112703750C>G	ENST00000430131.2	-	14	2279	c.1134G>C	c.(1132-1134)gtG>gtC	p.V378V	RN7SKP71_ENST00000364558.1_RNA|HECTD4_ENST00000377560.5_Silent_p.V628V|HECTD4_ENST00000550722.1_Silent_p.V666V			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	378					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TGGTTAGGATCACATCCCGTA	0.443																																						ENST00000550722.1																			0											c.(1996-1998)gtG>gtC		HECT domain containing E3 ubiquitin protein ligase 4							179.0	149.0	159.0					12																	112703750		2203	4300	6503	SO:0001819	synonymous_variant	283450							g.chr12:112703750C>G	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.1134G>C	12.37:g.112703750C>G						HECTD4_ENST00000430131.2_Silent_p.V378V|HECTD4_ENST00000377560.5_Silent_p.V628V	p.V666V	NM_001109662.3	NP_001103132.3					15	2393	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.1998G>C																																																																																					0.443	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		5	32	0	0	0	1	0	5	32				
CCDC88B	283234	broad.mit.edu	37	11	64109521	64109521	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr11:64109521C>T	ENST00000356786.5	+	8	775	c.731C>T	c.(730-732)cCc>cTc	p.P244L	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'Flank	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	244						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCTGAGGCTCCCTCTAGGGCT	0.652																																						ENST00000356786.5																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(730-732)cCc>cTc		coiled-coil domain containing 88B							21.0	21.0	21.0					11																	64109521		2199	4297	6496	SO:0001583	missense	283234				microtubule cytoskeleton organization	cytoplasm	microtubule binding	g.chr11:64109521C>T	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.731C>T	11.37:g.64109521C>T	ENSP00000349238:p.Pro244Leu					CCDC88B_ENST00000463837.1_3'UTR	p.P244L	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN			8	775	+			244					A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	ENST00000356786.5	37	c.731C>T	CCDS8072.2	.	.	.	.	.	.	.	.	.	.	.	16.07	3.018853	0.54576	.	.	ENSG00000168071	ENST00000377638;ENST00000356786	T	0.50277	0.75	3.96	3.01	0.34805	.	.	.	.	.	T	0.36054	0.0953	L	0.31294	0.92	0.09310	N	0.999999	P;P	0.37914	0.611;0.611	B;B	0.37731	0.257;0.257	T	0.21690	-1.0238	9	0.72032	D	0.01	.	8.8269	0.35061	0.2245:0.7755:0.0:0.0	.	244;244	B2RTU8;A6NC98	.;CC88B_HUMAN	L	244	ENSP00000349238:P244L	ENSP00000349238:P244L	P	+	2	0	CCDC88B	63866097	0.000000	0.05858	0.019000	0.16419	0.106000	0.19336	0.510000	0.22723	0.993000	0.38866	0.437000	0.28790	CCC		0.652	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		5	34	0	0	0	1	0	5	34				
NACA	4666	broad.mit.edu	37	12	57111578	57111578	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr12:57111578C>T	ENST00000454682.1	-	3	4017	c.3736G>A	c.(3736-3738)Gca>Aca	p.A1246T	NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1246	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GGAGGAGTTGCAGCTGGGGTT	0.657			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(3736-3738)Gca>Aca		nascent polypeptide-associated complex alpha subunit							46.0	67.0	61.0					12																	57111578		1173	2767	3940	SO:0001583	missense	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57111578C>T	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.3736G>A	12.37:g.57111578C>T	ENSP00000403817:p.Ala1246Thr					NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron	p.A1246T	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	4017	-			0						Missense_Mutation	SNP	ENST00000454682.1	37	c.3736G>A		.	.	.	.	.	.	.	.	.	.	C	6.790	0.514755	0.12944	.	.	ENSG00000196531	ENST00000454682	T	0.45276	0.9	3.2	0.798	0.18660	.	.	.	.	.	T	0.24928	0.0605	.	.	.	0.09310	N	1	B	0.22604	0.072	B	0.16289	0.015	T	0.20371	-1.0277	7	.	.	.	.	8.1262	0.30999	0.1435:0.5342:0.3222:0.0	.	1246	E9PAV3	.	T	1246	ENSP00000403817:A1246T	.	A	-	1	0	NACA	55397845	0.000000	0.05858	0.007000	0.13788	0.007000	0.05969	-1.693000	0.01917	0.284000	0.22305	0.186000	0.17326	GCA		0.657	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		17	58	0	0	0	1	0	17	58				
UAP1	6675	broad.mit.edu	37	1	162557312	162557312	+	Silent	SNP	A	A	G			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr1:162557312A>G	ENST00000367925.1	+	5	914	c.882A>G	c.(880-882)cgA>cgG	p.R294R	UAP1_ENST00000367926.4_Silent_p.R294R|UAP1_ENST00000367924.1_Silent_p.R294R|UAP1_ENST00000271469.3_Silent_p.R294R			Q16222	UAP1_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1	294					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|UDP-N-acetylglucosamine diphosphorylase activity (GO:0003977)			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TGGTTTGCCGAGTGGATGGAG	0.458																																						ENST00000271469.3																			0				breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22						c.(880-882)cgA>cgG		UDP-N-acteylglucosamine pyrophosphorylase 1							116.0	120.0	118.0					1																	162557312		2203	4300	6503	SO:0001819	synonymous_variant	6675				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity	g.chr1:162557312A>G	AB011004	CCDS1240.1	1q23.2	2014-07-31	2014-07-31		ENSG00000117143	ENSG00000117143	2.7.7.23		12457	protein-coding gene	gene with protein product		602862		SPAG2		9603950, 8025165	Standard	NM_003115		Approved	AGX1, AgX	uc001gce.4	Q16222	OTTHUMG00000034419	ENST00000367925.1:c.882A>G	1.37:g.162557312A>G						UAP1_ENST00000367925.1_Silent_p.R294R|UAP1_ENST00000367924.1_Silent_p.R294R|UAP1_ENST00000367926.4_Silent_p.R294R	p.R294R			Q16222	UAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.126)		6	1184	+	all_hematologic(112;0.115)		294					B2R6R8|Q5VTA9|Q5VTB0|Q5VTB1|Q96GM2	Silent	SNP	ENST00000367925.1	37	c.882A>G																																																																																					0.458	UAP1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000083203.1	NM_003115		42	74	0	0	0	1	0	42	74				
ACSL3	2181	broad.mit.edu	37	2	223791815	223791815	+	Missense_Mutation	SNP	C	C	A	rs143664156		TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr2:223791815C>A	ENST00000357430.3	+	12	1904	c.1373C>A	c.(1372-1374)aCc>aAc	p.T458N	ACSL3_ENST00000392066.3_Missense_Mutation_p.T458N	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	458					brain development (GO:0007420)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty acid import (GO:0044539)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)|positive regulation of phosphatidylcholine biosynthetic process (GO:2001247)|positive regulation of secretion (GO:0051047)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	CTTTCTGCAACCACGCAGCGA	0.473			T	ETV1	prostate																																	ENST00000357430.3				Dom	yes		2	2q36	2181	T	acyl-CoA synthetase long-chain family member 3			E	ETV1		prostate		0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22						c.(1372-1374)aCc>aAc		acyl-CoA synthetase long-chain family member 3	Icosapent(DB00159)						130.0	121.0	124.0					2																	223791815		2203	4300	6503	SO:0001583	missense	2181				long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding	g.chr2:223791815C>A	D89053	CCDS2455.1	2q34-q35	2008-02-05	2004-02-19	2004-02-20	ENSG00000123983	ENSG00000123983		"""Acyl-CoA synthetase family"""	3570	protein-coding gene	gene with protein product		602371	"""fatty-acid-Coenzyme A ligase, long-chain 3"""	FACL3			Standard	NM_004457		Approved	ACS3, PRO2194	uc002vnj.3	O95573	OTTHUMG00000133160	ENST00000357430.3:c.1373C>A	2.37:g.223791815C>A	ENSP00000350012:p.Thr458Asn					ACSL3_ENST00000392066.3_Missense_Mutation_p.T458N	p.T458N	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	12	1904	+		Renal(207;0.0183)	458					Q60I92|Q8IUM9	Missense_Mutation	SNP	ENST00000357430.3	37	c.1373C>A	CCDS2455.1	.	.	.	.	.	.	.	.	.	.	C	19.55	3.848505	0.71603	.	.	ENSG00000123983	ENST00000357430;ENST00000392066	T;T	0.10382	2.88;2.88	5.88	5.88	0.94601	AMP-dependent synthetase/ligase (1);	0.105346	0.64402	D	0.000002	T	0.11024	0.0269	N	0.20357	0.565	0.40835	D	0.983622	B	0.27264	0.173	B	0.32022	0.139	T	0.26677	-1.0096	10	0.32370	T	0.25	-7.0176	20.2314	0.98350	0.0:1.0:0.0:0.0	.	458	O95573	ACSL3_HUMAN	N	458	ENSP00000350012:T458N;ENSP00000375918:T458N	ENSP00000350012:T458N	T	+	2	0	ACSL3	223500059	0.988000	0.35896	1.000000	0.80357	0.952000	0.60782	3.984000	0.56923	2.789000	0.95967	0.591000	0.81541	ACC		0.473	ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256862.2	NM_004457		5	39	1	0	0.000602214	1	0.000616219	5	39				
ASXL1	171023	broad.mit.edu	37	20	31019454	31019454	+	Silent	SNP	T	T	C			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr20:31019454T>C	ENST00000375687.4	+	10	1375	c.951T>C	c.(949-951)gcT>gcC	p.A317A	ASXL1_ENST00000306058.5_Silent_p.A312A	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	317	Interaction with KDM1A. {ECO:0000250}.|Interaction with NCOA1. {ECO:0000250}.				bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CCCATGCGGCTCAGAGCTGGC	0.532			"""F, N, Mis"""		"""MDS, CMML"""																																	ENST00000375687.4				Rec	yes		20	20q11.1	171023	"""F, N, Mis"""	additional sex combs like 1			L			"""MDS, CMML"""		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						c.(949-951)gcT>gcC		additional sex combs like 1 (Drosophila)							57.0	58.0	58.0					20																	31019454		2203	4300	6503	SO:0001819	synonymous_variant	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31019454T>C	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.951T>C	20.37:g.31019454T>C						ASXL1_ENST00000306058.5_Silent_p.A312A	p.A317A	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN			10	1375	+			317					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Silent	SNP	ENST00000375687.4	37	c.951T>C	CCDS13201.1																																																																																				0.532	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		10	23	0	0	0	1	0	10	23				
CSMD2	114784	broad.mit.edu	37	1	34068082	34068082	+	Silent	SNP	C	C	T			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr1:34068082C>T	ENST00000373380.1	-	22	3436	c.3216G>A	c.(3214-3216)ccG>ccA	p.P1072P	CSMD2_ENST00000373377.1_Silent_p.P298P|CSMD2_ENST00000373381.4_Silent_p.P2199P|CSMD2_ENST00000373388.2_Silent_p.P298P|CSMD2_ENST00000489419.1_5'Flank			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2201	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.					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)				AGCTGGAGTACGGGCTAGGGA	0.612																																						ENST00000373381.4																			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.(6595-6597)ccG>ccA		CUB and Sushi multiple domains 2							67.0	63.0	65.0					1																	34068082		2203	4300	6503	SO:0001819	synonymous_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34068082C>T	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	ENST00000373380.1:c.3216G>A	1.37:g.34068082C>T						CSMD2_ENST00000373377.1_Silent_p.P298P|CSMD2_ENST00000373380.1_Silent_p.P1072P|CSMD2_ENST00000373388.2_Silent_p.P298P	p.P2199P	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			43	6773	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	2201			CUB 13.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373380.1	37	c.6597G>A																																																																																					0.612	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		8	31	0	0	0	1	0	8	31				
SEC22B	9554	broad.mit.edu	37	1	145109975	145109976	+	RNA	INS	-	-	C	rs376446977|rs11458983		TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr1:145109975_145109976insC	ENST00000453618.1	+	0	673							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											CAGGAACTTTGCTAAAGATCTA	0.386																																						ENST00000453618.1																			0													SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)																																						9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145109975_145109976insC	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145109976_145109976dupC										O75396	SC22B_HUMAN			0	673	+								A8K1G0	RNA	INS	ENST00000453618.1	37																																																																																						0.386	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		3	3						3	3	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	215807838	215807838	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr1:215807838G>A	ENST00000307340.3	-	70	15646	c.15260C>T	c.(15259-15261)tCt>tTt	p.S5087F	USH2A_ENST00000366943.2_Missense_Mutation_p.S5087F	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	5087					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATTCAATGGAGACATCCTCTT	0.428										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(15259-15261)tCt>tTt		Usher syndrome 2A (autosomal recessive, mild)							109.0	109.0	109.0					1																	215807838		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215807838G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.15260C>T	1.37:g.215807838G>A	ENSP00000305941:p.Ser5087Phe	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.S5087F	p.S5087F			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	70	15646	-			5087					Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.15260C>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.185828	0.78789	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.16457	2.34;2.48	5.74	5.74	0.90152	.	0.369326	0.19433	N	0.114376	T	0.37073	0.0990	L	0.56769	1.78	0.34968	D	0.75289	D	0.57899	0.981	P	0.57371	0.819	T	0.35968	-0.9767	10	0.62326	D	0.03	.	19.9015	0.96985	0.0:0.0:1.0:0.0	.	5087	O75445	USH2A_HUMAN	F	5087	ENSP00000305941:S5087F;ENSP00000355910:S5087F	ENSP00000305941:S5087F	S	-	2	0	USH2A	213874461	1.000000	0.71417	0.085000	0.20634	0.612000	0.37316	5.791000	0.69045	2.704000	0.92352	0.655000	0.94253	TCT		0.428	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		16	56	0	0	0	1	0	16	56				
OR2T35	403244	broad.mit.edu	37	1	248801602	248801603	+	Frame_Shift_Ins	INS	-	-	CA	rs370874670|rs375058001		TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr1:248801602_248801603insCA	ENST00000317450.3	-	1	956_957	c.957_958insTG	c.(955-960)gtgatcfs	p.I320fs		NM_001001827.1	NP_001001827.1	Q8NGX2	O2T35_HUMAN	olfactory receptor, family 2, subfamily T, member 35	320						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I320fs*1(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	6	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCCTTCCTGATCACAGTCGCCA	0.545																																						ENST00000317450.3																			1	Insertion - Frameshift(1)	p.I320fs*1(1)	prostate(1)	endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	6						c.(955-960)gttcagfs		olfactory receptor, family 2, subfamily T, member 35																																				SO:0001589	frameshift_variant	403244				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248801602_248801603insCA	BK004475	CCDS31123.1	1q44	2012-08-09			ENSG00000177151	ENSG00000177151		"""GPCR / Class A : Olfactory receptors"""	31257	protein-coding gene	gene with protein product							Standard	NM_001001827		Approved		uc001ies.1	Q8NGX2	OTTHUMG00000040380	ENST00000317450.3:c.956_957dupTG	1.37:g.248801605_248801606dupCA	ENSP00000324369:p.Ile320fs						p.Q320fs	NM_001001827.1	NP_001001827.1	Q8NGX2	O2T35_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	956_957	-	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	320					Q6IEY7	Frame_Shift_Ins	INS	ENST00000317450.3	37	c.957_958insTG	CCDS31123.1																																																																																				0.545	OR2T35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097130.1	NM_001001827		6	2						6	2	---	---	---	---
STAG3L1	54441	broad.mit.edu	37	7	74991538	74991539	+	RNA	DEL	TC	TC	-	rs375690101		TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr7:74991538_74991539delTC	ENST00000402225.5	+	0	434							P0CL83	ST3L1_HUMAN	stromal antigen 3-like 1 (pseudogene)							nucleus (GO:0005634)											GAGAGCATGttctttttttttt	0.416																																						ENST00000402225.5																			0																																																			54441					nucleus	binding	g.chr7:74991538_74991539delTC			7q11.23	2013-06-26	2013-06-26		ENSG00000205583	ENSG00000205583			33852	pseudogene	pseudogene			"""stromal antigen 3-like 1"""				Standard	NR_040583		Approved	DKFZP434A0131, STAG3L1P	uc022agf.1	P0CL83	OTTHUMG00000155940		7.37:g.74991538_74991539delTC										P0CL83	ST3L1_HUMAN			0	434	+								A6NMT8|A8K0A1|Q32NE4|Q6NXR2|Q7L5M5|Q7Z5K6	RNA	DEL	ENST00000402225.5	37																																																																																						0.416	STAG3L1-012	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000437242.1	NM_001002840		2	4						2	4	---	---	---	---
SNX29P2	440352	broad.mit.edu	37	16	29372348	29372348	+	RNA	DEL	T	T	-	rs368280985		TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr16:29372348delT	ENST00000507381.1	+	0	497				SNX29P2_ENST00000398878.3_lincRNA			Q8IUI4	S29P2_HUMAN	sorting nexin 29 pseudogene 2																		TGGGAGGttgttttttttttt	0.478																																						ENST00000398878.3																			0																																																			440352							g.chr16:29372348delT	BX648280		16p11.2	2014-03-21	2011-08-16	2011-08-16	ENSG00000198106	ENSG00000198106			31914	pseudogene	pseudogene			"""RUN domain containing 2C"""	RUNDC2C			Standard	NR_002939		Approved		uc021tfw.1	Q8IUI4			16.37:g.29372348delT						SNX29P2_ENST00000507381.1_RNA								0	1186	+									RNA	DEL	ENST00000507381.1	37																																																																																						0.478	SNX29P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361855.1	NR_002939		4	5						4	5	---	---	---	---
HCRT	3060	broad.mit.edu	37	17	40336501	40336503	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr17:40336501_40336503delGCA	ENST00000293330.1	-	2	151_153	c.65_67delTGC	c.(64-69)ctgccg>ccg	p.L22del		NM_001524.1	NP_001515.1	O43612	OREX_HUMAN	hypocretin (orexin) neuropeptide precursor	22					eating behavior (GO:0042755)|negative regulation of DNA replication (GO:0008156)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of transmission of nerve impulse (GO:0051970)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of transmission of nerve impulse (GO:0051971)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)		p.L22delL(1)		breast(1)|central_nervous_system(1)	2		all_cancers(22;1.39e-06)|all_epithelial(22;9.98e-06)|Breast(137;0.000143)|Ovarian(249;0.0221)|Myeloproliferative disorder(1115;0.0255)|Colorectal(1115;0.069)		BRCA - Breast invasive adenocarcinoma(366;0.124)		AGCGCGGgcggcagcagcagcag	0.704																																						ENST00000293330.1																			1	Deletion - In frame(1)	p.L22delL(1)	central_nervous_system(1)	breast(1)|central_nervous_system(1)	2						c.(64-69)ccg>c		hypocretin (orexin) neuropeptide precursor																																				SO:0001651	inframe_deletion	3060				neuropeptide signaling pathway	cell junction|extracellular region|rough endoplasmic reticulum|synaptic vesicle		g.chr17:40336501_40336503delGCA	AF041240	CCDS11421.1	17q21	2013-02-28				ENSG00000161610		"""Endogenous ligands"""	4847	protein-coding gene	gene with protein product	"""prepro-orexin"""	602358				9419374, 9491897	Standard	NM_001524		Approved	PPOX, OX	uc002hzc.1	O43612		ENST00000293330.1:c.65_67delTGC	17.37:g.40336510_40336512delGCA	ENSP00000293330:p.Leu22del						p.LP22del	NM_001524.1	NP_001515.1	O43612	OREX_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.124)	2	151_153	-		all_cancers(22;1.39e-06)|all_epithelial(22;9.98e-06)|Breast(137;0.000143)|Ovarian(249;0.0221)|Myeloproliferative disorder(1115;0.0255)|Colorectal(1115;0.069)	22						In_Frame_Del	DEL	ENST00000293330.1	37	c.65_67delTGC	CCDS11421.1																																																																																				0.704	HCRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449792.1	NM_001524		3	5						3	5	---	---	---	---
CYP4F8	11283	broad.mit.edu	37	19	15730745	15730747	+	RNA	DEL	TAA	TAA	-	rs58809247|rs4019754|rs1534812	byFrequency	TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr19:15730745_15730747delTAA	ENST00000441682.2	+	0	586							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						icosanoid metabolic process (GO:0006690)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alkane 1-monooxygenase activity (GO:0018685)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						taggagcatgtaatggactcatg	0.468														1961	0.391573	0.4024	0.3415	5008	,	,		21468	0.253		0.5388	False		,,,				2504	0.4039					ENST00000441682.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26								cytochrome P450, family 4, subfamily F, polypeptide 8																																						11283				prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr19:15730745_15730747delTAA	AF133298	CCDS74303.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186526	ENSG00000186526		"""Cytochrome P450s"""	2648	protein-coding gene	gene with protein product		611545	"""cytochrome P450, subfamily IVF, polypeptide 8"""			10405341	Standard	NM_007253		Approved		uc002nbi.3	P98187	OTTHUMG00000182386		19.37:g.15730745_15730747delTAA										P98187	CP4F8_HUMAN			0	586	+									RNA	DEL	ENST00000441682.2	37																																																																																						0.468	CYP4F8-201	KNOWN	basic	processed_transcript	processed_transcript		NM_007253		4	2						4	2	---	---	---	---
KRTAP10-6	386674	broad.mit.edu	37	21	46012219	46012220	+	In_Frame_Ins	INS	-	-	GGGGCGCAGCAGCTG	rs374776064|rs587611810|rs71199613	byFrequency	TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr21:46012219_46012220insGGGGCGCAGCAGCTG	ENST00000400368.1	-	1	166_167	c.146_147insCAGCTGCTGCGCCCC	c.(145-147)ccg>ccCAGCTGCTGCGCCCCg	p.49_49P>PSCCAP	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	49	29 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						GGCAGGGGGCCGGGGCGCAGCA	0.688														1042	0.208067	0.1188	0.2522	5008	,	,		15055	0.1379		0.3231	False		,,,				2504	0.2515					ENST00000400368.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						c.(145-147)cgc>cCAGCTGCTGCGCCCCgc		keratin associated protein 10-6																																				SO:0001652	inframe_insertion	386674					keratin filament		g.chr21:46012219_46012220insGGGGCGCAGCAGCTG	AB076353	CCDS42959.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000188155	ENSG00000188155		"""Keratin associated proteins"""	20523	protein-coding gene	gene with protein product			"""keratin associated protein 18-6"""	KRTAP18-6			Standard	NM_198688		Approved	KRTAP18.6, KAP18.6, KAP10.6	uc002zfm.3	P60371	OTTHUMG00000057634	ENST00000400368.1:c.146_147insCAGCTGCTGCGCCCC	21.37:g.46012219_46012220insGGGGCGCAGCAGCTG	Exception_encountered					TSPEAR_ENST00000323084.4_Intron	p.48_49insPAAAP	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN			1	166_167	-			48			29 X 5 AA repeats of C-C-X(3).			In_Frame_Ins	INS	ENST00000400368.1	37	c.146_147insCAGCTGCTGCGCCCC	CCDS42959.1																																																																																				0.688	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128037.1	NM_198688		7	49						7	49	---	---	---	---
CRYBB2P1	1416	broad.mit.edu	37	22	25855682	25855683	+	RNA	INS	-	-	GTGT	rs61433517|rs71322752		TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr22:25855682_25855683insGTGT	ENST00000609084.1	+	0	0									crystallin, beta B2 pseudogene 1																		CCTGGCAGCTGgtgtgtgtgtg	0.53																																						ENST00000354451.2																			0																																																			1416							g.chr22:25855682_25855683insGTGT	M18441		22q11.2-q12.1	2012-02-29			ENSG00000100058	ENSG00000100058			2399	pseudogene	pseudogene				CRYB2B			Standard	NR_033733		Approved		uc003abu.4		OTTHUMG00000150874		22.37:g.25855687_25855690dupGTGT														0	366	+									RNA	INS	ENST00000609084.1	37																																																																																						0.530	CRYBB2P1-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000472347.1			3	2						3	2	---	---	---	---
LINC01399	104310353	broad.mit.edu	37	22	35560569	35560570	+	lincRNA	INS	-	-	TTGTTG	rs397963779|rs59047562|rs147993226	byFrequency	TCGA-MT-A51X-01A-11D-A25Y-08	TCGA-MT-A51X-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbea37fc-c1f9-479f-900a-f0e6bbd63867	4bac5ef3-34dc-401d-a16d-33d5e6d8730f	g.chr22:35560569_35560570insTTGTTG	ENST00000423311.1	-	0	512																											tcatctaggttttgttgttgtt	0.465														931	0.185903	0.0469	0.1095	5008	,	,		23324	0.4454		0.1193	False		,,,				2504	0.229					ENST00000423311.1																			0																																																			104310353							g.chr22:35560569_35560570insTTGTTG																													22.37:g.35560570_35560575dupTTGTTG														0	512	-									RNA	INS	ENST00000423311.1	37																																																																																						0.465	CTA-714B7.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000320640.1			4	5						4	5	---	---	---	---
