#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	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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"""		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(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	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65.0	56.0	59.0					17																	7577121		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.chr17:7577121G>A	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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	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.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	p.R273C	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	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|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.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	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	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		20	16	0	0	0	1	0	20	16				
TTN	7273	broad.mit.edu	37	2	179436446	179436446	+	Missense_Mutation	SNP	C	C	T	rs371306826		TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr2:179436446C>T	ENST00000591111.1	-	276	69714	c.69490G>A	c.(69490-69492)Gtt>Att	p.V23164I	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V15932I|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V22237I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V15865I|TTN_ENST00000460472.2_Missense_Mutation_p.V15740I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V24805I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23164					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGTCAAGAACGATAACATTA	0.453																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(74413-74415)Gtt>Att		titin		C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	1,3833		0,1,1916	103.0	99.0	101.0		47218,66709,47593,47794	6.1	0.9	2		101	0,8230		0,0,4115	no	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	29,29,29,29	0,1,6031	TT,TC,CC		0.0,0.0261,0.0083	probably-damaging,probably-damaging,probably-damaging,probably-damaging	15740/26927,22237/33424,15865/27052,15932/27119	179436446	1,12063	1917	4115	6032	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179436446C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.69490G>A	2.37:g.179436446C>T	ENSP00000465570:p.Val23164Ile					TTN_ENST00000460472.2_Missense_Mutation_p.V15740I|TTN_ENST00000342992.6_Missense_Mutation_p.V22237I|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V15865I|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V23164I|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V15932I|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA	p.V24805I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	74637	-			23164			Fibronectin type-III 80.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.74413G>A		.	.	.	.	.	.	.	.	.	.	C	15.70	2.911491	0.52439	2.61E-4	0.0	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82	6.07	6.07	0.98685	Immunoglobulin I-set (1);Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.81522	0.4840	L	0.31294	0.92	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.81914	0.995;0.979;0.979;0.995	T	0.82295	-0.0528	9	0.87932	D	0	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	15740;15865;15932;23164	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	22237;15740;15932;15865;15738	ENSP00000343764:V22237I;ENSP00000434586:V15740I;ENSP00000340554:V15932I;ENSP00000352154:V15865I	ENSP00000340554:V15932I	V	-	1	0	TTN	179144692	1.000000	0.71417	0.942000	0.38095	0.911000	0.54048	6.037000	0.70956	2.890000	0.99128	0.650000	0.86243	GTT		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		29	77	0	0	0	1	0	29	77				
RPH3A	22895	broad.mit.edu	37	12	113325686	113325686	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr12:113325686C>A	ENST00000389385.4	+	17	2018	c.1521C>A	c.(1519-1521)aaC>aaA	p.N507K	RPH3A_ENST00000420983.2_Missense_Mutation_p.N507K|RPH3A_ENST00000548866.1_Missense_Mutation_p.N458K|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000543106.2_Missense_Mutation_p.N507K|RPH3A_ENST00000551052.1_Missense_Mutation_p.N503K|RPH3A_ENST00000447659.2_Missense_Mutation_p.N458K|RPH3A_ENST00000415485.3_Missense_Mutation_p.N507K	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	507					intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		TGAAGCCCAACCAGAGGAAGA	0.498																																						ENST00000389385.4																			0				breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47						c.(1519-1521)aaC>aaA		rabphilin 3A homolog (mouse)							157.0	161.0	159.0					12																	113325686		2203	4300	6503	SO:0001583	missense	22895				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding	g.chr12:113325686C>A	AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"""Synaptotagmins"""	17056	protein-coding gene	gene with protein product		612159	"""rabphilin 3A homolog (mouse)"""			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.1521C>A	12.37:g.113325686C>A	ENSP00000374036:p.Asn507Lys					RPH3A_ENST00000447659.2_Missense_Mutation_p.N458K|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000543106.2_Missense_Mutation_p.N507K|RPH3A_ENST00000551052.1_Missense_Mutation_p.N503K|RPH3A_ENST00000548866.1_Missense_Mutation_p.N458K|RPH3A_ENST00000420983.2_Missense_Mutation_p.N507K|RPH3A_ENST00000415485.3_Missense_Mutation_p.N507K	p.N507K	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00453)	17	2018	+			507					B7Z3C3|Q96AE0	Missense_Mutation	SNP	ENST00000389385.4	37	c.1521C>A	CCDS44979.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.173546	0.57584	.	.	ENSG00000089169	ENST00000543106;ENST00000389385;ENST00000447659;ENST00000551052;ENST00000415485;ENST00000548866;ENST00000420983;ENST00000549913	T;T;T;T;T;T;T	0.07800	3.16;3.16;3.16;3.16;3.16;3.16;3.16	5.2	3.03	0.35002	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000010	T	0.12135	0.0295	M	0.74647	2.275	0.58432	D	0.999997	P;P;P;P	0.49447	0.924;0.596;0.596;0.924	B;B;B;B	0.42062	0.374;0.09;0.09;0.374	T	0.11867	-1.0570	10	0.35671	T	0.21	.	11.7582	0.51888	0.0:0.8242:0.0:0.1758	.	458;507;507;503	F8VP47;B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;.;RP3A_HUMAN;.	K	507;507;458;503;507;458;507;159	ENSP00000440384:N507K;ENSP00000374036:N507K;ENSP00000413254:N458K;ENSP00000448297:N503K;ENSP00000405357:N507K;ENSP00000450347:N458K;ENSP00000408889:N507K	ENSP00000374036:N507K	N	+	3	2	RPH3A	111810069	0.919000	0.31177	1.000000	0.80357	0.999000	0.98932	0.077000	0.14738	1.211000	0.43351	0.591000	0.81541	AAC		0.498	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1	NM_014954		6	229	1	0	5.9392e-07	1	6.67018e-07	6	229				
CTCFL	140690	broad.mit.edu	37	20	56094399	56094399	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr20:56094399C>A	ENST00000608263.1	-	3	1450	c.789G>T	c.(787-789)atG>atT	p.M263I	CTCFL_ENST00000433949.3_Missense_Mutation_p.M58I|CTCFL_ENST00000609232.1_Missense_Mutation_p.M263I|CTCFL_ENST00000432255.2_Missense_Mutation_p.M263I|CTCFL_ENST00000539382.1_Missense_Mutation_p.M58I|CTCFL_ENST00000481655.2_Missense_Mutation_p.M263I|CTCFL_ENST00000371196.2_Missense_Mutation_p.M263I|CTCFL_ENST00000429804.3_Missense_Mutation_p.M263I|CTCFL_ENST00000608440.1_Missense_Mutation_p.M263I|CTCFL_ENST00000422869.2_Missense_Mutation_p.M263I|CTCFL_ENST00000608903.1_Start_Codon_SNP_p.M1I|CTCFL_ENST00000608858.1_5'UTR|CTCFL_ENST00000608158.1_Missense_Mutation_p.M263I|CTCFL_ENST00000243914.3_Missense_Mutation_p.M263I|CTCFL_ENST00000502686.2_Start_Codon_SNP_p.M1I|CTCFL_ENST00000423479.3_Missense_Mutation_p.M263I|CTCFL_ENST00000608425.1_Missense_Mutation_p.M263I	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	263					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)	p.M263I(1)		NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			AAGAGGTGAACATGCAGACAT	0.398																																						ENST00000426658.2																			1	Substitution - Missense(1)	p.M263I(1)	lung(1)	NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(787-789)atG>atT		CCCTC-binding factor (zinc finger protein)-like							148.0	134.0	139.0					20																	56094399		2203	4300	6503	SO:0001583	missense	140690				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:56094399C>A		CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.789G>T	20.37:g.56094399C>A	ENSP00000476783:p.Met263Ile					CTCFL_ENST00000429804.2_Missense_Mutation_p.M263I|CTCFL_ENST00000481655.1_5'UTR|CTCFL_ENST00000423479.2_Missense_Mutation_p.M263I|CTCFL_ENST00000422869.2_Missense_Mutation_p.M263I|CTCFL_ENST00000422109.2_Missense_Mutation_p.M263I|CTCFL_ENST00000371196.2_Missense_Mutation_p.M263I|CTCFL_ENST00000243914.3_Missense_Mutation_p.M263I|CTCFL_ENST00000539382.1_Missense_Mutation_p.M58I|CTCFL_ENST00000502686.2_Start_Codon_SNP_p.M1I|CTCFL_ENST00000433949.2_Missense_Mutation_p.M263I|CTCFL_ENST00000432255.2_Missense_Mutation_p.M263I	p.M263I			Q8NI51	CTCFL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)		3	1450	-	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		263					A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Missense_Mutation	SNP	ENST00000608263.1	37	c.789G>T	CCDS13459.1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.029634	0.35797	.	.	ENSG00000124092	ENST00000423479;ENST00000243914;ENST00000371196;ENST00000429804;ENST00000433949;ENST00000502686;ENST00000422109;ENST00000426658;ENST00000432255;ENST00000539382;ENST00000422869	T;T;T;T;T;T;T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64;3.12;1.64;1.64;1.64;1.64;1.64	5.25	-8.38	0.00973	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	3.800050	0.00698	N	0.000772	T	0.15003	0.0362	N	0.17474	0.49	0.09310	N	0.999997	B;B;B;B;B;B;B;B	0.11235	0.004;0.003;0.002;0.004;0.001;0.0;0.004;0.001	B;B;B;B;B;B;B;B	0.12837	0.004;0.008;0.0;0.004;0.001;0.002;0.002;0.002	T	0.16100	-1.0414	10	0.46703	T	0.11	0.9464	2.575	0.04804	0.1582:0.1256:0.2183:0.4979	.	263;263;263;263;263;263;263;263	A6XGM3;A6XGM0;A6XGM9;A6XGM8;A6XGM2;E7EUE3;A6XGL8;Q8NI51	.;.;.;.;.;.;.;CTCFL_HUMAN	I	263;263;263;263;263;1;263;263;263;58;263	ENSP00000415579:M263I;ENSP00000243914:M263I;ENSP00000360239:M263I;ENSP00000415329:M263I;ENSP00000392034:M263I;ENSP00000437999:M1I;ENSP00000413713:M263I;ENSP00000403369:M263I;ENSP00000409344:M263I;ENSP00000439998:M58I;ENSP00000399061:M263I	ENSP00000243914:M263I	M	-	3	0	CTCFL	55527805	0.017000	0.18338	0.001000	0.08648	0.014000	0.08584	0.101000	0.15251	-1.036000	0.03287	-0.229000	0.12294	ATG		0.398	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		4	162	1	0	0.00909568	1	0.00962297	4	162				
CLCA2	9635	broad.mit.edu	37	1	86898153	86898153	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr1:86898153T>A	ENST00000370565.4	+	5	848	c.686T>A	c.(685-687)aTc>aAc	p.I229N		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	229					cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		TGCACCTTTATCTACAATAGC	0.378																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)	ENST00000370565.4																			0				NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42						c.(685-687)aTc>aAc		chloride channel accessory 2							141.0	139.0	139.0					1																	86898153		2203	4300	6503	SO:0001583	missense	9635				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:86898153T>A		CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"""chloride channel, calcium activated, family member 2"", ""chloride channel regulator 2"""				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.686T>A	1.37:g.86898153T>A	ENSP00000359596:p.Ile229Asn						p.I229N	NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN		all cancers(265;0.0233)|Epithelial(280;0.0452)	5	848	+		Lung NSC(277;0.238)	229					A8K2T3|Q9Y6N2	Missense_Mutation	SNP	ENST00000370565.4	37	c.686T>A	CCDS708.1	.	.	.	.	.	.	.	.	.	.	T	16.84	3.233528	0.58886	.	.	ENSG00000137975	ENST00000370565	T	0.14516	2.5	5.26	5.26	0.73747	Chloride channel calcium-activated (1);	0.446546	0.22223	N	0.062932	T	0.17831	0.0428	M	0.63169	1.94	0.22745	N	0.998786	D	0.58620	0.983	P	0.57057	0.812	T	0.02774	-1.1112	10	0.56958	D	0.05	-1.0041	14.8404	0.70220	0.0:0.0:0.0:1.0	.	229	Q9UQC9	CLCA2_HUMAN	N	229	ENSP00000359596:I229N	ENSP00000359596:I229N	I	+	2	0	CLCA2	86670741	0.993000	0.37304	0.062000	0.19696	0.700000	0.40528	5.011000	0.64011	1.983000	0.57843	0.533000	0.62120	ATC		0.378	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028284.1	NM_006536		38	87	0	0	0	1	0	38	87				
ITPRIP	85450	broad.mit.edu	37	10	106074373	106074373	+	Silent	SNP	G	G	A	rs377032318		TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr10:106074373G>A	ENST00000337478.1	-	2	1608	c.1437C>T	c.(1435-1437)atC>atT	p.I479I	RP11-127L20.5_ENST00000472915.2_RNA|ITPRIP_ENST00000358187.2_Silent_p.I479I|ITPRIP_ENST00000278071.2_Silent_p.I479I	NM_001272013.1	NP_001258942.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	479						membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						TGCGGTTGCCGATGAAGAAGT	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		19328	0.001		0.0	False		,,,				2504	0.0					ENST00000278071.2																			0				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						c.(1435-1437)atC>atT		inositol 1,4,5-trisphosphate receptor interacting protein		G		1,4405	2.1+/-5.4	0,1,2202	60.0	64.0	62.0		1437	-6.4	0.9	10		62	0,8600		0,0,4300	no	coding-synonymous	ITPRIP	NM_033397.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		479/548	106074373	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	85450					plasma membrane		g.chr10:106074373G>A	AB051541	CCDS7557.1	10q25.1	2011-04-28	2011-04-28	2008-08-11	ENSG00000148841	ENSG00000148841			29370	protein-coding gene	gene with protein product			"""KIAA1754"", ""inositol 1,4,5-triphosphate receptor interacting protein"""	KIAA1754		11214970, 16990268	Standard	NM_001272012		Approved	bA127L20.2, DANGER	uc001kye.4	Q8IWB1	OTTHUMG00000019003	ENST00000337478.1:c.1437C>T	10.37:g.106074373G>A						ITPRIP_ENST00000337478.1_Silent_p.I479I|ITPRIP_ENST00000358187.2_Silent_p.I479I	p.I479I	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN			3	1889	-			479					D3DRA5|Q5JU17|Q96MS8|Q9C0A9	Silent	SNP	ENST00000337478.1	37	c.1437C>T	CCDS7557.1																																																																																				0.637	ITPRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050204.1	NM_033397		4	109	0	0	0	1	0	4	109				
GPR17	2840	broad.mit.edu	37	2	128408985	128408985	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr2:128408985G>A	ENST00000272644.3	+	3	834	c.760G>A	c.(760-762)Gag>Aag	p.E254K	GPR17_ENST00000393018.3_Missense_Mutation_p.E254K|LIMS2_ENST00000324938.5_Intron|LIMS2_ENST00000409254.1_5'Flank|LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000545738.2_Intron|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000409455.1_Intron|GPR17_ENST00000544369.1_Missense_Mutation_p.E254K|LIMS2_ENST00000410011.1_Intron|LIMS2_ENST00000355119.4_Intron	NM_001161416.1|NM_001161417.1|NM_005291.2	NP_001154888.1|NP_001154889.1|NP_005282.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	254					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		CCTGCGTGTGGAGAAGCGCCT	0.622																																						ENST00000544369.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19						c.(760-762)Gag>Aag		G protein-coupled receptor 17																																				SO:0001583	missense	0					integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled	g.chr2:128408985G>A		CCDS2148.1	2q21	2014-01-30			ENSG00000144230	ENSG00000144230		"""GPCR / Class A : Orphans"""	4471	protein-coding gene	gene with protein product		603071				8558062	Standard	NM_001161415		Approved		uc002tpc.3	Q13304	OTTHUMG00000131533	ENST00000272644.3:c.760G>A	2.37:g.128408985G>A	ENSP00000272644:p.Glu254Lys					LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000355119.4_Intron|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000410011.1_Intron|GPR17_ENST00000272644.3_Missense_Mutation_p.E254K|GPR17_ENST00000393018.3_Missense_Mutation_p.E254K|LIMS2_ENST00000324938.5_Intron|LIMS2_ENST00000545738.2_Intron|LIMS2_ENST00000409455.1_Intron	p.E254K	NM_001161415.1	NP_001154887.1	Q13304	GPR17_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0677)	4	1371	+	Colorectal(110;0.1)	Ovarian(717;0.15)	254					A8K9L0|B2R9X0|Q8N5S7|Q9UDZ6|Q9UE21	Missense_Mutation	SNP	ENST00000272644.3	37	c.760G>A	CCDS2148.1	.	.	.	.	.	.	.	.	.	.	.	23.4	4.417189	0.83449	.	.	ENSG00000144230	ENST00000544369;ENST00000272644;ENST00000393018	T;T;T	0.38240	1.15;1.15;1.15	5.34	5.34	0.76211	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.43166	0.1235	L	0.31926	0.97	0.54753	D	0.999987	D	0.67145	0.996	D	0.65573	0.936	T	0.10870	-1.0611	10	0.15952	T	0.53	.	12.3964	0.55386	0.0772:0.0:0.9228:0.0	.	254	Q13304	GPR17_HUMAN	K	254	ENSP00000442982:E254K;ENSP00000272644:E254K;ENSP00000376741:E254K	ENSP00000272644:E254K	E	+	1	0	GPR17	128125455	1.000000	0.71417	0.982000	0.44146	0.959000	0.62525	6.782000	0.75073	2.504000	0.84457	0.561000	0.74099	GAG		0.622	GPR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254390.1			43	83	0	0	0	1	0	43	83				
FZD2	2535	broad.mit.edu	37	17	42636356	42636356	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr17:42636356G>A	ENST00000315323.3	+	1	1432	c.1300G>A	c.(1300-1302)Ggc>Agc	p.G434S		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	434					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cell-cell signaling (GO:0007267)|cochlea morphogenesis (GO:0090103)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|inner ear receptor cell development (GO:0060119)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|sensory perception of smell (GO:0007608)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CCTCCTGGCCGGCTTCGTGTC	0.632																																						ENST00000315323.3																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33						c.(1300-1302)Ggc>Agc		frizzled family receptor 2							105.0	96.0	99.0					17																	42636356		2203	4300	6503	SO:0001583	missense	2535				axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr17:42636356G>A	L37882	CCDS11484.1	17q21.1	2014-01-29	2014-01-29			ENSG00000180340		"""GPCR / Class F : Frizzled receptors"""	4040	protein-coding gene	gene with protein product		600667	"""frizzled (Drosophila) homolog 2"", ""frizzled homolog 2 (Drosophila)"", ""frizzled 2, seven transmembrane spanning receptor"", ""frizzled family receptor 2"""			7558010, 9813155	Standard	NM_001466		Approved		uc002igx.2	Q14332		ENST00000315323.3:c.1300G>A	17.37:g.42636356G>A	ENSP00000323901:p.Gly434Ser						p.G434S	NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	1	1432	+		Prostate(33;0.0181)	434					Q0VG82	Missense_Mutation	SNP	ENST00000315323.3	37	c.1300G>A	CCDS11484.1	.	.	.	.	.	.	.	.	.	.	g	27.8	4.867941	0.91587	.	.	ENSG00000180340	ENST00000541149;ENST00000315323	D	0.92099	-2.97	5.24	5.24	0.73138	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.97626	0.9222	H	0.97103	3.94	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.99038	1.0823	10	0.87932	D	0	.	18.433	0.90633	0.0:0.0:1.0:0.0	.	434	Q14332	FZD2_HUMAN	S	510;434	ENSP00000323901:G434S	ENSP00000323901:G434S	G	+	1	0	FZD2	39991882	1.000000	0.71417	0.542000	0.28115	0.957000	0.61999	9.857000	0.99534	2.436000	0.82500	0.561000	0.74099	GGC		0.632	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457806.1	NM_001466		4	172	0	0	0	1	0	4	172				
NBPF10	100132406	broad.mit.edu	37	1	145296440	145296440	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr1:145296440G>A	ENST00000342960.5	+	3	397	c.362G>A	c.(361-363)cGc>cAc	p.R121H	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	121						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.R121H(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GATGCCTCCCGCTCATTGTAT	0.562																																						ENST00000342960.5																			1	Substitution - Missense(1)	p.R121H(1)	kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(361-363)cGc>cAc		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145296440G>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.362G>A	1.37:g.145296440G>A	ENSP00000345684:p.Arg121His					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR	p.R121H	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	3	397	+	all_hematologic(923;0.032)		121					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.362G>A	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.583	-0.836154	0.02713	.	.	ENSG00000163386	ENST00000369339;ENST00000448873;ENST00000342960	T	0.02837	4.14	1.04	-2.09	0.07232	.	.	.	.	.	T	0.00384	0.0012	N	0.17474	0.49	0.09310	N	1	.	.	.	.	.	.	T	0.41288	-0.9517	7	0.15952	T	0.53	.	2.435	0.04480	0.3331:0.0:0.2034:0.4635	.	.	.	.	H	121;46;121	ENSP00000345684:R121H	ENSP00000345684:R121H	R	+	2	0	NBPF10	144007797	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.405000	0.01045	-3.091000	0.00247	-1.767000	0.00664	CGC		0.562	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		6	350	0	0	0	1	0	6	350				
ZNF776	284309	broad.mit.edu	37	19	58264700	58264700	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr19:58264700A>G	ENST00000317178.5	+	3	465	c.202A>G	c.(202-204)Acc>Gcc	p.T68A	ZNF776_ENST00000431353.1_3'UTR|AC003006.7_ENST00000594684.1_Missense_Mutation_p.T68A	NM_173632.3	NP_775903.3	Q68DI1	ZN776_HUMAN	zinc finger protein 776	68	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		TTCTAAGCAGACCCTTTCTAT	0.463																																						ENST00000317178.5																			0				cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31						c.(202-204)Acc>Gcc		zinc finger protein 776							117.0	119.0	119.0					19																	58264700		2203	4300	6503	SO:0001583	missense	284309							g.chr19:58264700A>G	AK095607	CCDS12962.2	19q13.43	2013-01-08			ENSG00000152443	ENSG00000152443		"""Zinc fingers, C2H2-type"", ""-"""	26765	protein-coding gene	gene with protein product							Standard	NM_173632		Approved	FLJ38288		Q68DI1	OTTHUMG00000156943	ENST00000317178.5:c.202A>G	19.37:g.58264700A>G	ENSP00000321812:p.Thr68Ala					ZNF776_ENST00000431353.1_3'UTR	p.T68A	NM_173632.3	NP_775903.3				UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)	3	465	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)						Q6ZS36|Q8N968	Missense_Mutation	SNP	ENST00000317178.5	37	c.202A>G	CCDS12962.2	.	.	.	.	.	.	.	.	.	.	A	10.83	1.461545	0.26248	.	.	ENSG00000152443	ENST00000317178	T	0.06371	3.31	2.08	1.0	0.19881	Krueppel-associated box (3);	.	.	.	.	T	0.02929	0.0087	N	0.08118	0	0.09310	N	1	B;B	0.21071	0.016;0.051	B;B	0.14023	0.005;0.01	T	0.47302	-0.9128	9	0.25106	T	0.35	.	4.9983	0.14251	0.8252:0.0:0.1748:0.0	.	68;68	Q68DI1;B4DSC6	ZN776_HUMAN;.	A	68	ENSP00000321812:T68A	ENSP00000321812:T68A	T	+	1	0	ZNF776	62956512	0.000000	0.05858	0.001000	0.08648	0.653000	0.38743	-0.464000	0.06688	0.084000	0.17077	0.260000	0.18958	ACC		0.463	ZNF776-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346722.2	NM_173632		39	93	0	0	0	1	0	39	93				
IL33	90865	broad.mit.edu	37	9	6253587	6253587	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr9:6253587C>T	ENST00000381434.3	+	5	518	c.505C>T	c.(505-507)Ccc>Tcc	p.P169S	IL33_ENST00000417746.2_Missense_Mutation_p.P43S|IL33_ENST00000456383.2_Missense_Mutation_p.P127S	NM_033439.3	NP_254274.1	O95760	IL33_HUMAN	interleukin 33	169					extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of immunoglobulin secretion (GO:0051025)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type 2 immune response (GO:0002830)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|nucleus (GO:0005634)	cytokine activity (GO:0005125)			breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		GTCTCAACACCCCTCAAATGA	0.383																																						ENST00000381434.3																			0				breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16						c.(505-507)Ccc>Tcc		interleukin 33							134.0	127.0	130.0					9																	6253587		2203	4300	6503	SO:0001583	missense	90865				positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity	g.chr9:6253587C>T	AB024518	CCDS6468.1, CCDS56563.1, CCDS56564.1	9p24.1	2014-01-28	2006-11-20	2006-11-20	ENSG00000137033	ENSG00000137033		"""Interleukins and interleukin receptors"""	16028	protein-coding gene	gene with protein product	"""DVS27-related protein"", ""nuclear factor for high endothelial venules"", ""interleukin-1 family, member 11"""	608678	"""chromosome 9 open reading frame 26 (NF-HEV)"""	C9orf26		10566975, 12819012	Standard	NM_033439		Approved	DVS27, DKFZp586H0523, NF-HEV, IL1F11	uc003zjt.3	O95760	OTTHUMG00000019516	ENST00000381434.3:c.505C>T	9.37:g.6253587C>T	ENSP00000370842:p.Pro169Ser					IL33_ENST00000456383.2_Missense_Mutation_p.P127S|IL33_ENST00000417746.2_Missense_Mutation_p.P43S	p.P169S	NM_033439.3	NP_254274.1	O95760	IL33_HUMAN		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)	5	518	+		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)	169					B2R8L1|B4DJ35|B4E1Q9|D3DRI5|E7EAX4|Q2YEJ5	Missense_Mutation	SNP	ENST00000381434.3	37	c.505C>T	CCDS6468.1	.	.	.	.	.	.	.	.	.	.	C	3.510	-0.099993	0.07010	.	.	ENSG00000137033	ENST00000417746;ENST00000456383;ENST00000381434	T;T;T	0.62498	0.02;0.02;0.02	4.38	-6.08	0.02151	.	0.960117	0.08591	N	0.923065	T	0.38957	0.1060	N	0.19112	0.55	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.08055	0.002;0.003;0.003	T	0.19877	-1.0292	10	0.25106	T	0.35	-0.2477	8.1671	0.31233	0.0:0.2495:0.1199:0.6306	.	43;127;169	B4DJ35;B4E1Q9;O95760	.;.;IL33_HUMAN	S	43;127;169	ENSP00000394039:P43S;ENSP00000414238:P127S;ENSP00000370842:P169S	ENSP00000370842:P169S	P	+	1	0	IL33	6243587	0.000000	0.05858	0.000000	0.03702	0.076000	0.17211	-0.877000	0.04197	-1.354000	0.02188	-0.290000	0.09829	CCC		0.383	IL33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051655.1	NM_033439		11	33	0	0	0	1	0	11	33				
TRABD2A	129293	broad.mit.edu	37	2	85051212	85051212	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr2:85051212G>A	ENST00000409520.2	-	6	1241	c.1199C>T	c.(1198-1200)cCt>cTt	p.P400L	TRABD2A_ENST00000335459.5_Missense_Mutation_p.P351L|TRABD2A_ENST00000479944.1_5'UTR	NM_001277053.1	NP_001263982.1	Q86V40	TIKI1_HUMAN	TraB domain containing 2A	400					head development (GO:0060322)|metabolic process (GO:0008152)|negative regulation of Wnt signaling pathway (GO:0030178)|protein oxidation (GO:0018158)|Wnt signaling pathway (GO:0016055)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|Wnt-protein binding (GO:0017147)										CACAAGGGGAGGCAGCGTTGA	0.642																																						ENST00000335459.5																			0											c.(1051-1053)cCt>cTt		TraB domain containing 2A							51.0	59.0	56.0					2																	85051212		2201	4295	6496	SO:0001583	missense	129293							g.chr2:85051212G>A	BC049209	CCDS46349.1, CCDS62946.1	2p11.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000186854	ENSG00000186854			27013	protein-coding gene	gene with protein product		614912	"""chromosome 2 open reading frame 89"""	C2orf89		12477932	Standard	NM_001080824		Approved		uc010ysl.3	Q86V40	OTTHUMG00000152922	ENST00000409520.2:c.1199C>T	2.37:g.85051212G>A	ENSP00000387075:p.Pro400Leu					TRABD2A_ENST00000479944.1_5'UTR|TRABD2A_ENST00000409520.2_Missense_Mutation_p.P400L	p.P351L	NM_001080824.1	NP_001074293.1					5	1257	-								B4DKK8|I6UMB9	Missense_Mutation	SNP	ENST00000409520.2	37	c.1052C>T		.	.	.	.	.	.	.	.	.	.	g	3.771	-0.047708	0.07407	.	.	ENSG00000186854	ENST00000335459;ENST00000409520	T;T	0.27256	1.68;1.85	2.89	-0.0529	0.13820	.	0.790281	0.10643	U	0.650723	T	0.12475	0.0303	.	.	.	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.34601	-0.9822	9	0.20046	T	0.44	.	5.0409	0.14458	0.4538:0.0:0.5462:0.0	.	400;351	Q86V40;Q86V40-2	CB089_HUMAN;.	L	351;400	ENSP00000335004:P351L;ENSP00000387075:P400L	ENSP00000335004:P351L	P	-	2	0	C2orf89	84904723	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.300000	0.08243	0.117000	0.18138	0.291000	0.19559	CCT		0.642	TRABD2A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001080824		9	36	0	0	0	1	0	9	36				
CTCFL	140690	broad.mit.edu	37	20	56093842	56093842	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr20:56093842C>T	ENST00000608263.1	-	4	1692	c.1031G>A	c.(1030-1032)tGt>tAt	p.C344Y	CTCFL_ENST00000433949.3_Missense_Mutation_p.C139Y|CTCFL_ENST00000609232.1_Missense_Mutation_p.C344Y|CTCFL_ENST00000432255.2_Missense_Mutation_p.C344Y|CTCFL_ENST00000539382.1_Missense_Mutation_p.C139Y|CTCFL_ENST00000481655.2_Missense_Mutation_p.C344Y|CTCFL_ENST00000371196.2_Missense_Mutation_p.C344Y|CTCFL_ENST00000429804.3_Missense_Mutation_p.C344Y|CTCFL_ENST00000608440.1_Missense_Mutation_p.C344Y|CTCFL_ENST00000422869.2_Missense_Mutation_p.C344Y|CTCFL_ENST00000608903.1_Missense_Mutation_p.C82Y|CTCFL_ENST00000608858.1_5'UTR|CTCFL_ENST00000608158.1_Missense_Mutation_p.C344Y|CTCFL_ENST00000243914.3_Missense_Mutation_p.C344Y|CTCFL_ENST00000502686.2_Missense_Mutation_p.C82Y|CTCFL_ENST00000423479.3_Missense_Mutation_p.C344Y|CTCFL_ENST00000608425.1_Missense_Mutation_p.C344Y	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	344					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			GCACATGGAACATTTAAAGGG	0.458																																						ENST00000426658.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(1030-1032)tGt>tAt		CCCTC-binding factor (zinc finger protein)-like							196.0	178.0	184.0					20																	56093842		2203	4300	6503	SO:0001583	missense	140690				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:56093842C>T		CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.1031G>A	20.37:g.56093842C>T	ENSP00000476783:p.Cys344Tyr					CTCFL_ENST00000429804.2_Missense_Mutation_p.C344Y|CTCFL_ENST00000481655.1_5'UTR|CTCFL_ENST00000423479.2_Missense_Mutation_p.C344Y|CTCFL_ENST00000422869.2_Missense_Mutation_p.C344Y|CTCFL_ENST00000422109.2_Missense_Mutation_p.C344Y|CTCFL_ENST00000371196.2_Missense_Mutation_p.C344Y|CTCFL_ENST00000243914.3_Missense_Mutation_p.C344Y|CTCFL_ENST00000539382.1_Missense_Mutation_p.C139Y|CTCFL_ENST00000502686.2_Missense_Mutation_p.C82Y|CTCFL_ENST00000433949.2_Missense_Mutation_p.C344Y|CTCFL_ENST00000432255.2_Missense_Mutation_p.C344Y	p.C344Y			Q8NI51	CTCFL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)		4	1692	-	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		344					A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Missense_Mutation	SNP	ENST00000608263.1	37	c.1031G>A	CCDS13459.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.180932	0.78677	.	.	ENSG00000124092	ENST00000423479;ENST00000243914;ENST00000371196;ENST00000429804;ENST00000433949;ENST00000502686;ENST00000422109;ENST00000426658;ENST00000432255;ENST00000539382;ENST00000422869	D;D;D;D;D;D;D;D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94	4.77	4.77	0.60923	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45126	D	0.000385	D	0.94522	0.8236	H	0.94582	3.555	0.58432	D	0.999996	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;0.999;0.999;1.0;0.999;1.0;1.0	D	0.96056	0.9035	10	0.87932	D	0	-19.8102	16.9368	0.86205	0.0:1.0:0.0:0.0	.	344;344;344;344;344;344;344;344	A6XGM3;A6XGM0;A6XGM9;A6XGM8;A6XGM2;E7EUE3;A6XGL8;Q8NI51	.;.;.;.;.;.;.;CTCFL_HUMAN	Y	344;344;344;344;344;82;344;344;344;139;344	ENSP00000415579:C344Y;ENSP00000243914:C344Y;ENSP00000360239:C344Y;ENSP00000415329:C344Y;ENSP00000392034:C344Y;ENSP00000437999:C82Y;ENSP00000413713:C344Y;ENSP00000403369:C344Y;ENSP00000409344:C344Y;ENSP00000439998:C139Y;ENSP00000399061:C344Y	ENSP00000243914:C344Y	C	-	2	0	CTCFL	55527248	1.000000	0.71417	0.757000	0.31301	0.690000	0.40134	7.278000	0.78587	2.346000	0.79739	0.591000	0.81541	TGT		0.458	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		7	154	0	0	0	1	0	7	154				
PKHD1L1	93035	broad.mit.edu	37	8	110477192	110477192	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr8:110477192G>A	ENST00000378402.5	+	49	8235	c.8131G>A	c.(8131-8133)Ggc>Agc	p.G2711S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2711					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAAAATAGTCGGCCATCTTGA	0.463										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(8131-8133)Ggc>Agc		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							170.0	169.0	170.0					8																	110477192		1893	4115	6008	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110477192G>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.8131G>A	8.37:g.110477192G>A	ENSP00000367655:p.Gly2711Ser	HNSCC(38;0.096)					p.G2711S	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		49	8235	+			2711					Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.8131G>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.037834	0.75617	.	.	ENSG00000205038	ENST00000378402	D	0.93604	-3.25	5.78	5.78	0.91487	.	0.061993	0.64402	D	0.000005	D	0.95124	0.8420	M	0.73598	2.24	0.45822	D	0.998692	D	0.60575	0.988	P	0.53401	0.725	D	0.94480	0.7692	10	0.44086	T	0.13	.	17.4929	0.87709	0.0:0.0:1.0:0.0	.	2711	Q86WI1	PKHL1_HUMAN	S	2711	ENSP00000367655:G2711S	ENSP00000367655:G2711S	G	+	1	0	PKHD1L1	110546368	1.000000	0.71417	0.999000	0.59377	0.623000	0.37688	8.378000	0.90144	2.724000	0.93272	0.655000	0.94253	GGC		0.463	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		48	108	0	0	0	1	0	48	108				
HYAL2	8692	broad.mit.edu	37	3	50357541	50357541	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr3:50357541G>A	ENST00000447092.1	-	1	2672	c.380C>T	c.(379-381)gCg>gTg	p.A127V	HYAL2_ENST00000357750.4_Missense_Mutation_p.A127V|HYAL2_ENST00000442581.1_Missense_Mutation_p.A127V|TUSC2_ENST00000462137.1_5'UTR|HYAL2_ENST00000395139.3_Missense_Mutation_p.A127V			Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2	127					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|defense response to virus (GO:0051607)|fusion of virus membrane with host plasma membrane (GO:0019064)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hematopoietic progenitor cell differentiation (GO:0002244)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|kidney development (GO:0001822)|monocyte activation (GO:0042117)|multicellular organismal aging (GO:0010259)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|response to antibiotic (GO:0046677)|response to reactive oxygen species (GO:0000302)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|transformation of host cell by virus (GO:0019087)|viral entry into host cell (GO:0046718)	anchored component of external side of plasma membrane (GO:0031362)|anchored component of plasma membrane (GO:0046658)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|lysosome (GO:0005764)|membrane raft (GO:0045121)|microvillus (GO:0005902)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|hyaluronic acid binding (GO:0005540)|hyaluronoglucuronidase activity (GO:0033906)|hyalurononglucosaminidase activity (GO:0004415)|receptor signaling protein tyrosine kinase inhibitor activity (GO:0030294)|receptor tyrosine kinase binding (GO:0030971)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)			breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CGCCAGCCCCGCAGACTCCTG	0.592																																						ENST00000447092.1																			0				breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7						c.(379-381)gCg>gTg		hyaluronoglucosaminidase 2	Hyaluronidase(DB00070)						83.0	78.0	80.0					3																	50357541		2203	4300	6503	SO:0001583	missense	8692					anchored to membrane|lysosome|plasma membrane	hyalurononglucosaminidase activity|receptor activity	g.chr3:50357541G>A	AJ000099	CCDS2818.1	3p21.3	2008-07-18			ENSG00000068001	ENSG00000068001			5321	protein-coding gene	gene with protein product	"""lysosomal hyaluronidase"", ""PH-20 homolog"", ""hyaluronidase 2"""	603551				9712871, 9790770	Standard	NM_003773		Approved	LuCa-2, LUCA2	uc003czv.3	Q12891	OTTHUMG00000156876	ENST00000447092.1:c.380C>T	3.37:g.50357541G>A	ENSP00000401853:p.Ala127Val					HYAL2_ENST00000357750.4_Missense_Mutation_p.A127V|TUSC2_ENST00000462137.1_5'UTR|HYAL2_ENST00000442581.1_Missense_Mutation_p.A127V|HYAL2_ENST00000395139.3_Missense_Mutation_p.A127V	p.A127V			Q12891	HYAL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	1	2672	-			127					B3KRZ2|O15177|Q9BW29	Missense_Mutation	SNP	ENST00000447092.1	37	c.380C>T	CCDS2818.1	.	.	.	.	.	.	.	.	.	.	G	7.732	0.699446	0.15106	.	.	ENSG00000068001	ENST00000447092;ENST00000357750;ENST00000395139;ENST00000442581	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	5.81	-0.862	0.10673	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.356016	0.35615	N	0.003088	T	0.16981	0.0408	L	0.43923	1.385	0.09310	N	0.999998	P;B	0.38978	0.652;0.375	B;B	0.33960	0.173;0.146	T	0.13764	-1.0497	10	0.27785	T	0.31	-5.2837	4.2846	0.10848	0.1323:0.0835:0.4613:0.3228	.	127;127	B3KRZ2;Q12891	.;HYAL2_HUMAN	V	127	ENSP00000401853:A127V;ENSP00000350387:A127V;ENSP00000378571:A127V;ENSP00000406657:A127V	ENSP00000350387:A127V	A	-	2	0	HYAL2	50332545	0.030000	0.19436	0.004000	0.12327	0.000000	0.00434	0.500000	0.22562	-0.093000	0.12396	-4.350000	0.00007	GCG		0.592	HYAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346391.1	NM_003773		4	132	0	0	0	1	0	4	132				
CCNB1	891	broad.mit.edu	37	5	68467121	68467121	+	Missense_Mutation	SNP	A	A	G	rs180760005		TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr5:68467121A>G	ENST00000256442.5	+	4	641	c.388A>G	c.(388-390)Atg>Gtg	p.M130V		NM_031966.3	NP_114172.1	P14635	CCNB1_HUMAN	cyclin B1	130					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to iron(III) ion (GO:0071283)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle checkpoint (GO:0071174)|mitotic spindle stabilization (GO:0043148)|negative regulation of gene expression (GO:0010629)|negative regulation of protein phosphorylation (GO:0001933)|oocyte maturation (GO:0001556)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of chromosome condensation (GO:0060623)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to DDT (GO:0046680)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|spermatogenesis (GO:0007283)|tissue regeneration (GO:0042246)|ventricular cardiac muscle cell development (GO:0055015)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	kinase activity (GO:0016301)|patched binding (GO:0005113)|protein kinase binding (GO:0019901)			large_intestine(2)|lung(5)|skin(1)	8		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		TCCAAGCCCAATGGAAACATC	0.423													A|||	1	0.000199681	0.0008	0.0	5008	,	,		19364	0.0		0.0	False		,,,				2504	0.0					ENST00000256442.5																			0				large_intestine(2)|lung(5)|skin(1)	8						c.(388-390)Atg>Gtg		cyclin B1							119.0	117.0	118.0					5																	68467121		2203	4300	6503	SO:0001583	missense	891				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitotic cell cycle spindle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|mitotic spindle stabilization|positive regulation of attachment of spindle microtubules to kinetochore|positive regulation of mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	condensed nuclear chromosome outer kinetochore|cytosol|microtubule organizing center|nucleoplasm|spindle pole		g.chr5:68467121A>G	U22364	CCDS3997.1	5q12	2008-07-18			ENSG00000134057	ENSG00000134057			1579	protein-coding gene	gene with protein product	"""G2/mitotic-specific cyclin B1"""	123836		CCNB		1386342	Standard	NM_031966		Approved		uc003jvm.3	P14635	OTTHUMG00000097817	ENST00000256442.5:c.388A>G	5.37:g.68467121A>G	ENSP00000256442:p.Met130Val						p.M130V	NM_031966.3	NP_114172.1	P14635	CCNB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)	4	641	+		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)	130					A8K066|Q5TZP9	Missense_Mutation	SNP	ENST00000256442.5	37	c.388A>G	CCDS3997.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	15.05	2.718255	0.48622	.	.	ENSG00000134057	ENST00000256442;ENST00000506572;ENST00000508407;ENST00000505500	T;T;T;T	0.12879	2.82;2.64;2.64;2.64	5.88	5.88	0.94601	.	0.268520	0.47455	D	0.000231	T	0.18509	0.0444	M	0.72576	2.205	0.80722	D	1	B;B;B	0.17268	0.019;0.021;0.021	B;B;B	0.20384	0.029;0.019;0.013	T	0.05818	-1.0862	10	0.15952	T	0.53	.	15.2723	0.73712	1.0:0.0:0.0:0.0	.	130;130;130	E9PC90;Q5TZP9;P14635	.;.;CCNB1_HUMAN	V	130	ENSP00000256442:M130V;ENSP00000423387:M130V;ENSP00000426092:M130V;ENSP00000424588:M130V	ENSP00000256442:M130V	M	+	1	0	CCNB1	68502877	1.000000	0.71417	0.998000	0.56505	0.881000	0.50899	7.201000	0.77847	2.250000	0.74265	0.482000	0.46254	ATG		0.423	CCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215084.1	NM_031966		19	48	0	0	0	1	0	19	48				
FPGS	2356	broad.mit.edu	37	9	130575671	130575671	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr9:130575671A>G	ENST00000373247.2	+	15	1602	c.1552A>G	c.(1552-1554)Agc>Ggc	p.S518G	FPGS_ENST00000373245.1_3'UTR|RP11-228B15.4_ENST00000439298.1_RNA|FPGS_ENST00000373225.3_Missense_Mutation_p.S468G|FPGS_ENST00000393706.2_Missense_Mutation_p.S492G|FPGS_ENST00000460181.1_3'UTR	NM_004957.4	NP_004948.4	Q05932	FOLC_HUMAN	folylpolyglutamate synthase	518					brain development (GO:0007420)|folic acid metabolic process (GO:0046655)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|one-carbon metabolic process (GO:0006730)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|tetrahydrofolylpolyglutamate synthase activity (GO:0004326)			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					Methotrexate(DB00563)|Pralatrexate(DB06813)|Raltitrexed(DB00293)	CCTCGTCTTCAGCTGCATTTC	0.652																																						ENST00000373225.3																			0				endometrium(2)|kidney(1)|lung(3)|ovary(1)	7						c.(1402-1404)Agc>Ggc		folylpolyglutamate synthase	L-Glutamic Acid(DB00142)						86.0	82.0	84.0					9																	130575671		2203	4300	6503	SO:0001583	missense	2356				folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity	g.chr9:130575671A>G		CCDS35148.1, CCDS35149.1, CCDS75905.1	9q34.11	2013-09-19			ENSG00000136877	ENSG00000136877	6.3.2.17		3824	protein-coding gene	gene with protein product		136510					Standard	NM_004957		Approved		uc004bsg.1	Q05932	OTTHUMG00000020716	ENST00000373247.2:c.1552A>G	9.37:g.130575671A>G	ENSP00000362344:p.Ser518Gly					FPGS_ENST00000373245.1_3'UTR|FPGS_ENST00000373247.2_Missense_Mutation_p.S518G|FPGS_ENST00000393706.2_Missense_Mutation_p.S492G|FPGS_ENST00000460181.1_3'UTR	p.S468G	NM_001018078.1	NP_001018088.1	Q05932	FOLC_HUMAN			15	1611	+			518					B3KPW4|B7Z2Z3|F5H0K6|Q5JU19|Q5JU22|Q6P2P6	Missense_Mutation	SNP	ENST00000373247.2	37	c.1402A>G	CCDS35148.1	.	.	.	.	.	.	.	.	.	.	A	12.65	2.002168	0.35320	.	.	ENSG00000136877	ENST00000373247;ENST00000393706;ENST00000373225	T;T;T	0.15603	2.79;2.81;2.41	5.16	3.99	0.46301	Mur ligase, C-terminal (1);	0.142724	0.64402	N	0.000008	T	0.13500	0.0327	L	0.46157	1.445	0.80722	D	1	B;B	0.13145	0.007;0.004	B;B	0.10450	0.005;0.004	T	0.10314	-1.0635	10	0.23302	T	0.38	-20.494	6.4464	0.21879	0.6491:0.265:0.0859:0.0	.	492;518	Q05932-4;Q05932	.;FOLC_HUMAN	G	518;492;468	ENSP00000362344:S518G;ENSP00000377309:S492G;ENSP00000362322:S468G	ENSP00000362322:S468G	S	+	1	0	FPGS	129615492	.	.	1.000000	0.80357	0.467000	0.32768	.	.	0.770000	0.33336	0.528000	0.53228	AGC		0.652	FPGS-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054251.1			52	118	0	0	0	1	0	52	118				
KLHL28	54813	broad.mit.edu	37	14	45403339	45403339	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr14:45403339T>C	ENST00000396128.4	-	3	1441	c.1322A>G	c.(1321-1323)tAt>tGt	p.Y441C	KLHL28_ENST00000355081.2_Missense_Mutation_p.Y455C	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	441										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GGCAGGACCATACCCACCAAT	0.363																																						ENST00000396128.4																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1321-1323)tAt>tGt		kelch-like family member 28							71.0	65.0	67.0					14																	45403339		2203	4300	6503	SO:0001583	missense	54813							g.chr14:45403339T>C	AK000088	CCDS9680.1	14q21.1	2013-02-22	2013-02-22	2007-01-09	ENSG00000179454	ENSG00000179454		"""Kelch-like"", ""BTB/POZ domain containing"""	19741	protein-coding gene	gene with protein product			"""BTB (POZ) domain containing 5"", ""kelch-like 28 (Drosophila)"""	BTBD5			Standard	NM_017658		Approved	FLJ20081	uc001wvr.3	Q9NXS3	OTTHUMG00000140263	ENST00000396128.4:c.1322A>G	14.37:g.45403339T>C	ENSP00000379434:p.Tyr441Cys					KLHL28_ENST00000355081.2_Missense_Mutation_p.Y455C	p.Y441C	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN			3	1441	-			441					Q0VAL5	Missense_Mutation	SNP	ENST00000396128.4	37	c.1322A>G	CCDS9680.1	.	.	.	.	.	.	.	.	.	.	T	18.30	3.594519	0.66219	.	.	ENSG00000179454	ENST00000396128;ENST00000355081	T;T	0.77229	-1.08;-1.08	5.58	5.58	0.84498	Kelch-type beta propeller (1);	0.054362	0.85682	D	0.000000	T	0.80449	0.4625	N	0.17922	0.545	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82446	-0.0453	10	0.51188	T	0.08	.	15.4015	0.74843	0.0:0.0:0.0:1.0	.	441	Q9NXS3	KLH28_HUMAN	C	441;455	ENSP00000379434:Y441C;ENSP00000347193:Y455C	ENSP00000347193:Y455C	Y	-	2	0	KLHL28	44473089	1.000000	0.71417	0.999000	0.59377	0.944000	0.59088	7.326000	0.79133	2.110000	0.64415	0.455000	0.32223	TAT		0.363	KLHL28-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276790.3			20	39	0	0	0	1	0	20	39				
SALL4	57167	broad.mit.edu	37	20	50407510	50407510	+	Silent	SNP	G	G	A	rs138804604		TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr20:50407510G>A	ENST00000217086.4	-	2	1623	c.1512C>T	c.(1510-1512)ccC>ccT	p.P504P	SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000395997.3_Intron|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	504					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCAGGTCACCGGGCAAGGAGC	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		18873	0.0		0.0	False		,,,				2504	0.001					ENST00000217086.4																			0				endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1510-1512)ccC>ccT		spalt-like transcription factor 4		G		2,4404	4.2+/-10.8	0,2,2201	97.0	105.0	102.0		1512	4.4	0.3	20	dbSNP_134	102	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SALL4	NM_020436.3		0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231		504/1054	50407510	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50407510G>A	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.1512C>T	20.37:g.50407510G>A						SALL4_ENST00000395997.3_Intron|SALL4_ENST00000371539.3_Intron	p.P504P	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN			2	1623	-			504					A2A2D8|Q540H3|Q6Y8G6	Silent	SNP	ENST00000217086.4	37	c.1512C>T	CCDS13438.1																																																																																				0.567	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			6	212	0	0	0	1	0	6	212				
ABCA10	10349	broad.mit.edu	37	17	67189276	67189276	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr17:67189276G>C	ENST00000269081.4	-	16	2664	c.1755C>G	c.(1753-1755)ttC>ttG	p.F585L	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	585	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					CCTCATCCATGAATTGGGTAC	0.418																																						ENST00000269081.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(1753-1755)ttC>ttG		ATP-binding cassette, sub-family A (ABC1), member 10							114.0	106.0	109.0					17																	67189276		2203	4300	6503	SO:0001583	missense	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67189276G>C	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.1755C>G	17.37:g.67189276G>C	ENSP00000269081:p.Phe585Leu					ABCA10_ENST00000416101.2_3'UTR	p.F585L	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN			16	2664	-	Breast(10;6.95e-12)		585			ABC transporter 1.		C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	ENST00000269081.4	37	c.1755C>G	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.727371	0.30593	.	.	ENSG00000154263	ENST00000269081	T	0.38401	1.14	3.3	-0.0358	0.13891	ATPase, AAA+ type, core (1);ABC transporter-like (1);	.	.	.	.	T	0.24084	0.0583	N	0.20530	0.585	0.80722	D	1	B;B	0.28082	0.2;0.043	B;B	0.33620	0.167;0.018	T	0.08472	-1.0720	9	0.54805	T	0.06	.	9.1038	0.36685	0.3439:0.0:0.6561:0.0	.	585;585	E5RFN6;Q8WWZ4	.;ABCAA_HUMAN	L	585	ENSP00000269081:F585L	ENSP00000269081:F585L	F	-	3	2	ABCA10	64700871	1.000000	0.71417	0.509000	0.27700	0.770000	0.43624	1.798000	0.38814	0.134000	0.18681	0.563000	0.77884	TTC		0.418	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282		23	84	0	0	0	1	0	23	84				
NOTCH1	4851	broad.mit.edu	37	9	139412326	139412326	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr9:139412326C>G	ENST00000277541.6	-	8	1394	c.1319G>C	c.(1318-1320)tGt>tCt	p.C440S	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	440	EGF-like 11; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCCCTGCAGACACTGGCACTC	0.657			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(1318-1320)tGt>tCt		notch 1							48.0	54.0	52.0					9																	139412326		2188	4280	6468	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139412326C>G	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1319G>C	9.37:g.139412326C>G	ENSP00000277541:p.Cys440Ser	HNSCC(8;0.001)					p.C440S	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	8	1394	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	440			EGF-like 11; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.1319G>C	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.312932	0.81358	.	.	ENSG00000148400	ENST00000277541	D	0.99933	-8.27	4.57	4.57	0.56435	EGF-like region, conserved site (2);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99955	0.9981	H	0.97983	4.12	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95923	0.8932	10	0.72032	D	0.01	.	16.3317	0.83023	0.0:1.0:0.0:0.0	.	440	P46531	NOTC1_HUMAN	S	440	ENSP00000277541:C440S	ENSP00000277541:C440S	C	-	2	0	NOTCH1	138532147	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.253000	0.78320	2.088000	0.63022	0.462000	0.41574	TGT		0.657	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		25	68	0	0	0	1	0	25	68				
OR10A3	26496	broad.mit.edu	37	11	7960884	7960884	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr11:7960884A>C	ENST00000360759.3	-	1	257	c.184T>G	c.(184-186)Ttc>Gtc	p.F62V		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	62					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TTCAGGAGGAACAGGTACATG	0.453																																						ENST00000360759.3																			0				endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21						c.(184-186)Ttc>Gtc		olfactory receptor, family 10, subfamily A, member 3							129.0	117.0	121.0					11																	7960884		2201	4296	6497	SO:0001583	missense	26496				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7960884A>C	BK004404	CCDS31421.1	11p15.4	2012-08-09			ENSG00000170683	ENSG00000170683		"""GPCR / Class A : Olfactory receptors"""	8162	protein-coding gene	gene with protein product						1370859	Standard	NM_001003745		Approved	HTPCRX12, HSHTPCRX12	uc010rbi.2	P58181	OTTHUMG00000165672	ENST00000360759.3:c.184T>G	11.37:g.7960884A>C	ENSP00000353988:p.Phe62Val						p.F62V	NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN		Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	257	-			62					B9EH39|Q6IF58|Q96R11	Missense_Mutation	SNP	ENST00000360759.3	37	c.184T>G	CCDS31421.1	.	.	.	.	.	.	.	.	.	.	A	18.59	3.655988	0.67586	.	.	ENSG00000170683	ENST00000360759	T	0.14391	2.51	4.95	4.95	0.65309	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42053	U	0.000766	T	0.47857	0.1468	H	0.94385	3.53	0.31622	N	0.650166	D	0.89917	1.0	D	0.83275	0.996	T	0.66972	-0.5788	10	0.87932	D	0	.	12.8946	0.58091	1.0:0.0:0.0:0.0	.	62	P58181	O10A3_HUMAN	V	62	ENSP00000353988:F62V	ENSP00000353988:F62V	F	-	1	0	OR10A3	7917460	0.929000	0.31497	1.000000	0.80357	0.976000	0.68499	2.118000	0.41949	2.214000	0.71695	0.528000	0.53228	TTC		0.453	OR10A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385704.1	NM_001003745		45	40	0	0	0	1	0	45	40				
LOC101927079	101927079	broad.mit.edu	37	15	22332492	22332492	+	RNA	SNP	A	A	C	rs540968052		TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr15:22332492A>C	ENST00000558896.1	+	0	299																											TATTTCTCTTATTACTATTTT	0.383																																						ENST00000558896.1																			0																																																			0							g.chr15:22332492A>C																													15.37:g.22332492A>C														0	299	+									RNA	SNP	ENST00000558896.1	37																																																																																						0.383	RP11-69H14.6-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000417625.1			4	76	0	0	0	1	0	4	76				
CNOT4	4850	broad.mit.edu	37	7	135106922	135106922	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr7:135106922G>A	ENST00000315544.5	-	3	634	c.355C>T	c.(355-357)Cgc>Tgc	p.R119C	CNOT4_ENST00000423368.2_Missense_Mutation_p.R119C|CNOT4_ENST00000428680.2_Missense_Mutation_p.R119C|CNOT4_ENST00000361528.4_Missense_Mutation_p.R119C|CNOT4_ENST00000356162.4_Missense_Mutation_p.R119C|CNOT4_ENST00000414802.1_Missense_Mutation_p.R119C|CNOT4_ENST00000451834.1_Missense_Mutation_p.R119C|CNOT4_ENST00000541284.1_Missense_Mutation_p.R119C	NM_001190848.1	NP_001177777.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	119	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						TCTGCTAGGCGCTGAGATAAA	0.363																																					Ovarian(51;766 1130 5502 35047 50875)	ENST00000428680.2																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						c.(355-357)Cgc>Tgc		CCR4-NOT transcription complex, subunit 4							138.0	129.0	132.0					7																	135106922		1858	4093	5951	SO:0001583	missense	4850				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:135106922G>A	AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"""RNA binding motif (RRM) containing"""	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000315544.5:c.355C>T	7.37:g.135106922G>A	ENSP00000326731:p.Arg119Cys					CNOT4_ENST00000315544.5_Missense_Mutation_p.R119C|CNOT4_ENST00000414802.1_Missense_Mutation_p.R119C|CNOT4_ENST00000361528.4_Missense_Mutation_p.R119C|CNOT4_ENST00000423368.2_Missense_Mutation_p.R119C|CNOT4_ENST00000451834.1_Missense_Mutation_p.R119C|CNOT4_ENST00000541284.1_Missense_Mutation_p.R119C|CNOT4_ENST00000356162.4_Missense_Mutation_p.R119C	p.R119C	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN			3	634	-			119			RRM.		B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Missense_Mutation	SNP	ENST00000315544.5	37	c.355C>T	CCDS55166.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.586405	0.66105	.	.	ENSG00000080802	ENST00000541284;ENST00000451834;ENST00000423368;ENST00000262563;ENST00000361528;ENST00000414802;ENST00000356162;ENST00000428680;ENST00000315544	T;T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92	5.73	5.73	0.89815	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.71358	0.3330	M	0.87758	2.905	0.80722	D	1	P;P;P;P;D;D	0.89917	0.827;0.892;0.773;0.588;1.0;1.0	B;B;B;B;D;D	0.76575	0.125;0.167;0.075;0.197;0.988;0.988	T	0.75402	-0.3330	10	0.72032	D	0.01	-1.8351	19.9133	0.97031	0.0:0.0:1.0:0.0	.	119;119;119;119;119;119	E7ET38;F8VQP3;O95628;O95628-2;O95628-4;O95628-8	.;.;CNOT4_HUMAN;.;.;.	C	119	ENSP00000445508:R119C;ENSP00000388491:R119C;ENSP00000406777:R119C;ENSP00000354673:R119C;ENSP00000416532:R119C;ENSP00000348485:R119C;ENSP00000399108:R119C;ENSP00000326731:R119C	ENSP00000262563:R119C	R	-	1	0	CNOT4	134757462	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.313000	0.72844	2.721000	0.93114	0.655000	0.94253	CGC		0.363	CNOT4-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_013316		4	98	0	0	0	1	0	4	98				
NDUFAF2	91942	broad.mit.edu	37	5	60241193	60241193	+	Silent	SNP	G	G	A			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr5:60241193G>A	ENST00000296597.5	+	1	238	c.111G>A	c.(109-111)caG>caA	p.Q37Q	ERCC8_ENST00000543101.1_5'Flank|NDUFAF2_ENST00000511107.1_Silent_p.Q37Q|ERCC8_ENST00000426742.2_5'Flank|ERCC8_ENST00000265038.5_5'Flank	NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 2	37					negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)	mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)				ACATCCCGCAGTACAAGAACT	0.552																																						ENST00000296597.5																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6						c.(109-111)caG>caA		NADH dehydrogenase (ubiquinone) complex I, assembly factor 2							70.0	58.0	62.0					5																	60241193		2203	4300	6503	SO:0001819	synonymous_variant	91942					membrane|mitochondrion	electron carrier activity|NADH dehydrogenase (ubiquinone) activity	g.chr5:60241193G>A	AB183433	CCDS3979.1	5q12.1	2012-10-12	2012-05-08	2008-02-15	ENSG00000164182	ENSG00000164182		"""Mitochondrial respiratory chain complex assembly factors"""	28086	protein-coding gene	gene with protein product	"""Myc-induced mitochondrial protein"""	609653	"""NDUFA12-like"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2"""	NDUFA12L		15774466, 16200211, 17383918	Standard	NM_174889		Approved	B17.2L, MMTN, mimitin	uc003jsp.4	Q8N183	OTTHUMG00000131221	ENST00000296597.5:c.111G>A	5.37:g.60241193G>A						NDUFAF2_ENST00000511107.1_Silent_p.Q37Q	p.Q37Q	NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN			1	238	+		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)	37					A8K5I1	Silent	SNP	ENST00000296597.5	37	c.111G>A	CCDS3979.1	.	.	.	.	.	.	.	.	.	.	G	8.328	0.825929	0.16749	.	.	ENSG00000164182	ENST00000502658	.	.	.	5.36	4.5	0.54988	.	.	.	.	.	T	0.60457	0.2270	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58787	-0.7575	4	.	.	.	.	9.7988	0.40751	0.0918:0.0:0.9082:0.0	.	.	.	.	N	11	.	.	S	+	2	0	NDUFAF2	60276950	0.995000	0.38212	0.997000	0.53966	0.633000	0.38033	2.298000	0.43602	1.499000	0.48617	0.655000	0.94253	AGT		0.552	NDUFAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253965.1	NM_174889		4	50	0	0	0	1	0	4	50				
C2orf50	130813	broad.mit.edu	37	2	11273476	11273476	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr2:11273476A>C	ENST00000381585.3	+	1	298	c.16A>C	c.(16-18)Acc>Ccc	p.T6P	C2orf50_ENST00000405022.3_Missense_Mutation_p.T6P|AC062028.1_ENST00000396164.1_lincRNA			Q96LR7	CB050_HUMAN	chromosome 2 open reading frame 50	6										breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0997)|OV - Ovarian serous cystadenocarcinoma(76;0.134)		GAGCCACCCCACCCCTGGGCT	0.637																																						ENST00000381585.3																			0				breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3						c.(16-18)Acc>Ccc		chromosome 2 open reading frame 50							38.0	46.0	44.0					2																	11273476		2203	4300	6503	SO:0001583	missense	130813							g.chr2:11273476A>C	AK057872	CCDS1678.1	2p25.1	2012-08-02			ENSG00000150873	ENSG00000150873			26324	protein-coding gene	gene with protein product						12477932	Standard	NM_182500		Approved	FLJ25143	uc010yjj.1	Q96LR7	OTTHUMG00000119057	ENST00000381585.3:c.16A>C	2.37:g.11273476A>C	ENSP00000370997:p.Thr6Pro					C2orf50_ENST00000405022.3_Missense_Mutation_p.T6P	p.T6P			Q96LR7	CB050_HUMAN		Epithelial(75;0.0997)|OV - Ovarian serous cystadenocarcinoma(76;0.134)	1	298	+	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)		6					A8K9W3|D6W503	Missense_Mutation	SNP	ENST00000381585.3	37	c.16A>C	CCDS1678.1	.	.	.	.	.	.	.	.	.	.	A	8.344	0.829284	0.16749	.	.	ENSG00000150873	ENST00000381585;ENST00000405022	.	.	.	4.18	-5.4	0.02656	.	2.033120	0.02650	N	0.106271	T	0.17492	0.0420	L	0.41027	1.25	0.09310	N	1	P	0.43094	0.799	B	0.34779	0.189	T	0.29822	-0.9999	9	0.48119	T	0.1	.	0.3587	0.00361	0.3837:0.1318:0.1956:0.2889	.	6	Q96LR7	CB050_HUMAN	P	6	.	ENSP00000370997:T6P	T	+	1	0	C2orf50	11190927	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-1.685000	0.01930	-0.615000	0.05679	-0.353000	0.07706	ACC		0.637	C2orf50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239268.1	NM_182500		9	32	0	0	0	1	0	9	32				
MLLT3	4300	broad.mit.edu	37	9	20414280	20414280	+	Silent	SNP	G	G	A			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr9:20414280G>A	ENST00000380338.4	-	5	850	c.564C>T	c.(562-564)agC>agT	p.S188S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S185S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	188	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S188S(1)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		TGGTActactgctgctgctgc	0.502			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		1	Substitution - coding silent(1)	p.S188S(1)	large_intestine(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(562-564)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							77.0	84.0	82.0					9																	20414280		2203	4300	6503	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414280G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.564C>T	9.37:g.20414280G>A						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S185S|MLLT3_ENST00000355930.6_5'UTR	p.S188S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	850	-			188			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.564C>T	CCDS6494.1																																																																																				0.502	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		4	138	0	0	0	1	0	4	138				
MEX3D	399664	broad.mit.edu	37	19	1556792	1556792	+	Silent	SNP	C	C	T			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr19:1556792C>T	ENST00000402693.4	-	2	725	c.726G>A	c.(724-726)tcG>tcA	p.S242S	MEX3D_ENST00000388824.6_Silent_p.S242S|AC027307.2_ENST00000581992.1_RNA|AC027307.1_ENST00000410788.1_RNA	NM_203304.3	NP_976049.3	Q86XN8	MEX3D_HUMAN	mex-3 RNA binding family member D	242					mRNA destabilization (GO:0061157)|mRNA localization resulting in posttranscriptional regulation of gene expression (GO:0010609)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	AU-rich element binding (GO:0017091)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(1)|lung(3)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTTCGGCCGCCGACAGGATCT	0.682																																						ENST00000402693.4																			0				endometrium(1)|lung(3)	4						c.(724-726)tcG>tcA		mex-3 RNA binding family member D							29.0	29.0	29.0					19																	1556792		2200	4283	6483	SO:0001819	synonymous_variant	399664				mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis	nucleus|perinuclear region of cytoplasm	AU-rich element binding|zinc ion binding	g.chr19:1556792C>T	AB107353	CCDS32865.2	19p13.3	2013-08-21	2013-08-21	2007-07-18	ENSG00000181588	ENSG00000181588		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	16734	protein-coding gene	gene with protein product	"""bcl-2 ARE RNA binding protein"""	611009	"""ring finger and KH domain containing 1"", ""mex-3 homolog D (C. elegans)"""	RKHD1		17267406	Standard	NM_203304		Approved	Tino, KIAA2031, OK/SW-cl.4, RNF193	uc010dsn.3	Q86XN8	OTTHUMG00000150369	ENST00000402693.4:c.726G>A	19.37:g.1556792C>T						MEX3D_ENST00000388824.6_Silent_p.S242S	p.S242S	NM_203304.3	NP_976049.3	Q86XN8	MEX3D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	725	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	242					A0PJL8|A1L023|E9PAL6|Q71M49	Silent	SNP	ENST00000402693.4	37	c.726G>A	CCDS32865.2																																																																																				0.682	MEX3D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317870.2	NM_203304		27	73	0	0	0	1	0	27	73				
TLR1	7096	broad.mit.edu	37	4	38799264	38799264	+	Missense_Mutation	SNP	T	T	C	rs111596029		TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr4:38799264T>C	ENST00000502213.2	-	3	1418	c.1189A>G	c.(1189-1191)Atg>Gtg	p.M397V	TLR1_ENST00000308979.2_Missense_Mutation_p.M397V			Q15399	TLR1_HUMAN	toll-like receptor 1	397					cellular response to triacyl bacterial lipopeptide (GO:0071727)|detection of triacyl bacterial lipopeptide (GO:0042495)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|toll-like receptor 1 signaling pathway (GO:0034130)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						AGAGACTTCATCTGTGTAGTC	0.313																																					GBM(5;216 373 40795 46382)	ENST00000308979.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						c.(1189-1191)Atg>Gtg		toll-like receptor 1							39.0	41.0	40.0					4																	38799264		2199	4300	6499	SO:0001583	missense	7096				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity	g.chr4:38799264T>C	U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125		"""CD molecules"""	11847	protein-coding gene	gene with protein product		601194				9435236, 7584026	Standard	NM_003263		Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.1189A>G	4.37:g.38799264T>C	ENSP00000421259:p.Met397Val					TLR1_ENST00000502213.2_Missense_Mutation_p.M397V	p.M397V	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN			4	1462	-			397					D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Missense_Mutation	SNP	ENST00000502213.2	37	c.1189A>G	CCDS33973.1	.	.	.	.	.	.	.	.	.	.	T	11.28	1.593382	0.28357	.	.	ENSG00000174125	ENST00000308979;ENST00000502213	T;T	0.17854	2.25;2.25	5.06	5.06	0.68205	.	0.140928	0.48286	D	0.000200	T	0.38799	0.1054	L	0.60067	1.865	0.48830	D	0.999712	D	0.76494	0.999	D	0.87578	0.998	T	0.15925	-1.0420	10	0.72032	D	0.01	.	15.2692	0.73686	0.0:0.0:0.0:1.0	.	397	Q15399	TLR1_HUMAN	V	397	ENSP00000354932:M397V;ENSP00000421259:M397V	ENSP00000354932:M397V	M	-	1	0	TLR1	38475659	1.000000	0.71417	0.890000	0.34922	0.003000	0.03518	6.094000	0.71431	2.239000	0.73571	0.533000	0.62120	ATG		0.313	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360510.3			9	14	0	0	0	1	0	9	14				
UTRN	7402	broad.mit.edu	37	6	144724310	144724310	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr6:144724310G>A	ENST00000367545.3	+	2	131	c.131G>A	c.(130-132)cGa>cAa	p.R44Q		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	44	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ATAAATGCTCGATTTTCAAAG	0.393																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(130-132)cGa>cAa		utrophin							77.0	74.0	75.0					6																	144724310		2202	4300	6502	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144724310G>A	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.131G>A	6.37:g.144724310G>A	ENSP00000356515:p.Arg44Gln						p.R44Q	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	2	131	+		Ovarian(120;0.218)	44			Actin-binding.|CH 1.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.131G>A	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.014423	0.75161	.	.	ENSG00000152818	ENST00000433557;ENST00000367529;ENST00000367545;ENST00000421035	D;D;D	0.95137	-3.62;-3.52;-3.52	5.48	5.48	0.80851	Calponin homology domain (5);	0.000000	0.42964	D	0.000640	T	0.58061	0.2096	N	0.00202	-1.86	0.80722	D	1	P	0.45044	0.849	B	0.23574	0.047	T	0.82983	-0.0186	10	0.05721	T	0.95	.	18.4941	0.90858	0.0:0.0:1.0:0.0	.	44	P46939	UTRO_HUMAN	Q	44;44;44;49	ENSP00000390879:R44Q;ENSP00000356515:R44Q;ENSP00000396276:R49Q	ENSP00000356499:R44Q	R	+	2	0	UTRN	144766003	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.385000	0.66231	2.729000	0.93468	0.650000	0.86243	CGA		0.393	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			17	17	0	0	0	1	0	17	17				
MPHOSPH9	10198	broad.mit.edu	37	12	123649912	123649912	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr12:123649912G>C	ENST00000606320.1	-	18	2910	c.2704C>G	c.(2704-2706)Ctt>Gtt	p.L902V	MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.L750V|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.L872V|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.L750V			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	902						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		CCCTCATCAAGTTCTTTTAAA	0.373																																						ENST00000606320.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33						c.(2704-2706)Ctt>Gtt		M-phase phosphoprotein 9							116.0	116.0	116.0					12																	123649912		2203	4300	6503	SO:0001583	missense	10198				M phase of mitotic cell cycle	centriole|Golgi membrane		g.chr12:123649912G>C	X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.2704C>G	12.37:g.123649912G>C	ENSP00000475489:p.Leu902Val					MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.L750V|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.L872V|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.L750V	p.L902V			Q99550	MPP9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)	18	2910	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		750					A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Missense_Mutation	SNP	ENST00000606320.1	37	c.2704C>G		.	.	.	.	.	.	.	.	.	.	G	7.595	0.671475	0.14776	.	.	ENSG00000051825	ENST00000302349;ENST00000541076	T;T	0.48836	0.8;0.83	5.95	2.17	0.27698	.	0.108809	0.46145	D	0.000305	T	0.54919	0.1888	M	0.68952	2.095	0.42263	D	0.992027	D	0.61697	0.99	P	0.57502	0.822	T	0.53788	-0.8389	10	0.56958	D	0.05	-7.148	6.3973	0.21618	0.2088:0.132:0.6592:0.0	.	750	Q99550	MPP9_HUMAN	V	750	ENSP00000303597:L750V;ENSP00000445859:L750V	ENSP00000303597:L750V	L	-	1	0	MPHOSPH9	122215865	1.000000	0.71417	0.905000	0.35620	0.138000	0.21146	1.717000	0.37991	0.437000	0.26423	-0.762000	0.03455	CTT		0.373	MPHOSPH9-030	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000471390.2			6	80	0	0	0	1	0	6	80				
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr17:45128792G>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AATTCAGGTTGTCAGAATGCA	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128792G>T																													17.37:g.45128792G>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			4	34	1	0	0.00909568	1	0.00962297	4	34				
TGFBR2	7048	broad.mit.edu	37	3	30729914	30729914	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr3:30729914C>T	ENST00000295754.5	+	6	1817	c.1435C>T	c.(1435-1437)Cgg>Tgg	p.R479W	TGFBR2_ENST00000359013.4_Missense_Mutation_p.R504W	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	479	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						TTCCAAGGTGCGGGAGCACCC	0.502																																						ENST00000295754.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						c.(1435-1437)Cgg>Tgg		transforming growth factor, beta receptor II (70/80kDa)							121.0	114.0	117.0					3																	30729914		2203	4300	6503	SO:0001583	missense	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30729914C>T		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1435C>T	3.37:g.30729914C>T	ENSP00000295754:p.Arg479Trp					TGFBR2_ENST00000359013.4_Missense_Mutation_p.R504W	p.R479W	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN			6	1817	+			479			Protein kinase.		B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	ENST00000295754.5	37	c.1435C>T	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	C	18.89	3.720356	0.68959	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	D;D	0.93488	-3.23;-3.23	5.38	3.27	0.37495	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.061520	0.64402	D	0.000002	D	0.94699	0.8290	L	0.45137	1.4	0.51012	D	0.999907	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	D	0.95095	0.8225	10	0.66056	D	0.02	.	14.9901	0.71381	0.3475:0.6525:0.0:0.0	.	479;504	P37173;D2JYI1	TGFR2_HUMAN;.	W	479;504;309	ENSP00000295754:R479W;ENSP00000351905:R504W	ENSP00000295754:R479W	R	+	1	2	TGFBR2	30704918	0.871000	0.30034	1.000000	0.80357	0.987000	0.75469	-0.004000	0.12878	1.376000	0.46267	-0.293000	0.09583	CGG		0.502	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2			28	86	0	0	0	1	0	28	86				
ASPH	444	broad.mit.edu	37	8	62460709	62460709	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr8:62460709C>T	ENST00000379454.4	-	21	1872	c.1685G>A	c.(1684-1686)cGc>cAc	p.R562H	ASPH_ENST00000541428.1_Missense_Mutation_p.R533H	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	562					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	GTAGAGTGAGCGTTGCCAGAC	0.448																																						ENST00000541428.1																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1597-1599)cGc>cAc		aspartate beta-hydroxylase	L-Aspartic Acid(DB00128)|Succinic acid(DB00139)						177.0	149.0	158.0					8																	62460709		2203	4300	6503	SO:0001583	missense	444				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle	g.chr8:62460709C>T	AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"""junctin"", ""humbug"", ""junctate"""	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.1685G>A	8.37:g.62460709C>T	ENSP00000368767:p.Arg562His					ASPH_ENST00000379454.4_Missense_Mutation_p.R562H	p.R533H	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN			21	1758	-	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)	562					A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Missense_Mutation	SNP	ENST00000379454.4	37	c.1598G>A	CCDS34898.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.872213	0.91587	.	.	ENSG00000198363	ENST00000541428;ENST00000379454	T;T	0.37584	1.2;1.19	5.69	4.82	0.62117	.	0.054433	0.64402	N	0.000001	T	0.63236	0.2494	M	0.83774	2.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.69844	-0.5035	10	0.87932	D	0	-9.1666	14.5087	0.67769	0.0:0.9298:0.0:0.0702	.	533;562	F5H667;Q12797	.;ASPH_HUMAN	H	533;562	ENSP00000437864:R533H;ENSP00000368767:R562H	ENSP00000368767:R562H	R	-	2	0	ASPH	62623263	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.327000	0.79147	1.410000	0.46936	0.650000	0.86243	CGC		0.448	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3	NM_004318		35	58	0	0	0	1	0	35	58				
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	T	rs121913499		TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr2:209113113G>T	ENST00000415913.1	-	4	775	c.394C>A	c.(394-396)Cgt>Agt	p.R132S	IDH1_ENST00000446179.1_Missense_Mutation_p.R132S|IDH1_ENST00000345146.2_Missense_Mutation_p.R132S	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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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)		TAAGCATGACGACCTATGATG	0.398			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		679	Substitution - Missense(678)|Complex - compound substitution(1)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(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>Agt		isocitrate dehydrogenase 1 (NADP+), soluble							81.0	74.0	76.0					2																	209113113		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.chr2:209113113G>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.394C>A	2.37:g.209113113G>T	ENSP00000390265:p.Arg132Ser					IDH1_ENST00000446179.1_Missense_Mutation_p.R132S|IDH1_ENST00000345146.2_Missense_Mutation_p.R132S	p.R132S			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	775	-			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.394C>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.588857	0.86851	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.96519	0.8864	H	0.99379	4.54	0.80722	D	1	D	0.57899	0.981	P	0.60682	0.878	D	0.98220	1.0477	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	S	132	ENSP00000260985:R132S;ENSP00000410513:R132S;ENSP00000390265:R132S;ENSP00000391075:R132S	ENSP00000260985:R132S	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			29	34	1	0	1.12875e-08	1	1.28748e-08	29	34				
PRAMEF2	65122	broad.mit.edu	37	1	12919085	12919085	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr1:12919085A>G	ENST00000240189.2	+	2	308	c.221A>G	c.(220-222)cAt>cGt	p.H74R		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	74					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AAGACGCTTCATCTGGAGCCA	0.562																																						ENST00000240189.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42						c.(220-222)cAt>cGt		PRAME family member 2							154.0	165.0	161.0					1																	12919085		2201	4296	6497	SO:0001583	missense	65122							g.chr1:12919085A>G		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"""-"""	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.221A>G	1.37:g.12919085A>G	ENSP00000240189:p.His74Arg						p.H74R	NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	308	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	74						Missense_Mutation	SNP	ENST00000240189.2	37	c.221A>G	CCDS149.1	.	.	.	.	.	.	.	.	.	.	A	10.45	1.353537	0.24512	.	.	ENSG00000120952	ENST00000240189	T	0.04454	3.62	0.842	0.842	0.18927	.	1.750250	0.03025	N	0.151314	T	0.10981	0.0268	M	0.72576	2.205	0.09310	N	1	P	0.43885	0.82	P	0.46796	0.527	T	0.22871	-1.0204	10	0.52906	T	0.07	.	3.9732	0.09462	1.0:0.0:0.0:0.0	.	74	O60811	PRAM2_HUMAN	R	74	ENSP00000240189:H74R	ENSP00000240189:H74R	H	+	2	0	PRAMEF2	12841672	0.000000	0.05858	0.048000	0.18961	0.047000	0.14425	0.442000	0.21628	0.633000	0.30452	0.163000	0.16589	CAT		0.562	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		23	223	0	0	0	1	0	23	223				
MUC16	94025	broad.mit.edu	37	19	9080468	9080468	+	Missense_Mutation	SNP	G	G	T	rs576604168	byFrequency	TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr19:9080468G>T	ENST00000397910.4	-	2	9766	c.9563C>A	c.(9562-9564)aCg>aAg	p.T3188K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3189	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTGCTCCCCGTCTCCTCTGC	0.463																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(9562-9564)aCg>aAg		mucin 16, cell surface associated							138.0	135.0	136.0					19																	9080468		1928	4114	6042	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9080468G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.9563C>A	19.37:g.9080468G>T	ENSP00000381008:p.Thr3188Lys						p.T3188K	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			2	9766	-			3189			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.9563C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	1.423	-0.572279	0.03882	.	.	ENSG00000181143	ENST00000397910	T	0.02472	4.28	0.926	-0.199	0.13220	.	.	.	.	.	T	0.03477	0.0100	N	0.08118	0	.	.	.	D	0.71674	0.998	D	0.64776	0.929	T	0.44682	-0.9312	8	0.87932	D	0	.	3.1256	0.06406	0.3343:0.0:0.6657:0.0	.	3188	B5ME49	.	K	3188	ENSP00000381008:T3188K	ENSP00000381008:T3188K	T	-	2	0	MUC16	8941468	0.001000	0.12720	0.007000	0.13788	0.008000	0.06430	-0.155000	0.10115	-0.052000	0.13311	0.313000	0.20887	ACG		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		4	128	1	0	0.00024832	1	0.000274657	4	128				
SERINC2	347735	broad.mit.edu	37	1	31901854	31901854	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr1:31901854G>T	ENST00000373709.3	+	7	960	c.810G>T	c.(808-810)caG>caT	p.Q270H	SERINC2_ENST00000536384.1_Missense_Mutation_p.Q274H|SERINC2_ENST00000373710.1_Missense_Mutation_p.Q279H|SERINC2_ENST00000536859.1_Missense_Mutation_p.Q274H|SERINC2_ENST00000491976.1_3'UTR	NM_178865.4	NP_849196.2	Q96SA4	SERC2_HUMAN	serine incorporator 2	270					phosphatidylserine metabolic process (GO:0006658)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	L-serine transmembrane transporter activity (GO:0015194)			cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		GTCTGCTGCAGGCCTCGGTCA	0.627																																						ENST00000373710.1																			0				cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12						c.(835-837)caG>caT		serine incorporator 2							145.0	137.0	140.0					1																	31901854		2203	4300	6503	SO:0001583	missense	347735					integral to membrane		g.chr1:31901854G>T	AY094595	CCDS30662.1, CCDS55583.1, CCDS55584.1, CCDS55585.1	1p35.1	2008-02-05	2005-11-01	2005-11-01	ENSG00000168528	ENSG00000168528			23231	protein-coding gene	gene with protein product		614549	"""tumor differentially expressed 2-like"""	TDE2L		12949800	Standard	NM_178865		Approved	FKSG84, PRO0899, TDE2	uc010ogh.2	Q96SA4	OTTHUMG00000003796	ENST00000373709.3:c.810G>T	1.37:g.31901854G>T	ENSP00000362813:p.Gln270His					SERINC2_ENST00000536384.1_Missense_Mutation_p.Q274H|SERINC2_ENST00000373709.3_Missense_Mutation_p.Q270H|SERINC2_ENST00000536859.1_Missense_Mutation_p.Q274H|SERINC2_ENST00000491976.1_3'UTR	p.Q279H	NM_001199038.1	NP_001185967.1	Q96SA4	SERC2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)	8	1110	+		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)	270					A0AVB4|B4DJK5|B7Z567|B7ZAP2|E7EUZ9|Q86Y23	Missense_Mutation	SNP	ENST00000373709.3	37	c.837G>T	CCDS30662.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.961253	0.74016	.	.	ENSG00000168528	ENST00000373710;ENST00000536859;ENST00000373709;ENST00000536384	T;T;T;T	0.19806	2.12;2.12;2.12;2.12	4.71	3.78	0.43462	.	0.000000	0.85682	D	0.000000	T	0.52041	0.1710	M	0.93638	3.44	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.58364	-0.7649	10	0.87932	D	0	-25.4	7.7671	0.28986	0.1982:0.0:0.8018:0.0	.	274;279;270	B4DJK5;E7EUZ9;Q96SA4	.;.;SERC2_HUMAN	H	279;274;270;274	ENSP00000362814:Q279H;ENSP00000444307:Q274H;ENSP00000362813:Q270H;ENSP00000439048:Q274H	ENSP00000362813:Q270H	Q	+	3	2	SERINC2	31674441	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.700000	0.61803	1.169000	0.42739	0.655000	0.94253	CAG		0.627	SERINC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010680.1	NM_018565		9	222	1	0	0.00621372	1	0.00677017	9	222				
AOX1	316	broad.mit.edu	37	2	201527642	201527642	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr2:201527642G>A	ENST00000374700.2	+	31	3734	c.3493G>A	c.(3493-3495)Gga>Aga	p.G1165R	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	1165					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CTTTGTTTATGGAGCTGCCTG	0.473																																						ENST00000374700.2																			0				breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81						c.(3493-3495)Gga>Aga		aldehyde oxidase 1	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						161.0	152.0	155.0					2																	201527642		2203	4300	6503	SO:0001583	missense	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201527642G>A	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.3493G>A	2.37:g.201527642G>A	ENSP00000363832:p.Gly1165Arg					AOX1_ENST00000485106.1_3'UTR	p.G1165R	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN			31	3734	+			1165					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	c.3493G>A	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	G	32	5.151706	0.94645	.	.	ENSG00000138356	ENST00000374700;ENST00000260930;ENST00000439380	T;T;T	0.61742	0.08;0.08;0.08	5.91	5.91	0.95273	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.052866	0.85682	D	0.000000	D	0.87132	0.6101	H	0.98802	4.335	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91625	0.5314	10	0.87932	D	0	-47.4914	20.3011	0.98612	0.0:0.0:1.0:0.0	.	1165	Q06278	ADO_HUMAN	R	1165;51;5	ENSP00000363832:G1165R;ENSP00000260930:G51R;ENSP00000413326:G5R	ENSP00000260930:G51R	G	+	1	0	AOX1	201235887	1.000000	0.71417	0.977000	0.42913	0.938000	0.57974	9.645000	0.98471	2.809000	0.96659	0.555000	0.69702	GGA		0.473	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		39	41	0	0	0	1	0	39	41				
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C	rs372167638		TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	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			3	36	0	0	0	1	0	3	36				
GANC	2595	broad.mit.edu	37	15	42600494	42600494	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr15:42600494T>C	ENST00000318010.8	+	8	940	c.700T>C	c.(700-702)Tca>Cca	p.S234P	GANC_ENST00000566442.1_Missense_Mutation_p.S234P	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	234					carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)	Miglitol(DB00491)	ACATGCAGAATCACACCAACT	0.393																																						ENST00000318010.8																			0				breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(700-702)Tca>Cca		glucosidase, alpha; neutral C							188.0	195.0	193.0					15																	42600494		2203	4299	6502	SO:0001583	missense	2595				carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity	g.chr15:42600494T>C	AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	3.2.1.20		4139	protein-coding gene	gene with protein product		104180				6995030, 12370436	Standard	NM_198141		Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	ENST00000318010.8:c.700T>C	15.37:g.42600494T>C	ENSP00000326227:p.Ser234Pro					GANC_ENST00000566442.1_Missense_Mutation_p.S234P	p.S234P	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN		GBM - Glioblastoma multiforme(94;1.06e-06)	8	940	+		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)	234					Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Missense_Mutation	SNP	ENST00000318010.8	37	c.700T>C	CCDS10084.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.224545	0.79576	.	.	ENSG00000214013	ENST00000318010	T	0.18960	2.18	5.64	4.48	0.54585	Glycoside hydrolase-type carbohydrate-binding (1);	0.542911	0.19430	N	0.114478	T	0.17238	0.0414	L	0.28556	0.865	0.49582	D	0.999802	B;B	0.17465	0.022;0.016	B;B	0.26693	0.072;0.06	T	0.04825	-1.0924	10	0.62326	D	0.03	-8.8531	9.937	0.41556	0.2938:0.0:0.0:0.7062	.	234;234	Q8TET4;Q2M2A3	GANC_HUMAN;.	P	234	ENSP00000326227:S234P	ENSP00000326227:S234P	S	+	1	0	GANC	40387786	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.709000	0.47160	2.142000	0.66516	0.523000	0.50628	TCA		0.393	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252887.2	NM_198141		52	94	0	0	0	1	0	52	94				
ATRX	546	broad.mit.edu	37	X	76875911	76875911	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chrX:76875911T>C	ENST00000373344.5	-	20	5438	c.5224A>G	c.(5224-5226)Agg>Ggg	p.R1742G	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.R1704G	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1742	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.		R -> K (in ATRX; atypical; patients presents spastic paraplegia at birth). {ECO:0000269|PubMed:10417298}.		ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						ATAATCCTCCTCCTTGATCGT	0.328			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(5224-5226)Agg>Ggg		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						85.0	71.0	76.0					X																	76875911		2202	4293	6495	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76875911T>C	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5224A>G	X.37:g.76875911T>C	ENSP00000362441:p.Arg1742Gly					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.R1704G	p.R1742G	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			20	5438	-			1742		R -> K (in ATRX; atypical; patients presents spastic paraplegia at birth).	Helicase ATP-binding.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.5224A>G	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	T	18.72	3.683906	0.68157	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.93133	-3.17;-3.17	4.57	4.57	0.56435	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.96889	0.8984	M	0.88704	2.975	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.91635	0.99;0.999	D	0.97440	1.0021	10	0.87932	D	0	-8.0158	13.1604	0.59540	0.0:0.0:0.0:1.0	.	1704;1742	P46100-4;P46100	.;ATRX_HUMAN	G	1742;1704	ENSP00000362441:R1742G;ENSP00000378967:R1704G	ENSP00000362441:R1742G	R	-	1	2	ATRX	76762567	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.613000	0.54152	1.475000	0.48197	0.486000	0.48141	AGG		0.328	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		29	8	0	0	0	1	0	29	8				
C2CD5	9847	broad.mit.edu	37	12	22643145	22643145	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr12:22643145C>A	ENST00000333957.4	-	12	1525	c.1270G>T	c.(1270-1272)Gtc>Ttc	p.V424F	C2CD5_ENST00000544930.1_Missense_Mutation_p.V239F|C2CD5_ENST00000396028.2_Missense_Mutation_p.V415F|C2CD5_ENST00000446597.1_Missense_Mutation_p.V424F|C2CD5_ENST00000545552.1_Missense_Mutation_p.V437F|C2CD5_ENST00000536386.1_Missense_Mutation_p.V426F|C2CD5_ENST00000542676.1_Missense_Mutation_p.V424F	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	424					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)										AAAATGCAGACCTCTTCACTA	0.388																																						ENST00000333957.4																			0											c.(1270-1272)Gtc>Ttc		C2 calcium-dependent domain containing 5							63.0	61.0	62.0					12																	22643145		2203	4300	6503	SO:0001583	missense	9847							g.chr12:22643145C>A	AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"""138 kDa C2 domain-containing phosphoprotein"""		"""KIAA0528"""	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.1270G>T	12.37:g.22643145C>A	ENSP00000334229:p.Val424Phe					C2CD5_ENST00000542676.1_Missense_Mutation_p.V424F|C2CD5_ENST00000396028.2_Missense_Mutation_p.V415F|C2CD5_ENST00000536386.1_Missense_Mutation_p.V426F|C2CD5_ENST00000545552.1_Missense_Mutation_p.V437F|C2CD5_ENST00000544930.1_Missense_Mutation_p.V239F|C2CD5_ENST00000446597.1_Missense_Mutation_p.V424F	p.V424F	NM_014802.1	NP_055617.1					12	1525	-								B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Missense_Mutation	SNP	ENST00000333957.4	37	c.1270G>T	CCDS31758.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.5|28.5	4.928137|4.928137	0.92389|0.92389	.|.	.|.	ENSG00000111731|ENSG00000111731	ENST00000535555|ENST00000333957;ENST00000446597;ENST00000536386;ENST00000396028;ENST00000542676;ENST00000545552;ENST00000544930	.|T;T;T;T;T;T;T	.|0.55930	.|0.49;0.49;0.49;0.49;0.49;0.49;0.49	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	.|0.073503	.|0.53938	.|D	.|0.000047	T|T	0.71813|0.71813	0.3384|0.3384	M|M	0.75085|0.75085	2.285|2.285	0.80722|0.80722	D|D	1|1	.|D;P;D;P;D;D	.|0.64830	.|0.959;0.814;0.986;0.929;0.98;0.994	.|P;B;D;P;P;P	.|0.63703	.|0.82;0.386;0.917;0.748;0.871;0.829	T|T	0.74853|0.74853	-0.3523|-0.3523	5|10	.|0.87932	.|D	.|0	-5.9095|-5.9095	17.7964|17.7964	0.88572|0.88572	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|426;424;239;426;415;424	.|F5H2A1;B4DRN7;F5H3N1;B7ZLL0;Q86YS7-2;Q86YS7	.|.;.;.;.;.;K0528_HUMAN	V|F	121|424;424;426;415;424;437;239	.|ENSP00000334229:V424F;ENSP00000388756:V424F;ENSP00000439392:V426F;ENSP00000379345:V415F;ENSP00000441951:V424F;ENSP00000443204:V437F;ENSP00000445288:V239F	.|ENSP00000334229:V424F	G|V	-|-	2|1	0|0	KIAA0528|KIAA0528	22534412|22534412	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.990000|6.990000	0.76225|0.76225	2.633000|2.633000	0.89246|0.89246	0.579000|0.579000	0.79373|0.79373	GGT|GTC		0.388	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1	NM_014802		12	32	1	0	0.0167234	1	0.0171945	12	32				
NSUN5	55695	broad.mit.edu	37	7	72717707	72717707	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr7:72717707G>C	ENST00000252594.6	-	9	1191	c.1176C>G	c.(1174-1176)caC>caG	p.H392Q	NSUN5_ENST00000310326.8_Missense_Mutation_p.H392Q|NSUN5_ENST00000428206.1_Missense_Mutation_p.H354Q|NSUN5_ENST00000438747.2_Missense_Mutation_p.H392Q			Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	392					rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				TCAGGCCTCGGTGGGGCCAGG	0.662																																						ENST00000428206.1																			0				breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.(1060-1062)caC>caG		NOP2/Sun domain family, member 5							37.0	38.0	38.0					7																	72717707		2203	4299	6502	SO:0001583	missense	55695						methyltransferase activity	g.chr7:72717707G>C	AF420249	CCDS5546.1, CCDS5547.1, CCDS55118.1, CCDS55119.1	7q11.23	2010-04-08	2009-11-23	2005-01-14	ENSG00000130305	ENSG00000130305		"""NOP2/Sun domain containing"""	16385	protein-coding gene	gene with protein product	"""NOP2/Sun domain family, member 5A"""	615732	"""Williams Beuren syndrome chromosome region 20A"", ""NOL1/NOP2/Sun domain family, member 5"""	WBSCR20, WBSCR20A		11978965, 12073013	Standard	NM_148956		Approved	NOL1R, p120, (NOL1), FLJ10267, NSUN5A, Ynl022cL	uc011kev.2	Q96P11	OTTHUMG00000129869	ENST00000252594.6:c.1176C>G	7.37:g.72717707G>C	ENSP00000252594:p.His392Gln					NSUN5_ENST00000252594.6_Missense_Mutation_p.H392Q|NSUN5_ENST00000310326.8_Missense_Mutation_p.H392Q|NSUN5_ENST00000438747.2_Missense_Mutation_p.H392Q	p.H354Q	NM_001168348.1	NP_001161820.1	Q96P11	NSUN5_HUMAN			9	1075	-		Lung NSC(55;0.163)	392					B3KX04|B4DP79|G3V0G9|Q6ZUI8|Q96HT9|Q9NW70	Missense_Mutation	SNP	ENST00000252594.6	37	c.1062C>G	CCDS5547.1	.	.	.	.	.	.	.	.	.	.	.	2.866	-0.235114	0.05983	.	.	ENSG00000130305	ENST00000428206;ENST00000252594;ENST00000438747;ENST00000310326	T;T;T;T	0.19806	2.12;2.12;2.12;2.12	4.44	0.16	0.14972	Bacterial Fmu (Sun)/eukaryotic nucleolar NOL1/Nop2p (1);	0.429308	0.29501	N	0.011961	T	0.11793	0.0287	L	0.28344	0.845	0.23168	N	0.998183	B;B;B;B	0.25272	0.082;0.056;0.079;0.122	B;B;B;B	0.21360	0.034;0.008;0.03;0.016	T	0.21042	-1.0257	10	0.33940	T	0.23	.	7.7321	0.28793	0.1674:0.3482:0.4844:0.0	.	392;354;392;392	B4DP79;G3V0G9;Q96P11;Q96P11-2	.;.;NSUN5_HUMAN;.	Q	354;392;392;392	ENSP00000393081:H354Q;ENSP00000252594:H392Q;ENSP00000388464:H392Q;ENSP00000309126:H392Q	ENSP00000252594:H392Q	H	-	3	2	NSUN5	72355643	0.880000	0.30214	0.993000	0.49108	0.127000	0.20565	-0.190000	0.09615	0.134000	0.18681	0.472000	0.43445	CAC		0.662	NSUN5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252113.1	NM_148956		16	75	0	0	0	1	0	16	75				
SOWAHA	134548	broad.mit.edu	37	5	132149637	132149637	+	Silent	SNP	G	G	T			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr5:132149637G>T	ENST00000378693.2	+	1	605	c.324G>T	c.(322-324)acG>acT	p.T108T		NM_175873.4	NP_787069.3	Q2M3V2	SWAHA_HUMAN	sosondowah ankyrin repeat domain family member A	108	Pro-rich.																CCACTTCGACGGTCTTGCCGC	0.746																																						ENST00000378693.2																			0											c.(322-324)acG>acT		sosondowah ankyrin repeat domain family member A							5.0	7.0	6.0					5																	132149637		1460	3309	4769	SO:0001819	synonymous_variant	134548							g.chr5:132149637G>T	AK090823	CCDS43361.1	5q23.3	2013-01-10	2012-01-12	2012-01-12	ENSG00000198944	ENSG00000198944		"""Ankyrin repeat domain containing"""	27033	protein-coding gene	gene with protein product			"""ankyrin repeat domain 43"""	ANKRD43		22234889	Standard	NM_175873		Approved		uc003kxw.3	Q2M3V2	OTTHUMG00000059844	ENST00000378693.2:c.324G>T	5.37:g.132149637G>T							p.T108T	NM_175873.4	NP_787069.3	Q2M3V2	ANR43_HUMAN			1	605	+			108			Pro-rich.		Q8NAE7	Silent	SNP	ENST00000378693.2	37	c.324G>T	CCDS43361.1																																																																																				0.746	SOWAHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133062.1	NM_175873		2	1	1	0	1	1	1	2	1				
RBFOX2	23543	broad.mit.edu	37	22	36205927	36205927	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr22:36205927G>A	ENST00000438146.2	-	3	361	c.362C>T	c.(361-363)gCc>gTc	p.A121V	RBFOX2_ENST00000416721.2_Missense_Mutation_p.A51V|RBFOX2_ENST00000262829.7_Missense_Mutation_p.A51V|RBFOX2_ENST00000359369.4_Missense_Mutation_p.A31V|RBFOX2_ENST00000414461.2_Missense_Mutation_p.A51V|RBFOX2_ENST00000397303.2_Missense_Mutation_p.A31V|RBFOX2_ENST00000405409.2_Missense_Mutation_p.A51V|RBFOX2_ENST00000449924.2_Missense_Mutation_p.A51V	NM_001082578.1|NM_001082579.1	NP_001076047|NP_001076048.1	O43251	RFOX2_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 2	61	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				dendrite morphogenesis (GO:0048813)|intracellular estrogen receptor signaling pathway (GO:0030520)|mRNA processing (GO:0006397)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of cell proliferation (GO:0042127)|regulation of definitive erythrocyte differentiation (GO:0010724)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(4)|large_intestine(7)|lung(7)	18						GGTCTGGCCGGCATAGTCTTG	0.542																																						ENST00000405409.2																			0				endometrium(4)|large_intestine(7)|lung(7)	18						c.(151-153)gCc>gTc		RNA binding protein, fox-1 homolog (C. elegans) 2							248.0	211.0	224.0					22																	36205927		2203	4300	6503	SO:0001583	missense	23543				estrogen receptor signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of cell proliferation|RNA splicing	cytoplasm|nucleus	nucleotide binding|RNA binding|transcription corepressor activity|transcription factor binding	g.chr22:36205927G>A	AL009266	CCDS13921.1, CCDS43013.1, CCDS46699.1, CCDS46700.1, CCDS46701.1	22q12-q13	2013-02-12	2010-09-10	2010-09-10	ENSG00000100320	ENSG00000100320		"""RNA binding motif (RRM) containing"""	9906	protein-coding gene	gene with protein product	"""hexaribonucleotide binding protein 2"""	612149	"""RNA binding motif protein 9"""	RBM9			Standard	NM_014309		Approved	HNRBP2, FOX-2, HRNBP2	uc003aon.4	O43251	OTTHUMG00000150585	ENST00000438146.2:c.362C>T	22.37:g.36205927G>A	ENSP00000413035:p.Ala121Val					RBFOX2_ENST00000438146.2_Missense_Mutation_p.A121V|RBFOX2_ENST00000416721.2_Missense_Mutation_p.A51V|RBFOX2_ENST00000397303.2_Missense_Mutation_p.A31V|RBFOX2_ENST00000449924.2_Missense_Mutation_p.A51V|RBFOX2_ENST00000414461.2_Missense_Mutation_p.A51V|RBFOX2_ENST00000359369.4_Missense_Mutation_p.A31V|RBFOX2_ENST00000262829.7_Missense_Mutation_p.A51V	p.A51V	NM_001031695.2|NM_001082576.1|NM_001082577.1|NM_014309.2	NP_001026865.1|NP_001076045.1|NP_001076046.1|NP_055124.1	O43251	RFOX2_HUMAN			2	520	-			61					A4F5G8|A8K5Z5|B0QYY8|B0QYY9|Q0PRL5|Q0VH35|Q5TF71|Q6IC09|Q8TD00|Q8WYB1|Q96DZ6|Q96NL7|Q9UGW4|Q9UH33	Missense_Mutation	SNP	ENST00000438146.2	37	c.152C>T	CCDS43013.1	.	.	.	.	.	.	.	.	.	.	G	36	5.778134	0.96929	.	.	ENSG00000100320	ENST00000405409;ENST00000338644;ENST00000414461;ENST00000449924;ENST00000262829;ENST00000397303;ENST00000359369;ENST00000416721;ENST00000438146;ENST00000408983;ENST00000397305	T;T;T;T;T;T;T;T	0.52754	1.44;1.26;0.69;0.99;1.38;0.95;0.65;1.66	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.66499	0.2795	L	0.54323	1.7	0.54753	D	0.999982	D;D;D;D;P;D;D;P;P;D	0.67145	0.996;0.974;0.975;0.975;0.939;0.996;0.995;0.913;0.925;0.974	P;P;P;P;B;D;P;P;P;P	0.70935	0.874;0.72;0.647;0.647;0.376;0.971;0.885;0.614;0.644;0.595	T	0.67070	-0.5763	10	0.87932	D	0	.	20.0065	0.97435	0.0:0.0:1.0:0.0	.	31;61;121;121;51;51;51;51;51;31	B0QYY4;O43251;O43251-6;O43251-8;O43251-3;O43251-5;O43251-9;O43251-10;O43251-4;B0QYV1	.;RFOX2_HUMAN;.;.;.;.;.;.;.;.	V	51;61;51;51;51;31;31;51;121;73;31	ENSP00000384944:A51V;ENSP00000407855:A51V;ENSP00000391670:A51V;ENSP00000380470:A31V;ENSP00000352328:A31V;ENSP00000405651:A51V;ENSP00000413035:A121V;ENSP00000386177:A73V	ENSP00000262829:A51V	A	-	2	0	RBFOX2	34535873	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.346000	0.90060	2.713000	0.92767	0.655000	0.94253	GCC		0.542	RBFOX2-005	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319299.3			4	203	0	0	0	1	0	4	203				
GOLGA8DP	100132979	broad.mit.edu	37	15	22709637	22709637	+	RNA	SNP	T	T	G	rs375512037		TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr15:22709637T>G	ENST00000314246.8	-	0	1147				RN7SL545P_ENST00000495815.2_RNA			Q0D2H9	GOG8D_HUMAN	golgin A8 family, member D, pseudogene							Golgi apparatus (GO:0005794)											CCCATCTGGTTTTTGAGTTTG	0.547																																						ENST00000314246.8																			0																																																			0							g.chr15:22709637T>G			15q11.2	2014-04-10	2011-04-15	2010-02-12	ENSG00000185182	ENSG00000185182			32376	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 8D"""	GOLGA8D		12477932	Standard	NR_027407		Approved		uc010axw.2	Q0D2H9	OTTHUMG00000171882		15.37:g.22709637T>G														0	1147	-									RNA	SNP	ENST00000314246.8	37			.	.	.	.	.	.	.	.	.	.	t	4.705	0.131021	0.08981	.	.	ENSG00000185182	ENST00000341390;ENST00000314246;ENST00000317692	.	.	.	0.921	0.921	0.19403	.	.	.	.	.	T	0.23330	0.0564	.	.	.	.	.	.	B	0.10296	0.003	B	0.08055	0.003	T	0.20773	-1.0265	6	0.25751	T	0.34	.	4.1761	0.10353	0.0:0.0:0.0:1.0	.	84	F8WBT8	.	H	84;84;302	.	ENSP00000327024:N84H	N	-	1	0	AC116165.1	20261001	0.018000	0.18449	0.020000	0.16555	0.004000	0.04260	2.215000	0.42862	0.684000	0.31448	0.228000	0.17796	AAC		0.547	GOLGA8DP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415613.1	NR_027407		7	319	0	0	0	1	0	7	319				
NLRP1	22861	broad.mit.edu	37	17	5442862	5442862	+	Missense_Mutation	SNP	C	C	T	rs148522172		TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr17:5442862C>T	ENST00000572272.1	-	7	2742	c.2743G>A	c.(2743-2745)Gcc>Acc	p.A915T	NLRP1_ENST00000577119.1_Missense_Mutation_p.A915T|NLRP1_ENST00000269280.4_Missense_Mutation_p.A915T|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000345221.3_Missense_Mutation_p.A915T|NLRP1_ENST00000262467.5_Missense_Mutation_p.A915T|NLRP1_ENST00000354411.3_Missense_Mutation_p.A915T			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	915					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				AGCACAGAGGCCAGGTCCTGG	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		18311	0.001		0.0	False		,,,				2504	0.0					ENST00000345221.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(2743-2745)Gcc>Acc		NLR family, pyrin domain containing 1		C	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	2,4404	4.2+/-10.8	0,2,2201	56.0	43.0	47.0		2743,2743,2743,2743,2743	1.8	0.4	17	dbSNP_134	47	0,8598		0,0,4299	yes	missense,missense,missense,missense,missense	NLRP1	NM_001033053.2,NM_014922.4,NM_033004.3,NM_033006.3,NM_033007.3	58,58,58,58,58	0,2,6500	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	915/1376,915/1430,915/1474,915/1444,915/1400	5442862	2,13002	2203	4299	6502	SO:0001583	missense	22861				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	g.chr17:5442862C>T	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.2743G>A	17.37:g.5442862C>T	ENSP00000460475:p.Ala915Thr					NLRP1_ENST00000572272.1_Missense_Mutation_p.A915T|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000269280.4_Missense_Mutation_p.A915T|NLRP1_ENST00000262467.5_Missense_Mutation_p.A915T|NLRP1_ENST00000354411.3_Missense_Mutation_p.A915T|NLRP1_ENST00000577119.1_Missense_Mutation_p.A915T	p.A915T	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN			7	3297	-		Colorectal(1115;3.48e-05)	915					E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	ENST00000572272.1	37	c.2743G>A	CCDS42246.1	14	0.00641025641025641	6	0.012195121951219513	2	0.0055248618784530384	3	0.005244755244755245	3	0.00395778364116095	C	24.9	4.586057	0.86748	4.54E-4	0.0	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411;ENST00000345221;ENST00000537069	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	3.79	1.78	0.24846	.	0.451121	0.16515	N	0.211066	T	0.43545	0.1252	M	0.70108	2.13	0.23180	N	0.998167	D;P;P;P;P;P	0.54397	0.966;0.923;0.923;0.64;0.911;0.855	P;B;B;B;P;B	0.56563	0.801;0.355;0.355;0.222;0.55;0.348	T	0.31752	-0.9932	10	0.72032	D	0.01	.	6.0859	0.19966	0.0:0.7645:0.0:0.2355	.	181;915;915;915;915;915	F5H042;Q9C000-3;Q9C000-4;Q9C000;Q9C000-2;E9PE50	.;.;.;NALP1_HUMAN;.;.	T	915;915;915;915;915;181	ENSP00000442029:A915T;ENSP00000262467:A915T;ENSP00000269280:A915T;ENSP00000346390:A915T;ENSP00000324366:A915T	ENSP00000262467:A915T	A	-	1	0	NLRP1	5383586	1.000000	0.71417	0.448000	0.26945	0.755000	0.42902	0.672000	0.25187	0.578000	0.29487	0.650000	0.86243	GCC		0.612	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		6	42	0	0	0	1	0	6	42				
SLC2A5	6518	broad.mit.edu	37	1	9099884	9099884	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr1:9099884C>T	ENST00000377424.4	-	7	1039	c.860G>A	c.(859-861)gGc>gAc	p.G287D	SLC2A5_ENST00000536305.1_Missense_Mutation_p.G228D|SLC2A5_ENST00000535586.1_Missense_Mutation_p.G172D	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	287					carbohydrate metabolic process (GO:0005975)|cellular response to fructose stimulus (GO:0071332)|fructose transport (GO:0015755)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fructose transmembrane transporter activity (GO:0005353)|glucose transmembrane transporter activity (GO:0005355)			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CAGCTGCTGGCCGCCCATGAG	0.721																																						ENST00000377424.4																			0				endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36						c.(859-861)gGc>gAc		solute carrier family 2 (facilitated glucose/fructose transporter), member 5							10.0	11.0	11.0					1																	9099884		2185	4277	6462	SO:0001583	missense	6518				carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity	g.chr1:9099884C>T	BC001820	CCDS99.1, CCDS44054.1	1p36.2	2013-05-22			ENSG00000142583	ENSG00000142583		"""Solute carriers"""	11010	protein-coding gene	gene with protein product		138230		GLUT5		9691177	Standard	NM_003039		Approved		uc001apo.3	P22732	OTTHUMG00000001771	ENST00000377424.4:c.860G>A	1.37:g.9099884C>T	ENSP00000366641:p.Gly287Asp					SLC2A5_ENST00000535586.1_Missense_Mutation_p.G172D|SLC2A5_ENST00000536305.1_Missense_Mutation_p.G228D	p.G287D	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	7	1039	-	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	287					Q14770|Q5T977|Q8IVB3	Missense_Mutation	SNP	ENST00000377424.4	37	c.860G>A	CCDS99.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.471829	0.84533	.	.	ENSG00000142583	ENST00000377424;ENST00000456780;ENST00000536305;ENST00000535586	T;T;T	0.59906	0.23;0.23;0.23	5.24	5.24	0.73138	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.82309	0.5009	M	0.93328	3.405	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.80764	0.989;0.994;0.986	D	0.87097	0.2176	10	0.72032	D	0.01	.	17.4065	0.87475	0.0:1.0:0.0:0.0	.	243;228;287	B4DG19;B4DU31;P22732	.;.;GTR5_HUMAN	D	287;270;228;172	ENSP00000366641:G287D;ENSP00000440688:G228D;ENSP00000442744:G172D	ENSP00000366641:G287D	G	-	2	0	SLC2A5	9022471	1.000000	0.71417	0.997000	0.53966	0.374000	0.29953	4.471000	0.60182	2.441000	0.82636	0.655000	0.94253	GGC		0.721	SLC2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004932.1	NM_003039		9	22	0	0	0	1	0	9	22				
RHO	6010	broad.mit.edu	37	3	129251555	129251555	+	Silent	SNP	G	G	A	rs145004306		TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr3:129251555G>A	ENST00000296271.3	+	4	970	c.876G>A	c.(874-876)gcG>gcA	p.A292A		NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN	rhodopsin	292			A -> E (in CSNBAD1). {ECO:0000269|PubMed:8358437}.		G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction, visible light (GO:0007603)|protein phosphorylation (GO:0006468)|protein-chromophore linkage (GO:0018298)|red, far-red light phototransduction (GO:0009585)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|retinoid metabolic process (GO:0001523)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cell-cell junction (GO:0005911)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|photoreceptor inner segment membrane (GO:0060342)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|rough endoplasmic reticulum membrane (GO:0030867)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)|photoreceptor activity (GO:0009881)|retinal binding (GO:0016918)			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	CCATCCCAGCGTTCTTTGCCA	0.582													A|||	1	0.000199681	0.0	0.0	5008	,	,		20499	0.001		0.0	False		,,,				2504	0.0				Esophageal Squamous(118;214 1623 30842 43234 46940)	ENST00000296271.3																			0				breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(874-876)gcG>gcA		rhodopsin	Halothane(DB01159)	A		0,4406		0,0,2203	153.0	137.0	143.0		876	-11.0	0.0	3	dbSNP_134	143	1,8599	819.2+/-406.8	0,1,4299	no	coding-synonymous	RHO	NM_000539.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		292/349	129251555	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6010				protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding	g.chr3:129251555G>A	AB065668	CCDS3063.1	3q21-q24	2014-01-28	2008-04-16		ENSG00000163914	ENSG00000163914		"""GPCR / Class A : Opsin receptors"""	10012	protein-coding gene	gene with protein product	"""opsin 2, rod pigment"""	180380	"""retinitis pigmentosa 4, autosomal dominant"""	RP4		2016091	Standard	NM_000539		Approved	OPN2, CSNBAD1	uc003emt.3	P08100	OTTHUMG00000159542	ENST00000296271.3:c.876G>A	3.37:g.129251555G>A							p.A292A	NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	4	970	+		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)	292		A -> E (in CSNBAD1).			Q16414|Q2M249	Silent	SNP	ENST00000296271.3	37	c.876G>A	CCDS3063.1																																																																																				0.582	RHO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356101.1	NM_000539		26	62	0	0	0	1	0	26	62				
AMBRA1	55626	broad.mit.edu	37	11	46563768	46563768	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr11:46563768C>T	ENST00000458649.2	-	7	2217	c.1799G>A	c.(1798-1800)tGg>tAg	p.W600*	AMBRA1_ENST00000534300.1_Nonsense_Mutation_p.W600*|AMBRA1_ENST00000426438.1_Nonsense_Mutation_p.W600*|AMBRA1_ENST00000528950.1_Nonsense_Mutation_p.W600*|AMBRA1_ENST00000298834.3_Nonsense_Mutation_p.W600*|AMBRA1_ENST00000533727.1_Nonsense_Mutation_p.W510*|AMBRA1_ENST00000314845.3_Nonsense_Mutation_p.W510*			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	600	Ser-rich.				autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GGGGACCTGCCAAGAGGAACT	0.592																																						ENST00000458649.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39						c.(1798-1800)tGg>tAg		autophagy/beclin-1 regulator 1							51.0	43.0	46.0					11																	46563768		2201	4299	6500	SO:0001587	stop_gained	55626				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle		g.chr11:46563768C>T	AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	25990	protein-coding gene	gene with protein product	"""WD repeat domain 94"", ""DDB1 and CUL4 associated factor 3"""	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.1799G>A	11.37:g.46563768C>T	ENSP00000415327:p.Trp600*					AMBRA1_ENST00000426438.1_Nonsense_Mutation_p.W600*|AMBRA1_ENST00000298834.3_Nonsense_Mutation_p.W600*|AMBRA1_ENST00000534300.1_Nonsense_Mutation_p.W600*|AMBRA1_ENST00000533727.1_Nonsense_Mutation_p.W510*|AMBRA1_ENST00000314845.3_Nonsense_Mutation_p.W510*|AMBRA1_ENST00000528950.1_Nonsense_Mutation_p.W600*	p.W600*			Q9C0C7	AMRA1_HUMAN		GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)	7	2217	-			600			Ser-rich.		A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Nonsense_Mutation	SNP	ENST00000458649.2	37	c.1799G>A		.	.	.	.	.	.	.	.	.	.	C	38	7.247174	0.98161	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000314823;ENST00000458649;ENST00000528950	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.3978	0.87451	0.0:1.0:0.0:0.0	.	.	.	.	X	510;510;600;600;600;510;600;600	.	ENSP00000298834:W600X	W	-	2	0	AMBRA1	46520344	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.539000	0.45718	2.689000	0.91719	0.655000	0.94253	TGG		0.592	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	NM_017749		18	23	0	0	0	1	0	18	23				
ATE1	11101	broad.mit.edu	37	10	123673408	123673408	+	Splice_Site	SNP	C	C	A			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr10:123673408C>A	ENST00000224652.6	-	4	319	c.234G>T	c.(232-234)agG>agT	p.R78S	ATE1_ENST00000369043.3_Splice_Site_p.R78S|ATE1_ENST00000535655.1_5'UTR|ATE1_ENST00000369040.3_5'UTR|ATE1_ENST00000543447.1_Intron|ATE1_ENST00000540606.1_Splice_Site_p.R71S	NM_001001976.1	NP_001001976.1	O95260	ATE1_HUMAN	arginyltransferase 1	78					protein arginylation (GO:0016598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginyltransferase activity (GO:0004057)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				AAGGTCGGCACCTAGGAAAGC	0.363																																						ENST00000369043.3																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.e4-1		arginyltransferase 1							50.0	49.0	49.0					10																	123673408		2203	4300	6503	SO:0001630	splice_region_variant	11101				protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity	g.chr10:123673408C>A	AF079098	CCDS31299.1, CCDS31300.1, CCDS73211.1, CCDS73212.1, CCDS73213.1	10q26	2013-05-08			ENSG00000107669	ENSG00000107669	2.3.2.8		782	protein-coding gene	gene with protein product		607103				16002466, 16943202	Standard	XM_005269458		Approved		uc001lfq.3	O95260	OTTHUMG00000019178	ENST00000224652.6:c.234-1G>T	10.37:g.123673408C>A						ATE1_ENST00000543447.1_Intron|ATE1_ENST00000369040.3_5'UTR|ATE1_ENST00000535655.1_5'UTR|ATE1_ENST00000540606.1_Splice_Site_p.R71_splice|ATE1_ENST00000224652.6_Splice_Site_p.R78_splice	p.R78_splice	NM_007041.2	NP_008972.2	O95260	ATE1_HUMAN			4	320	-		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)	78					O95261|Q5SQQ3|Q8WW04	Splice_Site	SNP	ENST00000224652.6	37	c.233_splice	CCDS31300.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.56|19.56	3.850795|3.850795	0.71719|0.71719	.|.	.|.	ENSG00000107669|ENSG00000107669	ENST00000369043;ENST00000224652;ENST00000540606;ENST00000455628|ENST00000423243	.|.	.|.	.|.	5.62|5.62	4.7|4.7	0.59300|0.59300	Arginine-tRNA-protein transferase, N-terminal (1);|.	0.050230|.	0.85682|.	N|.	0.000000|.	T|T	0.81456|0.81456	0.4826|0.4826	H|H	0.94964|0.94964	3.605|3.605	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;0.999|.	D;D;D|.	0.97110|.	0.995;1.0;0.982|.	D|D	0.84274|0.84274	0.0490|0.0490	9|5	0.87932|.	D|.	0|.	.|.	8.4746|8.4746	0.33005|0.33005	0.0:0.8352:0.0:0.1648|0.0:0.8352:0.0:0.1648	.|.	71;78;78|.	F5GXE4;O95260;O95260-2|.	.;ATE1_HUMAN;.|.	S|L	78;78;71;71|75	.|.	ENSP00000224652:R78S|.	R|V	-|-	3|1	2|0	ATE1|ATE1	123663398|123663398	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.252000|1.252000	0.32874|0.32874	2.804000|2.804000	0.96469|0.96469	0.655000|0.655000	0.94253|0.94253	AGG|GTG		0.363	ATE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001001976	Missense_Mutation	3	35	1	0	0.115264	1	0.116865	3	35				
ATN1	1822	broad.mit.edu	37	12	7045025	7045025	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr12:7045025G>C	ENST00000356654.4	+	5	832	c.595G>C	c.(595-597)Gag>Cag	p.E199Q	ATN1_ENST00000396684.2_Missense_Mutation_p.E199Q	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	199					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						TGCTCCCATGGAGCCCCCCAC	0.617																																						ENST00000356654.4																			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(595-597)Gag>Cag		atrophin 1							76.0	76.0	76.0					12																	7045025		2203	4300	6503	SO:0001583	missense	1822				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	g.chr12:7045025G>C	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.595G>C	12.37:g.7045025G>C	ENSP00000349076:p.Glu199Gln					ATN1_ENST00000396684.2_Missense_Mutation_p.E199Q	p.E199Q	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN			5	832	+			199					Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	ENST00000356654.4	37	c.595G>C	CCDS31734.1	.	.	.	.	.	.	.	.	.	.	g	8.389	0.839379	0.16891	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325	T;T;T	0.70164	-0.46;-0.46;-0.46	3.56	3.56	0.40772	.	0.715988	0.10733	U	0.640373	T	0.51517	0.1679	N	0.19112	0.55	0.38731	D	0.953665	B;B	0.26081	0.001;0.141	B;B	0.18263	0.004;0.021	T	0.44967	-0.9293	10	0.18710	T	0.47	.	15.7204	0.77705	0.0:0.0:1.0:0.0	.	199;199	Q86V38;P54259	.;ATN1_HUMAN	Q	199	ENSP00000349076:E199Q;ENSP00000379915:E199Q;ENSP00000441744:E199Q	ENSP00000349076:E199Q	E	+	1	0	ATN1	6915286	0.993000	0.37304	1.000000	0.80357	0.874000	0.50279	1.982000	0.40638	1.996000	0.58369	0.454000	0.30748	GAG		0.617	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		8	160	0	0	0	1	0	8	160				
TSPEAR	54084	broad.mit.edu	37	21	45953633	45953633	+	Silent	SNP	T	T	C			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr21:45953633T>C	ENST00000323084.4	-	3	542	c.477A>G	c.(475-477)acA>acG	p.T159T	TSPEAR_ENST00000397916.1_Silent_p.T91T	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	159	Laminin G-like.				sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						CCAGGACCAGTGTGTGCCAGC	0.692																																						ENST00000323084.4																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						c.(475-477)acA>acG		thrombospondin-type laminin G domain and EAR repeats							28.0	28.0	28.0					21																	45953633		2195	4290	6485	SO:0001819	synonymous_variant	54084				cell adhesion	extracellular region	structural molecule activity	g.chr21:45953633T>C	AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"""chromosome 21 open reading frame 29"", ""deafness, autosomal recessive 98"""	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.477A>G	21.37:g.45953633T>C						TSPEAR_ENST00000397916.1_Silent_p.T91T	p.T159T	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN			3	542	-			159			TSP N-terminal.			Silent	SNP	ENST00000323084.4	37	c.477A>G	CCDS13712.1																																																																																				0.692	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991		20	49	0	0	0	1	0	20	49				
CD180	4064	broad.mit.edu	37	5	66479020	66479020	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr5:66479020C>T	ENST00000256447.4	-	3	1808	c.1651G>A	c.(1651-1653)Gct>Act	p.A551T	CTD-2306M10.1_ENST00000602471.1_lincRNA	NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	551					B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		CTGTTGGCAGCCAGATTGAGG	0.478																																						ENST00000256447.4																			0				cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34						c.(1651-1653)Gct>Act		CD180 molecule							85.0	61.0	69.0					5																	66479020		2203	4300	6503	SO:0001583	missense	4064				inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity	g.chr5:66479020C>T	D83597	CCDS3992.1	5q12	2008-02-05	2006-03-28	2005-06-07	ENSG00000134061	ENSG00000134061		"""CD molecules"""	6726	protein-coding gene	gene with protein product		602226	"""lymphocyte antigen 64 (mouse) homolog, radioprotective, 105kD"", ""CD180 antigen"""	LY64		9763566, 8975706	Standard	NM_005582		Approved	RP105, Ly78	uc003juy.2	Q99467	OTTHUMG00000131229	ENST00000256447.4:c.1651G>A	5.37:g.66479020C>T	ENSP00000256447:p.Ala551Thr						p.A551T	NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN		Lung(70;0.0046)	3	1808	-		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)	551					B2R7Z7|Q32MM5	Missense_Mutation	SNP	ENST00000256447.4	37	c.1651G>A	CCDS3992.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.722740	0.48728	.	.	ENSG00000134061	ENST00000256447	T	0.07800	3.16	4.95	4.95	0.65309	.	0.000000	0.64402	D	0.000005	T	0.26048	0.0635	L	0.60455	1.87	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.00473	-1.1718	10	0.32370	T	0.25	.	18.3875	0.90471	0.0:1.0:0.0:0.0	.	551	Q99467	CD180_HUMAN	T	551	ENSP00000256447:A551T	ENSP00000256447:A551T	A	-	1	0	CD180	66514776	1.000000	0.71417	0.762000	0.31397	0.110000	0.19582	5.344000	0.65981	2.567000	0.86603	0.563000	0.77884	GCT		0.478	CD180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253973.2	NM_005582		16	34	0	0	0	1	0	16	34				
ADAMTS2	9509	broad.mit.edu	37	5	178581152	178581152	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr5:178581152T>C	ENST00000251582.7	-	8	1381	c.1280A>G	c.(1279-1281)gAc>gGc	p.D427G	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.D427G	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	427	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CCGCACCTCGTCGCCACAGCG	0.706																																						ENST00000251582.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72						c.(1279-1281)gAc>gGc		ADAM metallopeptidase with thrombospondin type 1 motif, 2							14.0	14.0	14.0					5																	178581152		2191	4280	6471	SO:0001583	missense	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178581152T>C	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.1280A>G	5.37:g.178581152T>C	ENSP00000251582:p.Asp427Gly					ADAMTS2_ENST00000274609.5_Missense_Mutation_p.D427G	p.D427G	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	8	1381	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	427			Peptidase M12B.			Missense_Mutation	SNP	ENST00000251582.7	37	c.1280A>G	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	T	16.48	3.136364	0.56936	.	.	ENSG00000087116	ENST00000251582;ENST00000274609	T;T	0.62364	0.03;0.03	4.81	4.81	0.61882	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.56097	D	0.000032	T	0.57140	0.2033	L	0.48642	1.525	0.80722	D	1	B;B	0.27286	0.005;0.174	B;B	0.28991	0.009;0.097	T	0.59690	-0.7407	10	0.59425	D	0.04	.	13.848	0.63479	0.0:0.0:0.0:1.0	.	427;427	O95450-2;O95450	.;ATS2_HUMAN	G	427	ENSP00000251582:D427G;ENSP00000274609:D427G	ENSP00000251582:D427G	D	-	2	0	ADAMTS2	178513758	1.000000	0.71417	0.868000	0.34077	0.733000	0.41908	7.784000	0.85713	1.920000	0.55613	0.533000	0.62120	GAC		0.706	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		4	9	0	0	0	1	0	4	9				
FIGNL1	63979	broad.mit.edu	37	7	50513439	50513439	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr7:50513439G>C	ENST00000419119.1	-	2	3100	c.1547C>G	c.(1546-1548)tCt>tGt	p.S516C	FIGNL1_ENST00000433017.1_Missense_Mutation_p.S516C|FIGNL1_ENST00000395556.2_Missense_Mutation_p.S516C|FIGNL1_ENST00000356889.4_Missense_Mutation_p.S516C			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	516					ATP metabolic process (GO:0046034)|cellular response to ionizing radiation (GO:0071479)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|regulation of cell cycle (GO:0051726)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|hydrolase activity (GO:0016787)|magnesium ion binding (GO:0000287)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				CCTTCTAGAAGATTCATGCTC	0.408																																						ENST00000419119.1																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29						c.(1546-1548)tCt>tGt		fidgetin-like 1							88.0	89.0	89.0					7																	50513439		2203	4299	6502	SO:0001583	missense	63979				ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity	g.chr7:50513439G>C	AK023142	CCDS5510.1	7p12.2	2010-04-21			ENSG00000132436	ENSG00000132436		"""ATPases / AAA-type"""	13286	protein-coding gene	gene with protein product		615383					Standard	XM_005271783		Approved		uc003tpc.3	Q6PIW4	OTTHUMG00000022866	ENST00000419119.1:c.1547C>G	7.37:g.50513439G>C	ENSP00000410811:p.Ser516Cys					FIGNL1_ENST00000395556.2_Missense_Mutation_p.S516C|FIGNL1_ENST00000433017.1_Missense_Mutation_p.S516C|FIGNL1_ENST00000356889.4_Missense_Mutation_p.S516C	p.S516C			Q6PIW4	FIGL1_HUMAN			2	3100	-	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)	516					D3DVM6|Q86V18|Q8ND59|Q9H8P1|Q9H917	Missense_Mutation	SNP	ENST00000419119.1	37	c.1547C>G	CCDS5510.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.490820	0.84962	.	.	ENSG00000132436	ENST00000356889;ENST00000395556;ENST00000433017;ENST00000419119	D;D;D;D	0.93307	-3.2;-3.2;-3.2;-3.2	6.17	6.17	0.99709	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.95503	0.8539	L	0.45285	1.41	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.95286	0.8390	10	0.72032	D	0.01	-18.0735	19.8676	0.96824	0.0:0.0:1.0:0.0	.	516	Q6PIW4	FIGL1_HUMAN	C	516	ENSP00000349356:S516C;ENSP00000378924:S516C;ENSP00000399997:S516C;ENSP00000410811:S516C	ENSP00000349356:S516C	S	-	2	0	FIGNL1	50480933	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.827000	0.99397	2.941000	0.99782	0.655000	0.94253	TCT		0.408	FIGNL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342579.1	NM_001042762		38	130	0	0	0	1	0	38	130				
NWD1	284434	broad.mit.edu	37	19	16860397	16860397	+	Missense_Mutation	SNP	G	G	A	rs143471757	byFrequency	TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr19:16860397G>A	ENST00000552788.1	+	4	944	c.944G>A	c.(943-945)cGc>cAc	p.R315H	NWD1_ENST00000379808.3_Missense_Mutation_p.R315H|NWD1_ENST00000549814.1_Missense_Mutation_p.R315H|NWD1_ENST00000524140.2_Missense_Mutation_p.R315H|NWD1_ENST00000523826.1_Missense_Mutation_p.R109H|NWD1_ENST00000339803.6_Missense_Mutation_p.R180H			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	315							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TTCTGCGGACGCCAGGAACTC	0.622													G|||	5	0.000998403	0.0038	0.0	5008	,	,		18790	0.0		0.0	False		,,,				2504	0.0					ENST00000524140.2																			0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(943-945)cGc>cAc		NACHT and WD repeat domain containing 1		G	HIS/ARG	6,4400	11.4+/-27.6	0,6,2197	38.0	41.0	40.0		944	2.2	1.0	19	dbSNP_134	40	0,8600		0,0,4300	yes	missense	NWD1	NM_001007525.3	29	0,6,6497	AA,AG,GG		0.0,0.1362,0.0461	benign	315/1433	16860397	6,13000	2203	4300	6503	SO:0001583	missense	284434						ATP binding	g.chr19:16860397G>A	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.944G>A	19.37:g.16860397G>A	ENSP00000447224:p.Arg315His					NWD1_ENST00000549814.1_Missense_Mutation_p.R315H|NWD1_ENST00000523826.1_Missense_Mutation_p.R109H|NWD1_ENST00000552788.1_Missense_Mutation_p.R315H|NWD1_ENST00000379808.3_Missense_Mutation_p.R315H|NWD1_ENST00000339803.6_Missense_Mutation_p.R180H	p.R315H	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN			6	1362	+			315					C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37	c.944G>A		.	.	.	.	.	.	.	.	.	.	g	8.995	0.978739	0.18812	0.001362	0.0	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	D;D;D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01;-2.01;-2.01	4.36	2.15	0.27550	.	0.115679	0.49305	N	0.000146	T	0.70168	0.3193	N	0.19112	0.55	0.31387	N	0.678316	B;B;B	0.30937	0.301;0.061;0.036	B;B;B	0.20577	0.03;0.012;0.005	T	0.67213	-0.5727	10	0.45353	T	0.12	-19.118	8.7444	0.34578	0.1966:0.0:0.8034:0.0	.	315;315;180	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	H	180;315;315;315;109;315;180	ENSP00000428579:R315H;ENSP00000447548:R315H;ENSP00000369136:R315H;ENSP00000428955:R109H;ENSP00000447224:R315H;ENSP00000340159:R180H	ENSP00000340159:R180H	R	+	2	0	NWD1	16721397	0.998000	0.40836	0.962000	0.40283	0.041000	0.13682	2.185000	0.42584	0.382000	0.24878	0.643000	0.83706	CGC		0.622	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		31	52	0	0	0	1	0	31	52				
BCL6	604	broad.mit.edu	37	3	187447177	187447180	+	Frame_Shift_Del	DEL	CAGT	CAGT	-			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr3:187447177_187447180delCAGT	ENST00000406870.2	-	5	1379_1382	c.1013_1016delACTG	c.(1012-1017)gactgcfs	p.DC338fs	BCL6_ENST00000450123.2_Frame_Shift_Del_p.DC338fs|RP11-211G3.3_ENST00000437407.1_Intron|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000232014.4_Frame_Shift_Del_p.DC338fs	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	338					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		GTTGGGCTGGCAGTCAGATTTCTG	0.603			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""																																	ENST00000406870.2				Dom	yes		3	3q27	604	"""T, Mis"""	B-cell CLL/lymphoma 6			L	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""		"""NHL, CLL"""		0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40						c.(1012-1017)gcfs		B-cell CLL/lymphoma 6																																				SO:0001589	frameshift_variant	604				negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:187447177_187447180delCAGT		CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1001	protein-coding gene	gene with protein product		109565	"""zinc finger protein 51"""	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.1013_1016delACTG	3.37:g.187447177_187447180delCAGT	ENSP00000384371:p.Asp338fs					RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000232014.4_Frame_Shift_Del_p.DC338fs|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000450123.2_Frame_Shift_Del_p.DC338fs	p.DC338fs	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)	5	1379_1382	-	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		338					A7E241|B8PSA7|D3DNV5	Frame_Shift_Del	DEL	ENST00000406870.2	37	c.1013_1016delACTG	CCDS3289.1																																																																																				0.603	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	NM_138931		20	352						20	352	---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149527827	149527827	+	RNA	DEL	C	C	-	rs575266010	byFrequency	TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr7:149527827delC	ENST00000378016.2	+	0	15142							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCCTCCTGTGCCGTCCCCCAC	0.622																																						ENST00000378016.2																			0													SCO-spondin																																						23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149527827delC	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149527827delC										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	15142	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	DEL	ENST00000378016.2	37																																																																																						0.622	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				2	4						2	4	---	---	---	---
RP11-478C19.2	0	broad.mit.edu	37	12	110868214	110868215	+	RNA	INS	-	-	GT	rs3054092|rs372456864|rs113592903		TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr12:110868214_110868215insGT	ENST00000550231.1	-	0	97																											TCAgtgtgtgcgtgtgtgtgtg	0.49																																						ENST00000550231.1																			0																																																			0							g.chr12:110868214_110868215insGT																													12.37:g.110868223_110868224dupGT														0	97	-									RNA	INS	ENST00000550231.1	37																																																																																						0.490	RP11-478C19.2-001	KNOWN	basic|readthrough_transcript	retained_intron	processed_transcript	OTTHUMT00000404601.1			3	4						3	4	---	---	---	---
