#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
TP53	7157	broad.mit.edu	37	17	7577144	7577144	+	Missense_Mutation	SNP	A	A	C			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr17:7577144A>C	ENST00000269305.4	-	8	983	c.794T>G	c.(793-795)cTg>cGg	p.L265R	TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.L265R|TP53_ENST00000445888.2_Missense_Mutation_p.L265R|TP53_ENST00000359597.4_Missense_Mutation_p.L265R|TP53_ENST00000455263.2_Missense_Mutation_p.L265R	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	265	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		L -> M (in sporadic cancers; somatic mutation).|L -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|L -> Q (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.L265P(15)|p.0?(8)|p.L265R(5)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G262_S269delGNLLGRNS(2)|p.N263fs*5(1)|p.L265del(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.L265Q(1)|p.G262fs*2(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTTCCGTCCCAGTAGATTACC	0.522		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		42	Substitution - Missense(21)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(3)|Deletion - Frameshift(3)	p.L265P(15)|p.0?(8)|p.L265R(5)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G262_S269delGNLLGRNS(2)|p.N263fs*5(1)|p.L265del(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.L265Q(1)|p.G262fs*2(1)	large_intestine(6)|lung(5)|oesophagus(5)|breast(4)|bone(4)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(3)|ovary(3)|upper_aerodigestive_tract(2)|stomach(2)|urinary_tract(2)|small_intestine(1)|skin(1)|eye(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CD004355|CM971505	TP53	D|M		c.(793-795)cTg>cGg	Other conserved DNA damage response genes	tumor protein p53							46.0	41.0	43.0					17																	7577144		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577144A>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.794T>G	17.37:g.7577144A>C	ENSP00000269305:p.Leu265Arg	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000455263.2_Missense_Mutation_p.L265R|TP53_ENST00000269305.4_Missense_Mutation_p.L265R|TP53_ENST00000359597.4_Missense_Mutation_p.L265R|TP53_ENST00000445888.2_Missense_Mutation_p.L265R|TP53_ENST00000413465.2_Intron	p.L265R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	926	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	265		L -> M (in sporadic cancers; somatic mutation).|L -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|L -> Q (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.794T>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	19.55	3.848055	0.71603	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99876	-7.41;-7.41;-7.41;-7.41;-7.41;-7.41	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.64402	D	0.000001	D	0.99871	0.9939	M	0.91920	3.255	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.997;1.0;1.0	D	0.96405	0.9300	10	0.87932	D	0	-15.8832	12.9367	0.58319	1.0:0.0:0.0:0.0	.	265;265;265;265	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	R	265;265;265;265;265;254;133	ENSP00000352610:L265R;ENSP00000269305:L265R;ENSP00000398846:L265R;ENSP00000391127:L265R;ENSP00000391478:L265R;ENSP00000425104:L133R	ENSP00000269305:L265R	L	-	2	0	TP53	7517869	1.000000	0.71417	0.999000	0.59377	0.528000	0.34623	9.060000	0.93907	2.154000	0.67381	0.379000	0.24179	CTG		0.522	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		15	36	0	0	0	1	0	15	36				
VMP1	81671	broad.mit.edu	37	17	57851219	57851219	+	Missense_Mutation	SNP	G	G	T			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr17:57851219G>T	ENST00000262291.4	+	7	997	c.687G>T	c.(685-687)gaG>gaT	p.E229D	VMP1_ENST00000537567.1_Missense_Mutation_p.E95D|VMP1_ENST00000536180.1_Missense_Mutation_p.E132D|VMP1_ENST00000539763.1_Missense_Mutation_p.E37D|VMP1_ENST00000545362.1_Missense_Mutation_p.E173D	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN	vacuole membrane protein 1	229					autophagy (GO:0006914)|cell junction assembly (GO:0034329)|embryo implantation (GO:0007566)|regulation of autophagy (GO:0010506)|single organismal cell-cell adhesion (GO:0016337)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|pre-autophagosomal structure (GO:0000407)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						AATTTGAAGAGATGCTGGAAC	0.438																																						ENST00000262291.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						c.(685-687)gaG>gaT		vacuole membrane protein 1							85.0	81.0	82.0					17																	57851219		2203	4300	6503	SO:0001583	missense	81671				autophagy|cell adhesion	endoplasmic reticulum|ER-Golgi intermediate compartment membrane|integral to membrane|plasma membrane|vacuolar membrane		g.chr17:57851219G>T		CCDS11619.1	17q23.1	2014-05-20	2011-03-02	2011-03-02	ENSG00000062716	ENSG00000062716			29559	protein-coding gene	gene with protein product	"""ectopic P-granules autophagy protein 3 homolog (C. elegans)"", ""transport and golgi organization 5 homolog (Drosophila)"""	611753	"""transmembrane protein 49"""	TMEM49		11230166, 11785947	Standard	NM_030938		Approved	EPG3, TANGO5	uc002ixu.4	Q96GC9	OTTHUMG00000179882	ENST00000262291.4:c.687G>T	17.37:g.57851219G>T	ENSP00000262291:p.Glu229Asp					VMP1_ENST00000537567.1_Missense_Mutation_p.E95D|VMP1_ENST00000539763.1_Missense_Mutation_p.E37D|VMP1_ENST00000536180.1_Missense_Mutation_p.E132D|VMP1_ENST00000545362.1_Missense_Mutation_p.E173D	p.E229D	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN			7	997	+			229					B4DVV9|Q9H0P4|Q9P089	Missense_Mutation	SNP	ENST00000262291.4	37	c.687G>T	CCDS11619.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.999389	0.54147	.	.	ENSG00000062716	ENST00000262291;ENST00000537567;ENST00000539763;ENST00000536180;ENST00000545362	T;T;T	0.42513	0.97;0.97;0.97	6.04	1.74	0.24563	.	0.000000	0.85682	D	0.000000	T	0.40694	0.1127	M	0.72624	2.21	0.80722	D	1	B;B;P;B	0.38729	0.054;0.099;0.644;0.197	B;B;B;B	0.44044	0.106;0.067;0.439;0.134	T	0.13361	-1.0512	10	0.20046	T	0.44	-4.7969	5.0213	0.14363	0.2889:0.0:0.5775:0.1336	.	95;132;173;229	B4DED7;B4DGZ7;F5H2J3;Q96GC9	.;.;.;VMP1_HUMAN	D	229;95;37;132;173	ENSP00000262291:E229D;ENSP00000445130:E95D;ENSP00000444969:E132D	ENSP00000262291:E229D	E	+	3	2	VMP1	55206001	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	1.452000	0.35156	0.102000	0.17638	0.563000	0.77884	GAG		0.438	VMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448793.1	NM_030938		13	96	1	0	9.31168e-06	1	1.12288e-05	13	96				
SPIRE1	56907	broad.mit.edu	37	18	12493109	12493109	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr18:12493109C>T	ENST00000409402.4	-	8	1418	c.1151G>A	c.(1150-1152)cGg>cAg	p.R384Q	SPIRE1_ENST00000453447.2_Missense_Mutation_p.R264Q|SPIRE1_ENST00000464481.1_5'UTR|SPIRE1_ENST00000410092.3_Missense_Mutation_p.R384Q|SPIRE1_ENST00000383356.2_Missense_Mutation_p.R225Q|SPIRE1_ENST00000309836.5_Missense_Mutation_p.R187Q	NM_001128626.1	NP_001122098.1			spire-type actin nucleation factor 1											breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						TGATACAGGCCGCAGCTTTCT	0.458																																						ENST00000409402.4																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						c.(1150-1152)cGg>cAg		spire-type actin nucleation factor 1							113.0	104.0	107.0					18																	12493109		2203	4300	6503	SO:0001583	missense	56907					cytoskeleton|perinuclear region of cytoplasm	actin binding	g.chr18:12493109C>T	AL833817	CCDS32790.2, CCDS45829.1, CCDS45830.1	18p11.21	2013-08-27	2013-08-27		ENSG00000134278	ENSG00000134278			30622	protein-coding gene	gene with protein product		609216	"""spire homolog 1 (Drosophila)"", ""spire family actin nucleation factor 1"""			10574461, 11747823	Standard	NM_001128626		Approved	spir-1, KIAA1135	uc002kre.3	Q08AE8	OTTHUMG00000153940	ENST00000409402.4:c.1151G>A	18.37:g.12493109C>T	ENSP00000387266:p.Arg384Gln					SPIRE1_ENST00000383356.2_Missense_Mutation_p.R225Q|SPIRE1_ENST00000453447.2_Missense_Mutation_p.R264Q|SPIRE1_ENST00000410092.3_Missense_Mutation_p.R384Q|SPIRE1_ENST00000309836.5_Missense_Mutation_p.R187Q|SPIRE1_ENST00000464481.1_5'UTR	p.R384Q	NM_001128626.1	NP_001122098.1	Q08AE8	SPIR1_HUMAN			8	1418	-			384			WH2 2.			Missense_Mutation	SNP	ENST00000409402.4	37	c.1151G>A	CCDS45829.1	.	.	.	.	.	.	.	.	.	.	C	36	5.875821	0.97055	.	.	ENSG00000134278	ENST00000453447;ENST00000409402;ENST00000410092;ENST00000309836;ENST00000383356	T;T;T;T;T	0.57752	0.42;0.86;0.92;0.47;0.38	5.22	5.22	0.72569	.	0.156254	0.53938	D	0.000049	T	0.65606	0.2707	M	0.70275	2.135	0.58432	D	0.999999	D;P;D	0.58970	0.984;0.864;0.981	B;P;P	0.51833	0.427;0.681;0.505	T	0.70425	-0.4875	10	0.72032	D	0.01	-8.4915	19.2222	0.93801	0.0:1.0:0.0:0.0	.	384;187;384	Q08AE8-2;B4DWX0;Q08AE8	.;.;SPIR1_HUMAN	Q	264;384;384;187;225	ENSP00000407050:R264Q;ENSP00000387266:R384Q;ENSP00000387226:R384Q;ENSP00000309661:R187Q;ENSP00000372847:R225Q	ENSP00000309661:R187Q	R	-	2	0	SPIRE1	12483109	1.000000	0.71417	0.992000	0.48379	0.945000	0.59286	7.107000	0.77047	2.606000	0.88127	0.644000	0.83932	CGG		0.458	SPIRE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333109.2	XM_290818		13	99	0	0	0	1	0	13	99				
BRF1	2972	broad.mit.edu	37	14	105752650	105752650	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr14:105752650G>A	ENST00000546474.1	-	2	15207	c.248C>T	c.(247-249)gCg>gTg	p.A83V	BRF1_ENST00000379937.2_Intron|BRF1_ENST00000327359.3_5'UTR|BRF1_ENST00000548421.1_Missense_Mutation_p.A83V|BRF1_ENST00000440513.3_5'UTR	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	83					gene expression (GO:0010467)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|tRNA transcription (GO:0009304)	nucleoplasm (GO:0005654)|transcription factor TFIIIB complex (GO:0000126)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		CAGGGTCTGCGCTCTCGACTC	0.587																																						ENST00000546474.1																			0				NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24						c.(247-249)gCg>gTg		BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit							55.0	49.0	51.0					14																	105752650		2203	4300	6503	SO:0001583	missense	2972				positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding	g.chr14:105752650G>A	U28838	CCDS10001.1, CCDS42001.1, CCDS55949.1, CCDS55950.1, CCDS55951.1, CCDS55952.1, CCDS55953.1	14q32.33	2014-04-02	2013-05-29	2001-12-07	ENSG00000185024	ENSG00000185024		"""General transcription factors"""	11551	protein-coding gene	gene with protein product		604902	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 2"", ""BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae)"""	TAF3B2, TAF3C, GTF3B		7624363, 8943358	Standard	NM_145685		Approved	TFIIIB90, BRF, hBRF	uc001yqp.2	Q92994	OTTHUMG00000029884	ENST00000546474.1:c.248C>T	14.37:g.105752650G>A	ENSP00000448323:p.Ala83Val					BRF1_ENST00000548421.1_Missense_Mutation_p.A83V|BRF1_ENST00000440513.3_5'UTR|BRF1_ENST00000327359.3_5'UTR|BRF1_ENST00000379937.2_Intron	p.A83V	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)	2	15207	-		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	83					B3KU36|B4DIG5|B7Z2N3|F5H5Z7|F8WA46|Q13223|Q3SYD9|Q5PR24|Q6IQ02|Q96KX3|Q9HCW6|Q9HCW7|Q9HCW8	Missense_Mutation	SNP	ENST00000546474.1	37	c.248C>T	CCDS10001.1	.	.	.	.	.	.	.	.	.	.	G	5.308	0.242245	0.10077	.	.	ENSG00000185024	ENST00000546474;ENST00000548421;ENST00000345053	.	.	.	4.22	4.22	0.49857	Cyclin-like (1);	0.000000	0.85682	D	0.000000	T	0.56217	0.1970	M	0.72894	2.215	0.80722	D	1	P;P	0.52463	0.796;0.953	B;B	0.41988	0.09;0.372	T	0.64829	-0.6315	9	0.62326	D	0.03	.	11.9652	0.53031	0.0:0.0:1.0:0.0	.	83;83	Q96KX3;Q92994	.;TF3B_HUMAN	V	83	.	ENSP00000339442:A83V	A	-	2	0	BRF1	104823695	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	4.254000	0.58798	2.163000	0.67991	0.563000	0.77884	GCG		0.587	BRF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074548.4	NM_001519		3	34	0	0	0	1	0	3	34				
BPNT1	10380	broad.mit.edu	37	1	220240686	220240686	+	Silent	SNP	T	T	C			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr1:220240686T>C	ENST00000469520.2	-	7	881	c.432A>G	c.(430-432)aaA>aaG	p.K144K	BPNT1_ENST00000414869.2_Silent_p.K108K|BPNT1_ENST00000482136.1_5'UTR|BPNT1_ENST00000322067.7_Silent_p.K144K|BPNT1_ENST00000354807.3_Silent_p.K144K|BPNT1_ENST00000544404.1_Silent_p.K89K			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	144					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|dephosphorylation (GO:0016311)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|phosphatidylinositol phosphorylation (GO:0046854)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3'(2'),5'-bisphosphate nucleotidase activity (GO:0008441)|inositol-1,4-bisphosphate 1-phosphatase activity (GO:0004441)|magnesium ion binding (GO:0000287)			breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		CTGCTATGGCTTTTCCTTCAT	0.289																																						ENST00000469520.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14						c.(430-432)aaA>aaG		3'(2'), 5'-bisphosphate nucleotidase 1							77.0	73.0	74.0					1																	220240686		1803	4066	5869	SO:0001819	synonymous_variant	10380				3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity	g.chr1:220240686T>C	AF125042	CCDS41469.1, CCDS65787.1, CCDS65788.1	1q42	2008-02-05			ENSG00000162813	ENSG00000162813	3.1.3.7		1096	protein-coding gene	gene with protein product		604053				10224133	Standard	XM_005272998		Approved		uc001hma.3	O95861	OTTHUMG00000037435	ENST00000469520.2:c.432A>G	1.37:g.220240686T>C						BPNT1_ENST00000354807.3_Silent_p.K144K|BPNT1_ENST00000482136.1_5'UTR|BPNT1_ENST00000414869.2_Silent_p.K108K|BPNT1_ENST00000322067.7_Silent_p.K144K|BPNT1_ENST00000544404.1_Silent_p.K89K	p.K144K			O95861	BPNT1_HUMAN		GBM - Glioblastoma multiforme(131;0.0558)	7	881	-			144					A8K7C8|B4DPS5|B4DUS9|D3DTA9|Q8WVL5|Q9UGJ3	Silent	SNP	ENST00000469520.2	37	c.432A>G	CCDS41469.1																																																																																				0.289	BPNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091137.2	NM_006085		3	112	0	0	0	1	0	3	112				
DIAPH2	1730	broad.mit.edu	37	X	96639008	96639008	+	Missense_Mutation	SNP	A	A	T			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chrX:96639008A>T	ENST00000324765.8	+	25	3457	c.3110A>T	c.(3109-3111)cAg>cTg	p.Q1037L	DIAPH2_ENST00000355827.4_Missense_Mutation_p.Q1037L|DIAPH2_ENST00000373061.3_Missense_Mutation_p.Q1037L|DIAPH2_ENST00000373049.4_Missense_Mutation_p.Q1037L|DIAPH2_ENST00000373054.4_Missense_Mutation_p.Q1033L			O60879	DIAP2_HUMAN	diaphanous-related formin 2	1037					actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						TTAGAACGCCAGAAGAAAAAG	0.313																																						ENST00000324765.8																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						c.(3109-3111)cAg>cTg		diaphanous-related formin 2							61.0	54.0	56.0					X																	96639008		2203	4299	6502	SO:0001583	missense	1730				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding	g.chrX:96639008A>T	Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"""diaphanous (Drosophila, homolog) 2"", ""diaphanous homolog 2 (Drosophila)"""			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.3110A>T	X.37:g.96639008A>T	ENSP00000321348:p.Gln1037Leu					DIAPH2_ENST00000355827.4_Missense_Mutation_p.Q1037L|DIAPH2_ENST00000373049.4_Missense_Mutation_p.Q1037L|DIAPH2_ENST00000373061.3_Missense_Mutation_p.Q1037L|DIAPH2_ENST00000373054.4_Missense_Mutation_p.Q1033L	p.Q1037L			O60879	DIAP2_HUMAN			25	3457	+			1037					A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	ENST00000324765.8	37	c.3110A>T	CCDS14467.1	.	.	.	.	.	.	.	.	.	.	A	18.80	3.700002	0.68501	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	D;D;D;D;D	0.82255	-1.59;-1.58;-1.52;-1.53;-1.59	4.52	4.52	0.55395	Actin-binding FH2/DRF autoregulatory (1);	0.000000	0.64402	D	0.000001	D	0.89125	0.6626	M	0.65975	2.015	0.50039	D	0.999844	D;D	0.61697	0.971;0.99	D;D	0.75020	0.932;0.985	D	0.89708	0.3910	10	0.56958	D	0.05	.	13.2344	0.59961	1.0:0.0:0.0:0.0	.	1037;1037	O60879;O60879-2	DIAP2_HUMAN;.	L	1037;1033;1037;1037;1037;1044	ENSP00000362152:Q1037L;ENSP00000362145:Q1033L;ENSP00000348082:Q1037L;ENSP00000362140:Q1037L;ENSP00000321348:Q1037L	ENSP00000321348:Q1037L	Q	+	2	0	DIAPH2	96525664	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.231000	0.78106	1.765000	0.52091	0.441000	0.28932	CAG		0.313	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	NM_006729, NM_007309		4	51	0	0	0	1	0	4	51				
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C	rs372167638		TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1				zinc finger protein 733, pseudogene																		CTTATGTCTAGTAAGGTTTGA	0.438																																						ENST00000331425.6																			0																																																			0							g.chr7:62752443G>C			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752443G>C								NR_003952.1						0	992	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.438	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			4	55	0	0	0	1	0	4	55				
EXOC3L1	283849	broad.mit.edu	37	16	67222689	67222689	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr16:67222689C>A	ENST00000314586.6	-	4	602	c.362G>T	c.(361-363)cGg>cTg	p.R121L	EXOC3L1_ENST00000562887.1_Intron	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	121	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						AACCCGCTCCCGTAGGGGCTC	0.672																																						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.(361-363)cGg>cTg		exocyst complex component 3-like 1							44.0	46.0	45.0					16																	67222689		2198	4300	6498	SO:0001583	missense	283849				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle		g.chr16:67222689C>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.362G>T	16.37:g.67222689C>A	ENSP00000325674:p.Arg121Leu					EXOC3L1_ENST00000562887.1_Intron	p.R121L	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN			4	602	-			121			Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity).		A8K7I9|Q8NAD2|Q8TEN2	Missense_Mutation	SNP	ENST00000314586.6	37	c.362G>T	CCDS10832.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.951576	0.73787	.	.	ENSG00000179044	ENST00000314586	T	0.13307	2.6	5.71	4.76	0.60689	.	0.056770	0.64402	D	0.000001	T	0.26231	0.0640	M	0.73598	2.24	0.80722	D	1	D	0.61080	0.989	P	0.49999	0.628	T	0.03795	-1.1003	10	0.49607	T	0.09	-18.7911	13.7305	0.62785	0.0:0.925:0.0:0.075	.	121	Q86VI1	EX3L1_HUMAN	L	121	ENSP00000325674:R121L	ENSP00000325674:R121L	R	-	2	0	EXOC3L1	65780190	0.997000	0.39634	0.992000	0.48379	0.463000	0.32649	2.419000	0.44671	1.403000	0.46800	0.655000	0.94253	CGG		0.672	EXOC3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268827.2	NM_178516		4	139	1	0	0.150653	1	0.164714	4	139				
ARAP1	116985	broad.mit.edu	37	11	72410502	72410502	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr11:72410502C>A	ENST00000393609.3	-	17	2600	c.2398G>T	c.(2398-2400)Gag>Tag	p.E800*	ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000426523.1_Nonsense_Mutation_p.E555*|ARAP1_ENST00000334211.8_Nonsense_Mutation_p.E555*|ARAP1_ENST00000455638.2_Nonsense_Mutation_p.E800*|ARAP1_ENST00000393605.3_Nonsense_Mutation_p.E560*|ARAP1_ENST00000429686.1_Nonsense_Mutation_p.E494*|ARAP1_ENST00000359373.5_Nonsense_Mutation_p.E800*|ARAP1-AS2_ENST00000500163.2_RNA	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	800	PH 3. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CACACAATCTCGCTGGCCCGA	0.592																																					Ovarian(102;1198 1520 13195 17913 37529)	ENST00000359373.5																			0				cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						c.(2398-2400)Gag>Tag		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1							52.0	49.0	50.0					11																	72410502		2200	4293	6493	SO:0001587	stop_gained	116985				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding	g.chr11:72410502C>A	AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16925	protein-coding gene	gene with protein product		606646	"""centaurin, delta 2"""	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.2398G>T	11.37:g.72410502C>A	ENSP00000377233:p.Glu800*					ARAP1_ENST00000426523.1_Nonsense_Mutation_p.E555*|ARAP1_ENST00000393605.3_Nonsense_Mutation_p.E560*|ARAP1_ENST00000393609.3_Nonsense_Mutation_p.E800*|ARAP1_ENST00000334211.8_Nonsense_Mutation_p.E555*|ARAP1_ENST00000455638.2_Nonsense_Mutation_p.E800*|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000429686.1_Nonsense_Mutation_p.E494*	p.E800*			Q96P48	ARAP1_HUMAN			17	3249	-			800			PH 3.		A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Nonsense_Mutation	SNP	ENST00000393609.3	37	c.2398G>T	CCDS41687.1	.	.	.	.	.	.	.	.	.	.	C	37	6.619986	0.97709	.	.	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393605;ENST00000334211;ENST00000393609;ENST00000426523;ENST00000429686;ENST00000427971;ENST00000452383;ENST00000340247	.	.	.	5.47	5.47	0.80525	.	0.055041	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	17.9101	0.88931	0.0:1.0:0.0:0.0	.	.	.	.	X	800;800;560;555;800;555;494;88;88;589	.	ENSP00000335506:E555X	E	-	1	0	ARAP1	72088150	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	4.494000	0.60347	2.568000	0.86640	0.462000	0.41574	GAG		0.592	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118		3	93	1	0	1	1	1	3	93				
ADAMTS5	11096	broad.mit.edu	37	21	28327096	28327096	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr21:28327096T>C	ENST00000284987.5	-	2	1320	c.1199A>G	c.(1198-1200)gAt>gGt	p.D400G	MIR4759_ENST00000584048.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	400	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						GTGGAGGCCATCGTCTTCAAT	0.517																																					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.(1198-1200)gAt>gGt		ADAM metallopeptidase with thrombospondin type 1 motif, 5							123.0	112.0	116.0					21																	28327096		2203	4300	6503	SO:0001583	missense	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28327096T>C	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.1199A>G	21.37:g.28327096T>C	ENSP00000284987:p.Asp400Gly						p.D400G	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN			2	1320	-			400			Peptidase M12B.		Q52LV4|Q9UKP2	Missense_Mutation	SNP	ENST00000284987.5	37	c.1199A>G	CCDS13579.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.638278	0.87760	.	.	ENSG00000154736	ENST00000284987	D	0.86366	-2.11	5.05	5.05	0.67936	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.93074	0.7795	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93811	0.7110	10	0.66056	D	0.02	.	14.9616	0.71161	0.0:0.0:0.0:1.0	.	400	Q9UNA0	ATS5_HUMAN	G	400	ENSP00000284987:D400G	ENSP00000284987:D400G	D	-	2	0	ADAMTS5	27248967	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	7.868000	0.87116	2.134000	0.65973	0.455000	0.32223	GAT		0.517	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			7	152	0	0	0	1	0	7	152				
TBX15	6913	broad.mit.edu	37	1	119428085	119428085	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr1:119428085G>A	ENST00000369429.3	-	8	1088	c.1079C>T	c.(1078-1080)tCg>tTg	p.S360L	TBX15_ENST00000207157.3_Missense_Mutation_p.S254L			Q96SF7	TBX15_HUMAN	T-box 15	360					embryonic cranial skeleton morphogenesis (GO:0048701)	Tle3-Aes complex (GO:0070722)	RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		AGAAGAAGCCGAAGGGGATGG	0.478																																						ENST00000369429.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37						c.(1078-1080)tCg>tTg		T-box 15							43.0	52.0	49.0					1																	119428085		2202	4299	6501	SO:0001583	missense	6913					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:119428085G>A	AK127536	CCDS30816.1	1p11.1	2008-02-05	2004-10-05		ENSG00000092607	ENSG00000092607		"""T-boxes"""	11594	protein-coding gene	gene with protein product		604127	"""T-box 14"""	TBX14		9693034	Standard	XM_005271162		Approved		uc001ehl.1	Q96SF7	OTTHUMG00000012263	ENST00000369429.3:c.1079C>T	1.37:g.119428085G>A	ENSP00000358437:p.Ser360Leu					TBX15_ENST00000207157.3_Missense_Mutation_p.S254L	p.S360L			Q96SF7	TBX15_HUMAN		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)	8	1088	-	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)	360					Q08E76|Q5JT54|Q5T9S7	Missense_Mutation	SNP	ENST00000369429.3	37	c.1079C>T		.	.	.	.	.	.	.	.	.	.	G	16.40	3.112640	0.56398	.	.	ENSG00000092607	ENST00000344218;ENST00000207157;ENST00000369429;ENST00000449873;ENST00000393149	T;T;T	0.68331	-0.32;-0.32;-0.32	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.54271	0.1848	N	0.11560	0.145	0.80722	D	1	D;D	0.69078	0.997;0.99	D;P	0.70227	0.968;0.492	T	0.52689	-0.8542	10	0.07030	T	0.85	.	19.9961	0.97386	0.0:0.0:1.0:0.0	.	157;360	E9PCG3;Q96SF7	.;TBX15_HUMAN	L	157;254;360;88;87	ENSP00000207157:S254L;ENSP00000358437:S360L;ENSP00000398625:S88L	ENSP00000207157:S254L	S	-	2	0	TBX15	119229608	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.067000	0.93955	2.744000	0.94065	0.561000	0.74099	TCG		0.478	TBX15-002	PUTATIVE	not_organism_supported|upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000034351.1	NM_152380		4	30	0	0	0	1	0	4	30				
ODF3	113746	broad.mit.edu	37	11	200001	200001	+	Missense_Mutation	SNP	T	T	G	rs202158636		TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr11:200001T>G	ENST00000325113.4	+	7	1050	c.733T>G	c.(733-735)Tac>Gac	p.Y245D	ODF3_ENST00000525282.1_Missense_Mutation_p.Y198D|BET1L_ENST00000410108.1_Intron	NM_053280.3	NP_444510.2	Q96PU9	ODF3A_HUMAN	outer dense fiber of sperm tails 3	245					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	outer dense fiber (GO:0001520)				biliary_tract(1)|breast(1)|kidney(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)	9		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		ACACTCTGATTACATGACTCC	0.607																																						ENST00000325113.4																			0				biliary_tract(1)|breast(1)|kidney(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)	9						c.(733-735)Tac>Gac		outer dense fiber of sperm tails 3							138.0	102.0	114.0					11																	200001		2203	4300	6503	SO:0001583	missense	113746				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm		g.chr11:200001T>G	AB067774	CCDS7688.1, CCDS65981.1	11p15.5	2010-04-23			ENSG00000177947	ENSG00000177947			19905	protein-coding gene	gene with protein product	"""cancer/testis antigen 135"""	608356				11870087	Standard	NM_001286136		Approved	SHIPPO1, hSHIPPO, CT135	uc001lob.3	Q96PU9	OTTHUMG00000119073	ENST00000325113.4:c.733T>G	11.37:g.200001T>G	ENSP00000325868:p.Tyr245Asp					ODF3_ENST00000525282.1_Missense_Mutation_p.Y198D|BET1L_ENST00000410108.1_Intron	p.Y245D	NM_053280.3	NP_444510.2	Q96PU9	ODF3A_HUMAN		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)	7	1050	+		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	245					B7ZLT0|Q69YX0	Missense_Mutation	SNP	ENST00000325113.4	37	c.733T>G	CCDS7688.1	.	.	.	.	.	.	.	.	.	.	T	13.96	2.393968	0.42410	.	.	ENSG00000177947	ENST00000325113;ENST00000540150;ENST00000525282	T;T	0.48201	1.14;0.82	4.96	4.96	0.65561	.	0.000000	0.44483	D	0.000456	T	0.67942	0.2947	M	0.81682	2.555	0.80722	D	1	D;D	0.76494	0.995;0.999	D;D	0.87578	0.979;0.998	T	0.71965	-0.4433	10	0.66056	D	0.02	-20.5838	10.9361	0.47247	0.0:0.0:0.0:1.0	.	198;245	B7ZLT0;Q96PU9	.;ODF3A_HUMAN	D	245;115;198	ENSP00000325868:Y245D;ENSP00000436588:Y198D	ENSP00000325868:Y245D	Y	+	1	0	ODF3	190001	1.000000	0.71417	1.000000	0.80357	0.055000	0.15305	5.448000	0.66612	2.072000	0.62099	0.454000	0.30748	TAC		0.607	ODF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239287.1			3	94	0	0	0	1	0	3	94				
STRN3	29966	broad.mit.edu	37	14	31380280	31380280	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr14:31380280G>A	ENST00000357479.5	-	13	1883	c.1687C>T	c.(1687-1689)Ccg>Tcg	p.P563S	STRN3_ENST00000355683.5_Missense_Mutation_p.P479S|STRN3_ENST00000366206.2_5'Flank	NM_001083893.1	NP_001077362.1	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	563					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P479T(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		CTGGGACTCGGCATATTCCAC	0.368																																						ENST00000355683.5																			1	Substitution - Missense(1)	p.P479T(1)	NS(1)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(1435-1437)Ccg>Tcg		striatin, calmodulin binding protein 3							100.0	90.0	93.0					14																	31380280		2203	4300	6503	SO:0001583	missense	29966				negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity	g.chr14:31380280G>A		CCDS9641.1, CCDS41938.1	14q13-q21	2013-01-10			ENSG00000196792	ENSG00000196792		"""WD repeat domain containing"""	15720	protein-coding gene	gene with protein product	"""cell cycle S/G2 nuclear autoantigen"""	614766				7864889, 10681496	Standard	NM_014574		Approved	SG2NA	uc001wqu.2	Q13033	OTTHUMG00000140201	ENST00000357479.5:c.1687C>T	14.37:g.31380280G>A	ENSP00000350071:p.Pro563Ser					STRN3_ENST00000357479.5_Missense_Mutation_p.P563S	p.P479S	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)	11	1650	-	Hepatocellular(127;0.0877)|Breast(36;0.148)		563					A2RTX7|A6NHZ7|Q9NRA5	Missense_Mutation	SNP	ENST00000357479.5	37	c.1435C>T	CCDS41938.1	.	.	.	.	.	.	.	.	.	.	G	30	5.052305	0.93793	.	.	ENSG00000196792	ENST00000355683;ENST00000357479	T;T	0.80480	-1.38;-1.38	6.02	6.02	0.97574	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.85396	0.5687	N	0.25647	0.755	0.80722	D	1	D;D	0.89917	0.959;1.0	P;D	0.83275	0.882;0.996	D	0.86165	0.1596	10	0.72032	D	0.01	-0.2993	20.5407	0.99260	0.0:0.0:1.0:0.0	.	479;563	Q13033-2;Q13033	.;STRN3_HUMAN	S	479;563	ENSP00000347909:P479S;ENSP00000350071:P563S	ENSP00000347909:P479S	P	-	1	0	STRN3	30450031	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.920000	0.87521	2.865000	0.98341	0.655000	0.94253	CCG		0.368	STRN3-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409713.1	NM_014574		4	181	0	0	0	1	0	4	181				
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM920675	TP53	M	rs11540652	c.(742-744)cGg>cAg	Other conserved DNA damage response genes	tumor protein p53		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152.0	112.0	126.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1.0	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577538C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q	p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	875	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.743G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		44	37	0	0	0	1	0	44	37				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		4	141	0	0	0	1	0	4	141				
DPYS	1807	broad.mit.edu	37	8	105459569	105459569	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr8:105459569C>A	ENST00000351513.2	-	3	718	c.586G>T	c.(586-588)Gga>Tga	p.G196*		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	196					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			ATTAAGTCTCCATTTTCCGCA	0.458																																						ENST00000351513.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(586-588)Gga>Tga		dihydropyrimidinase							111.0	103.0	106.0					8																	105459569		2203	4300	6503	SO:0001587	stop_gained	1807				protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	g.chr8:105459569C>A	D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.586G>T	8.37:g.105459569C>A	ENSP00000276651:p.Gly196*						p.G196*	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		3	718	-			196						Nonsense_Mutation	SNP	ENST00000351513.2	37	c.586G>T	CCDS6302.1	.	.	.	.	.	.	.	.	.	.	C	38	7.253044	0.98164	.	.	ENSG00000147647	ENST00000351513;ENST00000521573	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-22.9405	20.547	0.99278	0.0:1.0:0.0:0.0	.	.	.	.	X	196;143	.	ENSP00000276651:G196X	G	-	1	0	DPYS	105528745	1.000000	0.71417	0.986000	0.45419	0.981000	0.71138	7.487000	0.81328	2.850000	0.98022	0.650000	0.86243	GGA		0.458	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385		3	82	1	0	1	1	1	3	82				
A2M	2	broad.mit.edu	37	12	9243977	9243977	+	Silent	SNP	G	G	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr12:9243977G>A	ENST00000318602.7	-	19	2596	c.2289C>T	c.(2287-2289)acC>acT	p.T763T		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	763					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	CCTTCCACTCGGTGATGGTGT	0.522																																						ENST00000318602.7																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77						c.(2287-2289)acC>acT		alpha-2-macroglobulin	Bacitracin(DB00626)|Becaplermin(DB00102)						87.0	93.0	91.0					12																	9243977		2203	4300	6503	SO:0001819	synonymous_variant	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9243977G>A	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.2289C>T	12.37:g.9243977G>A							p.T763T	NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN			19	2596	-			763					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Silent	SNP	ENST00000318602.7	37	c.2289C>T	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	g	0.911	-0.719137	0.03182	.	.	ENSG00000175899	ENST00000543436	.	.	.	5.28	-10.6	0.00265	.	.	.	.	.	T	0.31888	0.0811	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42932	-0.9422	4	.	.	.	.	1.2849	0.02049	0.3009:0.1521:0.3211:0.2259	.	.	.	.	L	11	.	.	P	-	2	0	A2M	9135244	0.000000	0.05858	0.317000	0.25265	0.209000	0.24338	-4.724000	0.00193	-3.188000	0.00220	-2.813000	0.00110	CCG		0.522	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		19	174	0	0	0	1	0	19	174				
EXOC2	55770	broad.mit.edu	37	6	572531	572531	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr6:572531G>A	ENST00000230449.4	-	13	1567	c.1432C>T	c.(1432-1434)Ctc>Ttc	p.L478F	EXOC2_ENST00000448181.3_Missense_Mutation_p.L73F	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	478					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		TCACTGAAGAGGCTTCCATTA	0.438																																						ENST00000230449.4																			0				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46						c.(1432-1434)Ctc>Ttc		exocyst complex component 2							92.0	85.0	88.0					6																	572531		2203	4300	6503	SO:0001583	missense	55770				exocytosis|protein transport			g.chr6:572531G>A	AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"""SEC5-like 1 (S. cerevisiae)"""	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.1432C>T	6.37:g.572531G>A	ENSP00000230449:p.Leu478Phe					EXOC2_ENST00000448181.3_Missense_Mutation_p.L73F	p.L478F	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)	13	1567	-	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)	478					B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Missense_Mutation	SNP	ENST00000230449.4	37	c.1432C>T	CCDS34327.1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.786011	0.70337	.	.	ENSG00000112685	ENST00000230449;ENST00000448181	T	0.49432	0.78	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.27663	0.0680	L	0.52364	1.645	0.80722	D	1	P	0.41313	0.745	B	0.39935	0.314	T	0.04946	-1.0916	10	0.22706	T	0.39	-12.0904	12.2818	0.54767	0.0899:0.0:0.91:0.0	.	478	Q96KP1	EXOC2_HUMAN	F	478;73	ENSP00000230449:L478F	ENSP00000230449:L478F	L	-	1	0	EXOC2	517531	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	5.285000	0.65633	2.379000	0.81126	0.563000	0.77884	CTC		0.438	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039627.1	NM_018303		13	69	0	0	0	1	0	13	69				
HLA-DRB6	3128	broad.mit.edu	37	6	32521666	32521666	+	RNA	SNP	T	T	C	rs373357111		TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr6:32521666T>C	ENST00000411500.1	-	0	817					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		AACAGCCCTGTCCCAAGGAAG	0.507																																						ENST00000411500.1																			0																																																			0							g.chr6:32521666T>C	L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32521666T>C								NR_001298.1						0	817	-									RNA	SNP	ENST00000411500.1	37																																																																																						0.507	HLA-DRB6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000272900.1	NR_001298		4	18	0	0	0	1	0	4	18				
F5	2153	broad.mit.edu	37	1	169529938	169529938	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr1:169529938T>C	ENST00000367797.3	-	4	641	c.440A>G	c.(439-441)gAa>gGa	p.E147G	F5_ENST00000367796.3_Missense_Mutation_p.E147G|F5_ENST00000546081.1_Missense_Mutation_p.E10G	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	147	F5/8 type A 1.|Plastocyanin-like 1.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	ATAGGTGTATTCTCGGCCTGG	0.517																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(439-441)gAa>gGa		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						187.0	158.0	168.0					1																	169529938		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169529938T>C	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.440A>G	1.37:g.169529938T>C	ENSP00000356771:p.Glu147Gly					F5_ENST00000546081.1_Missense_Mutation_p.E10G|F5_ENST00000367797.3_Missense_Mutation_p.E147G	p.E147G			P12259	FA5_HUMAN			4	641	-	all_hematologic(923;0.208)		147			F5/8 type A 1.|Plastocyanin-like 1.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.440A>G	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	T	15.47	2.843580	0.51057	.	.	ENSG00000198734	ENST00000367797;ENST00000367796;ENST00000546081	D;D;D	0.99023	-5.34;-5.34;-5.34	5.39	5.39	0.77823	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.664601	0.15758	N	0.246068	D	0.98629	0.9541	M	0.71036	2.16	0.37076	D	0.898771	D	0.69078	0.997	D	0.63703	0.917	D	0.99271	1.0893	9	0.49607	T	0.09	-22.9765	9.1469	0.36939	0.2786:0.0:0.0:0.7214	.	147	P12259	FA5_HUMAN	G	147;147;10	ENSP00000356771:E147G;ENSP00000356770:E147G;ENSP00000439664:E10G	ENSP00000356770:E147G	E	-	2	0	F5	167796562	0.419000	0.25449	0.324000	0.25361	0.540000	0.34992	3.221000	0.51215	2.029000	0.59856	0.477000	0.44152	GAA		0.517	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		43	276	0	0	0	1	0	43	276				
BRINP2	57795	broad.mit.edu	37	1	177226474	177226474	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr1:177226474C>A	ENST00000361539.4	+	4	935	c.623C>A	c.(622-624)aCg>aAg	p.T208K	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	208	MACPF.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)											AGAGAGAGCACGCTGCGACGG	0.607																																						ENST00000361539.4																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						c.(622-624)aCg>aAg									41.0	41.0	41.0					1																	177226474		2203	4300	6503	SO:0001583	missense	0					extracellular region		g.chr1:177226474C>A		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.623C>A	1.37:g.177226474C>A	ENSP00000354481:p.Thr208Lys					FAM5B_ENST00000478325.1_3'UTR	p.T208K	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN			4	935	+			208					O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	c.623C>A	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.650341	0.87958	.	.	ENSG00000198797	ENST00000361539	T	0.19105	2.17	5.5	4.58	0.56647	Membrane attack complex component/perforin (MACPF) domain (1);	0.058193	0.64402	N	0.000002	T	0.46521	0.1397	M	0.72118	2.19	0.80722	D	1	D;P	0.89917	1.0;0.91	D;B	0.91635	0.999;0.276	T	0.50849	-0.8779	10	0.87932	D	0	-12.256	15.407	0.74887	0.1403:0.8597:0.0:0.0	.	103;208	Q9C0B6-2;Q9C0B6	.;FAM5B_HUMAN	K	208	ENSP00000354481:T208K	ENSP00000354481:T208K	T	+	2	0	FAM5B	175493097	1.000000	0.71417	0.857000	0.33713	0.851000	0.48451	7.399000	0.79935	1.305000	0.44909	-0.169000	0.13324	ACG		0.607	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		3	65	1	0	0.00909568	1	0.0105049	3	65				
EPHA4	2043	broad.mit.edu	37	2	222347239	222347239	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr2:222347239A>G	ENST00000281821.2	-	5	1192	c.1151T>C	c.(1150-1152)gTc>gCc	p.V384A	EPHA4_ENST00000409854.1_Missense_Mutation_p.V384A|EPHA4_ENST00000409938.1_Missense_Mutation_p.V384A|EPHA4_ENST00000392071.4_Missense_Mutation_p.V333A	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	384	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GGTGTAGTGGACCCCACTTCC	0.512																																						ENST00000281821.2																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(1150-1152)gTc>gCc		EPH receptor A4							239.0	247.0	244.0					2																	222347239		2203	4300	6503	SO:0001583	missense	2043					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr2:222347239A>G	L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3388	protein-coding gene	gene with protein product		602188	"""EphA4"""	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.1151T>C	2.37:g.222347239A>G	ENSP00000281821:p.Val384Ala					EPHA4_ENST00000409938.1_Missense_Mutation_p.V384A|EPHA4_ENST00000409854.1_Missense_Mutation_p.V384A|EPHA4_ENST00000392071.4_Missense_Mutation_p.V333A	p.V384A	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)	5	1192	-		Renal(207;0.0183)	384			Fibronectin type-III 1.		A8K2P1|B2R601|B7Z6Q8|Q2M380	Missense_Mutation	SNP	ENST00000281821.2	37	c.1151T>C	CCDS2447.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.41|19.41	3.822880|3.822880	0.71028|0.71028	.|.	.|.	ENSG00000116106|ENSG00000116106	ENST00000441679|ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071;ENST00000443796	.|T;T;T;T;T	.|0.74947	.|-0.89;-0.89;-0.89;-0.87;3.68	6.06|6.06	6.06|6.06	0.98353|0.98353	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.113627	.|0.64402	.|D	.|0.000014	T|T	0.76335|0.76335	0.3973|0.3973	M|M	0.71920|0.71920	2.185|2.185	0.58432|0.58432	D|D	0.999999|0.999999	.|B	.|0.21147	.|0.052	.|B	.|0.26202	.|0.067	T|T	0.73799|0.73799	-0.3869|-0.3869	5|10	.|0.66056	.|D	.|0.02	.|.	16.6093|16.6093	0.84858|0.84858	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|384	.|P54764	.|EPHA4_HUMAN	P|A	121|384;384;384;333;88	.|ENSP00000281821:V384A;ENSP00000386276:V384A;ENSP00000386829:V384A;ENSP00000375923:V333A;ENSP00000395917:V88A	.|ENSP00000281821:V384A	S|V	-|-	1|2	0|0	EPHA4|EPHA4	222055483|222055483	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.841000|0.841000	0.47740|0.47740	9.268000|9.268000	0.95675|0.95675	2.324000|2.324000	0.78689|0.78689	0.533000|0.533000	0.62120|0.62120	TCC|GTC		0.512	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3			88	518	0	0	0	1	0	88	518				
ZNF675	171392	broad.mit.edu	37	19	23837026	23837026	+	Missense_Mutation	SNP	A	A	C			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr19:23837026A>C	ENST00000359788.4	-	4	877	c.709T>G	c.(709-711)Ttt>Gtt	p.F237V	ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000601935.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	237					bone resorption (GO:0045453)|cytokine-mediated signaling pathway (GO:0019221)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AATTGGTTAAAAGTTCTGTCA	0.323																																						ENST00000359788.4																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(709-711)Ttt>Gtt		zinc finger protein 675							57.0	60.0	59.0					19																	23837026		2201	4296	6497	SO:0001583	missense	171392				bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:23837026A>C		CCDS32981.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	30768	protein-coding gene	gene with protein product	"""TRAF6 inhibitory zinc finger"""					11751921	Standard	NM_138330		Approved	TIZ, TBZF	uc002nri.3	Q8TD23		ENST00000359788.4:c.709T>G	19.37:g.23837026A>C	ENSP00000352836:p.Phe237Val					ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000601935.1_Intron	p.F237V	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN			4	877	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	237					Q8N211	Missense_Mutation	SNP	ENST00000359788.4	37	c.709T>G	CCDS32981.1	.	.	.	.	.	.	.	.	.	.	.	14.02	2.412209	0.42817	.	.	ENSG00000197372	ENST00000359788	T	0.47528	0.84	0.916	0.916	0.19373	Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.71204	0.3312	M	0.94101	3.495	0.30300	N	0.789539	D	0.89917	1.0	D	0.79784	0.993	T	0.66011	-0.6029	9	0.72032	D	0.01	.	6.7351	0.23405	1.0:0.0:0.0:0.0	.	237	Q8TD23	ZN675_HUMAN	V	237	ENSP00000352836:F237V	ENSP00000352836:F237V	F	-	1	0	ZNF675	23628866	0.978000	0.34361	0.045000	0.18777	0.045000	0.14185	5.925000	0.70062	0.257000	0.21650	0.254000	0.18369	TTT		0.323	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466433.1	NM_138330		5	147	0	0	0	1	0	5	147				
CYP2D7	1564	broad.mit.edu	37	22	42538870	42538870	+	RNA	SNP	A	A	C	rs2982057	byFrequency	TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr22:42538870A>C	ENST00000428786.1	-	0	0				CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000424775.1_RNA|CYP2D7P1_ENST00000358097.4_RNA																							CCATAGCGCGACAGGAACACC	0.687													N|||	80	0.0159744	0.0023	0.0317	5008	,	,		11900	0.0109		0.0348	False		,,,				2504	0.0092					ENST00000433992.1																			0				endometrium(1)	1																																														0							g.chr22:42538870A>C																													22.37:g.42538870A>C						CYP2D7P1_ENST00000424775.1_RNA|CYP2D7P1_ENST00000358097.4_RNA								0	475	-									RNA	SNP	ENST00000428786.1	37			30	0.013736263736263736	1	0.0020325203252032522	5	0.013812154696132596	5	0.008741258741258742	19	0.025065963060686015	C	8.846	0.943329	0.18281	.	.	ENSG00000205702	ENST00000428297;ENST00000381321;ENST00000436260	.	.	.	3.26	3.26	0.37387	.	.	.	.	.	T	0.04724	0.0128	.	.	.	0.28613	N	0.908552	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.23154	-1.0196	7	0.02654	T	1	.	8.0614	0.30635	0.2422:0.7578:0.0:0.0	rs2982057	122;32	Q6XP50;F5H167	.;.	A	121;71;32	.	ENSP00000446103:S71A	S	-	1	0	CYP2D7P1	40868814	0.299000	0.24426	0.017000	0.16124	0.002000	0.02628	0.565000	0.23578	0.961000	0.38030	-0.290000	0.09829	TCG		0.687	RP4-669P10.16-001	KNOWN	basic|exp_conf	sense_intronic	sense_intronic	OTTHUMT00000320534.1			3	27	0	0	0	1	0	3	27				
TBRG4	9238	broad.mit.edu	37	7	45148519	45148519	+	Silent	SNP	C	C	T			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr7:45148519C>T	ENST00000258770.3	-	2	439	c.318G>A	c.(316-318)cgG>cgA	p.R106R	TBRG4_ENST00000361278.3_Silent_p.R106R|TBRG4_ENST00000471142.1_5'UTR|TBRG4_ENST00000395655.4_Silent_p.R106R|SNORA5B_ENST00000363786.1_RNA|TBRG4_ENST00000494076.1_Silent_p.R106R	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4	106					cell cycle arrest (GO:0007050)|cellular respiration (GO:0045333)|positive regulation of cell proliferation (GO:0008284)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						AGTGAGAGAGCCGGATAAGTA	0.517																																						ENST00000258770.3																			0				cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						c.(316-318)cgG>cgA		transforming growth factor beta regulator 4							135.0	123.0	127.0					7																	45148519		2203	4300	6503	SO:0001819	synonymous_variant	9238				apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity	g.chr7:45148519C>T	AB023165	CCDS5501.1, CCDS5502.1	7p13	2006-07-07			ENSG00000136270	ENSG00000136270			17443	protein-coding gene	gene with protein product	"""FAST kinase domains 4"", ""cell cycle progression 2 protein"""	611325				9383053	Standard	NM_004749		Approved	Cpr2, KIAA0948, H_TD2522F11.8, FASTKD4	uc011kcd.3	Q969Z0	OTTHUMG00000129247	ENST00000258770.3:c.318G>A	7.37:g.45148519C>T						TBRG4_ENST00000471142.1_5'UTR|TBRG4_ENST00000361278.3_Silent_p.R106R|TBRG4_ENST00000395655.4_Silent_p.R106R|TBRG4_ENST00000494076.1_Silent_p.R106R	p.R106R	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN			2	439	-			106					A4D2L2|A4D2L3|D3DVL5|D3DVL6|O14710|Q53GI8|Q8NDM4|Q9BUC6|Q9Y2F6	Silent	SNP	ENST00000258770.3	37	c.318G>A	CCDS5501.1																																																																																				0.517	TBRG4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251351.1	NM_030900		5	242	0	0	0	1	0	5	242				
MIR371B	100616185	broad.mit.edu	37	19	54290996	54290996	+	lincRNA	SNP	C	C	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr19:54290996C>A	ENST00000595160.1	-	0	300				MIR373_ENST00000362273.1_RNA|MIR372_ENST00000362225.1_RNA|MIR371A_ENST00000362161.1_RNA|AC008753.4_ENST00000597420.1_lincRNA	NR_029864.1|NR_029865.1|NR_039909.1				microRNA 371b																		TGAGTGTTACCGCTTGAGAAG	0.577																																						ENST00000595160.1																			0																				45.0	44.0	44.0					19																	54290996		1568	3582	5150			0							g.chr19:54290996C>A			19	2011-09-12				ENSG00000269877		"""ncRNAs / Micro RNAs"""	41863	non-coding RNA	RNA, micro							Standard	NR_039909		Approved	hsa-mir-371b	uc021vba.1				19.37:g.54290996C>A								NR_029864.1|NR_029865.1|NR_039909.1						0	300	-									RNA	SNP	ENST00000595160.1	37																																																																																						0.577	MIR371B-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000465677.1	NR_039909		3	104	1	0	1	1	1	3	104				
HOXD4	3233	broad.mit.edu	37	2	177017514	177017514	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr2:177017514C>A	ENST00000306324.3	+	2	1024	c.612C>A	c.(610-612)aaC>aaA	p.N204K	MIR10B_ENST00000385011.1_RNA|HOXD3_ENST00000468418.3_5'UTR	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	homeobox D4	204					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		GGTTCCAGAACCGGAGGATGA	0.502																																						ENST00000306324.3																			0				kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(610-612)aaC>aaA		homeobox D4							87.0	89.0	88.0					2																	177017514		2203	4300	6503	SO:0001583	missense	3233					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:177017514C>A		CCDS2269.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170166	ENSG00000170166		"""Homeoboxes / ANTP class : HOXL subclass"""	5138	protein-coding gene	gene with protein product		142981	"""homeo box D4"""	HOX4B, HOX4		1973146, 1358459	Standard	NM_014621		Approved		uc002uks.3	P09016	OTTHUMG00000132515	ENST00000306324.3:c.612C>A	2.37:g.177017514C>A	ENSP00000302548:p.Asn204Lys					HOXD3_ENST00000468418.3_5'UTR	p.N204K	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)	2	1024	+			204					B2R9R3|Q96AU0	Missense_Mutation	SNP	ENST00000306324.3	37	c.612C>A	CCDS2269.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.217469	0.58560	.	.	ENSG00000170166	ENST00000306324	D	0.99382	-5.8	5.27	1.42	0.22433	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99560	0.9842	H	0.97874	4.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99069	1.0833	10	0.87932	D	0	.	9.8153	0.40849	0.0:0.7191:0.0:0.2809	.	204	P09016	HXD4_HUMAN	K	204	ENSP00000302548:N204K	ENSP00000302548:N204K	N	+	3	2	HOXD4	176725760	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	2.160000	0.42348	-0.020000	0.14032	0.561000	0.74099	AAC		0.502	HOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255697.2			19	151	1	0	5.3912e-06	1	6.59819e-06	19	151				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			41	87	0	0	0	1	0	41	87				
ACACA	31	broad.mit.edu	37	17	35600456	35600456	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr17:35600456C>T	ENST00000394406.2	-	22	2841	c.2651G>A	c.(2650-2652)cGa>cAa	p.R884Q	ACACA_ENST00000360679.3_Missense_Mutation_p.R826Q|ACACA_ENST00000353139.5_Missense_Mutation_p.R921Q|ACACA_ENST00000335166.5_Missense_Mutation_p.R806Q	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	884					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTTCATCAATCGCTCTACCCA	0.423																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(2761-2763)cGa>cAa		acetyl-CoA carboxylase alpha	Biotin(DB00121)						142.0	138.0	139.0					17																	35600456		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35600456C>T	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.2651G>A	17.37:g.35600456C>T	ENSP00000377928:p.Arg884Gln					ACACA_ENST00000394406.2_Missense_Mutation_p.R884Q|ACACA_ENST00000335166.5_Missense_Mutation_p.R806Q|ACACA_ENST00000360679.3_Missense_Mutation_p.R826Q	p.R921Q	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN			22	3243	-		Breast(25;0.00157)|Ovarian(249;0.15)	884					B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.2762G>A	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.112214	0.37242	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	4.9	4.9	0.64082	Acetyl-CoA carboxylase, central domain (1);	0.057254	0.64402	D	0.000005	T	0.25494	0.0620	N	0.10685	0.025	0.80722	D	1	B;B;B	0.18310	0.027;0.007;0.002	B;B;B	0.15870	0.014;0.007;0.002	T	0.05632	-1.0873	10	0.23891	T	0.37	-12.8744	17.246	0.87028	0.0:1.0:0.0:0.0	.	921;884;826	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	Q	921;826;884;908;806	ENSP00000344789:R921Q;ENSP00000353898:R826Q;ENSP00000377928:R884Q;ENSP00000335323:R806Q	ENSP00000335323:R806Q	R	-	2	0	ACACA	32674569	0.295000	0.24389	0.924000	0.36721	0.984000	0.73092	2.025000	0.41059	2.551000	0.86045	0.563000	0.77884	CGA		0.423	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		91	273	0	0	0	1	0	91	273				
CALR	811	broad.mit.edu	37	19	13050007	13050007	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr19:13050007C>G	ENST00000316448.5	+	2	224	c.151C>G	c.(151-153)Ctc>Gtc	p.L51V		NM_004343.3	NP_004334.1	P27797	CALR_HUMAN	calreticulin	51	N-domain.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|cellular response to lithium ion (GO:0071285)|cellular senescence (GO:0090398)|chaperone-mediated protein folding (GO:0061077)|cortical actin cytoskeleton organization (GO:0030866)|endoplasmic reticulum unfolded protein response (GO:0030968)|glucocorticoid receptor signaling pathway (GO:0042921)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|peptide antigen assembly with MHC class I protein complex (GO:0002502)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of phagocytosis (GO:0050766)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|post-translational protein modification (GO:0043687)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein localization to nucleus (GO:0034504)|protein maturation by protein folding (GO:0022417)|protein N-linked glycosylation via asparagine (GO:0018279)|protein stabilization (GO:0050821)|regulation of apoptotic process (GO:0042981)|regulation of meiosis (GO:0040020)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to testosterone (GO:0033574)|sequestering of calcium ion (GO:0051208)|spermatogenesis (GO:0007283)	acrosomal vesicle (GO:0001669)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|intracellular (GO:0005622)|membrane (GO:0016020)|MHC class I peptide loading complex (GO:0042824)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasmic reticulum (GO:0016529)	androgen receptor binding (GO:0050681)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|chaperone binding (GO:0051087)|complement component C1q binding (GO:0001849)|DNA binding (GO:0003677)|glycoprotein binding (GO:0001948)|hormone binding (GO:0042562)|integrin binding (GO:0005178)|iron ion binding (GO:0005506)|mRNA binding (GO:0003729)|peptide binding (GO:0042277)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Antihemophilic Factor(DB00025)|Melatonin(DB01065)|Tenecteplase(DB00031)	CAAATTCGTTCTCAGTTCCGG	0.527											OREG0025278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000316448.5																			0				kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10						c.(151-153)Ctc>Gtc		calreticulin	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)						49.0	44.0	45.0					19																	13050007		2203	4299	6502	SO:0001583	missense	811				cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding	g.chr19:13050007C>G	M84739	CCDS12288.1	19p13.3-p13.2	2014-09-17				ENSG00000179218			1455	protein-coding gene	gene with protein product	"""Sicca syndrome antigen A (autoantigen Ro; calreticulin)"", ""autoantigen Ro"""	109091				2365822	Standard	NM_004343		Approved	RO, SSA, cC1qR, CRT, FLJ26680	uc002mvu.2	P27797		ENST00000316448.5:c.151C>G	19.37:g.13050007C>G	ENSP00000320866:p.Leu51Val		OREG0025278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	684		p.L51V	NM_004343.3	NP_004334.1	P27797	CALR_HUMAN			2	224	+			51			N-domain.		Q6IAT4|Q9UDG2	Missense_Mutation	SNP	ENST00000316448.5	37	c.151C>G	CCDS12288.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.236787	0.58886	.	.	ENSG00000179218	ENST00000316448	T	0.48201	0.82	5.6	4.57	0.56435	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.41971	0.1182	L	0.46741	1.465	0.80722	D	1	B	0.18013	0.025	B	0.23574	0.047	T	0.23762	-1.0179	10	0.28530	T	0.3	-25.8264	13.1621	0.59550	0.0:0.9218:0.0:0.0782	.	51	P27797	CALR_HUMAN	V	51	ENSP00000320866:L51V	ENSP00000320866:L51V	L	+	1	0	CALR	12911007	1.000000	0.71417	0.522000	0.27862	0.878000	0.50629	4.899000	0.63245	1.366000	0.46076	0.561000	0.74099	CTC		0.527	CALR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451952.1	NM_004343		4	21	0	0	0	1	0	4	21				
ZFAT	57623	broad.mit.edu	37	8	135614421	135614421	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr8:135614421T>C	ENST00000377838.3	-	6	1715	c.1541A>G	c.(1540-1542)gAc>gGc	p.D514G	ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000520356.1_Missense_Mutation_p.D502G|ZFAT_ENST00000523399.1_Missense_Mutation_p.D452G|ZFAT_ENST00000520727.1_Missense_Mutation_p.D502G|ZFAT_ENST00000429442.2_Missense_Mutation_p.D502G|ZFAT_ENST00000520214.1_Missense_Mutation_p.D502G	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	514					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CTGTAGCTGGTCCCCCAGAGC	0.617																																						ENST00000520727.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(1504-1506)gAc>gGc		zinc finger and AT hook domain containing							21.0	22.0	22.0					8																	135614421		1894	4111	6005	SO:0001583	missense	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135614421T>C	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.1541A>G	8.37:g.135614421T>C	ENSP00000367069:p.Asp514Gly					ZFAT_ENST00000520356.1_Missense_Mutation_p.D502G|ZFAT_ENST00000523399.1_Missense_Mutation_p.D452G|ZFAT_ENST00000520214.1_Missense_Mutation_p.D502G|ZFAT_ENST00000429442.2_Missense_Mutation_p.D502G|ZFAT_ENST00000377838.3_Missense_Mutation_p.D514G	p.D502G	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		7	1804	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		514					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	c.1505A>G	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	T	12.34	1.908077	0.33721	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000523399;ENST00000398946	T;T;T;T;T;T	0.11385	2.85;2.78;2.78;2.78;2.78;2.84	6.04	2.69	0.31865	.	0.435687	0.25042	N	0.033596	T	0.04907	0.0132	N	0.04880	-0.145	0.30027	N	0.813788	B;B;B;B	0.06786	0.0;0.001;0.001;0.0	B;B;B;B	0.09377	0.0;0.0;0.004;0.0	T	0.17961	-1.0352	10	0.40728	T	0.16	-26.7512	7.5874	0.28002	0.0:0.23:0.0:0.77	.	452;502;502;514	E9PER3;E9PBN4;Q9P243-3;Q9P243	.;.;.;ZFAT_HUMAN	G	502;502;502;514;502;452;502	ENSP00000427879:D502G;ENSP00000427831:D502G;ENSP00000394501:D502G;ENSP00000367069:D514G;ENSP00000428483:D502G;ENSP00000429091:D452G	ENSP00000367069:D514G	D	-	2	0	ZFAT	135683603	0.996000	0.38824	0.995000	0.50966	0.948000	0.59901	1.735000	0.38176	0.638000	0.30545	0.460000	0.39030	GAC		0.617	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		4	73	0	0	0	1	0	4	73				
HNRNPL	3191	broad.mit.edu	37	19	39334685	39334685	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr19:39334685T>C	ENST00000221419.5	-	5	1136	c.770A>G	c.(769-771)tAt>tGt	p.Y257C	HNRNPL_ENST00000600873.1_Missense_Mutation_p.Y124C|AC008982.2_ENST00000600473.1_RNA	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	257	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			ACAGCCAGAATAGATATCAGC	0.517																																						ENST00000221419.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						c.(769-771)tAt>tGt		heterogeneous nuclear ribonucleoprotein L							143.0	131.0	135.0					19																	39334685		2203	4300	6503	SO:0001583	missense	3191				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding	g.chr19:39334685T>C	X16135	CCDS33015.1, CCDS33016.1	19q13.2	2013-06-12		2007-08-16	ENSG00000104824	ENSG00000104824		"""RNA binding motif (RRM) containing"""	5045	protein-coding gene	gene with protein product		603083		HNRPL		2687284	Standard	NM_001533		Approved		uc021uuh.1	P14866	OTTHUMG00000182612	ENST00000221419.5:c.770A>G	19.37:g.39334685T>C	ENSP00000221419:p.Tyr257Cys					HNRNPL_ENST00000600873.1_Missense_Mutation_p.Y124C	p.Y257C	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)		5	1136	-	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		257			RRM 2.		A6ND69|A6NIT8|Q9H3P3	Missense_Mutation	SNP	ENST00000221419.5	37	c.770A>G	CCDS33015.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.399617	0.83120	.	.	ENSG00000104824	ENST00000221419;ENST00000388749;ENST00000388750;ENST00000423415;ENST00000536292	.	.	.	5.71	5.71	0.89125	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.060637	0.64402	D	0.000002	T	0.81206	0.4774	M	0.84433	2.695	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84447	0.0586	9	0.87932	D	0	.	14.963	0.71171	0.0:0.0:0.0:1.0	.	257	P14866	HNRPL_HUMAN	C	257;124;124;124;185	.	ENSP00000221419:Y257C	Y	-	2	0	HNRNPL	44026525	1.000000	0.71417	0.951000	0.38953	0.957000	0.61999	7.964000	0.87933	2.176000	0.68965	0.455000	0.32223	TAT		0.517	HNRNPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462670.1			19	190	0	0	0	1	0	19	190				
PCNXL2	80003	broad.mit.edu	37	1	233150467	233150467	+	Silent	SNP	G	G	C			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr1:233150467G>C	ENST00000258229.9	-	28	5130	c.4896C>G	c.(4894-4896)gcC>gcG	p.A1632A	PCNXL2_ENST00000344698.2_Silent_p.A284A	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1632						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GGGTGCACAGGGCGAAGGACA	0.537																																						ENST00000258229.8																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(4894-4896)gcC>gcG		pecanex-like 2 (Drosophila)							96.0	94.0	95.0					1																	233150467		1965	4150	6115	SO:0001819	synonymous_variant	80003					integral to membrane		g.chr1:233150467G>C	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.4896C>G	1.37:g.233150467G>C						PCNXL2_ENST00000344698.2_Silent_p.A284A	p.A1632A	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN			28	5130	-		all_cancers(173;0.0347)|Prostate(94;0.137)	1632					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Silent	SNP	ENST00000258229.9	37	c.4896C>G	CCDS44335.1																																																																																				0.537	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		5	169	0	0	0	1	0	5	169				
PZP	5858	broad.mit.edu	37	12	9317915	9317915	+	Silent	SNP	G	G	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr12:9317915G>A	ENST00000261336.2	-	19	2335	c.2307C>T	c.(2305-2307)acC>acT	p.T769T	PZP_ENST00000539983.1_5'UTR|PZP_ENST00000381997.2_Silent_p.T638T	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	769					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						CCTTCCACTCGGTGATGGTGT	0.537																																					Melanoma(125;1402 1695 4685 34487 38571)	ENST00000261336.2																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						c.(2305-2307)acC>acT		pregnancy-zone protein							78.0	69.0	72.0					12																	9317915		2203	4300	6503	SO:0001819	synonymous_variant	5858							g.chr12:9317915G>A	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.2307C>T	12.37:g.9317915G>A						PZP_ENST00000381997.2_Silent_p.T638T|PZP_ENST00000539983.1_5'UTR	p.T769T	NM_002864.2	NP_002855.2					19	2335	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Silent	SNP	ENST00000261336.2	37	c.2307C>T	CCDS8600.1																																																																																				0.537	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		31	99	0	0	0	1	0	31	99				
KIF24	347240	broad.mit.edu	37	9	34256411	34256411	+	Missense_Mutation	SNP	G	G	T			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr9:34256411G>T	ENST00000402558.2	-	10	3218	c.3194C>A	c.(3193-3195)tCt>tAt	p.S1065Y	KIF24_ENST00000379166.2_Missense_Mutation_p.S1065Y|KIF24_ENST00000379174.3_Missense_Mutation_p.S931Y|KIF24_ENST00000345050.2_Missense_Mutation_p.S931Y			Q5T7B8	KIF24_HUMAN	kinesin family member 24	1065					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			CGAGGGAGGAGACCCTTCGTT	0.592																																						ENST00000379166.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(3193-3195)tCt>tAt		kinesin family member 24							73.0	66.0	69.0					9																	34256411		2203	4300	6503	SO:0001583	missense	347240				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:34256411G>T	AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"""Kinesins"", ""Sterile alpha motif (SAM) domain containing"""	19916	protein-coding gene	gene with protein product		613747	"""chromosome 9 open reading frame 48"""	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.3194C>A	9.37:g.34256411G>T	ENSP00000384433:p.Ser1065Tyr					KIF24_ENST00000402558.2_Missense_Mutation_p.S1065Y|KIF24_ENST00000379174.3_Missense_Mutation_p.S931Y|KIF24_ENST00000345050.2_Missense_Mutation_p.S931Y	p.S1065Y	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)		11	3313	-			1065					Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Missense_Mutation	SNP	ENST00000402558.2	37	c.3194C>A	CCDS6551.2	.	.	.	.	.	.	.	.	.	.	G	10.84	1.463958	0.26335	.	.	ENSG00000186638	ENST00000402558;ENST00000379174;ENST00000379166;ENST00000345050;ENST00000420188	T;T;T;T	0.72505	-0.45;-0.66;-0.45;-0.66	4.77	-1.85	0.07784	.	1.787060	0.03070	N	0.156992	T	0.53061	0.1773	L	0.40543	1.245	0.09310	N	1	B	0.27625	0.183	B	0.24541	0.054	T	0.35201	-0.9798	10	0.02654	T	1	.	3.6444	0.08178	0.3154:0.0:0.3037:0.3809	.	1065	Q5T7B8	KIF24_HUMAN	Y	1065;931;1065;931;1065	ENSP00000384433:S1065Y;ENSP00000368472:S931Y;ENSP00000368464:S1065Y;ENSP00000340179:S931Y	ENSP00000340179:S931Y	S	-	2	0	KIF24	34246411	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.360000	0.20250	-0.588000	0.05882	-0.311000	0.09066	TCT		0.592	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5			4	138	1	0	0.00909568	1	0.0105049	4	138				
MANSC1	54682	broad.mit.edu	37	12	12483294	12483294	+	Silent	SNP	C	C	T	rs146158847	byFrequency	TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr12:12483294C>T	ENST00000535902.1	-	4	1526	c.963G>A	c.(961-963)ccG>ccA	p.P321P	MANSC1_ENST00000545735.1_Silent_p.P240P|MANSC1_ENST00000396349.3_Silent_p.P287P			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	321	Thr-rich.					integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		TTTCTGTAAACGGTATGGTTT	0.458													C|||	20	0.00399361	0.0106	0.0086	5008	,	,		22640	0.0		0.0	False		,,,				2504	0.0					ENST00000535902.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23						c.(961-963)ccG>ccA		MANSC domain containing 1		C		26,4380	32.6+/-62.9	1,24,2178	130.0	122.0	124.0		963	-5.9	0.0	12	dbSNP_134	124	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MANSC1	NM_018050.2		1,25,6477	TT,TC,CC		0.0116,0.5901,0.2076		321/432	12483294	27,12979	2203	4300	6503	SO:0001819	synonymous_variant	54682					integral to membrane		g.chr12:12483294C>T	AK001160	CCDS8648.1	12p13.2	2006-04-12				ENSG00000111261			25505	protein-coding gene	gene with protein product						12975309	Standard	NM_018050		Approved	FLJ10298, LOH12CR3	uc001rai.1	Q9H8J5		ENST00000535902.1:c.963G>A	12.37:g.12483294C>T						MANSC1_ENST00000396349.3_Silent_p.P287P|MANSC1_ENST00000545735.1_Silent_p.P240P	p.P321P			Q9H8J5	MANS1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.185)	4	1526	-		Prostate(47;0.0865)	321			Thr-rich.		Q8NEC1|Q9NW60	Silent	SNP	ENST00000535902.1	37	c.963G>A	CCDS8648.1																																																																																				0.458	MANSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400144.1	NM_018050		24	210	0	0	0	1	0	24	210				
HIGD1A	25994	broad.mit.edu	37	3	42835698	42835698	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr3:42835698C>A	ENST00000321331.7	-	2	165	c.48G>T	c.(46-48)caG>caT	p.Q16H	HIGD1A_ENST00000418900.2_Missense_Mutation_p.Q16H|HIGD1A_ENST00000452906.2_Missense_Mutation_p.Q30H|HIGD1A_ENST00000430190.1_Missense_Mutation_p.Q16H|HIGD1A_ENST00000470543.1_Intron	NM_001099669.1|NM_014056.3	NP_001093139.1|NP_054775.2	Q9Y241	HIG1A_HUMAN	HIG1 hypoxia inducible domain family, member 1A	16	HIG1. {ECO:0000255|PROSITE- ProRule:PRU00836}.				cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|protein complex (GO:0043234)|respiratory chain (GO:0070469)				lung(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.217)		GTTTTGATCCCTGATCTTCCT	0.398																																						ENST00000321331.7																			0				lung(1)	1						c.(46-48)caG>caT		HIG1 hypoxia inducible domain family, member 1A							99.0	89.0	92.0					3																	42835698		1869	4106	5975	SO:0001583	missense	25994				response to stress	integral to membrane|protein complex	protein binding	g.chr3:42835698C>A	BC009583	CCDS43073.1, CCDS46806.1	3p22.1	2014-02-12	2009-03-17		ENSG00000181061	ENSG00000181061			29527	protein-coding gene	gene with protein product	"""hypoxia inducible gene 1"""		"""HIG1 domain family, member 1A"""			11042152, 11230166	Standard	NM_001099668		Approved	HIG1, DKFZP564K247	uc010hid.3	Q9Y241	OTTHUMG00000156277	ENST00000321331.7:c.48G>T	3.37:g.42835698C>A	ENSP00000319393:p.Gln16His					HIGD1A_ENST00000430190.1_Missense_Mutation_p.Q16H|HIGD1A_ENST00000418900.2_Missense_Mutation_p.Q16H|HIGD1A_ENST00000470543.1_Intron|HIGD1A_ENST00000452906.2_Missense_Mutation_p.Q30H	p.Q16H	NM_001099669.1|NM_014056.3	NP_001093139.1|NP_054775.2	Q9Y241	HIG1A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.217)	2	165	-			16			HIG1.		Q9UFZ2	Missense_Mutation	SNP	ENST00000321331.7	37	c.48G>T	CCDS43073.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.389011	0.61956	.	.	ENSG00000181061	ENST00000321331;ENST00000418900;ENST00000430190;ENST00000452906	T;T;T	0.32988	1.45;1.45;1.43	5.13	4.25	0.50352	Hypoxia induced protein, domain (1);	0.208091	0.50627	D	0.000107	T	0.37705	0.1013	.	.	.	0.48135	D	0.999593	D;P	0.55800	0.973;0.836	P;P	0.60949	0.881;0.687	T	0.02417	-1.1162	9	0.14656	T	0.56	-1.1869	8.8418	0.35146	0.0:0.9018:0.0:0.0982	.	30;16	Q9Y241-2;Q9Y241	.;HIG1A_HUMAN	H	16;16;16;30	ENSP00000319393:Q16H;ENSP00000402160:Q16H;ENSP00000398064:Q30H	ENSP00000319393:Q16H	Q	-	3	2	HIGD1A	42810702	0.817000	0.29147	1.000000	0.80357	0.980000	0.70556	-0.239000	0.08965	2.824000	0.97209	0.655000	0.94253	CAG		0.398	HIGD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343686.1	NM_014056		4	160	1	0	0.150653	1	0.164714	4	160				
CETN1	1068	broad.mit.edu	37	18	580651	580651	+	Silent	SNP	G	G	T			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr18:580651G>T	ENST00000327228.3	+	1	285	c.243G>T	c.(241-243)acG>acT	p.T81T		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	81	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to heat (GO:0034605)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|photoreceptor connecting cilium (GO:0032391)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|calcium ion binding (GO:0005509)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						GGGAAGGCACGGGGAAGATCA	0.537																																						ENST00000327228.3																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						c.(241-243)acG>acT		centrin, EF-hand protein, 1							73.0	64.0	67.0					18																	580651		2203	4300	6503	SO:0001819	synonymous_variant	1068				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding	g.chr18:580651G>T	U03270	CCDS11820.1	18p11.32	2013-01-10			ENSG00000177143	ENSG00000177143		"""EF-hand domain containing"""	1866	protein-coding gene	gene with protein product		603187		CETN		8175926	Standard	NM_004066		Approved	CEN1	uc002kko.1	Q12798	OTTHUMG00000131471	ENST00000327228.3:c.243G>T	18.37:g.580651G>T							p.T81T	NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN			1	285	+			81			EF-hand 2.		B2R536	Silent	SNP	ENST00000327228.3	37	c.243G>T	CCDS11820.1																																																																																				0.537	CETN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254314.2	NM_004066		3	84	1	0	1	1	1	3	84				
MLH1	4292	broad.mit.edu	37	3	37045902	37045902	+	Missense_Mutation	SNP	G	G	A	rs368208495		TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr3:37045902G>A	ENST00000231790.2	+	4	533	c.317G>A	c.(316-318)aGc>aAc	p.S106N	MLH1_ENST00000455445.2_5'UTR|MLH1_ENST00000458205.2_5'UTR|MLH1_ENST00000435176.1_Missense_Mutation_p.S8N|MLH1_ENST00000539477.1_5'UTR|MLH1_ENST00000536378.1_5'UTR|MLH1_ENST00000492474.1_3'UTR	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	106			S -> R (in gastric cancer; unknown pathological significance). {ECO:0000269|PubMed:12132870}.		ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)			NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						GCTTTGGCCAGCATAAGCCAT	0.408		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000231790.2		1	yes	Rec	yes	"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	3	3p21.3	4292	"""D, Mis, N, F, S"""	E.coli MutL homolog gene			"""E, O"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		0				NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						c.(316-318)aGc>aAc	Mismatch excision repair (MMR)	mutL homolog 1		G	ASN/SER,ASN/SER,,	1,4405	2.1+/-5.4	0,1,2202	160.0	159.0	159.0		317,23,,	6.0	1.0	3		159	0,8600		0,0,4300	no	missense,missense,utr-5,utr-5	MLH1	NM_000249.3,NM_001167617.1,NM_001167618.1,NM_001167619.1	46,46,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,,	106/757,8/659,,	37045902	1,13005	2203	4300	6503	SO:0001583	missense	4292	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	g.chr3:37045902G>A	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"""mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)"", ""mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"""	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.317G>A	3.37:g.37045902G>A	ENSP00000231790:p.Ser106Asn					MLH1_ENST00000455445.2_5'UTR|MLH1_ENST00000458205.2_5'UTR|MLH1_ENST00000536378.1_5'UTR|MLH1_ENST00000435176.1_Missense_Mutation_p.S8N|MLH1_ENST00000492474.1_3'UTR|MLH1_ENST00000539477.1_5'UTR	p.S106N	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN			4	533	+			106		S -> R (in gastric cancer; uncertain pathogenicity).			B4DI13|B4DQ11|E9PCU2	Missense_Mutation	SNP	ENST00000231790.2	37	c.317G>A	CCDS2663.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.483487|5.483487	0.96307|0.96307	2.27E-4|2.27E-4	0.0|0.0	ENSG00000076242|ENSG00000076242	ENST00000456676|ENST00000231790;ENST00000436867;ENST00000537937;ENST00000435176;ENST00000429117	.|D;D;T	.|0.91295	.|-2.82;-2.82;-0.99	6.02|6.02	6.02|6.02	0.97574|0.97574	.|DNA mismatch repair protein, N-terminal (1);ATPase-like, ATP-binding domain (4);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.98102|0.98102	0.9374|0.9374	H|H	0.99900|0.99900	4.915|4.915	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;1.0;1.0	D|D	0.99201|0.99201	1.0873|1.0873	5|10	.|0.87932	.|D	.|0	-23.5539|-23.5539	19.3087|19.3087	0.94175|0.94175	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|8;106;106	.|E9PCU2;Q53GX1;P40692	.|.;.;MLH1_HUMAN	T|N	98|106;72;72;8;8	.|ENSP00000231790:S106N;ENSP00000402564:S8N;ENSP00000407019:S8N	.|ENSP00000231790:S106N	A|S	+|+	1|2	0|0	MLH1|MLH1	37020906|37020906	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	8.596000|8.596000	0.90844|0.90844	2.857000|2.857000	0.98124|0.98124	0.650000|0.650000	0.86243|0.86243	GCA|AGC		0.408	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2	NM_000249		5	246	0	0	0	1	0	5	246				
HDC	3067	broad.mit.edu	37	15	50555560	50555560	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr15:50555560G>A	ENST00000267845.3	-	2	478	c.76C>T	c.(76-78)Cgg>Tgg	p.R26W	HDC_ENST00000543581.1_Missense_Mutation_p.R26W	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)		CGTCTCTCCCGCACAGTGCTC	0.577																																					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.(76-78)Cgg>Tgg		histidine decarboxylase	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)						82.0	72.0	76.0					15																	50555560		2196	4295	6491	SO:0001583	missense	3067				catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	g.chr15:50555560G>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.76C>T	15.37:g.50555560G>A	ENSP00000267845:p.Arg26Trp					HDC_ENST00000543581.1_Missense_Mutation_p.R26W	p.R26W	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	2	478	-		all_lung(180;0.0138)	26						Missense_Mutation	SNP	ENST00000267845.3	37	c.76C>T	CCDS10134.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.036534	0.54896	.	.	ENSG00000140287	ENST00000267845;ENST00000543581	T;T	0.39229	1.09;1.09	6.05	2.81	0.32909	Pyridoxal phosphate-dependent transferase, major domain (1);	0.108035	0.64402	D	0.000009	T	0.66386	0.2784	M	0.88377	2.95	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.70905	-0.4745	10	0.87932	D	0	-16.9347	10.3878	0.44152	0.0:0.095:0.5113:0.3937	.	26;26	B7ZM01;P19113	.;DCHS_HUMAN	W	26	ENSP00000267845:R26W;ENSP00000440252:R26W	ENSP00000267845:R26W	R	-	1	2	HDC	48342852	1.000000	0.71417	0.990000	0.47175	0.419000	0.31324	1.266000	0.33039	0.866000	0.35629	-0.181000	0.13052	CGG		0.577	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254540.1			4	168	0	0	0	1	0	4	168				
FAM65B	9750	broad.mit.edu	37	6	24843453	24843453	+	Silent	SNP	G	G	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr6:24843453G>A	ENST00000259698.4	-	14	1732	c.1557C>T	c.(1555-1557)tgC>tgT	p.C519C	FAM65B_ENST00000538035.1_Silent_p.C498C|FAM65B_ENST00000540914.1_Silent_p.C469C|FAM65B_ENST00000510784.2_Silent_p.C503C|FAM65B_ENST00000378023.4_Silent_p.C469C|FAM65B_ENST00000473070.1_5'Flank	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	519					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						ACTGTCGGCGGCAAGCCTCAG	0.587																																						ENST00000259698.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						c.(1555-1557)tgC>tgT		family with sequence similarity 65, member B							66.0	66.0	66.0					6																	24843453		1908	4109	6017	SO:0001819	synonymous_variant	9750				cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding	g.chr6:24843453G>A	U49187	CCDS47383.1, CCDS47384.1, CCDS69057.1, CCDS69058.1, CCDS75410.1	6p22.3-p21.32	2012-11-30	2008-06-13	2008-06-13	ENSG00000111913	ENSG00000111913			13872	protein-coding gene	gene with protein product	"""myogenesis-related and NCAM-associated protein homolog (chicken)"""	611410	"""chromosome 6 open reading frame 32"""	C6orf32		9205841, 17150207, 17825087	Standard	NM_001286447		Approved	KIAA0386, DIFF48, MYONAP	uc003neo.1	Q9Y4F9	OTTHUMG00000014375	ENST00000259698.4:c.1557C>T	6.37:g.24843453G>A						FAM65B_ENST00000378023.4_Silent_p.C469C|FAM65B_ENST00000538035.1_Silent_p.C498C|FAM65B_ENST00000540914.1_Silent_p.C469C|FAM65B_ENST00000510784.2_Silent_p.C503C	p.C519C	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN			14	1732	-			519					A6NHP2|Q13529|Q5VV37|Q5VV38|Q9BQ28	Silent	SNP	ENST00000259698.4	37	c.1557C>T	CCDS47383.1																																																																																				0.587	FAM65B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040024.2			4	105	0	0	0	1	0	4	105				
GPR132	29933	broad.mit.edu	37	14	105518221	105518221	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr14:105518221C>T	ENST00000329797.3	-	4	1164	c.253G>A	c.(253-255)Gca>Aca	p.A85T	GPR132_ENST00000539291.2_Missense_Mutation_p.A85T|GPR132_ENST00000392585.2_Missense_Mutation_p.A76T|GPR132_ENST00000546679.1_5'UTR	NM_001278694.1|NM_001278696.1|NM_013345.2	NP_001265623.1|NP_001265625.1|NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	85					G1/S transition of mitotic cell cycle (GO:0000082)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A85T(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		TCGCAGAGTGCCAGGCAGAGC	0.657																																						ENST00000329797.3																			1	Substitution - Missense(1)	p.A85T(1)	kidney(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(253-255)Gca>Aca		G protein-coupled receptor 132							93.0	88.0	90.0					14																	105518221		2203	4300	6503	SO:0001583	missense	29933				response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr14:105518221C>T	AF083955	CCDS9997.1, CCDS61567.1	14q32.3	2012-08-21			ENSG00000183484	ENSG00000183484		"""GPCR / Class A : Orphans"""	17482	protein-coding gene	gene with protein product	"""G2 accumulation"""	606167				12086852	Standard	NM_013345		Approved	G2A	uc001yqd.3	Q9UNW8	OTTHUMG00000140173	ENST00000329797.3:c.253G>A	14.37:g.105518221C>T	ENSP00000328818:p.Ala85Thr					GPR132_ENST00000546679.1_5'UTR|GPR132_ENST00000539291.2_Missense_Mutation_p.A85T|GPR132_ENST00000392585.2_Missense_Mutation_p.A76T	p.A85T	NM_013345.2	NP_037477.1	Q9UNW8	GP132_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)	4	1164	-		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	85					A8K7X7|B4E144|Q9BSU2	Missense_Mutation	SNP	ENST00000329797.3	37	c.253G>A	CCDS9997.1	.	.	.	.	.	.	.	.	.	.	C	8.183	0.794205	0.16327	.	.	ENSG00000183484	ENST00000329797;ENST00000392585;ENST00000539291	T;T;T	0.56103	0.48;0.48;0.48	4.83	0.364	0.16124	GPCR, rhodopsin-like superfamily (1);	0.138182	0.49916	D	0.000139	T	0.43986	0.1272	L	0.41492	1.28	0.29376	N	0.863637	B;B	0.21520	0.057;0.057	B;B	0.28011	0.085;0.085	T	0.45396	-0.9264	10	0.42905	T	0.14	.	13.9844	0.64324	0.7542:0.2458:0.0:0.0	.	76;85	B4E144;Q9UNW8	.;GP132_HUMAN	T	85;76;85	ENSP00000328818:A85T;ENSP00000376364:A76T;ENSP00000438094:A85T	ENSP00000328818:A85T	A	-	1	0	GPR132	104589266	1.000000	0.71417	0.998000	0.56505	0.416000	0.31233	2.415000	0.44635	0.054000	0.16065	-0.475000	0.04921	GCA		0.657	GPR132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409278.1	NM_013345		4	176	0	0	0	1	0	4	176				
MYOT	9499	broad.mit.edu	37	5	137222679	137222679	+	Missense_Mutation	SNP	C	C	A	rs147891371		TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr5:137222679C>A	ENST00000239926.4	+	9	1691	c.1317C>A	c.(1315-1317)gaC>gaA	p.D439E	PKD2L2_ENST00000290431.5_5'Flank|PKD2L2_ENST00000502810.1_5'Flank|MYOT_ENST00000421631.2_Missense_Mutation_p.D255E|PKD2L2_ENST00000350250.4_5'Flank|PKD2L2_ENST00000508883.1_5'Flank|PKD2L2_ENST00000508638.1_5'Flank|RP11-381K20.2_ENST00000514616.1_RNA|RP11-381K20.2_ENST00000508281.2_RNA|MYOT_ENST00000515645.1_Missense_Mutation_p.D324E	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin	439	Ig-like C2-type 2.|Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.				muscle contraction (GO:0006936)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	structural constituent of muscle (GO:0008307)			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CAAGATTAGACGTTACGGGTA	0.328																																						ENST00000239926.4																			0				cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23						c.(1315-1317)gaC>gaA		myotilin							87.0	95.0	92.0					5																	137222679		2203	4300	6503	SO:0001583	missense	9499				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle	g.chr5:137222679C>A	AF133820	CCDS4194.1, CCDS47268.1, CCDS75309.1	5q31.2	2014-09-17	2005-09-07	2005-09-07	ENSG00000120729	ENSG00000120729		"""Immunoglobulin superfamily / I-set domain containing"""	12399	protein-coding gene	gene with protein product		604103	"""titin immunoglobulin domain protein (myotilin)"", ""limb-girdle muscular dystrophy 1A (autosomal dominant)"""	TTID, LGMD1A, LGMD1		10486214, 10369880	Standard	NM_006790		Approved		uc003lbv.3	Q9UBF9	OTTHUMG00000129154	ENST00000239926.4:c.1317C>A	5.37:g.137222679C>A	ENSP00000239926:p.Asp439Glu					MYOT_ENST00000421631.2_Missense_Mutation_p.D255E|RP11-381K20.2_ENST00000508281.2_RNA|RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000515645.1_Missense_Mutation_p.D324E	p.D439E	NM_006790.2	NP_006781.1	Q9UBF9	MYOTI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		9	1691	+			439			Ig-like C2-type 2.|Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.		A0A4R6|B4DT79	Missense_Mutation	SNP	ENST00000239926.4	37	c.1317C>A	CCDS4194.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.865897	0.51588	.	.	ENSG00000120729	ENST00000239926;ENST00000421631;ENST00000515645	T;T;T	0.64991	-0.13;-0.13;-0.13	6.07	3.72	0.42706	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.54615	0.1869	L	0.41027	1.25	0.49483	D	0.999792	B	0.31837	0.342	B	0.42030	0.373	T	0.42050	-0.9474	10	0.23302	T	0.38	.	6.8735	0.24133	0.0:0.1409:0.1354:0.7237	.	439	Q9UBF9	MYOTI_HUMAN	E	439;255;324	ENSP00000239926:D439E;ENSP00000391185:D255E;ENSP00000426281:D324E	ENSP00000239926:D439E	D	+	3	2	MYOT	137250578	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	1.677000	0.37576	0.549000	0.28973	-0.482000	0.04802	GAC		0.328	MYOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251219.2	NM_006790		3	139	1	0	0.150653	1	0.164714	3	139				
CHD9	80205	broad.mit.edu	37	16	53338156	53338156	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr16:53338156C>A	ENST00000398510.3	+	30	6325	c.6238C>A	c.(6238-6240)Cca>Aca	p.P2080T	CHD9_ENST00000566029.1_Missense_Mutation_p.P2080T|CHD9_ENST00000447540.1_Missense_Mutation_p.P2080T|CHD9_ENST00000564845.1_Missense_Mutation_p.P2080T			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2080					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GCCTGTAAGTCCAAAGAATGG	0.428																																						ENST00000566029.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(6238-6240)Cca>Aca		chromodomain helicase DNA binding protein 9							38.0	37.0	37.0					16																	53338156		1853	4093	5946	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53338156C>A	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.6238C>A	16.37:g.53338156C>A	ENSP00000381522:p.Pro2080Thr					CHD9_ENST00000447540.1_Missense_Mutation_p.P2080T|CHD9_ENST00000564845.1_Missense_Mutation_p.P2080T|CHD9_ENST00000398510.3_Missense_Mutation_p.P2080T	p.P2080T			Q3L8U1	CHD9_HUMAN			31	6447	+		all_cancers(37;0.0212)	2080					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.6238C>A		.	.	.	.	.	.	.	.	.	.	C	16.44	3.124331	0.56613	.	.	ENSG00000177200	ENST00000447540;ENST00000398510	D;D	0.86562	-2.06;-2.14	6.16	6.16	0.99307	.	0.000000	0.64402	D	0.000016	D	0.92280	0.7551	L	0.60455	1.87	0.49687	D	0.999817	D;D;D;D	0.89917	1.0;0.993;1.0;1.0	D;D;D;D	0.87578	0.994;0.91;0.994;0.998	D	0.88088	0.2811	10	0.20519	T	0.43	-15.8951	20.8598	0.99761	0.0:1.0:0.0:0.0	.	2080;2080;2080;2080	B7ZML1;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	T	2080	ENSP00000396345:P2080T;ENSP00000381522:P2080T	ENSP00000381522:P2080T	P	+	1	0	CHD9	51895657	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.918000	0.63376	2.937000	0.99478	0.650000	0.86243	CCA		0.428	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		3	35	1	0	1	1	1	3	35				
HEXA	3073	broad.mit.edu	37	15	72668152	72668152	+	Silent	SNP	C	C	T			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr15:72668152C>T	ENST00000268097.5	-	1	665	c.162G>A	c.(160-162)gcG>gcA	p.A54A	HEXA_ENST00000566304.1_Silent_p.A54A|HEXA_ENST00000457859.2_5'UTR|HEXA_ENST00000567213.1_5'UTR|HEXA-AS1_ENST00000567598.1_RNA|HEXA_ENST00000429918.2_5'UTR|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000567159.1_Silent_p.A54A	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	54					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						AGCCGGGCTGCGCGGCCGAGC	0.617																																						ENST00000268097.5																			0				breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						c.(160-162)gcG>gcA		hexosaminidase A (alpha polypeptide)							131.0	145.0	140.0					15																	72668152		2199	4297	6496	SO:0001819	synonymous_variant	3073				cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity	g.chr15:72668152C>T	M13520	CCDS10243.1	15q24.1	2012-10-02			ENSG00000213614	ENSG00000213614	3.2.1.52		4878	protein-coding gene	gene with protein product	"""Tay Sachs disease"", ""GM2 gangliosidosis"""	606869				2952641, 3013851	Standard	NM_000520		Approved		uc002aun.4	P06865	OTTHUMG00000133445	ENST00000268097.5:c.162G>A	15.37:g.72668152C>T						HEXA_ENST00000429918.2_5'UTR|HEXA_ENST00000457859.2_5'UTR|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000567159.1_Silent_p.A54A|HEXA_ENST00000566304.1_Silent_p.A54A|HEXA_ENST00000567213.1_5'UTR	p.A54A	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN			1	665	-			54					B4DKE7|E7ENH7|Q53HS8|Q6AI32	Silent	SNP	ENST00000268097.5	37	c.162G>A	CCDS10243.1																																																																																				0.617	HEXA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257317.2	NM_000520		5	336	0	0	0	1	0	5	336				
PIM1	5292	broad.mit.edu	37	6	37138975	37138975	+	Missense_Mutation	SNP	G	G	C			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr6:37138975G>C	ENST00000373509.5	+	4	688	c.315G>C	c.(313-315)agG>agC	p.R105S		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	196					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	GCGTCATTAGGCTCCTGGACT	0.617			T	BCL6	NHL																																	ENST00000373509.5				Dom	yes		6	6p21.2	5292	T	pim-1 oncogene			L	BCL6		NHL		0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30						c.(313-315)agG>agC		pim-1 oncogene	Adenosine monophosphate(DB00131)						94.0	105.0	101.0					6																	37138975		2203	4300	6503	SO:0001583	missense	5292				cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation	cytoplasm|nucleus|plasma membrane	ATP binding|manganese ion binding|protein binding|protein serine/threonine kinase activity|transcription factor binding	g.chr6:37138975G>C		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"""pim-1 oncogene"""	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.315G>C	6.37:g.37138975G>C	ENSP00000362608:p.Arg105Ser						p.R105S	NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(102;0.241)		4	688	+			196					Q38RT9|Q5T7H7|Q96RG3	Missense_Mutation	SNP	ENST00000373509.5	37	c.315G>C	CCDS4830.1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.800441	0.70567	.	.	ENSG00000137193	ENST00000373509	T	0.14391	2.51	4.28	-1.51	0.08664	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.208574	0.34338	N	0.004051	T	0.06508	0.0167	L	0.46157	1.445	0.36797	D	0.885134	B	0.30937	0.301	B	0.42522	0.39	T	0.22243	-1.0222	10	0.87932	D	0	.	5.1535	0.15023	0.2621:0.2743:0.4635:0.0	.	196	P11309	PIM1_HUMAN	S	105	ENSP00000362608:R105S	ENSP00000362608:R105S	R	+	3	2	PIM1	37246953	0.989000	0.36119	0.615000	0.29064	0.991000	0.79684	0.407000	0.21049	-0.438000	0.07232	0.549000	0.68633	AGG		0.617	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1			5	347	0	0	0	1	0	5	347				
GABRB1	2560	broad.mit.edu	37	4	47427893	47427893	+	Missense_Mutation	SNP	G	G	A	rs540688967		TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr4:47427893G>A	ENST00000295454.3	+	9	1575	c.1283G>A	c.(1282-1284)cGc>cAc	p.R428H	GABRB1_ENST00000538619.1_Missense_Mutation_p.R358H	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	428					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)	AGCAAGGGGCGCATCCGCAGG	0.607																																						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.(1282-1284)cGc>cAc		gamma-aminobutyric acid (GABA) A receptor, beta 1	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						62.0	64.0	63.0					4																	47427893		2203	4300	6503	SO:0001583	missense	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.chr4:47427893G>A		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.1283G>A	4.37:g.47427893G>A	ENSP00000295454:p.Arg428His					GABRB1_ENST00000538619.1_Missense_Mutation_p.R358H	p.R428H	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN			9	1575	+			428					B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	ENST00000295454.3	37	c.1283G>A	CCDS3474.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.463894	0.43736	.	.	ENSG00000163288	ENST00000295454;ENST00000538619	D;D	0.84146	-1.81;-1.81	5.38	5.38	0.77491	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.204155	0.42964	D	0.000629	T	0.72542	0.3473	N	0.17379	0.485	0.58432	D	0.999998	B;B	0.30973	0.006;0.302	B;B	0.26094	0.008;0.066	T	0.69468	-0.5137	10	0.23891	T	0.37	-13.1334	13.0157	0.58754	0.083:0.0:0.917:0.0	.	358;428	F5GXV5;P18505	.;GBRB1_HUMAN	H	428;358	ENSP00000295454:R428H;ENSP00000440330:R358H	ENSP00000295454:R428H	R	+	2	0	GABRB1	47122650	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	4.344000	0.59354	2.803000	0.96430	0.650000	0.86243	CGC		0.607	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1			4	174	0	0	0	1	0	4	174				
DUSP11	8446	broad.mit.edu	37	2	74002107	74002107	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr2:74002107C>A	ENST00000272444.3	-	3	424	c.383G>T	c.(382-384)cGa>cTa	p.R128L	DUSP11_ENST00000377706.4_Missense_Mutation_p.R81L|DUSP11_ENST00000443070.1_Missense_Mutation_p.R128L|DUSP11_ENST00000480948.1_5'UTR	NM_003584.2	NP_003575.2	O75319	DUS11_HUMAN	dual specificity phosphatase 11 (RNA/RNP complex 1-interacting)	81	Tyrosine-protein phosphatase.				peptidyl-tyrosine dephosphorylation (GO:0035335)|polynucleotide 5' dephosphorylation (GO:0098507)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|phosphatase activity (GO:0016791)|poly(A) RNA binding (GO:0044822)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1)	12						ATTTTGTTCTCGGATTTTGTT	0.338																																						ENST00000443070.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1)	12						c.(382-384)cGa>cTa		dual specificity phosphatase 11 (RNA/RNP complex 1-interacting)							93.0	96.0	95.0					2																	74002107		2203	4299	6502	SO:0001583	missense	8446				RNA processing	nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|RNA binding	g.chr2:74002107C>A	AF023917	CCDS1928.2	2p13.1	2011-06-09			ENSG00000144048	ENSG00000144048		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	3066	protein-coding gene	gene with protein product		603092				9685386	Standard	NM_003584		Approved	PIR1	uc002sjp.3	O75319	OTTHUMG00000129816	ENST00000272444.3:c.383G>T	2.37:g.74002107C>A	ENSP00000272444:p.Arg128Leu					DUSP11_ENST00000272444.3_Missense_Mutation_p.R128L|DUSP11_ENST00000377706.4_Missense_Mutation_p.R81L|DUSP11_ENST00000480948.1_5'UTR	p.R128L			O75319	DUS11_HUMAN			3	388	-			81			Tyrosine-protein phosphatase.		B2RCT8|Q6AI47|Q9BWE3	Missense_Mutation	SNP	ENST00000272444.3	37	c.383G>T	CCDS1928.2	.	.	.	.	.	.	.	.	.	.	C	11.36	1.614997	0.28712	.	.	ENSG00000144048	ENST00000272444;ENST00000443070;ENST00000377706;ENST00000452812	T;T	0.32988	1.43;1.88	4.71	-4.67	0.03319	.	0.904261	0.09730	N	0.763308	T	0.27349	0.0671	N	0.16130	0.375	0.09310	N	1	D;B	0.63880	0.993;0.191	P;B	0.56474	0.799;0.258	T	0.32613	-0.9900	10	0.38643	T	0.18	-0.1216	12.4783	0.55827	0.0:0.2899:0.0:0.7101	.	128;81	C9JYA6;O75319	.;DUS11_HUMAN	L	128;128;81;79	ENSP00000413444:R128L;ENSP00000366935:R81L	ENSP00000272444:R128L	R	-	2	0	DUSP11	73855615	0.974000	0.33945	0.001000	0.08648	0.099000	0.18886	-0.125000	0.10579	-1.051000	0.03226	-0.302000	0.09304	CGA		0.338	DUSP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252047.3			3	173	1	0	0.115264	1	0.131273	3	173				
RGS9	8787	broad.mit.edu	37	17	63200387	63200387	+	Missense_Mutation	SNP	G	G	A	rs546251938		TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr17:63200387G>A	ENST00000262406.9	+	15	1238	c.1171G>A	c.(1171-1173)Gca>Aca	p.A391T	RGS9_ENST00000443584.3_Missense_Mutation_p.A388T|RGS9_ENST00000449996.3_Missense_Mutation_p.A388T	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	391	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						GCTGGACGCCGCACAAACCCA	0.562																																						ENST00000449996.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						c.(1162-1164)Gca>Aca		regulator of G-protein signaling 9							61.0	65.0	64.0					17																	63200387		1948	4150	6098	SO:0001583	missense	8787				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr17:63200387G>A	AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"""Regulators of G-protein signaling"""	10004	protein-coding gene	gene with protein product	"""regulator of G protein signalling 9"", ""regulator of G protein signalling 9L"", ""regulator of G-protein signaling 9L"""	604067	"""regulator of G-protein signalling 9"""			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.1171G>A	17.37:g.63200387G>A	ENSP00000262406:p.Ala391Thr					RGS9_ENST00000262406.9_Missense_Mutation_p.A391T|RGS9_ENST00000443584.3_Missense_Mutation_p.A388T	p.A388T	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN			15	1234	+			391			RGS.		A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Missense_Mutation	SNP	ENST00000262406.9	37	c.1162G>A	CCDS42373.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245156	0.59103	.	.	ENSG00000108370	ENST00000262406;ENST00000449996	T;T	0.02552	4.25;4.25	5.78	5.78	0.91487	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	T	0.30916	0.0780	H	0.98199	4.17	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.53457	-0.8436	10	0.87932	D	0	.	20.0124	0.97464	0.0:0.0:1.0:0.0	.	391;391;388	A8K1G1;O75916;O75916-5	.;RGS9_HUMAN;.	T	391;388	ENSP00000262406:A391T;ENSP00000396329:A388T	ENSP00000262406:A391T	A	+	1	0	RGS9	60630849	1.000000	0.71417	0.236000	0.24074	0.741000	0.42261	9.669000	0.98622	2.749000	0.94314	0.655000	0.94253	GCA		0.562	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445885.1	NM_003835		4	115	0	0	0	1	0	4	115				
PADI2	11240	broad.mit.edu	37	1	17402181	17402181	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr1:17402181C>T	ENST00000375486.4	-	12	1511	c.1448G>A	c.(1447-1449)gGc>gAc	p.G483D	PADI2_ENST00000444885.2_Missense_Mutation_p.G367D|PADI2_ENST00000466151.1_5'UTR	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	483					chromatin-mediated maintenance of transcription (GO:0048096)|histone H3-R26 citrullination (GO:0036413)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of lymphocyte chemotaxis (GO:1901624)|protein citrullination (GO:0018101)|regulation of chromatin disassembly (GO:0010848)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptionally active chromatin (GO:0035327)	calcium ion binding (GO:0005509)|estrogen receptor binding (GO:0030331)|protein-arginine deiminase activity (GO:0004668)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	TACCTTTGTGCCGGGGATGGG	0.587											OREG0013145	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000375486.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29						c.(1447-1449)gGc>gAc		peptidyl arginine deiminase, type II	L-Citrulline(DB00155)						76.0	78.0	77.0					1																	17402181		2203	4300	6503	SO:0001583	missense	11240				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17402181C>T	AB030176	CCDS177.1	1p35.2-p35.1	2008-02-05			ENSG00000117115	ENSG00000117115	3.5.3.15	"""Peptidyl arginine deiminases"""	18341	protein-coding gene	gene with protein product		607935				2768262	Standard	NM_007365		Approved	KIAA0994, PDI2	uc001baf.3	Q9Y2J8	OTTHUMG00000002295	ENST00000375486.4:c.1448G>A	1.37:g.17402181C>T	ENSP00000364635:p.Gly483Asp		OREG0013145	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	717	PADI2_ENST00000444885.2_Missense_Mutation_p.G367D|PADI2_ENST00000466151.1_5'UTR	p.G483D	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	12	1511	-		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)	483					Q96DA7|Q9UPN2	Missense_Mutation	SNP	ENST00000375486.4	37	c.1448G>A	CCDS177.1	.	.	.	.	.	.	.	.	.	.	C	3.637	-0.074386	0.07184	.	.	ENSG00000117115	ENST00000375486;ENST00000444885	T;T	0.18016	2.24;2.24	4.47	3.56	0.40772	Protein-arginine deiminase, C-terminal (1);	0.105878	0.64402	D	0.000006	T	0.04048	0.0113	N	0.01015	-1.05	0.42430	D	0.992672	B;B	0.15930	0.015;0.0	B;B	0.19946	0.027;0.001	T	0.31081	-0.9956	10	0.02654	T	1	-22.98	6.2889	0.21049	0.0:0.7163:0.0:0.2837	.	367;483	B4DIU3;Q9Y2J8	.;PADI2_HUMAN	D	483;367	ENSP00000364635:G483D;ENSP00000405894:G367D	ENSP00000364635:G483D	G	-	2	0	PADI2	17274768	0.997000	0.39634	1.000000	0.80357	0.958000	0.62258	1.015000	0.29963	1.255000	0.44051	0.655000	0.94253	GGC		0.587	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006624.1			5	199	0	0	0	1	0	5	199				
SPAG17	200162	broad.mit.edu	37	1	118523986	118523986	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr1:118523986T>C	ENST00000336338.5	-	43	5976	c.5911A>G	c.(5911-5913)Agt>Ggt	p.S1971G	SPAG17_ENST00000492438.1_5'UTR	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1971						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTAGGCACACTTGAGGATTTC	0.343																																						ENST00000336338.5																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(5911-5913)Agt>Ggt		sperm associated antigen 17							108.0	107.0	107.0					1																	118523986		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118523986T>C		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.5911A>G	1.37:g.118523986T>C	ENSP00000337804:p.Ser1971Gly					SPAG17_ENST00000492438.1_5'UTR	p.S1971G	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	43	5976	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	1971					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.5911A>G	CCDS899.1	.	.	.	.	.	.	.	.	.	.	T	5.100	0.204164	0.09704	.	.	ENSG00000155761	ENST00000336338;ENST00000437255	T	0.19105	2.17	4.85	0.449	0.16619	.	2.393730	0.01166	N	0.006753	T	0.04272	0.0118	L	0.34521	1.04	0.09310	N	1	B	0.16166	0.016	B	0.16722	0.016	T	0.22034	-1.0228	10	0.13470	T	0.59	.	3.6505	0.08201	0.0:0.2414:0.2164:0.5423	.	1971	Q6Q759	SPG17_HUMAN	G	1971;451	ENSP00000337804:S1971G	ENSP00000337804:S1971G	S	-	1	0	SPAG17	118325509	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.161000	0.16481	-0.095000	0.12351	-0.321000	0.08615	AGT		0.343	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		30	179	0	0	0	1	0	30	179				
FOXJ2	55810	broad.mit.edu	37	12	8200512	8200512	+	Silent	SNP	G	G	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr12:8200512G>A	ENST00000162391.3	+	7	1997	c.852G>A	c.(850-852)tcG>tcA	p.S284S	FOXJ2_ENST00000428177.2_Silent_p.S284S	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	284					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		TCCCACCCTCGAACAACTACT	0.567																																						ENST00000162391.3																			0				autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16						c.(850-852)tcG>tcA		forkhead box J2							45.0	51.0	49.0					12																	8200512		2203	4300	6503	SO:0001819	synonymous_variant	55810				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr12:8200512G>A	AF155132	CCDS8587.1	12p13.31	2006-12-15				ENSG00000065970		"""Forkhead boxes"""	24818	protein-coding gene	gene with protein product						10777590, 10966786	Standard	NM_018416		Approved	FHX	uc001qtu.3	Q9P0K8		ENST00000162391.3:c.852G>A	12.37:g.8200512G>A						FOXJ2_ENST00000428177.2_Silent_p.S284S	p.S284S	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN		Kidney(36;0.0944)	7	1997	+			284					A0AVK4|B2RMP3|Q96PS9|Q9NSN5	Silent	SNP	ENST00000162391.3	37	c.852G>A	CCDS8587.1																																																																																				0.567	FOXJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400088.1	NM_018416		9	88	0	0	0	1	0	9	88				
COCH	1690	broad.mit.edu	37	14	31348670	31348670	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr14:31348670T>C	ENST00000396618.3	+	6	471	c.415T>C	c.(415-417)Tcc>Ccc	p.S139P	COCH_ENST00000460581.2_Missense_Mutation_p.S27P|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000216361.4_Missense_Mutation_p.S139P|COCH_ENST00000382493.4_5'Flank|COCH_ENST00000475087.1_Missense_Mutation_p.S139P	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin	139					defense response to bacterium (GO:0042742)|positive regulation of innate immune response (GO:0045089)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		ACAAGCAGTGTCCACAGCACA	0.393																																						ENST00000460581.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19						c.(79-81)Tcc>Ccc		cochlin							98.0	91.0	93.0					14																	31348670		2203	4300	6503	SO:0001583	missense	1690				sensory perception of sound	proteinaceous extracellular matrix		g.chr14:31348670T>C		CCDS9640.1	14q11.2-q13	2013-05-01	2013-05-01		ENSG00000100473	ENSG00000100473			2180	protein-coding gene	gene with protein product		603196	"""coagulation factor C (Limulus polyphemus homolog); cochlin"", ""coagulation factor C homolog, cochlin (Limulus polyphemus)"""	DFNA31, DFNA9		9806553	Standard	NM_004086		Approved	COCH-5B2	uc001wqp.2	O43405	OTTHUMG00000029432	ENST00000396618.3:c.415T>C	14.37:g.31348670T>C	ENSP00000379862:p.Ser139Pro					RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000475087.1_Missense_Mutation_p.S139P|COCH_ENST00000396618.3_Missense_Mutation_p.S139P|COCH_ENST00000216361.4_Missense_Mutation_p.S139P	p.S27P			O43405	COCH_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)	4	625	+	Hepatocellular(127;0.0877)|Breast(36;0.148)		139					A8K9K9|D3DS84|Q96IU6	Missense_Mutation	SNP	ENST00000396618.3	37	c.79T>C	CCDS9640.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.024040	0.75390	.	.	ENSG00000100473	ENST00000216361;ENST00000396618;ENST00000475087;ENST00000556908;ENST00000460581;ENST00000542225	T;T;T;T;T	0.78707	-0.19;-0.19;-0.19;-1.2;-0.04	5.74	4.53	0.55603	.	0.464465	0.24481	N	0.038142	T	0.62344	0.2420	N	0.19112	0.55	0.80722	D	1	B;B	0.34214	0.442;0.261	B;B	0.31869	0.137;0.07	T	0.63902	-0.6532	10	0.40728	T	0.16	-14.3469	11.0303	0.47769	0.0:0.0:0.2431:0.7569	.	139;139	Q96IU6;O43405	.;COCH_HUMAN	P	139;139;139;123;27;27	ENSP00000216361:S139P;ENSP00000379862:S139P;ENSP00000451528:S139P;ENSP00000452541:S123P;ENSP00000451713:S27P	ENSP00000216361:S139P	S	+	1	0	COCH	30418421	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.292000	0.43549	2.182000	0.69389	0.482000	0.46254	TCC		0.393	COCH-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276608.1	NM_004086		44	129	0	0	0	1	0	44	129				
OR5A1	219982	broad.mit.edu	37	11	59211549	59211549	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr11:59211549C>T	ENST00000302030.2	+	1	933	c.908C>T	c.(907-909)gCc>gTc	p.A303V		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	303						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						ATCAAGGATGCCCTGTGGAAG	0.428																																						ENST00000302030.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						c.(907-909)gCc>gTc		olfactory receptor, family 5, subfamily A, member 1							171.0	169.0	170.0					11																	59211549		2201	4295	6496	SO:0001583	missense	219982				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59211549C>T	AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"""GPCR / Class A : Olfactory receptors"""	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.908C>T	11.37:g.59211549C>T	ENSP00000303096:p.Ala303Val						p.A303V	NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN			1	933	+			303					B9EH58|Q6IFF2|Q96RB1	Missense_Mutation	SNP	ENST00000302030.2	37	c.908C>T	CCDS31561.1	.	.	.	.	.	.	.	.	.	.	C	13.63	2.293788	0.40594	.	.	ENSG00000172320	ENST00000302030	T	0.44881	0.91	5.98	5.07	0.68467	.	0.120313	0.37304	N	0.002150	T	0.63486	0.2515	M	0.87097	2.86	0.09310	N	1	D	0.58268	0.982	P	0.56434	0.798	T	0.63413	-0.6643	10	0.72032	D	0.01	-25.0538	13.9422	0.64062	0.0:0.9271:0.0:0.0729	.	303	Q8NGJ0	OR5A1_HUMAN	V	303	ENSP00000303096:A303V	ENSP00000303096:A303V	A	+	2	0	OR5A1	58968125	0.977000	0.34250	0.031000	0.17742	0.418000	0.31294	6.411000	0.73298	1.545000	0.49373	-0.142000	0.14014	GCC		0.428	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728		5	306	0	0	0	1	0	5	306				
SLIT3	6586	broad.mit.edu	37	5	168112756	168112756	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr5:168112756C>T	ENST00000519560.1	-	31	3910	c.3491G>A	c.(3490-3492)gGc>gAc	p.G1164D	SLIT3_ENST00000332966.8_Missense_Mutation_p.G1171D|SLIT3_ENST00000404867.3_Missense_Mutation_p.G1164D	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1164	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGAGTCTTTGCCCACGAAGTT	0.662																																					Ovarian(29;311 847 10864 17279 24903)	ENST00000519560.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(3490-3492)gGc>gAc		slit homolog 3 (Drosophila)							74.0	75.0	74.0					5																	168112756		2203	4300	6503	SO:0001583	missense	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168112756C>T	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.3491G>A	5.37:g.168112756C>T	ENSP00000430333:p.Gly1164Asp					SLIT3_ENST00000332966.8_Missense_Mutation_p.G1171D|SLIT3_ENST00000404867.3_Missense_Mutation_p.G1164D	p.G1164D	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		31	3910	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1164			Laminin G-like.		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	c.3491G>A	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	C	5.467	0.271190	0.10349	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.55413	0.52;0.52;0.52	4.76	4.76	0.60689	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.85682	D	0.000000	T	0.28001	0.0690	N	0.03608	-0.345	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.27262	-1.0079	10	0.02654	T	1	.	18.1261	0.89586	0.0:1.0:0.0:0.0	.	1164	O75094	SLIT3_HUMAN	D	1164;1171;1164	ENSP00000430333:G1164D;ENSP00000332164:G1171D;ENSP00000384890:G1164D	ENSP00000332164:G1171D	G	-	2	0	SLIT3	168045334	0.995000	0.38212	1.000000	0.80357	0.966000	0.64601	2.073000	0.41519	2.349000	0.79799	0.561000	0.74099	GGC		0.662	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		4	111	0	0	0	1	0	4	111				
ZDBF2	57683	broad.mit.edu	37	2	207169636	207169636	+	Silent	SNP	G	G	A	rs143619911	byFrequency	TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr2:207169636G>A	ENST00000374423.3	+	5	770	c.384G>A	c.(382-384)acG>acA	p.T128T		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	128							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.T128T(1)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AGGAAGGCACGCAGGAGGTTT	0.453													G|||	5	0.000998403	0.0038	0.0	5008	,	,		18580	0.0		0.0	False		,,,				2504	0.0					ENST00000374423.3																			1	Substitution - coding silent(1)	p.T128T(1)	breast(1)	endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(382-384)acG>acA		zinc finger, DBF-type containing 2		G		5,3807		0,5,1901	64.0	61.0	62.0		384	-4.3	0.0	2	dbSNP_134	62	0,8256		0,0,4128	no	coding-synonymous	ZDBF2	NM_020923.1		0,5,6029	AA,AG,GG		0.0,0.1312,0.0414		128/2355	207169636	5,12063	1906	4128	6034	SO:0001819	synonymous_variant	57683						nucleic acid binding|zinc ion binding	g.chr2:207169636G>A	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.384G>A	2.37:g.207169636G>A							p.T128T	NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN			5	770	+			128					Q6ZNP7|Q6ZSN8	Silent	SNP	ENST00000374423.3	37	c.384G>A	CCDS46501.1																																																																																				0.453	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		12	62	0	0	0	1	0	12	62				
DCP1B	196513	broad.mit.edu	37	12	2062350	2062350	+	Missense_Mutation	SNP	C	C	G	rs570843986	byFrequency	TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr12:2062350C>G	ENST00000280665.6	-	7	835	c.756G>C	c.(754-756)caG>caC	p.Q252H	DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H|DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	252	Poly-Gln.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)	p.Q252H(8)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAG	0.552													C|||	2	0.000399361	0.0	0.0	5008	,	,		14619	0.002		0.0	False		,,,				2504	0.0					ENST00000280665.6																			8	Substitution - Missense(8)	p.Q252H(8)	endometrium(5)|lung(2)|large_intestine(1)	NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24						c.(754-756)caG>caC		decapping mRNA 1B							35.0	42.0	40.0					12																	2062350		2203	4300	6503	SO:0001583	missense	196513				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	g.chr12:2062350C>G	AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"""DCP1 decapping enzyme homolog B (S. cerevisiae)"""			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.756G>C	12.37:g.2062350C>G	ENSP00000280665:p.Gln252His					DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H	p.Q252H	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00193)		7	835	-			252			Poly-Gln.		B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Missense_Mutation	SNP	ENST00000280665.6	37	c.756G>C	CCDS31727.1	.	.	.	.	.	.	.	.	.	.	C	0.027	-1.361713	0.01235	.	.	ENSG00000151065	ENST00000280665;ENST00000397173;ENST00000540622	T;T;T	0.19250	2.19;2.17;2.16	4.04	-8.09	0.01090	.	1.568620	0.03045	N	0.153823	T	0.13072	0.0317	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15694	-1.0428	10	0.17369	T	0.5	.	12.662	0.56820	0.0881:0.1213:0.7178:0.0728	.	150;252	B4DRD1;Q8IZD4	.;DCP1B_HUMAN	H	252;150;126	ENSP00000280665:Q252H;ENSP00000380358:Q150H;ENSP00000444374:Q126H	ENSP00000280665:Q252H	Q	-	3	2	DCP1B	1932611	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.268000	0.02836	-2.090000	0.00859	-2.175000	0.00321	CAG		0.552	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640		4	32	0	0	0	1	0	4	32				
TRABD	80305	broad.mit.edu	37	22	50636413	50636413	+	Missense_Mutation	SNP	G	G	A	rs375342223		TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr22:50636413G>A	ENST00000303434.4	+	8	952	c.833G>A	c.(832-834)cGg>cAg	p.R278Q	TRABD_ENST00000395827.1_Missense_Mutation_p.R278Q|TRABD_ENST00000380909.4_Missense_Mutation_p.R278Q|TRABD_ENST00000395829.1_Missense_Mutation_p.R278Q|SELO_ENST00000380903.2_5'Flank|RP3-402G11.26_ENST00000608025.1_RNA	NM_025204.2	NP_079480.2	Q9H4I3	TRABD_HUMAN	TraB domain containing	278										breast(1)|central_nervous_system(1)|large_intestine(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	7		all_cancers(38;1.07e-07)|all_epithelial(38;9.6e-07)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		LUAD - Lung adenocarcinoma(64;0.105)		GAGCTGCCTCGGGCCTCTGAC	0.697													G|||	1	0.000199681	0.0	0.0	5008	,	,		10387	0.0		0.0	False		,,,				2504	0.001					ENST00000303434.4																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	7						c.(832-834)cGg>cAg		TraB domain containing		G	GLN/ARG	0,4402		0,0,2201	55.0	52.0	53.0		833	4.9	0.0	22		53	1,8595	1.2+/-3.3	0,1,4297	no	missense	TRABD	NM_025204.2	43	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	278/377	50636413	1,12997	2201	4298	6499	SO:0001583	missense	80305							g.chr22:50636413G>A	AL449244	CCDS14086.1	22q13.33	2006-07-06			ENSG00000170638	ENSG00000170638			28805	protein-coding gene	gene with protein product						12477932	Standard	NM_025204		Approved	PP2447	uc003bjs.1	Q9H4I3	OTTHUMG00000044644	ENST00000303434.4:c.833G>A	22.37:g.50636413G>A	ENSP00000305664:p.Arg278Gln					TRABD_ENST00000395827.1_Missense_Mutation_p.R278Q|TRABD_ENST00000395829.1_Missense_Mutation_p.R278Q|TRABD_ENST00000380909.4_Missense_Mutation_p.R278Q	p.R278Q	NM_025204.2	NP_079480.2	Q9H4I3	TRABD_HUMAN		LUAD - Lung adenocarcinoma(64;0.105)	8	952	+		all_cancers(38;1.07e-07)|all_epithelial(38;9.6e-07)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)	278					Q19CC5|Q96ED8|Q9H7N1|Q9UGX6|Q9UGX7	Missense_Mutation	SNP	ENST00000303434.4	37	c.833G>A	CCDS14086.1	.	.	.	.	.	.	.	.	.	.	G	9.292	1.050821	0.19827	0.0	1.16E-4	ENSG00000170638	ENST00000380909;ENST00000303434;ENST00000395827;ENST00000395829	.	.	.	4.95	4.95	0.65309	.	0.249082	0.42420	D	0.000711	T	0.37156	0.0993	L	0.40543	1.245	0.33320	D	0.567235	D;P	0.58620	0.983;0.589	B;B	0.38880	0.284;0.058	T	0.49031	-0.8981	9	0.13853	T	0.58	-21.2873	18.1891	0.89802	0.0:0.0:1.0:0.0	.	232;278	Q9H4I3-2;Q9H4I3	.;TRABD_HUMAN	Q	278	.	ENSP00000305664:R278Q	R	+	2	0	TRABD	48978540	1.000000	0.71417	0.041000	0.18516	0.026000	0.11368	4.905000	0.63286	2.287000	0.76781	0.561000	0.74099	CGG		0.697	TRABD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316987.1	NM_025204		35	58	0	0	0	1	0	35	58				
CEP135	9662	broad.mit.edu	37	4	56823426	56823426	+	Silent	SNP	T	T	C			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr4:56823426T>C	ENST00000257287.4	+	5	634	c.510T>C	c.(508-510)cgT>cgC	p.R170R	CEP135_ENST00000422247.2_Silent_p.R170R	NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	170					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					GGCGCCAGCGTATGCAAATTG	0.398																																						ENST00000257287.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50						c.(508-510)cgT>cgC		centrosomal protein 135kDa							130.0	129.0	129.0					4																	56823426		2203	4300	6503	SO:0001819	synonymous_variant	9662				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	g.chr4:56823426T>C	AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"""KIAA0635"", ""centrosomal protein 4"""	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.510T>C	4.37:g.56823426T>C						CEP135_ENST00000422247.2_Silent_p.R170R	p.R170R	NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN			5	634	+	Glioma(25;0.08)|all_neural(26;0.101)		170					B2RMY0|O75130|Q58F25|Q9H8H7	Silent	SNP	ENST00000257287.4	37	c.510T>C	CCDS33986.1																																																																																				0.398	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009		4	271	0	0	0	1	0	4	271				
RBM33	155435	broad.mit.edu	37	7	155530752	155530752	+	Splice_Site	SNP	A	A	G			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr7:155530752A>G	ENST00000401878.3	+	11	1591		c.e11-1			NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33								nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		GTTACCTTTCAGTTTCAGGTG	0.468																																						ENST00000401878.3																			0				breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27						c.e11-1		RNA binding motif protein 33							104.0	104.0	104.0					7																	155530752		1932	4154	6086	SO:0001630	splice_region_variant	155435						nucleotide binding|RNA binding	g.chr7:155530752A>G	AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"""RNA binding motif (RRM) containing"""	27223	protein-coding gene	gene with protein product			"""proline rich 8"""	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.1394-1A>G	7.37:g.155530752A>G								NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)	11	1591	+	all_neural(206;0.101)	all_hematologic(28;0.0592)						A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Splice_Site	SNP	ENST00000401878.3	37		CCDS5941.2	.	.	.	.	.	.	.	.	.	.	A	3.953	-0.011808	0.07727	.	.	ENSG00000184863	ENST00000401878;ENST00000392761	.	.	.	5.16	2.7	0.31948	.	.	.	.	.	.	.	.	.	.	.	0.18873	N	0.999989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.3277	0.04227	0.4957:0.2715:0.1019:0.1309	.	.	.	.	.	-1	.	.	.	+	.	.	RBM33	155223513	0.989000	0.36119	0.539000	0.28077	0.058000	0.15608	0.712000	0.25779	0.263000	0.21812	0.482000	0.46254	.		0.468	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317225.3	NM_001008408	Intron	38	136	0	0	0	1	0	38	136				
MID2	11043	broad.mit.edu	37	X	107084365	107084365	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chrX:107084365G>A	ENST00000262843.6	+	2	1018	c.470G>A	c.(469-471)tGt>tAt	p.C157Y	MID2_ENST00000443968.2_Missense_Mutation_p.C157Y	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	157					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein localization to microtubule (GO:0035372)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						TGCATCACCTGTGAGGTCTCC	0.562																																						ENST00000262843.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						c.(469-471)tGt>tAt		midline 2							53.0	46.0	49.0					X																	107084365		2203	4300	6503	SO:0001583	missense	11043					centrosome|microtubule	ligase activity|zinc ion binding	g.chrX:107084365G>A		CCDS14532.2, CCDS14533.2	Xq22.1-q22.2	2013-02-11			ENSG00000080561	ENSG00000080561		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7096	protein-coding gene	gene with protein product		300204				10400986	Standard	NM_012216		Approved	FXY2, TRIM1, RNF60	uc004enl.3	Q9UJV3	OTTHUMG00000022171	ENST00000262843.6:c.470G>A	X.37:g.107084365G>A	ENSP00000262843:p.Cys157Tyr					MID2_ENST00000443968.2_Missense_Mutation_p.C157Y	p.C157Y	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN			2	1018	+			157					A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Missense_Mutation	SNP	ENST00000262843.6	37	c.470G>A	CCDS14532.2	.	.	.	.	.	.	.	.	.	.	G	19.24	3.789193	0.70337	.	.	ENSG00000080561	ENST00000451923;ENST00000262843;ENST00000443968	D;D;D	0.96073	-3.9;-3.9;-3.9	5.94	5.94	0.96194	Zinc finger, B-box (1);	0.000000	0.85682	D	0.000000	D	0.98532	0.9510	H	0.96269	3.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.99651	1.0991	10	0.87932	D	0	.	16.5117	0.84287	0.0:0.0:1.0:0.0	.	157;157	Q9UJV3;Q9UJV3-2	TRIM1_HUMAN;.	Y	137;157;157	ENSP00000410730:C137Y;ENSP00000262843:C157Y;ENSP00000413976:C157Y	ENSP00000262843:C157Y	C	+	2	0	MID2	106971021	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.506000	0.84524	0.600000	0.82982	TGT		0.562	MID2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057852.2	NM_012216		20	26	0	0	0	1	0	20	26				
RYR3	6263	broad.mit.edu	37	15	34130251	34130251	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr15:34130251T>C	ENST00000389232.4	+	89	12140	c.12070T>C	c.(12070-12072)Tac>Cac	p.Y4024H	RYR3_ENST00000415757.3_Missense_Mutation_p.Y4019H	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4024					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGTGCTAAATTACTTCGAACC	0.468																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(12070-12072)Tac>Cac		ryanodine receptor 3							116.0	115.0	115.0					15																	34130251		1943	4149	6092	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34130251T>C		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.12070T>C	15.37:g.34130251T>C	ENSP00000373884:p.Tyr4024His					RYR3_ENST00000415757.3_Missense_Mutation_p.Y4019H	p.Y4024H	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	89	12140	+		all_lung(180;7.18e-09)	4024					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.12070T>C	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	T	17.32	3.358983	0.61403	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.98044	-4.68	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.98463	0.9488	M	0.75615	2.305	0.58432	D	0.999992	D;D	0.89917	0.971;1.0	D;D	0.91635	0.968;0.999	D	0.99560	1.0968	10	0.66056	D	0.02	.	15.0733	0.72056	0.0:0.0:0.0:1.0	.	4019;4024	Q15413-2;Q15413	.;RYR3_HUMAN	H	4024;4020	ENSP00000373884:Y4024H	ENSP00000354735:Y4020H	Y	+	1	0	RYR3	31917543	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	7.769000	0.85360	2.140000	0.66376	0.450000	0.29827	TAC		0.468	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			74	198	0	0	0	1	0	74	198				
FOXK2	3607	broad.mit.edu	37	17	80544072	80544072	+	Silent	SNP	C	C	G	rs111240743		TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr17:80544072C>G	ENST00000335255.5	+	7	1746	c.1572C>G	c.(1570-1572)gtC>gtG	p.V524V	RP13-638C3.3_ENST00000575085.1_RNA	NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	524					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			ACAGGGAAGTCAAAGGTAGGC	0.632																																						ENST00000335255.5																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17						c.(1570-1572)gtC>gtG		forkhead box K2							14.0	16.0	15.0					17																	80544072		2181	4275	6456	SO:0001819	synonymous_variant	3607				embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr17:80544072C>G	U58196	CCDS11813.1	17q25	2006-12-15	2004-03-09	2004-03-10	ENSG00000141568	ENSG00000141568		"""Forkhead boxes"""	6036	protein-coding gene	gene with protein product		147685	"""interleukin enhancer binding factor 1"""	ILF, ILF1		3260003	Standard	NM_004514		Approved		uc002kfn.3	Q01167	OTTHUMG00000140374	ENST00000335255.5:c.1572C>G	17.37:g.80544072C>G							p.V524V	NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)		7	1746	+	Breast(20;0.00106)|all_neural(118;0.0952)		524					A6NEP5|Q13622|Q13623|Q13624	Silent	SNP	ENST00000335255.5	37	c.1572C>G	CCDS11813.1																																																																																				0.632	FOXK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277099.2	NM_181430		3	42	0	0	0	1	0	3	42				
KIFC3	3801	broad.mit.edu	37	16	57805333	57805333	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr16:57805333C>T	ENST00000379655.4	-	6	799	c.542G>A	c.(541-543)cGt>cAt	p.R181H	KIFC3_ENST00000445690.2_Missense_Mutation_p.R181H|KIFC3_ENST00000465878.2_Missense_Mutation_p.R42H|KIFC3_ENST00000543930.1_Missense_Mutation_p.R42H|KIFC3_ENST00000539578.1_Missense_Mutation_p.R123H|KIFC3_ENST00000562903.1_Missense_Mutation_p.R42H|KIFC3_ENST00000541240.1_Missense_Mutation_p.R203H|KIFC3_ENST00000540079.2_Missense_Mutation_p.R79H|KIFC3_ENST00000421376.2_Missense_Mutation_p.R42H|KIFC3_ENST00000566975.1_5'Flank	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	181					ATP catabolic process (GO:0006200)|epithelial cell-cell adhesion (GO:0090136)|Golgi organization (GO:0007030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|visual perception (GO:0007601)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|zonula adherens (GO:0005915)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				CAGCTTGTCACGGAGCTGGGC	0.627																																						ENST00000379655.4																			0				breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(541-543)cGt>cAt		kinesin family member C3							118.0	117.0	117.0					16																	57805333		2198	4300	6498	SO:0001583	missense	3801				epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity	g.chr16:57805333C>T	BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859		"""Kinesins"""	6326	protein-coding gene	gene with protein product		604535				9782090	Standard	NM_001130099		Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455	ENST00000379655.4:c.542G>A	16.37:g.57805333C>T	ENSP00000368976:p.Arg181His					KIFC3_ENST00000540079.2_Missense_Mutation_p.R79H|KIFC3_ENST00000539578.1_Missense_Mutation_p.R123H|KIFC3_ENST00000562903.1_Missense_Mutation_p.R42H|KIFC3_ENST00000543930.1_Missense_Mutation_p.R42H|KIFC3_ENST00000465878.2_Missense_Mutation_p.R42H|KIFC3_ENST00000445690.2_Missense_Mutation_p.R181H|KIFC3_ENST00000421376.2_Missense_Mutation_p.R42H|KIFC3_ENST00000541240.1_Missense_Mutation_p.R203H	p.R181H	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN			6	799	-		all_neural(199;0.224)	181					A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Missense_Mutation	SNP	ENST00000379655.4	37	c.542G>A	CCDS10789.2	.	.	.	.	.	.	.	.	.	.	C	15.60	2.880608	0.51801	.	.	ENSG00000140859	ENST00000379655;ENST00000445690;ENST00000421376;ENST00000541240;ENST00000540079;ENST00000543930;ENST00000539578	T;T;T;T;T;T;T	0.76316	-0.95;-0.94;-0.91;-0.96;-0.92;-1.01;-0.95	5.09	5.09	0.68999	.	0.191898	0.41097	D	0.000956	T	0.75221	0.3820	L	0.50333	1.59	0.41894	D	0.990383	D;D;P;D;D;D	0.60575	0.971;0.983;0.947;0.969;0.971;0.988	P;P;B;P;P;P	0.47786	0.474;0.497;0.306;0.503;0.474;0.557	T	0.78329	-0.2246	10	0.72032	D	0.01	.	9.6958	0.40156	0.0:0.9049:0.0:0.0951	.	203;123;42;79;181;42	B7Z484;F5H4I9;B7Z896;F5H3M2;Q9BVG8;A8K6S2	.;.;.;.;KIFC3_HUMAN;.	H	181;181;42;203;79;42;123	ENSP00000368976:R181H;ENSP00000401696:R181H;ENSP00000396399:R42H;ENSP00000442008:R203H;ENSP00000438805:R79H;ENSP00000444012:R42H;ENSP00000444884:R123H	ENSP00000368976:R181H	R	-	2	0	KIFC3	56362834	0.974000	0.33945	0.934000	0.37439	0.939000	0.58152	2.169000	0.42434	2.379000	0.81126	0.655000	0.94253	CGT		0.627	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257329.2	NM_005550		6	397	0	0	0	1	0	6	397				
NAT10	55226	broad.mit.edu	37	11	34152413	34152413	+	Missense_Mutation	SNP	A	A	C	rs147641652		TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr11:34152413A>C	ENST00000257829.3	+	13	1504	c.1298A>C	c.(1297-1299)cAa>cCa	p.Q433P	NAT10_ENST00000531159.2_Missense_Mutation_p.Q361P|NAT10_ENST00000527971.1_Intron	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	433						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				CAGCTCCGTCAACAGAGCGCC	0.567																																						ENST00000257829.3																			0				endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1297-1299)cAa>cCa		N-acetyltransferase 10 (GCN5-related)							110.0	100.0	103.0					11																	34152413		2202	4298	6500	SO:0001583	missense	55226					nucleolus	ATP binding|N-acetyltransferase activity|protein binding	g.chr11:34152413A>C	AF489535	CCDS7889.1, CCDS44568.1	11p13	2011-11-16	2008-09-24		ENSG00000135372	ENSG00000135372	2.3.1.-		29830	protein-coding gene	gene with protein product		609221	"""N-acetyltransferase 10"""			14592445, 21177859	Standard	NM_024662		Approved	hALP, FLJ10774, FLJ12179, NET43, KIAA1709	uc001mvk.3	Q9H0A0	OTTHUMG00000166249	ENST00000257829.3:c.1298A>C	11.37:g.34152413A>C	ENSP00000257829:p.Gln433Pro					NAT10_ENST00000531159.2_Missense_Mutation_p.Q361P|NAT10_ENST00000527971.1_Intron	p.Q433P	NM_024662.2	NP_078938.2	Q9H0A0	NAT10_HUMAN			13	1504	+		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)	433					B4DFD5|E7ESU4|E9PMN9|Q86WK5|Q9C0F4|Q9HA61|Q9NVF2	Missense_Mutation	SNP	ENST00000257829.3	37	c.1298A>C	CCDS7889.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.752349	0.89753	.	.	ENSG00000135372	ENST00000257829;ENST00000531159	T;T	0.45276	0.9;0.9	5.53	5.53	0.82687	Domain of unknown function DUF699, exodeoxyribonuclease V alpha chain (1);	0.000000	0.85682	D	0.000000	T	0.54549	0.1865	M	0.66939	2.045	0.80722	D	1	P	0.48089	0.905	P	0.51266	0.664	T	0.58973	-0.7541	10	0.66056	D	0.02	-18.0062	15.9566	0.79891	1.0:0.0:0.0:0.0	.	433	Q9H0A0	NAT10_HUMAN	P	433;361	ENSP00000257829:Q433P;ENSP00000433011:Q361P	ENSP00000257829:Q433P	Q	+	2	0	NAT10	34108989	1.000000	0.71417	0.955000	0.39395	0.997000	0.91878	9.030000	0.93725	2.231000	0.72958	0.459000	0.35465	CAA		0.567	NAT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388693.1	NM_024662		34	127	0	0	0	1	0	34	127				
CROCC	9696	broad.mit.edu	37	1	17185383	17185384	+	lincRNA	INS	-	-	C	rs112074527		TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr1:17185383_17185384insC	ENST00000414128.1	+	0	646				MIR3675_ENST00000583661.1_RNA																							ACTAAATTTTTAGTGCAATAAT	0.465																																						ENST00000414128.1																			0																																																			0							g.chr1:17185383_17185384insC																													1.37:g.17185383_17185384insC														0	646	+									RNA	INS	ENST00000414128.1	37																																																																																						0.465	RP11-108M9.2-001	KNOWN	not_best_in_genome_evidence|basic	lincRNA	lincRNA	OTTHUMT00000006253.1			3	5						3	5	---	---	---	---
CCDC28B	79140	broad.mit.edu	37	1	32670247	32670248	+	Intron	DEL	TG	TG	-			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr1:32670247_32670248delTG	ENST00000373602.5	+	5	895				RP4-622L5.7_ENST00000421616.1_RNA|RP4-622L5.7_ENST00000373604.4_RNA|CCDC28B_ENST00000421922.2_Frame_Shift_Del_p.C192fs|CCDC28B_ENST00000483009.1_Intron|IQCC_ENST00000291358.6_5'Flank|IQCC_ENST00000537469.1_5'Flank	NM_024296.3	NP_077272.2	Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B						cilium assembly (GO:0042384)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AACCCGTCTATGTGTGTGTGTT	0.5																																						ENST00000421922.2																			0				large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(574-576)tfs		coiled-coil domain containing 28B																																				SO:0001627	intron_variant	79140							g.chr1:32670247_32670248delTG	BC022848	CCDS354.2, CCDS72749.1	1p36.11-p34.2	2008-02-05			ENSG00000160050	ENSG00000160050			28163	protein-coding gene	gene with protein product		610162				16327777	Standard	XM_006710892		Approved	MGC1203, RP4-622L5.5	uc001bul.1	Q9BUN5	OTTHUMG00000005738	ENST00000373602.5:c.548+26TG>-	1.37:g.32670255_32670256delTG						CCDC28B_ENST00000483009.1_Intron|CCDC28B_ENST00000373602.5_Intron	p.C192fs			Q9BUN5	CC28B_HUMAN			5	674_675	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	0					A8K789|Q8TBV8	Frame_Shift_Del	DEL	ENST00000373602.5	37	c.574_575delTG	CCDS354.2																																																																																				0.500	CCDC28B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015723.4	NM_024296		9	533						9	533	---	---	---	---
STAG3L4	64940	broad.mit.edu	37	7	66772495	66772495	+	RNA	DEL	T	T	-			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr7:66772495delT	ENST00000416602.2	+	0	362					NR_040586.1		Q8TBR4	ST3L4_HUMAN	stromal antigen 3-like 4 (pseudogene)											endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				GCTTGATTCCTTTTTTTTTTT	0.423																																						ENST00000416602.2																			0				endometrium(2)|lung(5)	7																																														0							g.chr7:66772495delT			7q11.21	2013-06-26	2013-06-26		ENSG00000106610	ENSG00000106610			33887	pseudogene	pseudogene			"""stromal antigen 3-like 4"""				Standard	NR_040585		Approved	FLJ13195, STAG3L4P	uc010laj.3	Q8TBR4	OTTHUMG00000156920		7.37:g.66772495delT								NR_040586.1		Q8TBR4	STG34_HUMAN			0	362	+		Lung NSC(55;0.0839)|all_lung(88;0.181)						Q9H8W0	RNA	DEL	ENST00000416602.2	37																																																																																						0.423	STAG3L4-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346611.1	NM_022906		5	5						5	5	---	---	---	---
CKAP5	9793	broad.mit.edu	37	11	46789159	46789159	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr11:46789159delT	ENST00000529230.1	-	27	3423	c.3377delA	c.(3376-3378)aagfs	p.K1126fs	CKAP5_ENST00000312055.5_Frame_Shift_Del_p.K1126fs|CKAP5_ENST00000354558.3_Frame_Shift_Del_p.K1126fs|CKAP5_ENST00000415402.1_Frame_Shift_Del_p.K1126fs			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1126					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						AGCTTTGGCCTTTTTTGGATC	0.323																																					Ovarian(4;85 273 2202 4844 13323)	ENST00000529230.1																			0				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(3376-3378)agfs		cytoskeleton associated protein 5							122.0	128.0	126.0					11																	46789159		2201	4299	6500	SO:0001589	frameshift_variant	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding	g.chr11:46789159delT		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.3377delA	11.37:g.46789159delT	ENSP00000432768:p.Lys1126fs					CKAP5_ENST00000354558.3_Frame_Shift_Del_p.K1126fs|CKAP5_ENST00000312055.5_Frame_Shift_Del_p.K1126fs|CKAP5_ENST00000415402.1_Frame_Shift_Del_p.K1126fs	p.K1126fs			Q14008	CKAP5_HUMAN			27	3423	-			1126					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Frame_Shift_Del	DEL	ENST00000529230.1	37	c.3377delA	CCDS31477.1																																																																																				0.323	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		7	308						7	308	---	---	---	---
YLPM1	56252	broad.mit.edu	37	14	75248158	75248159	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr14:75248158_75248159delAT	ENST00000552421.1	+	4	1536_1537	c.1412_1413delAT	c.(1411-1413)catfs	p.H471fs	YLPM1_ENST00000325680.7_Frame_Shift_Del_p.H471fs|YLPM1_ENST00000238571.3_Intron			P49750	YLPM1_HUMAN	YLP motif containing 1	0					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TCCTATCCTCATAAAGATCAGC	0.446																																						ENST00000325680.7																			0				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62						c.(1411-1413)cfs		YLP motif containing 1																																				SO:0001589	frameshift_variant	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75248158_75248159delAT	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.1412_1413delAT	14.37:g.75248158_75248159delAT	ENSP00000447921:p.His471fs					YLPM1_ENST00000238571.3_Intron|YLPM1_ENST00000552421.1_Frame_Shift_Del_p.H471fs	p.H471fs	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	4	1536_1537	+			284					P49752|Q96I64|Q9P1V7	Frame_Shift_Del	DEL	ENST00000552421.1	37	c.1412_1413delAT																																																																																					0.446	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		7	42						7	42	---	---	---	---
HERC2P9	440248	broad.mit.edu	37	15	28900331	28900331	+	RNA	DEL	A	A	-			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr15:28900331delA	ENST00000528584.1	+	0	14					NR_036443.1				hect domain and RLD 2 pseudogene 9																		actctgtctcaaaaaaaaaaa	0.413																																						ENST00000528584.1																			0																																																			0							g.chr15:28900331delA	BC047911		15q13.1	2011-05-24			ENSG00000206149	ENSG00000206149			30495	pseudogene	pseudogene							Standard	NR_036443		Approved	FLJ59185	uc010azc.3		OTTHUMG00000167114		15.37:g.28900331delA								NR_036443.1						0	14	+									RNA	DEL	ENST00000528584.1	37																																																																																						0.413	HERC2P9-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000393268.1	NR_036443		4	9						4	9	---	---	---	---
LOC105371814	105371814	broad.mit.edu	37	17	46977254	46977254	+	RNA	DEL	A	A	-			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr17:46977254delA	ENST00000508743.1	-	0	45																											ctaaaaatgcaaaaaaaaatt	0.502																																						ENST00000508743.1																			0																																																			0							g.chr17:46977254delA																													17.37:g.46977254delA														0	45	-									RNA	DEL	ENST00000508743.1	37																																																																																						0.502	RP11-463M16.4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361072.1			2	4						2	4	---	---	---	---
NDUFV2	4729	broad.mit.edu	37	18	9134225	9134241	+	Frame_Shift_Del	DEL	CTTTGACTGAACCACCC	CTTTGACTGAACCACCC	-			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr18:9134225_9134241delCTTTGACTGAACCACCC	ENST00000318388.6	+	8	812_828	c.698_714delCTTTGACTGAACCACCC	c.(697-714)tctttgactgaaccacccfs	p.SLTEPP233fs	RP11-143J12.2_ENST00000582375.1_RNA|RP11-143J12.2_ENST00000583081.1_RNA|RP11-143J12.2_ENST00000608008.1_RNA|RP11-21J18.1_ENST00000579126.1_RNA|ANKRD12_ENST00000262126.4_5'Flank|NDUFV2_ENST00000400033.1_Frame_Shift_Del_p.SLTEPP236fs|ANKRD12_ENST00000383440.2_5'Flank|NDUFV2_ENST00000465096.1_3'UTR	NM_021074.4	NP_066552.2	P19404	NDUV2_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa	233					cardiac muscle tissue development (GO:0048738)|cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|nervous system development (GO:0007399)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|lung(4)|ovary(1)|stomach(1)	7						GGTCTTACCTCTTTGACTGAACCACCCAAGGGACCTG	0.346																																						ENST00000400033.1																			0				breast(1)|lung(4)|ovary(1)|stomach(1)	7						c.(706-723)tfs		NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa	NADH(DB00157)																																			SO:0001589	frameshift_variant	4729				cardiac muscle tissue development|mitochondrial electron transport, NADH to ubiquinone|nervous system development|transport	mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity	g.chr18:9134225_9134241delCTTTGACTGAACCACCC	X84421	CCDS11842.1	18p11.22	2011-07-04	2002-08-29		ENSG00000178127	ENSG00000178127	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7717	protein-coding gene	gene with protein product	"""complex I 24kDa subunit"", ""NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial"""	600532	"""NADH dehydrogenase (ubiquinone) flavoprotein 2 (24kD)"""			9763677, 7607668	Standard	NM_021074		Approved	CI-24k	uc002knu.3	P19404	OTTHUMG00000131593	ENST00000318388.6:c.698_714delCTTTGACTGAACCACCC	18.37:g.9134225_9134241delCTTTGACTGAACCACCC	ENSP00000327268:p.Ser233fs					RP11-143J12.2_ENST00000582375.1_RNA|RP11-21J18.1_ENST00000579126.1_RNA|NDUFV2_ENST00000318388.6_Frame_Shift_Del_p.SLTEPP233fs|NDUFV2_ENST00000465096.1_3'UTR	p.SLTEPP236fs			P19404	NDUV2_HUMAN			9	824_840	+			233					Q9BV41	Frame_Shift_Del	DEL	ENST00000318388.6	37	c.707_723delCTTTGACTGAACCACCC	CCDS11842.1																																																																																				0.346	NDUFV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254475.2	NM_021074		16	239						16	239	---	---	---	---
CTC-548K16.2	0	broad.mit.edu	37	19	14473564	14473567	+	lincRNA	DEL	GGAA	GGAA	-	rs7507976|rs145512114|rs112094421|rs143051388	byFrequency	TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr19:14473564_14473567delGGAA	ENST00000586698.1	-	0	119																											agaaagagagggaaggaaggaagg	0.436																																						ENST00000586698.1																			0																																																			0							g.chr19:14473564_14473567delGGAA																													19.37:g.14473572_14473575delGGAA														0	119	-									RNA	DEL	ENST00000586698.1	37																																																																																						0.436	CTC-548K16.2-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000459814.1			2	4						2	4	---	---	---	---
NDUFA6-AS1	100132273	broad.mit.edu	37	22	42537119	42537120	+	RNA	INS	-	-	A	rs142656198|rs540642647|rs68023760|rs55861500	byFrequency	TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr22:42537119_42537120insA	ENST00000416037.2	+	0	8970				RP4-669P10.16_ENST00000428786.1_RNA|CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000424775.1_RNA|CYP2D7P1_ENST00000358097.4_RNA	NR_034118.1				NDUFA6 antisense RNA 1 (head to head)																		GGGCTACCACCGGGGCTGATGC	0.614														2230	0.445288	0.202	0.4697	5008	,	,		12179	0.748		0.494	False		,,,				2504	0.3947					ENST00000435101.1																			0				endometrium(1)	1																																														0							g.chr22:42537119_42537120insA	BC039542		22q13.2	2013-03-18	2013-03-18		ENSG00000237037	ENSG00000237037		"""Long non-coding RNAs"""	45273	non-coding RNA	RNA, long non-coding							Standard	NR_034118		Approved		uc003bcd.1		OTTHUMG00000150917		22.37:g.42537119_42537120insA						CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000358097.4_RNA								0	296	-									RNA	INS	ENST00000416037.2	37																																																																																						0.614	NDUFA6-AS1-001	KNOWN	basic|exp_conf	antisense	processed_transcript	OTTHUMT00000320522.4	NR_034118		5	10						5	10	---	---	---	---
