#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-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_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_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	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		11	5	0	0	0	1	0	11	5				
IL18R1	8809	broad.mit.edu	37	2	102988461	102988461	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr2:102988461C>G	ENST00000409599.1	+	5	707	c.351C>G	c.(349-351)caC>caG	p.H117Q	IL18R1_ENST00000233957.1_Missense_Mutation_p.H117Q|IL18R1_ENST00000334376.3_Missense_Mutation_p.H117Q			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	117	Ig-like C2-type 1.				immune response (GO:0006955)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|signal transduction (GO:0007165)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-18 receptor activity (GO:0042008)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GAAATAAACACAGCTGTTTCA	0.284																																						ENST00000409599.1																			0				breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(349-351)caC>caG		interleukin 18 receptor 1							35.0	36.0	36.0					2																	102988461		2202	4290	6492	SO:0001583	missense	8809				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity	g.chr2:102988461C>G	U43672	CCDS2060.1	2q12	2013-01-29			ENSG00000115604	ENSG00000115604		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5988	protein-coding gene	gene with protein product		604494				8626725, 10191101	Standard	NM_003855		Approved	IL1RRP, IL-1Rrp, CD218a	uc010fiy.3	Q13478	OTTHUMG00000130780	ENST00000409599.1:c.351C>G	2.37:g.102988461C>G	ENSP00000387211:p.His117Gln					IL18R1_ENST00000334376.3_Missense_Mutation_p.H117Q|IL18R1_ENST00000233957.1_Missense_Mutation_p.H117Q	p.H117Q			Q13478	IL18R_HUMAN			5	707	+			117			Ig-like C2-type 1.		B2R9Y5|Q52LC9	Missense_Mutation	SNP	ENST00000409599.1	37	c.351C>G	CCDS2060.1	.	.	.	.	.	.	.	.	.	.	C	8.749	0.920851	0.17982	.	.	ENSG00000115604	ENST00000410040;ENST00000409599;ENST00000233957;ENST00000334376	T;T;T	0.01455	4.87;4.87;4.87	5.15	2.29	0.28610	.	1.035690	0.07572	N	0.918656	T	0.02342	0.0072	L	0.42245	1.32	0.09310	N	1	B;B;B	0.29432	0.011;0.244;0.011	B;B;B	0.24974	0.005;0.057;0.005	T	0.50491	-0.8822	10	0.12103	T	0.63	.	13.3634	0.60669	0.0:0.5346:0.4654:0.0	.	117;117;117	B7ZKV7;Q86YL8;Q13478	.;.;IL18R_HUMAN	Q	117	ENSP00000386663:H117Q;ENSP00000387211:H117Q;ENSP00000233957:H117Q	ENSP00000233957:H117Q	H	+	3	2	IL18R1	102354893	0.002000	0.14202	0.201000	0.23476	0.919000	0.55068	0.418000	0.21230	0.265000	0.21872	-0.218000	0.12543	CAC		0.284	IL18R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253294.2	NM_003855		6	68	0	0	0	1	0	6	68				
LOC645752	645752	broad.mit.edu	37	15	78211343	78211343	+	lincRNA	SNP	G	G	A	rs71211222		TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr15:78211343G>A	ENST00000565869.1	+	0	111				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							TGCTCCTGTAGCATCTTCTGC	0.582																																						ENST00000565869.1																			0																																																			0							g.chr15:78211343G>A																													15.37:g.78211343G>A						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.582	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			35	65	0	0	0	1	0	35	65				
ATRX	546	broad.mit.edu	37	X	76889115	76889115	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chrX:76889115A>G	ENST00000373344.5	-	18	5109	c.4895T>C	c.(4894-4896)tTg>tCg	p.L1632S	ATRX_ENST00000395603.3_Missense_Mutation_p.L1594S|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1632	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.			L -> F (in Ref. 7; AAC50069). {ECO:0000305}.	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						CATCCAATTCAAAGCAGTATT	0.333			"""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.(4894-4896)tTg>tCg		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						48.0	45.0	46.0					X																	76889115		2203	4296	6499	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:76889115A>G	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.4895T>C	X.37:g.76889115A>G	ENSP00000362441:p.Leu1632Ser					ATRX_ENST00000395603.3_Missense_Mutation_p.L1594S|ATRX_ENST00000480283.1_5'UTR	p.L1632S	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			18	5109	-			1632	L -> F (in Ref. 7; AAC50069).		Helicase ATP-binding.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.4895T>C	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	A	17.58	3.425721	0.62733	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.92545	-3.06;-3.06	5.76	5.76	0.90799	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.64402	D	0.000017	D	0.92067	0.7486	N	0.13198	0.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.93512	0.6854	10	0.59425	D	0.04	-3.8418	14.9948	0.71421	1.0:0.0:0.0:0.0	.	1594;1632	P46100-4;P46100	.;ATRX_HUMAN	S	1632;1594	ENSP00000362441:L1632S;ENSP00000378967:L1594S	ENSP00000362441:L1632S	L	-	2	0	ATRX	76775771	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.932000	0.92897	1.924000	0.55735	0.481000	0.45027	TTG		0.333	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		17	30	0	0	0	1	0	17	30				
KCNK2	3776	broad.mit.edu	37	1	215259857	215259857	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr1:215259857A>G	ENST00000444842.2	+	2	343	c.193A>G	c.(193-195)Ata>Gta	p.I65V	KCNK2_ENST00000391894.2_Missense_Mutation_p.I50V|KCNK2_ENST00000391895.2_Missense_Mutation_p.I61V	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	65					G-protein coupled receptor signaling pathway (GO:0007186)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|potassium ion leak channel activity (GO:0022841)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)|Dronedarone(DB04855)	GGTCTCCACGATATTCCTGGT	0.502																																						ENST00000444842.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30						c.(193-195)Ata>Gta		potassium channel, subfamily K, member 2	Dofetilide(DB00204)						97.0	82.0	87.0					1																	215259857		2203	4300	6503	SO:0001583	missense	3776						outward rectifier potassium channel activity	g.chr1:215259857A>G	AF004711	CCDS31024.1, CCDS41466.1, CCDS41467.1	1q41	2012-03-07			ENSG00000082482	ENSG00000082482		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6277	protein-coding gene	gene with protein product		603219				9721223, 16382106	Standard	NM_001017424		Approved	K2p2.1, TREK-1	uc001hkr.4	O95069	OTTHUMG00000037017	ENST00000444842.2:c.193A>G	1.37:g.215259857A>G	ENSP00000394033:p.Ile65Val					KCNK2_ENST00000391895.2_Missense_Mutation_p.I61V|KCNK2_ENST00000391894.2_Missense_Mutation_p.I50V	p.I65V	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	2	343	+			65					A1Z1V3|A8K618|B2RCS4|B7ZL56|D3DTA5|Q5DP47|Q5DP48|Q9NRT2|Q9UNE3	Missense_Mutation	SNP	ENST00000444842.2	37	c.193A>G	CCDS41467.1	.	.	.	.	.	.	.	.	.	.	A	12.16	1.854366	0.32791	.	.	ENSG00000082482	ENST00000366948;ENST00000391895;ENST00000478774;ENST00000391894;ENST00000444842;ENST00000457122	T;D;T;T;T	0.97352	1.89;-4.35;1.89;1.89;1.89	5.77	5.77	0.91146	.	0.045134	0.85682	D	0.000000	D	0.92482	0.7613	N	0.20685	0.6	0.47441	D	0.999424	B;B;B	0.13594	0.002;0.002;0.008	B;B;B	0.14578	0.008;0.008;0.011	D	0.88626	0.3166	10	0.33940	T	0.23	.	10.4409	0.44464	0.9275:0.0:0.0725:0.0	.	50;65;61	O95069-2;O95069;O95069-3	.;KCNK2_HUMAN;.	V	61;61;9;50;65;9	ENSP00000375765:I61V;ENSP00000420569:I9V;ENSP00000375764:I50V;ENSP00000394033:I65V;ENSP00000413460:I9V	ENSP00000355915:I61V	I	+	1	0	KCNK2	213326480	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.038000	0.64177	2.203000	0.70933	0.455000	0.32223	ATA		0.502	KCNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089856.2	NM_014217		3	38	0	0	0	1	0	3	38				
RYR2	6262	broad.mit.edu	37	1	237660042	237660042	+	Silent	SNP	T	T	C			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr1:237660042T>C	ENST00000366574.2	+	20	2510	c.2193T>C	c.(2191-2193)caT>caC	p.H731H	RYR2_ENST00000542537.1_Silent_p.H715H|RYR2_ENST00000360064.6_Silent_p.H729H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	731	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATGGCCTTCATCTCTGGTCAG	0.473																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(2191-2193)caT>caC		ryanodine receptor 2 (cardiac)							153.0	159.0	157.0					1																	237660042		1969	4160	6129	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237660042T>C	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.2193T>C	1.37:g.237660042T>C						RYR2_ENST00000360064.6_Silent_p.H729H|RYR2_ENST00000542537.1_Silent_p.H715H	p.H731H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		20	2510	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	731			B30.2/SPRY 1.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.2193T>C	CCDS55691.1																																																																																				0.473	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		4	141	0	0	0	1	0	4	141				
ARHGAP5	394	broad.mit.edu	37	14	32563045	32563045	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr14:32563045A>C	ENST00000345122.3	+	2	3485	c.3170A>C	c.(3169-3171)aAc>aCc	p.N1057T	ARHGAP5_ENST00000432921.1_Missense_Mutation_p.N1057T|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.N1057T|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.N1057T	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	1057					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		CTCGATCCAAACCTTTTAAAA	0.408																																					NSCLC(9;77 350 3443 29227 41353)	ENST00000345122.3																			0				NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55						c.(3169-3171)aAc>aCc		Rho GTPase activating protein 5							63.0	64.0	64.0					14																	32563045		2202	4299	6501	SO:0001583	missense	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32563045A>C	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.3170A>C	14.37:g.32563045A>C	ENSP00000371897:p.Asn1057Thr					ARHGAP5_ENST00000432921.1_Missense_Mutation_p.N1057T|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.N1057T|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.N1057T|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000396582.2_Intron	p.N1057T	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	2	3485	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		1057					A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	ENST00000345122.3	37	c.3170A>C	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	A	12.73	2.026544	0.35797	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.08896	3.04;3.04;3.04;3.04	5.58	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.10121	0.0248	L	0.54323	1.7	0.58432	D	0.999999	B;B	0.32753	0.383;0.264	B;B	0.30943	0.122;0.057	T	0.05666	-1.0871	10	0.46703	T	0.11	.	12.2983	0.54860	0.873:0.0:0.0:0.127	.	1057;1057	Q13017-2;Q13017	.;RHG05_HUMAN	T	1057	ENSP00000452222:N1057T;ENSP00000441692:N1057T;ENSP00000371897:N1057T;ENSP00000393307:N1057T	ENSP00000371897:N1057T	N	+	2	0	ARHGAP5	31632796	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.327000	0.79147	1.033000	0.39918	0.482000	0.46254	AAC		0.408	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		11	66	0	0	0	1	0	11	66				
BHLHE40	8553	broad.mit.edu	37	3	5024544	5024544	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr3:5024544G>A	ENST00000256495.3	+	5	1009	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K	BHLHE40-AS1_ENST00000434530.1_RNA|BHLHE40-AS1_ENST00000420832.1_RNA|BHLHE40-AS1_ENST00000441386.2_RNA	NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	136	Essential for its interaction with ARNTL/BMAL1, E-box binding and repressor activity against the CLOCK-ARNTL/BMAL1 heterodimer.				circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|MRF binding (GO:0043426)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						GAGAAATGTCGAAACAGGTCA	0.507																																						ENST00000256495.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						c.(406-408)Gaa>Aaa		basic helix-loop-helix family, member e40							155.0	163.0	160.0					3																	5024544		2203	4300	6503	SO:0001583	missense	8553					Golgi apparatus|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr3:5024544G>A	AB004066	CCDS2565.1	3p26	2009-01-12	2009-01-12	2009-01-12	ENSG00000134107	ENSG00000134107		"""Basic helix-loop-helix proteins"""	1046	protein-coding gene	gene with protein product	"""differentially expressed in chondrocytes 1"", "" differentiated embryo chondrocyte expressed gene 1"""	604256	"""basic helix-loop-helix domain containing, class B, 2"""	STRA13, BHLHB2		9240428, 10449910, 18557763	Standard	NM_003670		Approved	DEC1, bHLHe40	uc003bqf.3	O14503	OTTHUMG00000119035	ENST00000256495.3:c.406G>A	3.37:g.5024544G>A	ENSP00000256495:p.Glu136Lys						p.E136K	NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN			5	1009	+			136					Q96TD3	Missense_Mutation	SNP	ENST00000256495.3	37	c.406G>A	CCDS2565.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.173573	0.38413	.	.	ENSG00000134107	ENST00000256495	T	0.63580	-0.05	5.86	4.99	0.66335	Helix-loop-helix DNA-binding (1);	0.416266	0.27836	N	0.017644	T	0.49864	0.1582	L	0.42245	1.32	0.25915	N	0.983182	B	0.12630	0.006	B	0.09377	0.004	T	0.33343	-0.9872	10	0.11794	T	0.64	-20.2149	11.0444	0.47850	0.1413:0.0:0.8587:0.0	.	136	O14503	BHE40_HUMAN	K	136	ENSP00000256495:E136K	ENSP00000256495:E136K	E	+	1	0	BHLHE40	4999544	1.000000	0.71417	0.140000	0.22221	0.445000	0.32107	5.110000	0.64622	1.491000	0.48482	0.655000	0.94253	GAA		0.507	BHLHE40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239244.2	NM_003670		21	160	0	0	0	1	0	21	160				
FAM127C	441518	broad.mit.edu	37	X	134156373	134156373	+	Silent	SNP	C	C	T			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chrX:134156373C>T	ENST00000391440.1	-	1	186	c.117G>A	c.(115-117)cgG>cgA	p.R39R		NM_001078173.1	NP_001071641.1	Q17RB0	F127C_HUMAN	family with sequence similarity 127, member C	39										breast(1)|endometrium(2)|large_intestine(1)|lung(2)	6	Acute lymphoblastic leukemia(192;0.000127)					ACTCCGGGAGCCGGTCGGTAT	0.632																																						ENST00000391440.1																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)	6						c.(115-117)cgG>cgA		family with sequence similarity 127, member C							79.0	88.0	85.0					X																	134156373		2112	4211	6323	SO:0001819	synonymous_variant	441518							g.chrX:134156373C>T	BC048268	CCDS43996.1	Xq26.3	2014-05-16			ENSG00000212747	ENSG00000212747			33156	protein-coding gene	gene with protein product						9403077, 15716091	Standard	NM_001078173		Approved	MAR8B, CXX1c	uc004eyc.1	Q17RB0	OTTHUMG00000022464	ENST00000391440.1:c.117G>A	X.37:g.134156373C>T							p.R39R	NM_001078173.1	NP_001071641.1	Q17RB0	F127C_HUMAN			1	186	-	Acute lymphoblastic leukemia(192;0.000127)		39						Silent	SNP	ENST00000391440.1	37	c.117G>A	CCDS43996.1																																																																																				0.632	FAM127C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058389.2	NM_001078173		27	30	0	0	0	1	0	27	30				
ZCCHC11	23318	broad.mit.edu	37	1	52891127	52891127	+	Silent	SNP	A	A	G			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr1:52891127A>G	ENST00000371544.3	-	29	5023	c.4761T>C	c.(4759-4761)cgT>cgC	p.R1587R	ZCCHC11_ENST00000257177.4_Silent_p.R1588R	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1587	Pro-rich.				cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						GGAAATGGGGACGCGGTGCAT	0.463																																						ENST00000371544.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(4759-4761)cgT>cgC		zinc finger, CCHC domain containing 11							81.0	81.0	81.0					1																	52891127		2203	4300	6503	SO:0001819	synonymous_variant	23318				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	g.chr1:52891127A>G	D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.4761T>C	1.37:g.52891127A>G						ZCCHC11_ENST00000257177.4_Silent_p.R1588R	p.R1587R	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN			29	5023	-			1587			Pro-rich.		A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Silent	SNP	ENST00000371544.3	37	c.4761T>C	CCDS30716.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.19|10.19	1.282031|1.282031	0.23392|0.23392	.|.	.|.	ENSG00000134744|ENSG00000134744	ENST00000528457|ENST00000494469;ENST00000471623	.|.	.|.	.|.	4.53|4.53	-2.09|-2.09	0.07232|0.07232	.|.	.|.	.|.	.|.	.|.	T|T	0.43389|0.43389	0.1245|0.1245	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.32241|0.32241	-0.9914|-0.9914	4|4	.|.	.|.	.|.	.|.	4.4659|4.4659	0.11689|0.11689	0.4224:0.0:0.3251:0.2524|0.4224:0.0:0.3251:0.2524	.|.	.|.	.|.	.|.	P|A	90|94;41	.|.	.|.	S|V	-|-	1|2	0|0	ZCCHC11|ZCCHC11	52663715|52663715	0.936000|0.936000	0.31750|0.31750	0.996000|0.996000	0.52242|0.52242	0.966000|0.966000	0.64601|0.64601	0.207000|0.207000	0.17395|0.17395	-0.269000|-0.269000	0.09298|0.09298	0.254000|0.254000	0.18369|0.18369	TCC|GTC		0.463	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288		6	39	0	0	0	1	0	6	39				
STAMBP	10617	broad.mit.edu	37	2	74087264	74087264	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr2:74087264C>T	ENST00000394070.2	+	9	1707	c.1204C>T	c.(1204-1206)Cca>Tca	p.P402S	STAMBP_ENST00000339566.3_Missense_Mutation_p.P402S|STAMBP_ENST00000409707.1_Missense_Mutation_p.P402S|STAMBP_ENST00000486458.1_3'UTR|STAMBP_ENST00000394073.1_Missense_Mutation_p.P402S	NM_213622.2	NP_998787.1	O95630	STABP_HUMAN	STAM binding protein	402					JAK-STAT cascade (GO:0007259)|mitotic cytokinesis (GO:0000281)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of cell proliferation (GO:0008284)|protein deubiquitination (GO:0016579)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	18						CAGCAAGGATCCACCTCTGTT	0.413																																						ENST00000394070.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	18						c.(1204-1206)Cca>Tca		STAM binding protein							93.0	80.0	84.0					2																	74087264		2203	4300	6503	SO:0001583	missense	10617				JAK-STAT cascade|positive regulation of cell proliferation	early endosome|membrane|nucleus	metal ion binding|metallopeptidase activity|protein binding	g.chr2:74087264C>T	BC007682	CCDS1929.1	2p24.3-p24.1	2008-02-05			ENSG00000124356	ENSG00000124356			16950	protein-coding gene	gene with protein product		606247				10383417	Standard	NM_006463		Approved	AMSH	uc002sjs.3	O95630	OTTHUMG00000129817	ENST00000394070.2:c.1204C>T	2.37:g.74087264C>T	ENSP00000377633:p.Pro402Ser					STAMBP_ENST00000486458.1_3'UTR|STAMBP_ENST00000394073.1_Missense_Mutation_p.P402S|STAMBP_ENST00000339566.3_Missense_Mutation_p.P402S|STAMBP_ENST00000409707.1_Missense_Mutation_p.P402S	p.P402S	NM_213622.2	NP_998787.1	O95630	STABP_HUMAN			9	1707	+			402					B5M0B6|D6W5H7|Q3MJE7	Missense_Mutation	SNP	ENST00000394070.2	37	c.1204C>T	CCDS1929.1	.	.	.	.	.	.	.	.	.	.	C	34	5.344518	0.95807	.	.	ENSG00000124356	ENST00000339566;ENST00000409707;ENST00000394073;ENST00000394070	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.37183	0.0994	L	0.45352	1.415	0.80722	D	1	P	0.52061	0.95	P	0.53954	0.738	T	0.01087	-1.1456	10	0.31617	T	0.26	-20.2897	18.5275	0.90978	0.0:1.0:0.0:0.0	.	402	O95630	STABP_HUMAN	S	402	ENSP00000344742:P402S;ENSP00000386548:P402S;ENSP00000377636:P402S;ENSP00000377633:P402S	ENSP00000344742:P402S	P	+	1	0	STAMBP	73940772	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.788000	0.69020	2.665000	0.90641	0.655000	0.94253	CCA		0.413	STAMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252048.2	NM_006463		4	55	0	0	0	1	0	4	55				
ACSM1	116285	broad.mit.edu	37	16	20638625	20638625	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr16:20638625T>C	ENST00000307493.4	-	10	1380	c.1313A>G	c.(1312-1314)aAg>aGg	p.K438R	ACSM1_ENST00000520010.1_Missense_Mutation_p.K438R|ACSM1_ENST00000219151.4_Missense_Mutation_p.K89R	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	438					benzoate metabolic process (GO:0018874)|butyrate metabolic process (GO:0019605)|cholesterol homeostasis (GO:0042632)|energy derivation by oxidation of organic compounds (GO:0015980)|fatty acid biosynthetic process (GO:0006633)|fatty acid oxidation (GO:0019395)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	acyl-CoA ligase activity (GO:0003996)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TTTAGCTGTCTTCTCTGGGTC	0.473																																						ENST00000219151.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						c.(265-267)aAg>aGg		acyl-CoA synthetase medium-chain family member 1							312.0	312.0	312.0					16																	20638625		2201	4300	6501	SO:0001583	missense	116285				benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20638625T>C	AB059429	CCDS10587.1	16p12.3	2008-02-05	2005-09-08	2005-09-08	ENSG00000166743	ENSG00000166743	6.2.1.2	"""Acyl-CoA synthetase family"""	18049	protein-coding gene	gene with protein product		614357	"""butyryl Coenzyme A synthetase 1"""	BUCS1		11470804, 12654705	Standard	NM_052956		Approved	MACS1	uc002dhm.1	Q08AH1	OTTHUMG00000131550	ENST00000307493.4:c.1313A>G	16.37:g.20638625T>C	ENSP00000301956:p.Lys438Arg					ACSM1_ENST00000307493.4_Missense_Mutation_p.K438R|ACSM1_ENST00000520010.1_Missense_Mutation_p.K438R	p.K89R			Q08AH1	ACSM1_HUMAN			11	1476	-			438					Q08AH2|Q96A20	Missense_Mutation	SNP	ENST00000307493.4	37	c.266A>G	CCDS10587.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	8.894|8.894	0.954722|0.954722	0.18431|0.18431	.|.	.|.	ENSG00000166743|ENSG00000166743	ENST00000307493;ENST00000219151;ENST00000520010|ENST00000524149	T;T;T|.	0.41758|.	0.99;0.99;0.99|.	4.22|4.22	3.07|3.07	0.35406|0.35406	AMP-dependent synthetase/ligase (1);|.	0.225049|.	0.30800|.	N|.	0.008860|.	T|T	0.25827|0.25827	0.0629|0.0629	N|N	0.25485|0.25485	0.75|0.75	0.21553|0.21553	N|N	0.999643|0.999643	P|.	0.37176|.	0.586|.	B|.	0.37731|.	0.257|.	T|T	0.19128|0.19128	-1.0315|-1.0315	10|5	0.21540|.	T|.	0.41|.	.|.	7.0468|7.0468	0.25050|0.25050	0.0:0.1901:0.0:0.8099|0.0:0.1901:0.0:0.8099	.|.	438|.	Q08AH1|.	ACSM1_HUMAN|.	R|G	438;89;438|110	ENSP00000301956:K438R;ENSP00000219151:K89R;ENSP00000428047:K438R|.	ENSP00000219151:K89R|.	K|R	-|-	2|1	0|2	ACSM1|ACSM1	20546126|20546126	0.995000|0.995000	0.38212|0.38212	0.752000|0.752000	0.31206|0.31206	0.136000|0.136000	0.21042|0.21042	0.883000|0.883000	0.28200|0.28200	0.716000|0.716000	0.32124|0.32124	0.533000|0.533000	0.62120|0.62120	AAG|AGA		0.473	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254412.1	NM_052956		41	306	0	0	0	1	0	41	306				
ATF6B	1388	broad.mit.edu	37	6	32087599	32087599	+	Splice_Site	SNP	A	A	G			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr6:32087599A>G	ENST00000375203.3	-	9	999		c.e9+1		ATF6B_ENST00000375201.4_Splice_Site	NM_001136153.1|NM_004381.4	NP_001129625.1|NP_004372.3	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta						response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						CCCAACACTTACATCCACTTC	0.582																																						ENST00000375201.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						c.e9+1		activating transcription factor 6 beta							97.0	85.0	89.0					6																	32087599		2203	4300	6503	SO:0001630	splice_region_variant	1388				response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:32087599A>G		CCDS47408.1, CCDS4737.1	6p21.3	2013-01-10	2008-10-21	2008-10-21	ENSG00000213676	ENSG00000213676		"""basic leucine zipper proteins"""	2349	protein-coding gene	gene with protein product		600984	"""cAMP responsive element binding protein-like 1"""	CREBL1		11256944, 14973138	Standard	NM_004381		Approved	G13	uc003nzn.3	Q99941	OTTHUMG00000031296	ENST00000375203.3:c.966+1T>C	6.37:g.32087599A>G						ATF6B_ENST00000375203.3_Splice_Site				Q99941	ATF6B_HUMAN			9	1003	-								B0UYX6|Q13269|Q14343|Q14345|Q5SSW7|Q99635|Q99637|Q9H3V9|Q9H3W1|Q9NPL0	Splice_Site	SNP	ENST00000375203.3	37		CCDS4737.1	.	.	.	.	.	.	.	.	.	.	A	12.99	2.103342	0.37145	.	.	ENSG00000213676	ENST00000375203;ENST00000375201	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7184	0.57127	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATF6B	32195577	1.000000	0.71417	0.800000	0.32199	0.381000	0.30169	4.936000	0.63506	1.892000	0.54788	0.456000	0.33151	.		0.582	ATF6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076638.2		Intron	8	36	0	0	0	1	0	8	36				
BRCA2	675	broad.mit.edu	37	13	32913927	32913927	+	Missense_Mutation	SNP	A	A	G	rs397507351|rs397507784		TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr13:32913927A>G	ENST00000380152.3	+	11	5668	c.5435A>G	c.(5434-5436)gAa>gGa	p.E1812G	BRCA2_ENST00000544455.1_Missense_Mutation_p.E1812G			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1812					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TGCGTTGAGGAACTTGTGACT	0.343			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 2			"""L, E"""		"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""	"""breast, ovarian, pancreatic"""		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(5434-5436)gAa>gGa	Homologous recombination	breast cancer 2, early onset							72.0	78.0	76.0					13																	32913927		2203	4300	6503	SO:0001583	missense	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32913927A>G	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.5435A>G	13.37:g.32913927A>G	ENSP00000369497:p.Glu1812Gly	TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Missense_Mutation_p.E1812G	p.E1812G	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	5662	+		Lung SC(185;0.0262)	1812					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.5435A>G	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	A	5.856	0.342053	0.11069	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00717	5.79;5.79	5.24	1.14	0.20703	.	0.744597	0.13433	N	0.388257	T	0.00608	0.0020	N	0.22421	0.69	0.09310	N	1	B	0.23185	0.081	B	0.16289	0.015	T	0.48043	-0.9069	10	0.46703	T	0.11	.	3.5538	0.07857	0.6556:0.1383:0.0734:0.1327	.	1812	P51587	BRCA2_HUMAN	G	1812	ENSP00000369497:E1812G;ENSP00000439902:E1812G	ENSP00000369497:E1812G	E	+	2	0	BRCA2	31811927	0.000000	0.05858	0.009000	0.14445	0.101000	0.19017	0.144000	0.16135	0.490000	0.27771	-0.313000	0.08912	GAA		0.343	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		13	86	0	0	0	1	0	13	86				
ZNF790	388536	broad.mit.edu	37	19	37314666	37314666	+	Silent	SNP	T	T	G			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr19:37314666T>G	ENST00000356725.4	-	3	156	c.36A>C	c.(34-36)gtA>gtC	p.V12V	CTD-2162K18.5_ENST00000587278.1_RNA|CTD-2162K18.5_ENST00000588906.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	12	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GAGAGAAATCTACAGCCACAT	0.393																																						ENST00000356725.4																			0				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32						c.(34-36)gtA>gtC		zinc finger protein 790							76.0	74.0	75.0					19																	37314666		2203	4300	6503	SO:0001819	synonymous_variant	388536				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37314666T>G	BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"""Zinc fingers, C2H2-type"", ""-"""	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.36A>C	19.37:g.37314666T>G						CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	p.V12V	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		3	156	-	Esophageal squamous(110;0.183)		12			KRAB.			Silent	SNP	ENST00000356725.4	37	c.36A>C	CCDS12496.1																																																																																				0.393	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385341.2	NM_206894		5	65	0	0	0	1	0	5	65				
ITIH5	80760	broad.mit.edu	37	10	7614301	7614301	+	Missense_Mutation	SNP	C	C	T	rs141124086		TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr10:7614301C>T	ENST00000397145.2	-	12	2198	c.2093G>A	c.(2092-2094)aGc>aAc	p.S698N	ITIH5_ENST00000298441.6_Intron|ITIH5_ENST00000256861.6_Intron|ITIH5_ENST00000446830.2_Intron|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Intron	NM_001001851.2	NP_001001851.1	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	0					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TTCCAGGATGCTGGCAAAAGG	0.388																																						ENST00000397145.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						c.(2092-2094)aGc>aAc		inter-alpha-trypsin inhibitor heavy chain family, member 5							85.0	82.0	83.0					10																	7614301		1828	4084	5912	SO:0001583	missense	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7614301C>T			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000397145.2:c.2093G>A	10.37:g.7614301C>T	ENSP00000380332:p.Ser698Asn					ITIH5_ENST00000256861.6_Intron|ITIH5_ENST00000298441.6_Intron|ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000446830.2_Intron|ITIH5_ENST00000434980.1_5'UTR	p.S698N	NM_001001851.2	NP_001001851.1	Q86UX2	ITIH5_HUMAN			12	2198	-			0					Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000397145.2	37	c.2093G>A		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	9.441	1.088156	0.20390	.	.	ENSG00000123243	ENST00000397145	T	0.02682	4.2	4.93	-6.99	0.01605	.	.	.	.	.	T	0.01387	0.0045	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.48445	-0.9035	9	0.54805	T	0.06	.	4.359	0.11192	0.1109:0.2095:0.1093:0.5703	.	698	G5E9D8	.	N	698	ENSP00000380332:S698N	ENSP00000380332:S698N	S	-	2	0	ITIH5	7654307	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.312000	0.02720	-1.442000	0.01955	-1.058000	0.02302	AGC		0.388	ITIH5-201	KNOWN	basic	protein_coding	protein_coding		NM_030569		6	60	0	0	0	1	0	6	60				
THRB	7068	broad.mit.edu	37	3	24169196	24169196	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr3:24169196A>C	ENST00000356447.4	-	9	1222	c.938T>G	c.(937-939)aTg>aGg	p.M313R	THRB_ENST00000416420.1_Missense_Mutation_p.M313R|THRB_ENST00000396671.2_Missense_Mutation_p.M313R|THRB_ENST00000280696.5_Missense_Mutation_p.M328R	NM_000461.4|NM_001128177.1	NP_000452.2|NP_001121649.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	313	Interaction with NR2F6.|Ligand-binding.				female courtship behavior (GO:0008050)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of female receptivity (GO:0007621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|sensory perception of sound (GO:0007605)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|Type I pneumocyte differentiation (GO:0060509)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	GCGAAGGGACATGATCTCCAT	0.493																																					Melanoma(21;896 1043 15021 37958)	ENST00000396671.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19	GRCh37	CM961369	THRB	M		c.(937-939)aTg>aGg		thyroid hormone receptor, beta	Levothyroxine(DB00451)|Liothyronine(DB00279)						109.0	98.0	102.0					3																	24169196		2203	4300	6503	SO:0001583	missense	7068				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding	g.chr3:24169196A>C		CCDS2641.1	3p24.2	2013-01-16	2011-05-19		ENSG00000151090	ENSG00000151090		"""Nuclear hormone receptors"""	11799	protein-coding gene	gene with protein product	"""avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2"", ""oncogene ERBA2"", ""generalized resistance to thyroid hormone"", ""thyroid hormone receptor beta 1"""	190160	"""thyroid hormone receptor, beta (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2)"", ""pituitary resistance to thyroid hormone"", ""thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian)"""	ERBA2, PRTH		1973914, 8040303	Standard	NM_000461		Approved	THRB1, THRB2, NR1A2, THR1, ERBA-BETA, GRTH	uc003ccy.4	P10828	OTTHUMG00000130478	ENST00000356447.4:c.938T>G	3.37:g.24169196A>C	ENSP00000348827:p.Met313Arg					THRB_ENST00000416420.1_Missense_Mutation_p.M313R|THRB_ENST00000356447.4_Missense_Mutation_p.M313R|THRB_ENST00000280696.5_Missense_Mutation_p.M328R	p.M313R	NM_001128176.2	NP_001121648.1	P10828	THB_HUMAN			10	1286	-			313			Interaction with NR2F6.|Ligand-binding.		B3KU79|P37243|Q13986|Q3KP35|Q6WGL2|Q9UD41	Missense_Mutation	SNP	ENST00000356447.4	37	c.938T>G	CCDS2641.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.599914	0.87055	.	.	ENSG00000151090	ENST00000396671;ENST00000356447;ENST00000416420;ENST00000280696	D;D;D;D	0.95980	-3.87;-3.87;-3.87;-3.87	5.85	5.85	0.93711	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.123243	0.56097	D	0.000030	D	0.97754	0.9263	M	0.85197	2.74	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	D	0.98523	1.0624	10	0.87932	D	0	.	16.2386	0.82394	1.0:0.0:0.0:0.0	.	313	P10828	THB_HUMAN	R	313;313;313;328	ENSP00000379904:M313R;ENSP00000348827:M313R;ENSP00000414444:M313R;ENSP00000280696:M328R	ENSP00000280696:M328R	M	-	2	0	THRB	24144200	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.315000	0.96313	2.239000	0.73571	0.533000	0.62120	ATG		0.493	THRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252877.3	NM_000461		25	59	0	0	0	1	0	25	59				
RHPN1	114822	broad.mit.edu	37	8	144457813	144457813	+	Missense_Mutation	SNP	C	C	T	rs373261318		TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr8:144457813C>T	ENST00000289013.6	+	2	252	c.151C>T	c.(151-153)Cgg>Tgg	p.R51W		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	51					signal transduction (GO:0007165)		small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			GCTGCAGATGCGGACGGGCGC	0.672																																						ENST00000289013.6																			0				endometrium(1)|large_intestine(1)|lung(7)	9						c.(151-153)Cgg>Tgg		rhophilin, Rho GTPase binding protein 1			TRP/ARG	0,4256		0,0,2128	30.0	38.0	35.0		151	3.6	0.6	8		35	2,8434		0,2,4216	no	missense	RHPN1	NM_052924.2	101	0,2,6344	TT,TC,CC		0.0237,0.0,0.0158	probably-damaging	51/671	144457813	2,12690	2128	4218	6346	SO:0001583	missense	114822				signal transduction	intracellular		g.chr8:144457813C>T	AB067516	CCDS47927.1	8q24.3	2003-02-06			ENSG00000158106	ENSG00000158106			19973	protein-coding gene	gene with protein product		601031				11572484	Standard	NM_052924		Approved	KIAA1929, RHPN, ODF5	uc003yyb.3	Q8TCX5	OTTHUMG00000165006	ENST00000289013.6:c.151C>T	8.37:g.144457813C>T	ENSP00000289013:p.Arg51Trp						p.R51W	NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)		2	252	+	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		51					Q8TAV1|Q96PV9	Missense_Mutation	SNP	ENST00000289013.6	37	c.151C>T	CCDS47927.1	.	.	.	.	.	.	.	.	.	.	c	14.39	2.521058	0.44866	0.0	2.37E-4	ENSG00000158106	ENST00000289013	T	0.23348	1.91	4.56	3.64	0.41730	.	0.134529	0.46758	D	0.000263	T	0.50752	0.1634	M	0.81802	2.56	0.51767	D	0.999933	D	0.89917	1.0	D	0.97110	1.0	T	0.54417	-0.8297	10	0.87932	D	0	-42.6307	11.3237	0.49436	0.4608:0.5392:0.0:0.0	.	51	Q8TCX5-2	.	W	51	ENSP00000289013:R51W	ENSP00000289013:R51W	R	+	1	2	RHPN1	144528956	1.000000	0.71417	0.648000	0.29521	0.294000	0.27393	1.816000	0.38992	0.840000	0.34995	0.639000	0.83563	CGG		0.672	RHPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381417.1			9	36	0	0	0	1	0	9	36				
GRHL3	57822	broad.mit.edu	37	1	24664502	24664502	+	Silent	SNP	C	C	T			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr1:24664502C>T	ENST00000350501.5	+	7	988	c.861C>T	c.(859-861)ttC>ttT	p.F287F	GRHL3_ENST00000356046.2_Silent_p.F241F|GRHL3_ENST00000361548.4_Silent_p.F287F|GRHL3_ENST00000236255.4_Silent_p.F292F|GRHL3_ENST00000342072.4_Silent_p.F194F	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	287					central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		TGGTTGTCTTCGACAATGAGA	0.572																																						ENST00000361548.4																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(859-861)ttC>ttT		grainyhead-like 3 (Drosophila)							137.0	125.0	129.0					1																	24664502		2203	4300	6503	SO:0001819	synonymous_variant	57822				regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:24664502C>T	AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"""transcription factor CP2-like 4"""	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.861C>T	1.37:g.24664502C>T						GRHL3_ENST00000356046.2_Silent_p.F241F|GRHL3_ENST00000350501.5_Silent_p.F287F|GRHL3_ENST00000342072.4_Silent_p.F194F|GRHL3_ENST00000236255.4_Silent_p.F292F	p.F287F	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)	7	1091	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	287					A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Silent	SNP	ENST00000350501.5	37	c.861C>T	CCDS252.2																																																																																				0.572	GRHL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000009047.2	NM_021180		7	71	0	0	0	1	0	7	71				
AK9	221264	broad.mit.edu	37	6	109827629	109827629	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr6:109827629C>G	ENST00000424296.2	-	35	4826	c.4750G>C	c.(4750-4752)Gat>Cat	p.D1584H	AL109947.2_ENST00000517228.1_RNA|RP5-919F19.5_ENST00000423747.2_RNA	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	1584	Adenylate kinase 3.				ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										TGAAATCCATCAATCACATAC	0.348																																						ENST00000424296.2																			0											c.(4750-4752)Gat>Cat		adenylate kinase 9							234.0	173.0	192.0					6																	109827629		692	1591	2283	SO:0001583	missense	221264							g.chr6:109827629C>G	AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.4750G>C	6.37:g.109827629C>G	ENSP00000410186:p.Asp1584His					RP5-919F19.5_ENST00000423747.1_RNA	p.D1584H	NM_001145128.2	NP_001138600.2					35	4826	-								A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP	ENST00000424296.2	37	c.4750G>C	CCDS55048.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.91|17.91	3.505349|3.505349	0.64410|0.64410	.|.	.|.	ENSG00000155085|ENSG00000155085	ENST00000424296|ENST00000470564	T|.	0.39997|.	1.05|.	4.77|4.77	4.77|4.77	0.60923|0.60923	.|.	.|.	.|.	.|.	.|.	T|T	0.69251|0.69251	0.3090|0.3090	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.69510|0.69510	-0.5126|-0.5126	8|5	.|.	.|.	.|.	.|.	18.1537|18.1537	0.89684|0.89684	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1584|.	Q5TCS8|.	AKD1_HUMAN|.	H|F	1584|421	ENSP00000410186:D1584H|.	.|.	D|L	-|-	1|3	0|2	AKD1|AKD1	109934322|109934322	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	2.431000|2.431000	0.44775|0.44775	2.348000|2.348000	0.79779|0.79779	0.655000|0.655000	0.94253|0.94253	GAT|TTG		0.348	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001145128		5	70	0	0	0	1	0	5	70				
RYR1	6261	broad.mit.edu	37	19	38990562	38990562	+	Missense_Mutation	SNP	C	C	T	rs145787667		TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr19:38990562C>T	ENST00000359596.3	+	45	7229	c.7229C>T	c.(7228-7230)cCg>cTg	p.P2410L	RYR1_ENST00000355481.4_Missense_Mutation_p.P2410L|RYR1_ENST00000360985.3_Missense_Mutation_p.P2410L			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2410	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GGTGAGGAACCGCCTGAAGAA	0.632																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(7228-7230)cCg>cTg		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)	C	LEU/PRO,LEU/PRO	2,4404	4.2+/-10.8	0,2,2201	99.0	85.0	90.0		7229,7229	4.0	1.0	19	dbSNP_134	90	0,8600		0,0,4300	yes	missense,missense	RYR1	NM_000540.2,NM_001042723.1	98,98	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign,benign	2410/5039,2410/5034	38990562	2,13004	2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38990562C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.7229C>T	19.37:g.38990562C>T	ENSP00000352608:p.Pro2410Leu					RYR1_ENST00000359596.3_Missense_Mutation_p.P2410L|RYR1_ENST00000360985.3_Missense_Mutation_p.P2410L	p.P2410L	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		45	7360	+	all_cancers(60;7.91e-06)		2410			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.7229C>T	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	9.750	1.167325	0.21621	4.54E-4	0.0	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.97529	-4.42;-4.42;-4.42	3.99	3.99	0.46301	.	0.315220	0.26119	U	0.026225	D	0.92668	0.7670	L	0.43152	1.355	0.40044	D	0.975698	B;P	0.35894	0.048;0.526	B;B	0.25884	0.004;0.064	D	0.91624	0.5313	10	0.40728	T	0.16	.	8.9241	0.35630	0.0:0.894:0.0:0.106	.	2410;2410	P21817-2;P21817	.;RYR1_HUMAN	L	2410	ENSP00000352608:P2410L;ENSP00000347667:P2410L;ENSP00000354254:P2410L	ENSP00000347667:P2410L	P	+	2	0	RYR1	43682402	0.931000	0.31567	1.000000	0.80357	0.196000	0.23810	1.224000	0.32539	2.045000	0.60652	0.297000	0.19635	CCG		0.632	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			5	22	0	0	0	1	0	5	22				
RALGAPA1	253959	broad.mit.edu	37	14	36125042	36125042	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr14:36125042C>G	ENST00000389698.3	-	28	4339	c.3949G>C	c.(3949-3951)Gct>Cct	p.A1317P	RALGAPA1_ENST00000307138.6_Missense_Mutation_p.A1317P|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.A1364P|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.A1330P	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1317					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ACATTCAGAGCTTCCTTAATT	0.318																																						ENST00000258840.6																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(4090-4092)Gct>Cct		Ral GTPase activating protein, alpha subunit 1 (catalytic)							107.0	108.0	108.0					14																	36125042		2203	4300	6503	SO:0001583	missense	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36125042C>G	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.3949G>C	14.37:g.36125042C>G	ENSP00000374348:p.Ala1317Pro					RALGAPA1_ENST00000307138.6_Missense_Mutation_p.A1317P|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.A1330P|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.A1317P	p.A1364P			Q6GYQ0	RGPA1_HUMAN			29	4480	-			1317			Minimal domain that binds to TCF3/E12 (By similarity).		A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	37	c.4090G>C	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.946969	0.92593	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36	5.35	5.35	0.76521	.	0.048322	0.85682	D	0.000000	T	0.81983	0.4938	M	0.72894	2.215	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.999;0.986;0.998;0.991	D	0.83648	0.0154	10	0.72032	D	0.01	-14.7797	19.06	0.93085	0.0:1.0:0.0:0.0	.	1364;1330;1317;1317	Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0	.;.;.;RGPA1_HUMAN	P	1317;1317;1317;1364;1330;1364	ENSP00000374348:A1317P;ENSP00000302647:A1317P;ENSP00000258840:A1364P;ENSP00000371803:A1330P;ENSP00000451877:A1364P	ENSP00000258840:A1364P	A	-	1	0	RALGAPA1	35194793	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.331000	0.79192	2.484000	0.83849	0.650000	0.86243	GCT		0.318	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		10	124	0	0	0	1	0	10	124				
MYEF2	50804	broad.mit.edu	37	15	48443720	48443720	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr15:48443720C>A	ENST00000324324.7	-	13	1535	c.1256G>T	c.(1255-1257)cGt>cTt	p.R419L	MYEF2_ENST00000267836.6_Missense_Mutation_p.R419L	NM_016132.3	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	419	Gly-rich.				myotube differentiation (GO:0014902)|neuron differentiation (GO:0030182)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		AATATCACCACGTCCAAAATC	0.383																																						ENST00000324324.7																			0				endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1255-1257)cGt>cTt		myelin expression factor 2							247.0	256.0	253.0					15																	48443720		2198	4297	6495	SO:0001583	missense	50804				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding	g.chr15:48443720C>A	AB037762	CCDS32230.1, CCDS73722.1	15q15.1	2013-07-16				ENSG00000104177		"""RNA binding motif (RRM) containing"""	17940	protein-coding gene	gene with protein product						10718198, 2601707	Standard	XM_005254422		Approved	MEF-2, FLJ11213, KIAA1341, HsT18564	uc001zwi.4	Q9P2K5		ENST00000324324.7:c.1256G>T	15.37:g.48443720C>A	ENSP00000316950:p.Arg419Leu					MYEF2_ENST00000267836.6_Missense_Mutation_p.R419L	p.R419L	NM_016132.3	NP_057216.2	Q9P2K5	MYEF2_HUMAN		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)	13	1535	-		all_lung(180;0.00217)	419			Gly-rich.		A7MCZ9|C9J921|C9K0J4|Q6NUM5|Q7L388|Q7Z4B7|Q9H922|Q9NUQ1	Missense_Mutation	SNP	ENST00000324324.7	37	c.1256G>T	CCDS32230.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.331170	0.81690	.	.	ENSG00000104177	ENST00000324324;ENST00000267836;ENST00000454655	T;T	0.23552	2.5;1.9	5.59	5.59	0.84812	.	0.047911	0.85682	D	0.000000	T	0.41558	0.1164	L	0.55481	1.735	0.58432	D	0.999997	D;D	0.61697	0.99;0.983	P;P	0.56343	0.796;0.629	T	0.03325	-1.1048	10	0.22706	T	0.39	-8.2852	19.59	0.95506	0.0:1.0:0.0:0.0	.	419;419	Q9P2K5-2;Q9P2K5	.;MYEF2_HUMAN	L	419;419;31	ENSP00000316950:R419L;ENSP00000267836:R419L	ENSP00000267836:R419L	R	-	2	0	MYEF2	46231012	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.023000	0.64084	2.639000	0.89480	0.655000	0.94253	CGT		0.383	MYEF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416909.2	NM_016132		17	134	1	0	7.45023e-12	1	7.94691e-12	17	134				
LRP2	4036	broad.mit.edu	37	2	170068530	170068530	+	Silent	SNP	A	A	G			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr2:170068530A>G	ENST00000263816.3	-	37	6513	c.6228T>C	c.(6226-6228)ttT>ttC	p.F2076F		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2076					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	ATTCCAAGCTAAAGCCTCTGA	0.453																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(6226-6228)ttT>ttC		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						129.0	138.0	135.0					2																	170068530		2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170068530A>G		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.6228T>C	2.37:g.170068530A>G							p.F2076F	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	37	6513	-			2076					O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.6228T>C	CCDS2232.1																																																																																				0.453	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		39	75	0	0	0	1	0	39	75				
TTN	7273	broad.mit.edu	37	2	179466139	179466139	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr2:179466139C>G	ENST00000591111.1	-	237	50886	c.50662G>C	c.(50662-50664)Gtc>Ctc	p.V16888L	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V18529L|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V15961L|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V9656L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V9464L|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V9589L			Q8WZ42	TITIN_HUMAN	titin	16888	Fibronectin type-III 22. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			TCTGGATTGACTTTGGTCCAG	0.458																																						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.(55585-55587)Gtc>Ctc		titin							133.0	128.0	130.0					2																	179466139		1940	4137	6077	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179466139C>G	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.50662G>C	2.37:g.179466139C>G	ENSP00000465570:p.Val16888Leu					TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V9589L|TTN_ENST00000342992.6_Missense_Mutation_p.V15961L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V9464L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V16888L|TTN_ENST00000342175.6_Missense_Mutation_p.V9656L|TTN-AS1_ENST00000585451.1_RNA	p.V18529L	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)		287	55809	-			16888					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.55585G>C		.	.	.	.	.	.	.	.	.	.	C	16.16	3.044959	0.55110	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	5.85	5.85	0.93711	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.61022	0.2314	L	0.42686	1.345	0.58432	D	0.999994	P;P;P;P	0.51791	0.948;0.948;0.948;0.948	P;P;P;P	0.52481	0.622;0.622;0.7;0.7	T	0.62310	-0.6881	9	0.87932	D	0	.	20.1588	0.98128	0.0:1.0:0.0:0.0	.	9464;9589;9656;16888	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	15961;9464;9656;9589;9464	ENSP00000343764:V15961L;ENSP00000434586:V9464L;ENSP00000340554:V9656L;ENSP00000352154:V9589L	ENSP00000340554:V9656L	V	-	1	0	TTN	179174384	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.770000	0.95276	0.563000	0.77884	GTC		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		10	45	0	0	0	1	0	10	45				
NETO1	81832	broad.mit.edu	37	18	70526300	70526300	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr18:70526300C>A	ENST00000327305.6	-	4	887	c.230G>T	c.(229-231)aGa>aTa	p.R77I	NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000299430.2_Missense_Mutation_p.R76I|NETO1_ENST00000397929.1_Missense_Mutation_p.R76I|NETO1_ENST00000583169.1_Missense_Mutation_p.R77I	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	77	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		AATGCACTGTCTTGGAGCGGC	0.368																																						ENST00000327305.6																			0				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63						c.(229-231)aGa>aTa		neuropilin (NRP) and tolloid (TLL)-like 1							57.0	57.0	57.0					18																	70526300		2203	4300	6503	SO:0001583	missense	81832				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	g.chr18:70526300C>A	AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.230G>T	18.37:g.70526300C>A	ENSP00000313088:p.Arg77Ile					NETO1_ENST00000583169.1_Missense_Mutation_p.R77I|NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000397929.1_Missense_Mutation_p.R76I|NETO1_ENST00000299430.2_Missense_Mutation_p.R76I	p.R77I	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	4	887	-		Esophageal squamous(42;0.129)	77			CUB 1.		Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	ENST00000327305.6	37	c.230G>T	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	C	31	5.086296	0.94100	.	.	ENSG00000166342	ENST00000327305;ENST00000299430;ENST00000397929	T;T;T	0.35236	1.32;1.32;1.6	5.35	5.35	0.76521	CUB (5);	0.000000	0.64402	D	0.000003	T	0.65913	0.2737	M	0.84326	2.69	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.996	D;D;D	0.83275	0.996;0.994;0.969	T	0.70439	-0.4871	10	0.87932	D	0	-24.7403	19.438	0.94806	0.0:1.0:0.0:0.0	.	76;76;77	Q8TDF5-1;Q8TDF5-2;Q8TDF5	.;.;NETO1_HUMAN	I	77;76;76	ENSP00000313088:R77I;ENSP00000299430:R76I;ENSP00000381024:R76I	ENSP00000299430:R76I	R	-	2	0	NETO1	68677280	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.724000	0.84798	2.672000	0.90937	0.655000	0.94253	AGA		0.368	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		14	86	1	0	0.000566183	1	0.00057335	14	86				
ZNF304	57343	broad.mit.edu	37	19	57868714	57868714	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr19:57868714C>A	ENST00000282286.5	+	3	1650	c.1477C>A	c.(1477-1479)Cac>Aac	p.H493N	ZNF304_ENST00000391705.3_Missense_Mutation_p.H493N|ZNF304_ENST00000598744.1_Missense_Mutation_p.H451N|ZNF304_ENST00000443917.2_Missense_Mutation_p.H540N			Q9HCX3	ZN304_HUMAN	zinc finger protein 304	493					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		ACTTGTGCAACACCAAAAAAT	0.453																																						ENST00000391705.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26						c.(1477-1479)Cac>Aac		zinc finger protein 304							95.0	95.0	95.0					19																	57868714		2203	4300	6503	SO:0001583	missense	57343				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57868714C>A	AJ276316	CCDS12950.1, CCDS74462.1	19q13.4	2013-01-08				ENSG00000131845		"""Zinc fingers, C2H2-type"", ""-"""	13505	protein-coding gene	gene with protein product		613840					Standard	XM_005259090		Approved		uc010ygw.2	Q9HCX3		ENST00000282286.5:c.1477C>A	19.37:g.57868714C>A	ENSP00000282286:p.His493Asn					ZNF304_ENST00000282286.5_Missense_Mutation_p.H493N|ZNF304_ENST00000443917.2_Missense_Mutation_p.H540N|ZNF304_ENST00000598744.1_Missense_Mutation_p.H451N	p.H493N	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)	4	1761	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	493						Missense_Mutation	SNP	ENST00000282286.5	37	c.1477C>A	CCDS12950.1	.	.	.	.	.	.	.	.	.	.	C	18.41	3.617222	0.66672	.	.	ENSG00000131845	ENST00000282286;ENST00000391705;ENST00000443917	D;D;D	0.86865	-2.18;-2.18;-2.18	4.14	3.09	0.35607	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.92041	0.7478	H	0.97918	4.105	0.30191	N	0.799468	P;P	0.43973	0.823;0.683	B;B	0.40677	0.337;0.191	D	0.90809	0.4700	9	0.87932	D	0	.	12.9575	0.58438	0.1642:0.8358:0.0:0.0	.	493;540	Q9HCX3;E7EQD3	ZN304_HUMAN;.	N	493;493;540	ENSP00000282286:H493N;ENSP00000375586:H493N;ENSP00000401642:H540N	ENSP00000282286:H493N	H	+	1	0	ZNF304	62560526	0.021000	0.18746	0.973000	0.42090	0.936000	0.57629	0.878000	0.28126	1.309000	0.44985	0.650000	0.86243	CAC		0.453	ZNF304-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465785.1			5	53	1	0	3.59834e-05	1	3.6906e-05	5	53				
SETD2	29072	broad.mit.edu	37	3	47125722	47125722	+	Missense_Mutation	SNP	G	G	A	rs376063996		TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr3:47125722G>A	ENST00000409792.3	-	12	5590	c.5548C>T	c.(5548-5550)Cgt>Tgt	p.R1850C	SETD2_ENST00000492397.1_5'Flank	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1850					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GTATGAGCACGCGATGTATTC	0.463			"""N, F, S, Mis"""		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"""N, F, S, Mis"""	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(5548-5550)Cgt>Tgt		SET domain containing 2		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	117.0	100.0	106.0		5548	5.1	1.0	3		106	0,8600		0,0,4300	no	missense	SETD2	NM_014159.6	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	1850/2565	47125722	1,13005	2203	4300	6503	SO:0001583	missense	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47125722G>A	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.5548C>T	3.37:g.47125722G>A	ENSP00000386759:p.Arg1850Cys						p.R1850C	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	12	5590	-		Acute lymphoblastic leukemia(5;0.0169)	1850					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	c.5548C>T	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	G	26.2	4.717440	0.89205	2.27E-4	0.0	ENSG00000181555	ENST00000451092;ENST00000409792	T	0.24538	1.85	5.09	5.09	0.68999	.	0.000000	0.53938	D	0.000041	T	0.47838	0.1467	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.44174	-0.9345	10	0.62326	D	0.03	.	18.8641	0.92283	0.0:0.0:1.0:0.0	.	1850;1850	F2Z317;Q9BYW2	.;SETD2_HUMAN	C	1850	ENSP00000386759:R1850C	ENSP00000386759:R1850C	R	-	1	0	SETD2	47100726	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.422000	0.80217	2.516000	0.84829	0.650000	0.86243	CGT		0.463	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		4	42	0	0	0	1	0	4	42				
CYP2C18	1562	broad.mit.edu	37	10	96480240	96480240	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr10:96480240A>G	ENST00000285979.6	+	6	1106	c.907A>G	c.(907-909)Agc>Ggc	p.S303G	CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Missense_Mutation_p.S244G	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18	303					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	AGAGACAACGAGCACCACTCT	0.423																																						ENST00000285979.6																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26						c.(907-909)Agc>Ggc		cytochrome P450, family 2, subfamily C, polypeptide 18							143.0	132.0	136.0					10																	96480240		2203	4300	6503	SO:0001583	missense	1562							g.chr10:96480240A>G	M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242		"""Cytochrome P450s"""	2620	protein-coding gene	gene with protein product		601131	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18"""	CYP2C17		1896026, 2009263	Standard	NM_000772		Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.907A>G	10.37:g.96480240A>G	ENSP00000285979:p.Ser303Gly					CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Missense_Mutation_p.S244G	p.S303G	NM_000772.2	NP_000763.1				all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	6	1106	+		Colorectal(252;0.09)						B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	Missense_Mutation	SNP	ENST00000285979.6	37	c.907A>G	CCDS7435.1	.	.	.	.	.	.	.	.	.	.	a	11.08	1.534284	0.27475	.	.	ENSG00000108242	ENST00000339022;ENST00000285979	T;T	0.76709	-1.04;-1.04	4.2	4.2	0.49525	.	0.000000	0.85682	U	0.000000	D	0.84451	0.5475	M	0.88704	2.975	0.38035	D	0.935281	P;D	0.54964	0.923;0.969	P;P	0.51415	0.669;0.632	D	0.88235	0.2906	10	0.59425	D	0.04	.	11.2857	0.49220	1.0:0.0:0.0:0.0	.	244;303	Q4VAT5;P33260	.;CP2CI_HUMAN	G	244;303	ENSP00000341293:S244G;ENSP00000285979:S303G	ENSP00000285979:S303G	S	+	1	0	CYP2C18	96470230	0.265000	0.24102	0.175000	0.22980	0.162000	0.22319	1.912000	0.39946	1.744000	0.51775	0.255000	0.18592	AGC		0.423	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049486.1	NM_000772		7	55	0	0	0	1	0	7	55				
CDCP1	64866	broad.mit.edu	37	3	45132715	45132715	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr3:45132715C>A	ENST00000296129.1	-	7	2077	c.1943G>T	c.(1942-1944)gGc>gTc	p.G648V		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	648						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		TAGCTGCTTGCCGCTCGTGGG	0.547																																						ENST00000296129.1																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29						c.(1942-1944)gGc>gTc		CUB domain containing protein 1							85.0	81.0	82.0					3																	45132715		2203	4300	6503	SO:0001583	missense	64866					extracellular region|integral to membrane|plasma membrane		g.chr3:45132715C>A	AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"""CD molecules"""	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.1943G>T	3.37:g.45132715C>A	ENSP00000296129:p.Gly648Val						p.G648V	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)	7	2077	-			648					Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Missense_Mutation	SNP	ENST00000296129.1	37	c.1943G>T	CCDS2727.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.136216	0.56936	.	.	ENSG00000163814	ENST00000296129	T	0.44881	0.91	6.03	5.16	0.70880	.	0.202297	0.52532	D	0.000070	T	0.60209	0.2251	M	0.69823	2.125	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	T	0.63143	-0.6703	10	0.62326	D	0.03	.	9.58	0.39481	0.0:0.7507:0.1187:0.1306	.	648	Q9H5V8	CDCP1_HUMAN	V	648	ENSP00000296129:G648V	ENSP00000296129:G648V	G	-	2	0	CDCP1	45107719	0.943000	0.32029	0.967000	0.41034	0.650000	0.38633	1.044000	0.30329	1.568000	0.49683	0.555000	0.69702	GGC		0.547	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256748.3	NM_022842		11	67	1	0	1.58986e-06	1	1.65181e-06	11	67				
RBM47	54502	broad.mit.edu	37	4	40434728	40434728	+	Silent	SNP	G	G	A			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr4:40434728G>A	ENST00000381793.2	-	5	1878	c.1482C>T	c.(1480-1482)gcC>gcT	p.A494A	RBM47_ENST00000514014.1_Silent_p.A456A|RBM47_ENST00000319592.4_Silent_p.A425A|RBM47_ENST00000295971.7_Silent_p.A494A|RBM47_ENST00000515809.1_5'UTR|RBM47_ENST00000381795.6_Silent_p.A425A			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	494	Ala-rich.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						ctgcggccgcggctgcggcgg	0.577																																						ENST00000319592.4																			0				breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						c.(1273-1275)gcC>gcT		RNA binding motif protein 47							30.0	34.0	33.0					4																	40434728		2180	4279	6459	SO:0001819	synonymous_variant	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40434728G>A	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.1482C>T	4.37:g.40434728G>A						RBM47_ENST00000514014.1_Silent_p.A456A|RBM47_ENST00000381795.6_Silent_p.A425A|RBM47_ENST00000515809.1_5'UTR|RBM47_ENST00000381793.2_Silent_p.A494A|RBM47_ENST00000295971.7_Silent_p.A494A	p.A425A			A0AV96	RBM47_HUMAN			5	1984	-			494					A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Silent	SNP	ENST00000381793.2	37	c.1275C>T	CCDS43223.1																																																																																				0.577	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027		3	46	0	0	0	1	0	3	46				
ATRX	546	broad.mit.edu	37	X	76889175	76889175	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chrX:76889175A>G	ENST00000373344.5	-	18	5049	c.4835T>C	c.(4834-4836)cTt>cCt	p.L1612P	ATRX_ENST00000395603.3_Missense_Mutation_p.L1574P|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1612	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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						GTCACACAAAAGAACTGTATG	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.(4834-4836)cTt>cCt		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						40.0	37.0	38.0					X																	76889175		2202	4295	6497	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:76889175A>G	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.4835T>C	X.37:g.76889175A>G	ENSP00000362441:p.Leu1612Pro					ATRX_ENST00000395603.3_Missense_Mutation_p.L1574P|ATRX_ENST00000480283.1_5'UTR	p.L1612P	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			18	5049	-			1612			Helicase ATP-binding.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.4835T>C	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	A	16.82	3.228492	0.58777	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.94828	-3.53;-3.53	5.46	5.46	0.80206	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.56097	D	0.000022	D	0.97430	0.9159	M	0.87180	2.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98216	1.0475	10	0.87932	D	0	-6.5529	14.7118	0.69238	1.0:0.0:0.0:0.0	.	1574;1612	P46100-4;P46100	.;ATRX_HUMAN	P	1612;1574	ENSP00000362441:L1612P;ENSP00000378967:L1574P	ENSP00000362441:L1612P	L	-	2	0	ATRX	76775831	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.880000	0.92407	1.924000	0.55735	0.481000	0.45027	CTT		0.328	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		10	19	0	0	0	1	0	10	19				
ZNF343	79175	broad.mit.edu	37	20	2473382	2473382	+	Missense_Mutation	SNP	T	T	G			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr20:2473382T>G	ENST00000278772.4	-	5	754	c.267A>C	c.(265-267)gaA>gaC	p.E89D	ZNF343_ENST00000358413.2_Missense_Mutation_p.E89D|RP4-734P14.4_ENST00000461548.1_Missense_Mutation_p.E89D|ZNF343_ENST00000381253.1_Missense_Mutation_p.E89D	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	89	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)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						CCAGCATCACTTCTTTGTATA	0.403																																						ENST00000278772.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						c.(265-267)gaA>gaC		zinc finger protein 343							238.0	220.0	226.0					20																	2473382		2203	4300	6503	SO:0001583	missense	79175				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:2473382T>G	AK096911	CCDS13028.1, CCDS74692.1, CCDS74693.1, CCDS74694.1	20p13	2013-01-08			ENSG00000088876	ENSG00000088876		"""Zinc fingers, C2H2-type"", ""-"""	16017	protein-coding gene	gene with protein product							Standard	NM_001282498		Approved	MGC10715	uc002wge.1	Q6P1L6	OTTHUMG00000031701	ENST00000278772.4:c.267A>C	20.37:g.2473382T>G	ENSP00000278772:p.Glu89Asp					ZNF343_ENST00000358413.2_Missense_Mutation_p.E89D|RP4-734P14.4_ENST00000461548.1_Missense_Mutation_p.E89D|ZNF343_ENST00000381253.1_Missense_Mutation_p.E89D	p.E89D	NM_024325.4	NP_077301.4	Q6P1L6	ZN343_HUMAN			5	754	-			89			KRAB.		Q5JXU8|Q5JXU9|Q8N8F2|Q96EX8|Q96NA5|Q9BQB0	Missense_Mutation	SNP	ENST00000278772.4	37	c.267A>C	CCDS13028.1	.	.	.	.	.	.	.	.	.	.	T	12.76	2.035568	0.35893	.	.	ENSG00000088876	ENST00000278772;ENST00000445484;ENST00000381253;ENST00000358413;ENST00000421216	T;T;T;T;T	0.01304	5.03;5.03;5.03;5.03;5.03	3.96	-1.21	0.09524	Krueppel-associated box (4);	.	.	.	.	T	0.00695	0.0023	N	0.11000	0.08	0.09310	N	1	B	0.18013	0.025	B	0.26202	0.067	T	0.47971	-0.9075	9	0.02654	T	1	.	0.8742	0.01220	0.1636:0.1795:0.3344:0.3225	.	89	Q6P1L6	ZN343_HUMAN	D	89	ENSP00000278772:E89D;ENSP00000399682:E89D;ENSP00000370652:E89D;ENSP00000351188:E89D;ENSP00000416488:E89D	ENSP00000443337:E89D	E	-	3	2	ZNF343	2421382	0.000000	0.05858	0.010000	0.14722	0.977000	0.68977	-1.531000	0.02219	0.001000	0.14605	0.477000	0.44152	GAA		0.403	ZNF343-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077617.1	NM_024325		13	96	0	0	0	1	0	13	96				
LFNG	3955	broad.mit.edu	37	7	2559863	2559863	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr7:2559863A>G	ENST00000222725.5	+	1	388	c.368A>G	c.(367-369)aAa>aGa	p.K123R	LFNG_ENST00000402045.1_Intron|LFNG_ENST00000338732.3_Intron|LFNG_ENST00000402506.1_Intron|LFNG_ENST00000359574.3_Missense_Mutation_p.K123R	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	123					compartment pattern specification (GO:0007386)|female meiotic division (GO:0007143)|metabolic process (GO:0008152)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|ovarian follicle development (GO:0001541)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092)|regulation of Notch signaling pathway (GO:0008593)|regulation of somitogenesis (GO:0014807)|somitogenesis (GO:0001756)	extracellular region (GO:0005576)|integral component of Golgi membrane (GO:0030173)|vesicle (GO:0031982)	metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		AAGACCACCAAAAAGTTCCAC	0.751																																						ENST00000222725.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6						c.(367-369)aAa>aGa		LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase							17.0	22.0	20.0					7																	2559863		2079	4209	6288	SO:0001583	missense	3955				organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	g.chr7:2559863A>G	BC014851	CCDS34586.1, CCDS34587.1, CCDS55081.1, CCDS55082.1	7p22.3	2013-02-19	2006-11-13		ENSG00000106003	ENSG00000106003	2.4.1.222	"""Beta 3-glycosyltransferases"""	6560	protein-coding gene	gene with protein product		602576	"""lunatic fringe (Drosophila) homolog"", ""lunatic fringe homolog (Drosophila)"""			9878264, 9187150	Standard	NM_001166355		Approved	SCDO3	uc003smf.3	Q8NES3	OTTHUMG00000152043	ENST00000222725.5:c.368A>G	7.37:g.2559863A>G	ENSP00000222725:p.Lys123Arg					LFNG_ENST00000402045.1_Intron|LFNG_ENST00000338732.3_Intron|LFNG_ENST00000359574.3_Missense_Mutation_p.K123R|LFNG_ENST00000402506.1_Intron	p.K123R	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)	1	388	+		Ovarian(82;0.0112)	123					B3KTY6|B5MCR5|O00589|Q96C39|Q9UJW5	Missense_Mutation	SNP	ENST00000222725.5	37	c.368A>G	CCDS34587.1	.	.	.	.	.	.	.	.	.	.	a	11.04	1.521485	0.27211	.	.	ENSG00000106003	ENST00000222725;ENST00000359574	T;T	0.64438	-0.1;-0.1	4.19	-1.14	0.09741	.	0.174857	0.48767	N	0.000171	T	0.36358	0.0964	N	0.16368	0.405	0.80722	D	1	B;B	0.13145	0.007;0.004	B;B	0.20384	0.013;0.029	T	0.05989	-1.0852	10	0.14656	T	0.56	-0.2128	6.3942	0.21603	0.3431:0.15:0.5068:0.0	.	123;123	Q8NES3-3;Q8NES3	.;LFNG_HUMAN	R	123	ENSP00000222725:K123R;ENSP00000352579:K123R	ENSP00000222725:K123R	K	+	2	0	LFNG	2526389	1.000000	0.71417	0.008000	0.14137	0.987000	0.75469	1.994000	0.40757	-0.584000	0.05913	-0.376000	0.06991	AAA		0.751	LFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325021.1	NM_002304		4	35	0	0	0	1	0	4	35				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			8	53	0	0	0	1	0	8	53				
SPTB	6710	broad.mit.edu	37	14	65236307	65236307	+	Splice_Site	SNP	C	C	T			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr14:65236307C>T	ENST00000389721.5	-	27	5970		c.e27+1		SPTB_ENST00000542895.1_Splice_Site|SPTB_ENST00000389720.3_Splice_Site|SPTB_ENST00000389722.3_Splice_Site|SPTB_ENST00000556626.1_Splice_Site	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic						actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		AGTCCCCTCACCTCCTCTGAG	0.627																																						ENST00000389722.3																			0				breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.e27+1		spectrin, beta, erythrocytic							37.0	39.0	38.0					14																	65236307		2203	4300	6503	SO:0001630	splice_region_variant	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65236307C>T		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.5937+1G>A	14.37:g.65236307C>T						SPTB_ENST00000542895.1_Splice_Site|SPTB_ENST00000389721.5_Splice_Site|SPTB_ENST00000389720.3_Splice_Site|SPTB_ENST00000556626.1_Splice_Site		NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	27	5991	-		all_lung(585;4.15e-09)						Q15510|Q15519	Splice_Site	SNP	ENST00000389721.5	37		CCDS32100.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.737486	0.89482	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000335612;ENST00000553938;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	.	.	.	4.93	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4489	0.87586	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SPTB	64306060	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.583000	0.82559	2.719000	0.93026	0.555000	0.69702	.		0.627	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1		Intron	4	34	0	0	0	1	0	4	34				
CTSL3P	392360	broad.mit.edu	37	9	90388505	90388505	+	RNA	SNP	T	T	C	rs555129058		TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr9:90388505T>C	ENST00000354530.2	+	0	371					NR_027917.1		Q5NE16	CATL3_HUMAN	cathepsin L family member 3, pseudogene								cysteine-type peptidase activity (GO:0008234)										GCTTCCAGTATGTTGCCGACA	0.453																																						ENST00000354530.2																			0																				152.0	142.0	145.0					9																	90388505		2203	4300	6503			0							g.chr9:90388505T>C	AJ851862		9q21.33	2013-01-07	2013-01-07	2013-01-07	ENSG00000188029	ENSG00000188029		"""Cathepsins"""	33132	pseudogene	pseudogene			"""cathepsin L family member 3"""	CTSL3		19663681	Standard	NR_027917		Approved	HCTSL-s	uc004apm.1	Q5NE16	OTTHUMG00000020152		9.37:g.90388505T>C								NR_027917.1						0	371	+									RNA	SNP	ENST00000354530.2	37																																																																																						0.453	CTSL3P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000356542.1	NR_027917		4	75	0	0	0	1	0	4	75				
SIN3B	23309	broad.mit.edu	37	19	16973733	16973733	+	Silent	SNP	C	C	T			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr19:16973733C>T	ENST00000379803.1	+	10	1319	c.1305C>T	c.(1303-1305)gaC>gaT	p.D435D	SIN3B_ENST00000248054.5_Intron|SIN3B_ENST00000595541.1_5'Flank	NM_015260.2	NP_056075.1			SIN3 transcription regulator family member B											endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						CGTGGACAGACGATTACTGCA	0.537																																						ENST00000379803.1																			0				endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1303-1305)gaC>gaT		SIN3 transcription regulator family member B							239.0	222.0	227.0					19																	16973733		2203	4300	6503	SO:0001819	synonymous_variant	23309				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding	g.chr19:16973733C>T	AB014600	CCDS32946.1, CCDS74308.1	19p13.12	2013-08-21	2013-08-21						19354	protein-coding gene	gene with protein product		607777	"""SIN3 homolog B, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog B (yeast)"""			9734811	Standard	XM_005259832		Approved	KIAA0700	uc002ney.2	O75182		ENST00000379803.1:c.1305C>T	19.37:g.16973733C>T						SIN3B_ENST00000248054.5_Intron	p.D435D	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN			10	1319	+			435			Interaction with NCOR1 (By similarity).|Interaction with SDS3 and HDAC1 (By similarity).			Silent	SNP	ENST00000379803.1	37	c.1305C>T	CCDS32946.1																																																																																				0.537	SIN3B-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462848.1	NM_015260		45	230	0	0	0	1	0	45	230				
FOXA1	3169	broad.mit.edu	37	14	38060667	38060667	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr14:38060667C>G	ENST00000250448.2	-	2	1383	c.1322G>C	c.(1321-1323)aGc>aCc	p.S441T	FOXA1_ENST00000540786.1_Missense_Mutation_p.S408T|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	441					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CACCGAGGCGCTGCCTAGAGG	0.602																																						ENST00000250448.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(1321-1323)aGc>aCc		forkhead box A1							64.0	64.0	64.0					14																	38060667		2203	4300	6503	SO:0001583	missense	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38060667C>G	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.1322G>C	14.37:g.38060667C>G	ENSP00000250448:p.Ser441Thr					FOXA1_ENST00000540786.1_Missense_Mutation_p.S408T|FOXA1_ENST00000545425.2_5'UTR	p.S441T	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	1383	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		441					B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	ENST00000250448.2	37	c.1322G>C	CCDS9665.1	.	.	.	.	.	.	.	.	.	.	C	9.978	1.227419	0.22542	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	D;D	0.91686	-2.88;-2.89	4.29	4.29	0.51040	Forkhead box protein, C-terminal (1);	0.110734	0.64402	D	0.000014	D	0.87537	0.6202	L	0.36672	1.1	0.40518	D	0.980805	B	0.17268	0.021	B	0.23716	0.048	D	0.83373	0.0008	10	0.16420	T	0.52	.	15.6488	0.77076	0.0:1.0:0.0:0.0	.	441	P55317	FOXA1_HUMAN	T	441;408	ENSP00000250448:S441T;ENSP00000440178:S408T	ENSP00000250448:S441T	S	-	2	0	FOXA1	37130418	1.000000	0.71417	1.000000	0.80357	0.443000	0.32047	5.996000	0.70639	2.218000	0.71995	0.400000	0.26472	AGC		0.602	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			5	45	0	0	0	1	0	5	45				
KDR	3791	broad.mit.edu	37	4	55962466	55962466	+	Silent	SNP	G	G	C			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr4:55962466G>C	ENST00000263923.4	-	19	2953	c.2658C>G	c.(2656-2658)ctC>ctG	p.L886L		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	886	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGAGGATCTTGAGTTCAGACA	0.448			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												ENST00000263923.4				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			"""NSCLC, angiosarcoma"""		0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135						c.(2656-2658)ctC>ctG		kinase insert domain receptor (a type III receptor tyrosine kinase)	Sorafenib(DB00398)|Sunitinib(DB01268)						243.0	210.0	221.0					4																	55962466		2203	4300	6503	SO:0001819	synonymous_variant	3791				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55962466G>C	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.2658C>G	4.37:g.55962466G>C		TSP Lung(20;0.16)					p.L886L	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		19	2953	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		886			Protein kinase.		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Silent	SNP	ENST00000263923.4	37	c.2658C>G	CCDS3497.1																																																																																				0.448	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			15	110	0	0	0	1	0	15	110				
DNAH3	55567	broad.mit.edu	37	16	21147795	21147795	+	Missense_Mutation	SNP	T	T	A			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr16:21147795T>A	ENST00000261383.3	-	6	735	c.736A>T	c.(736-738)Atg>Ttg	p.M246L	DNAH3_ENST00000415178.1_Missense_Mutation_p.M246L	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	246	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GGGGCAATCATGTCTTTGCGA	0.473																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(736-738)Atg>Ttg		dynein, axonemal, heavy chain 3							184.0	172.0	176.0					16																	21147795		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21147795T>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.736A>T	16.37:g.21147795T>A	ENSP00000261383:p.Met246Leu					DNAH3_ENST00000415178.1_Missense_Mutation_p.M246L	p.M246L	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	6	735	-			246			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.736A>T	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	T	12.07	1.827649	0.32329	.	.	ENSG00000158486	ENST00000261383;ENST00000415178;ENST00000396036	T;T	0.21361	2.01;2.15	5.77	4.65	0.58169	.	0.117828	0.64402	D	0.000016	T	0.20901	0.0503	M	0.64404	1.975	0.41277	D	0.98688	B;B	0.33379	0.07;0.41	B;B	0.30943	0.009;0.122	T	0.02966	-1.1088	10	0.19147	T	0.46	.	12.0032	0.53243	0.0:0.0:0.1451:0.8549	.	246;217	Q8TD57;Q8TD57-2	DYH3_HUMAN;.	L	246;246;217	ENSP00000261383:M246L;ENSP00000394245:M246L	ENSP00000261383:M246L	M	-	1	0	DNAH3	21055296	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	3.905000	0.56333	0.975000	0.38392	0.533000	0.62120	ATG		0.473	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		10	83	0	0	0	1	0	10	83				
USP12	219333	broad.mit.edu	37	13	27664086	27664086	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr13:27664086T>C	ENST00000282344.6	-	6	924	c.668A>G	c.(667-669)gAa>gGa	p.E223G		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	223	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		GCACAGAGTTTCTGTGTTGCT	0.323																																					Ovarian(37;808 911 7590 44442 44991)	ENST00000282344.6																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(667-669)gAa>gGa		ubiquitin specific peptidase 12							55.0	55.0	55.0					13																	27664086		2203	4300	6503	SO:0001583	missense	219333				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr13:27664086T>C	AL049221	CCDS31952.1	13q12.13	2010-05-12	2005-08-08	2003-10-08	ENSG00000152484	ENSG00000152484		"""Ubiquitin-specific peptidases"""	20485	protein-coding gene	gene with protein product			"""ubiquitin specific protease 12 like 1"", ""ubiquitin specific protease 12"""	USP12L1		12838346	Standard	NM_182488		Approved		uc001uqy.3	O75317	OTTHUMG00000016626	ENST00000282344.6:c.668A>G	13.37:g.27664086T>C	ENSP00000282344:p.Glu223Gly						p.E223G	NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)	6	924	-		Lung SC(185;0.0161)	223					A8K0X0|Q5VZV3|Q8TC49	Missense_Mutation	SNP	ENST00000282344.6	37	c.668A>G	CCDS31952.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.466883	0.84425	.	.	ENSG00000152484	ENST00000282344	T	0.11495	2.77	5.22	5.22	0.72569	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.53834	0.1821	H	0.99507	4.6	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.76066	-0.3095	10	0.87932	D	0	-21.7793	15.4004	0.74834	0.0:0.0:0.0:1.0	.	223	O75317	UBP12_HUMAN	G	223	ENSP00000282344:E223G	ENSP00000282344:E223G	E	-	2	0	USP12	26562086	1.000000	0.71417	0.988000	0.46212	0.956000	0.61745	7.565000	0.82337	2.113000	0.64589	0.482000	0.46254	GAA		0.323	USP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044264.1	NM_182488		7	71	0	0	0	1	0	7	71				
ENGASE	64772	broad.mit.edu	37	17	77075619	77075619	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr17:77075619G>T	ENST00000579016.1	+	4	465	c.465G>T	c.(463-465)tgG>tgT	p.W155C	ENGASE_ENST00000539857.2_Intron	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	155						cytoplasm (GO:0005737)	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity (GO:0033925)			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						TCTACCACTGGCAGTGCATCG	0.582																																						ENST00000579016.1																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						c.(463-465)tgG>tgT		endo-beta-N-acetylglucosaminidase							147.0	164.0	158.0					17																	77075619		2073	4206	6279	SO:0001583	missense	64772					cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity	g.chr17:77075619G>T	AF512564	CCDS42394.1	17q25.3	2009-03-03			ENSG00000167280	ENSG00000167280	3.2.1.96		24622	protein-coding gene	gene with protein product	"""Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase"", ""Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase"""	611898				12114544, 18586680	Standard	NM_001042573		Approved	FLJ21865	uc002jwv.4	Q8NFI3	OTTHUMG00000167714	ENST00000579016.1:c.465G>T	17.37:g.77075619G>T	ENSP00000462333:p.Trp155Cys					ENGASE_ENST00000539857.2_Intron	p.W155C	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN			4	465	+			155					Q659F0|Q8TB86|Q9H6U4	Missense_Mutation	SNP	ENST00000579016.1	37	c.465G>T	CCDS42394.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.231179	0.79688	.	.	ENSG00000167280	ENST00000311595;ENST00000545583	.	.	.	5.22	5.22	0.72569	Glycoside hydrolase, family 85 (1);	0.155205	0.64402	D	0.000017	D	0.86138	0.5861	M	0.92691	3.335	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.89387	0.3686	9	0.87932	D	0	-0.9458	17.3151	0.87221	0.0:0.0:1.0:0.0	.	155;155	Q8NFI3;Q8NFI3-3	ENASE_HUMAN;.	C	155	.	ENSP00000308158:W155C	W	+	3	0	ENGASE	74587214	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	8.996000	0.93539	2.587000	0.87381	0.655000	0.94253	TGG		0.582	ENGASE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395807.1	NM_022759		34	89	1	0	5.71845e-15	1	6.2668e-15	34	89				
IRF1	3659	broad.mit.edu	37	5	131822746	131822746	+	Silent	SNP	C	C	A			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr5:131822746C>A	ENST00000245414.4	-	4	522	c.264G>T	c.(262-264)ctG>ctT	p.L88L	IRF1_ENST00000463784.1_5'UTR|IRF1_ENST00000405885.2_Silent_p.L88L	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	88					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell cycle arrest (GO:0007050)|cellular response to interferon-beta (GO:0035458)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000564)|regulation of cell cycle (GO:0051726)|regulation of innate immune response (GO:0045088)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		CGATATCTGGCAGGGAGTTCA	0.542																																						ENST00000245414.4																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11						c.(262-264)ctG>ctT		interferon regulatory factor 1							402.0	377.0	385.0					5																	131822746		2203	4300	6503	SO:0001819	synonymous_variant	3659				blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm		g.chr5:131822746C>A		CCDS4155.1	5q23-q31	2008-07-18			ENSG00000125347	ENSG00000125347			6116	protein-coding gene	gene with protein product	"""interferon regulatory factor-1"""	147575				2726461, 1680796	Standard	NM_002198		Approved	MAR	uc003kxa.2	P10914	OTTHUMG00000059497	ENST00000245414.4:c.264G>T	5.37:g.131822746C>A						IRF1_ENST00000405885.2_Silent_p.L88L|IRF1_ENST00000463784.1_5'UTR	p.L88L	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)	4	522	-		all_cancers(142;0.026)|Breast(839;0.198)	88					Q96GG7	Silent	SNP	ENST00000245414.4	37	c.264G>T	CCDS4155.1																																																																																				0.542	IRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132340.1	NM_002198		5	312	1	0	0.014758	1	0.014758	5	312				
FAM47A	158724	broad.mit.edu	37	X	34148669	34148669	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chrX:34148669C>T	ENST00000346193.3	-	1	1778	c.1727G>A	c.(1726-1728)cGa>cAa	p.R576Q		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	576								p.R576Q(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GTAGGATGCTCGAATCTTGGG	0.512																																						ENST00000346193.3																			2	Substitution - Missense(2)	p.R576Q(2)	lung(1)|skin(1)	NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						c.(1726-1728)cGa>cAa		family with sequence similarity 47, member A							81.0	76.0	78.0					X																	34148669		2152	4258	6410	SO:0001583	missense	158724							g.chrX:34148669C>T	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1727G>A	X.37:g.34148669C>T	ENSP00000345029:p.Arg576Gln						p.R576Q	NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN			1	1778	-			576					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.1727G>A	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	c	5.920	0.353746	0.11182	.	.	ENSG00000185448	ENST00000346193	T	0.12255	2.7	1.09	-2.19	0.07015	.	.	.	.	.	T	0.05823	0.0152	N	0.02539	-0.55	0.09310	N	1	D	0.62365	0.991	P	0.53649	0.731	T	0.04840	-1.0923	9	0.13108	T	0.6	.	0.3516	0.00350	0.209:0.249:0.302:0.24	.	576	Q5JRC9	FA47A_HUMAN	Q	576	ENSP00000345029:R576Q	ENSP00000345029:R576Q	R	-	2	0	FAM47A	34058590	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.226000	0.09139	-1.193000	0.02688	-0.729000	0.03580	CGA		0.512	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		3	14	0	0	0	1	0	3	14				
MBOAT2	129642	broad.mit.edu	37	2	9000752	9000752	+	Missense_Mutation	SNP	G	G	A	rs139368884		TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr2:9000752G>A	ENST00000305997.3	-	12	1526	c.1328C>T	c.(1327-1329)aCg>aTg	p.T443M	MBOAT2_ENST00000486484.1_5'Flank	NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN	membrane bound O-acyltransferase domain containing 2	443					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)		MBOAT2/PRKCE(2)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCTGTAAAACGTGAGTGATGG	0.313																																					Ovarian(194;1699 3813 22401)	ENST00000305997.3																		MBOAT2/PRKCE(2)	0				endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15						c.(1327-1329)aCg>aTg		membrane bound O-acyltransferase domain containing 2		G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	102.0	98.0	100.0		1328	-9.8	0.0	2	dbSNP_134	100	1,8595		0,1,4297	no	missense	MBOAT2	NM_138799.2	81	0,2,6499	AA,AG,GG		0.0116,0.0227,0.0154	benign	443/521	9000752	2,13000	2203	4298	6501	SO:0001583	missense	129642				phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr2:9000752G>A	BC016005	CCDS1660.1	2p25	2008-02-05	2006-06-29	2006-06-29	ENSG00000143797	ENSG00000143797			25193	protein-coding gene	gene with protein product		611949	"""O-acyltransferase (membrane bound) domain containing 2"""	OACT2			Standard	NM_138799		Approved	FLJ14415, FLJ90298	uc002qzg.1	Q6ZWT7	OTTHUMG00000090363	ENST00000305997.3:c.1328C>T	2.37:g.9000752G>A	ENSP00000302177:p.Thr443Met						p.T443M	NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN			12	1526	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		443					A9EDR2|Q8NCE7|Q96KY4	Missense_Mutation	SNP	ENST00000305997.3	37	c.1328C>T	CCDS1660.1	.	.	.	.	.	.	.	.	.	.	G	2.643	-0.283694	0.05642	2.27E-4	1.16E-4	ENSG00000143797	ENST00000305997	T	0.81078	-1.45	5.96	-9.8	0.00490	.	0.556195	0.20108	N	0.099096	T	0.52837	0.1759	N	0.12746	0.255	0.09310	N	0.999999	B	0.16396	0.017	B	0.09377	0.004	T	0.27971	-1.0058	10	0.36615	T	0.2	-2.5099	7.7145	0.28696	0.2311:0.0:0.4384:0.3304	.	443	Q6ZWT7	MBOA2_HUMAN	M	443	ENSP00000302177:T443M	ENSP00000302177:T443M	T	-	2	0	MBOAT2	8918203	0.005000	0.15991	0.002000	0.10522	0.001000	0.01503	-0.053000	0.11846	-2.098000	0.00850	-2.290000	0.00267	ACG		0.313	MBOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206735.1	NM_138799		5	52	0	0	0	1	0	5	52				
TMTC4	84899	broad.mit.edu	37	13	101257376	101257376	+	Nonsense_Mutation	SNP	C	C	A	rs200326246		TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr13:101257376C>A	ENST00000376234.3	-	18	2287	c.2098G>T	c.(2098-2100)Gga>Tga	p.G700*	TMTC4_ENST00000342624.5_Nonsense_Mutation_p.G719*|TMTC4_ENST00000328767.5_Nonsense_Mutation_p.G589*	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	700						integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TCTAGATGTCCCCAACGATGA	0.448																																						ENST00000342624.5																			0				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(2155-2157)Gga>Tga		transmembrane and tetratricopeptide repeat containing 4							217.0	191.0	200.0					13																	101257376		2203	4300	6503	SO:0001587	stop_gained	84899					integral to membrane	binding	g.chr13:101257376C>A		CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247		"""Tetratricopeptide (TTC) repeat domain containing"""	25904	protein-coding gene	gene with protein product							Standard	XM_005254082		Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000376234.3:c.2098G>T	13.37:g.101257376C>A	ENSP00000365408:p.Gly700*					TMTC4_ENST00000376234.3_Nonsense_Mutation_p.G700*|TMTC4_ENST00000328767.5_Nonsense_Mutation_p.G589*	p.G719*	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN			19	2413	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		700					A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Nonsense_Mutation	SNP	ENST00000376234.3	37	c.2155G>T	CCDS41904.1	.	.	.	.	.	.	.	.	.	.	C	41	8.644848	0.98899	.	.	ENSG00000125247	ENST00000376234;ENST00000342624;ENST00000328767	.	.	.	6.15	6.15	0.99193	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	20.8387	0.99724	0.0:1.0:0.0:0.0	.	.	.	.	X	700;719;589	.	ENSP00000365409:G589X	G	-	1	0	TMTC4	100055377	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.480000	0.81109	2.932000	0.99384	0.643000	0.83706	GGA		0.448	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045649.2	NM_032813		14	100	1	0	4.3838e-07	1	4.61453e-07	14	100				
GUF1	60558	broad.mit.edu	37	4	44684369	44684369	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr4:44684369G>C	ENST00000281543.5	+	5	720	c.526G>C	c.(526-528)Gta>Cta	p.V176L	GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2			GUF1 GTPase homolog (S. cerevisiae)											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						AGCCCAAACTGTAGCAAACTT	0.328																																						ENST00000281543.5																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						c.(526-528)Gta>Cta		GUF1 GTPase homolog (S. cerevisiae)							116.0	121.0	119.0					4																	44684369		2203	4298	6501	SO:0001583	missense	60558				translation	mitochondrial inner membrane	GTP binding|GTPase activity	g.chr4:44684369G>C		CCDS3468.1	4p13	2006-02-16			ENSG00000151806	ENSG00000151806			25799	protein-coding gene	gene with protein product						8553703	Standard	NM_021927		Approved	FLJ13220	uc003gww.4	Q8N442	OTTHUMG00000128608	ENST00000281543.5:c.526G>C	4.37:g.44684369G>C	ENSP00000281543:p.Val176Leu					GUF1_ENST00000506793.1_3'UTR	p.V176L	NM_021927.2	NP_068746.2	Q8N442	GUF1_HUMAN			5	720	+			176						Missense_Mutation	SNP	ENST00000281543.5	37	c.526G>C	CCDS3468.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.087329	0.36855	.	.	ENSG00000151806	ENST00000281543	T	0.75589	-0.95	5.55	5.55	0.83447	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	T	0.63319	0.2501	N	0.10916	0.065	0.80722	D	1	P	0.35307	0.494	P	0.45276	0.475	T	0.59685	-0.7408	10	0.02654	T	1	-19.3972	18.4953	0.90863	0.0:0.0:1.0:0.0	.	176	Q8N442	GUF1_HUMAN	L	176	ENSP00000281543:V176L	ENSP00000281543:V176L	V	+	1	0	GUF1	44379126	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.279000	0.65597	2.590000	0.87494	0.655000	0.94253	GTA		0.328	GUF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250469.3	NM_021927		32	123	0	0	0	1	0	32	123				
CNTNAP3B	728577	broad.mit.edu	37	9	43915893	43915893	+	Missense_Mutation	SNP	G	G	C	rs62538181|rs200215881		TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr9:43915893G>C	ENST00000377564.3	+	23	4134	c.3741G>C	c.(3739-3741)atG>atC	p.M1247I		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	1247					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						CTGCTGTCATGGGAGGTAACA	0.433																																						ENST00000377564.3																			0				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						c.(3739-3741)atG>atC		contactin associated protein-like 3B																																				SO:0001583	missense	728577				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr9:43915893G>C	BX538190	CCDS75836.1	9p12	2007-12-14			ENSG00000154529	ENSG00000154529			32035	protein-coding gene	gene with protein product						15820314	Standard	XM_006716853		Approved		uc004abr.1	Q96NU0	OTTHUMG00000013174	ENST00000377564.3:c.3741G>C	9.37:g.43915893G>C	ENSP00000366787:p.Met1247Ile						p.M1247I	NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN			23	4134	+			1247					B1B0V7|B1B0V8|B1B0V9|B1B0W0|B1B0X8|B1B162|Q4VXF0|Q9H7W3	Missense_Mutation	SNP	ENST00000377564.3	37	c.3741G>C	CCDS55312.1	.	.	.	.	.	.	.	.	.	.	C	1.267	-0.614036	0.03690	.	.	ENSG00000154529	ENST00000377564;ENST00000377555	T	0.23552	1.9	2.87	-2.82	0.05787	.	.	.	.	.	T	0.03053	0.0090	N	0.00018	-2.82	0.09310	P	0.9999999999977237	B	0.02656	0.0	B	0.01281	0.0	T	0.44267	-0.9339	8	0.11794	T	0.64	.	7.2283	0.26028	0.0:0.1691:0.1448:0.6861	.	161	E9PBG0	.	I	1247;161	ENSP00000366787:M1247I	ENSP00000366778:M161I	M	+	3	0	CNTNAP3B	43855889	0.990000	0.36364	0.901000	0.35422	0.347000	0.29111	0.022000	0.13511	-1.052000	0.03222	-2.091000	0.00372	ATG		0.433	CNTNAP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036930.3			4	33	0	0	0	1	0	4	33				
ANAPC1	64682	broad.mit.edu	37	2	112638298	112638298	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr2:112638298C>G	ENST00000341068.3	-	2	877	c.105G>C	c.(103-105)ttG>ttC	p.L35F	ANAPC1_ENST00000489177.1_5'UTR	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	35					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GTTGAAGGTTCAAAGCATTAG	0.488																																						ENST00000341068.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						c.(103-105)ttG>ttC		anaphase promoting complex subunit 1							64.0	62.0	63.0					2																	112638298		2203	4299	6502	SO:0001583	missense	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112638298C>G	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.105G>C	2.37:g.112638298C>G	ENSP00000339109:p.Leu35Phe					ANAPC1_ENST00000489177.1_5'UTR	p.L35F	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN			2	877	-			35					Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	c.105G>C	CCDS2093.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.753790	0.49362	.	.	ENSG00000153107	ENST00000341068	.	.	.	5.83	5.83	0.93111	.	0.148820	0.26836	U	0.022242	T	0.46464	0.1394	N	0.21097	0.63	0.36084	D	0.842976	B;B	0.14438	0.01;0.002	B;B	0.16722	0.016;0.003	T	0.48801	-0.9003	9	0.39692	T	0.17	-11.9452	16.2946	0.82763	0.0:0.8675:0.1325:0.0	.	35;35	F8WAS1;Q9H1A4	.;APC1_HUMAN	F	35	.	ENSP00000339109:L35F	L	-	3	2	ANAPC1	112354769	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.687000	0.54692	2.747000	0.94245	0.585000	0.79938	TTG		0.488	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		6	37	0	0	0	1	0	6	37				
FLG2	388698	broad.mit.edu	37	1	152325478	152325478	+	Missense_Mutation	SNP	C	C	T	rs201802558		TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr1:152325478C>T	ENST00000388718.5	-	3	4856	c.4784G>A	c.(4783-4785)cGa>cAa	p.R1595Q	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1595					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTGTGTTCTCGTGAGTGTGG	0.512																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(4783-4785)cGa>cAa		filaggrin family member 2							344.0	299.0	315.0					1																	152325478		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152325478C>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.4784G>A	1.37:g.152325478C>T	ENSP00000373370:p.Arg1595Gln					FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.R1595Q	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4856	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1595					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.4784G>A	CCDS30861.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	4.461	0.085382	0.08583	.	.	ENSG00000143520	ENST00000388718	T	0.03860	3.78	.	.	.	.	.	.	.	.	T	0.00552	0.0018	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.44787	-0.9305	5	0.08599	T	0.76	.	.	.	.	.	1595	Q5D862	FILA2_HUMAN	Q	1595	ENSP00000373370:R1595Q	ENSP00000373370:R1595Q	R	-	2	0	FLG2	150592102	0.002000	0.14202	0.001000	0.08648	0.029000	0.11900	-0.175000	0.09825	0.064000	0.16427	0.064000	0.15345	CGA		0.512	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		77	136	0	0	0	1	0	77	136				
TRPM3	80036	broad.mit.edu	37	9	73235249	73235249	+	Silent	SNP	T	T	C			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr9:73235249T>C	ENST00000377111.2	-	15	2079	c.1836A>G	c.(1834-1836)acA>acG	p.T612T	TRPM3_ENST00000408909.2_Silent_p.T471T|TRPM3_ENST00000357533.2_Silent_p.T616T|TRPM3_ENST00000360823.2_Silent_p.T474T|TRPM3_ENST00000377106.1_Silent_p.T484T|TRPM3_ENST00000358082.3_Silent_p.T474T|TRPM3_ENST00000396285.1_Silent_p.T459T|TRPM3_ENST00000377110.3_Silent_p.T612T|TRPM3_ENST00000396292.4_Silent_p.T484T|TRPM3_ENST00000396280.5_Silent_p.T461T|TRPM3_ENST00000377105.1_Silent_p.T471T|TRPM3_ENST00000423814.3_Silent_p.T639T	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	637					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GTTTCTTGGTTGTCTTTCTTC	0.448																																						ENST00000377110.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(1834-1836)acA>acG		transient receptor potential cation channel, subfamily M, member 3							285.0	258.0	267.0					9																	73235249		2203	4300	6503	SO:0001819	synonymous_variant	80036					integral to membrane	calcium channel activity	g.chr9:73235249T>C	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.1836A>G	9.37:g.73235249T>C						TRPM3_ENST00000377105.1_Silent_p.T471T|TRPM3_ENST00000377106.1_Silent_p.T484T|TRPM3_ENST00000408909.2_Silent_p.T471T|TRPM3_ENST00000396292.4_Silent_p.T484T|TRPM3_ENST00000377111.2_Silent_p.T612T|TRPM3_ENST00000396285.1_Silent_p.T459T|TRPM3_ENST00000396280.5_Silent_p.T461T|TRPM3_ENST00000358082.3_Silent_p.T474T|TRPM3_ENST00000360823.2_Silent_p.T474T|TRPM3_ENST00000357533.2_Silent_p.T616T|TRPM3_ENST00000423814.3_Silent_p.T639T	p.T612T	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN			15	2079	-			637					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Silent	SNP	ENST00000377111.2	37	c.1836A>G		.	.	.	.	.	.	.	.	.	.	T	9.587	1.125032	0.20959	.	.	ENSG00000083067	ENST00000396280	.	.	.	6.07	-8.43	0.00953	.	.	.	.	.	T	0.43277	0.1240	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49844	-0.8896	4	.	.	.	-18.6028	5.2776	0.15659	0.0809:0.165:0.4453:0.3088	.	.	.	.	D	461	.	.	N	-	1	0	TRPM3	72425069	0.949000	0.32298	0.916000	0.36221	0.991000	0.79684	0.024000	0.13555	-1.092000	0.03062	0.528000	0.53228	AAC		0.448	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		21	207	0	0	0	1	0	21	207				
UPF3A	65110	broad.mit.edu	37	13	115047559	115047559	+	Silent	SNP	C	C	T			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr13:115047559C>T	ENST00000375299.3	+	2	327	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L	UPF3A_ENST00000351487.5_Silent_p.L91L	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	91	Required for interaction with UPF2.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleocytoplasmic transport (GO:0006913)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.L91L(8)		autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GCTGCGCCCGCTGCCAGCACA	0.731																																						ENST00000375299.3																			8	Substitution - coding silent(8)	p.L91L(8)	lung(2)|prostate(2)|kidney(2)|central_nervous_system(2)	autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16						c.(271-273)Ctg>Ttg		UPF3 regulator of nonsense transcripts homolog A (yeast)							4.0	4.0	4.0					13																	115047559		1902	3804	5706	SO:0001819	synonymous_variant	65110				mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	g.chr13:115047559C>T	AF318575	CCDS9543.1, CCDS9544.1	13q34	2010-04-30			ENSG00000169062	ENSG00000169062			20332	protein-coding gene	gene with protein product		605530				11113196, 11163187	Standard	NM_023011		Approved	RENT3A, UPF3, HUPF3A	uc001vup.3	Q9H1J1	OTTHUMG00000017403	ENST00000375299.3:c.271C>T	13.37:g.115047559C>T						UPF3A_ENST00000351487.5_Silent_p.L91L	p.L91L	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)	2	327	+	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	91			Required for interaction with UPF2.		A2A366|Q5T8C3|Q5T8C9|Q7Z6N3|Q86YK1|Q9BZI8	Silent	SNP	ENST00000375299.3	37	c.271C>T	CCDS9543.1																																																																																				0.731	UPF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045968.2			4	2	0	0	0	1	0	4	2				
SLAMF7	57823	broad.mit.edu	37	1	160719820	160719820	+	Missense_Mutation	SNP	G	G	A	rs201990333	byFrequency	TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr1:160719820G>A	ENST00000368043.3	+	3	623	c.586G>A	c.(586-588)Gtt>Att	p.V196I	SLAMF7_ENST00000444090.2_Intron|SLAMF7_ENST00000441662.2_Intron|SLAMF7_ENST00000458104.2_Missense_Mutation_p.V89I|SLAMF7_ENST00000359331.4_Missense_Mutation_p.V196I|SLAMF7_ENST00000368042.3_Missense_Mutation_p.V89I|SLAMF7_ENST00000458602.2_Missense_Mutation_p.V89I	NM_001282595.1|NM_021181.3	NP_001269524.1|NP_067004.3	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	196	Ig-like C2-type.				cell adhesion (GO:0007155)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of natural killer cell activation (GO:0032814)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CTTCATCTGCGTTGCCAGGAA	0.567													G|||	10	0.00199681	0.0	0.0	5008	,	,		20643	0.0		0.0	False		,,,				2504	0.0102					ENST00000368043.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24						c.(586-588)Gtt>Att		SLAM family member 7		G	ILE/VAL	0,4406		0,0,2203	95.0	98.0	97.0		586	-5.1	0.0	1		97	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLAMF7	NM_021181.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	196/336	160719820	1,13005	2203	4300	6503	SO:0001583	missense	57823				cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity	g.chr1:160719820G>A	AB027233	CCDS1209.1, CCDS60321.1, CCDS60322.1, CCDS60323.1, CCDS60324.1, CCDS60325.1, CCDS72956.1, CCDS72957.1	1q23.1-q24.1	2013-01-11			ENSG00000026751	ENSG00000026751		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	21394	protein-coding gene	gene with protein product		606625				11802771, 11220635	Standard	XM_005245386		Approved	CRACC, 19A, CS1, CD319	uc001fwq.3	Q9NQ25	OTTHUMG00000024008	ENST00000368043.3:c.586G>A	1.37:g.160719820G>A	ENSP00000357022:p.Val196Ile					SLAMF7_ENST00000359331.4_Missense_Mutation_p.V196I|SLAMF7_ENST00000458104.2_Missense_Mutation_p.V89I|SLAMF7_ENST00000441662.2_Intron|SLAMF7_ENST00000368042.3_Missense_Mutation_p.V89I|SLAMF7_ENST00000444090.2_Intron|SLAMF7_ENST00000458602.2_Missense_Mutation_p.V89I	p.V196I	NM_021181.3	NP_067004.3	Q9NQ25	SLAF7_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		3	623	+	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		196			Ig-like C2-type.		A8K3U1|B4DPU4|B4DPY3|B4DWA3|Q8N6Y8|Q8ND32|Q9NY08|Q9NY23	Missense_Mutation	SNP	ENST00000368043.3	37	c.586G>A	CCDS1209.1	.	.	.	.	.	.	.	.	.	.	G	0.156	-1.086612	0.01873	0.0	1.16E-4	ENSG00000026751	ENST00000368043;ENST00000368042;ENST00000458602;ENST00000458104;ENST00000359331	T;T;T;T;T	0.38077	3.88;1.16;1.16;1.16;3.88	5.16	-5.12	0.02893	Immunoglobulin-like (1);	2.127990	0.01493	N	0.017163	T	0.04543	0.0124	N	0.04508	-0.205	0.09310	N	1	B;B;B;B;B;B	0.21753	0.048;0.005;0.04;0.013;0.06;0.043	B;B;B;B;B;B	0.14578	0.004;0.003;0.005;0.002;0.011;0.011	T	0.11299	-1.0593	10	0.19590	T	0.45	2.0319	6.7786	0.23634	0.6465:0.0:0.233:0.1205	.	89;89;89;89;196;196	B4DVL7;B4DWA3;B4DW98;Q9NQ25-2;A8K3U1;Q9NQ25	.;.;.;.;.;SLAF7_HUMAN	I	196;89;89;89;196	ENSP00000357022:V196I;ENSP00000357021:V89I;ENSP00000409965:V89I;ENSP00000403294:V89I;ENSP00000352281:V196I	ENSP00000352281:V196I	V	+	1	0	SLAMF7	158986444	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.426000	0.07008	-0.685000	0.05177	-1.107000	0.02091	GTT		0.567	SLAMF7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060464.1	NM_021181		10	72	0	0	0	1	0	10	72				
ABCA13	154664	broad.mit.edu	37	7	48506570	48506570	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr7:48506570T>C	ENST00000435803.1	+	44	12857	c.12833T>C	c.(12832-12834)tTg>tCg	p.L4278S	ABCA13_ENST00000544596.1_Intron	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4278					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GGCGACAACTTGGACCTCACC	0.498																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(12832-12834)tTg>tCg		ATP-binding cassette, sub-family A (ABC1), member 13							110.0	119.0	116.0					7																	48506570		2062	4209	6271	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48506570T>C	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.12833T>C	7.37:g.48506570T>C	ENSP00000411096:p.Leu4278Ser					ABCA13_ENST00000544596.1_Intron	p.L4278S	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			44	12857	+			4278					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.12833T>C	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	T	7.475	0.647404	0.14516	.	.	ENSG00000179869	ENST00000435803	D	0.84873	-1.91	5.29	-8.91	0.00778	.	2.712610	0.01344	N	0.011665	T	0.63522	0.2518	N	0.16790	0.44	0.09310	N	1	B;B	0.32467	0.372;0.063	B;B	0.24394	0.053;0.026	T	0.59478	-0.7447	10	0.15066	T	0.55	.	2.7407	0.05252	0.3292:0.3958:0.1115:0.1635	.	1980;4278	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	S	4278	ENSP00000411096:L4278S	ENSP00000411096:L4278S	L	+	2	0	ABCA13	48477116	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-1.801000	0.01743	-1.157000	0.02815	-0.256000	0.11100	TTG		0.498	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		4	84	0	0	0	1	0	4	84				
DRAM2	128338	broad.mit.edu	37	1	111674063	111674063	+	Silent	SNP	C	C	T			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr1:111674063C>T	ENST00000286692.4	-	3	731	c.114G>A	c.(112-114)ccG>ccA	p.P38P	DRAM2_ENST00000539140.1_Silent_p.P38P|DRAM2_ENST00000484310.1_5'UTR			Q6UX65	DRAM2_HUMAN	DNA-damage regulated autophagy modulator 2	38					apoptotic process (GO:0006915)|regulation of autophagy (GO:0010506)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|microtubule cytoskeleton (GO:0015630)				endometrium(1)|large_intestine(5)|lung(3)	9						AAGGTAAAGCCGGGTCTATAT	0.368																																						ENST00000286692.4																			0				endometrium(1)|large_intestine(5)|lung(3)	9						c.(112-114)ccG>ccA		DNA-damage regulated autophagy modulator 2							116.0	115.0	115.0					1																	111674063		2203	4300	6503	SO:0001819	synonymous_variant	128338				apoptosis|induction of apoptosis	Golgi apparatus|integral to membrane|lysosomal membrane		g.chr1:111674063C>T	AY336747	CCDS30801.1	1p13.3	2010-07-08	2009-06-12	2009-06-12	ENSG00000156171	ENSG00000156171			28769	protein-coding gene	gene with protein product		613360	"""transmembrane protein 77"""	TMEM77		12975309	Standard	NM_178454		Approved	MGC54289, PRO180, WWFQ154, RP5-1180E21.1	uc001ead.4	Q6UX65	OTTHUMG00000011911	ENST00000286692.4:c.114G>A	1.37:g.111674063C>T						DRAM2_ENST00000539140.1_Silent_p.P38P|DRAM2_ENST00000484310.1_5'UTR	p.P38P			Q6UX65	DRAM2_HUMAN			3	731	-			38					B3SUG9|Q4VWF6|Q86VD3|Q8NBQ4	Silent	SNP	ENST00000286692.4	37	c.114G>A	CCDS30801.1																																																																																				0.368	DRAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032930.3	NM_178454		27	84	0	0	0	1	0	27	84				
NEBL	10529	broad.mit.edu	37	10	21120204	21120204	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr10:21120204A>C	ENST00000377122.4	-	16	1988	c.1592T>G	c.(1591-1593)aTt>aGt	p.I531S	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	531					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TTTCCCTTTAATTTCATTTTC	0.353																																						ENST00000377122.4																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(1591-1593)aTt>aGt		nebulette							159.0	142.0	148.0					10																	21120204		2203	4300	6503	SO:0001583	missense	10529				regulation of actin filament length		actin binding|structural constituent of muscle	g.chr10:21120204A>C	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.1592T>G	10.37:g.21120204A>C	ENSP00000366326:p.Ile531Ser					NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	p.I531S	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN			16	1988	-			531					B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	ENST00000377122.4	37	c.1592T>G	CCDS7134.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.302820	0.81136	.	.	ENSG00000078114	ENST00000377122	T	0.48201	0.82	5.78	5.78	0.91487	.	0.204679	0.44483	D	0.000443	T	0.52709	0.1751	M	0.73217	2.22	0.80722	D	1	B	0.28400	0.21	B	0.34346	0.18	T	0.50923	-0.8770	10	0.37606	T	0.19	.	16.0666	0.80887	1.0:0.0:0.0:0.0	.	531	O76041	NEBL_HUMAN	S	531	ENSP00000366326:I531S	ENSP00000366326:I531S	I	-	2	0	NEBL	21160210	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.023000	0.76437	2.333000	0.79357	0.482000	0.46254	ATT		0.353	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393		7	68	0	0	0	1	0	7	68				
GCSAML	148823	broad.mit.edu	37	1	247712478	247712478	+	5'UTR	SNP	G	G	A			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr1:247712478G>A	ENST00000366488.4	+	0	89				GCSAML_ENST00000366489.1_5'UTR|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366490.3_Missense_Mutation_p.R116Q|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000536561.1_5'UTR|GCSAML_ENST00000366491.2_5'UTR	NM_001281836.1|NM_001281837.1|NM_001281853.1|NM_145278.3	NP_001268765.1|NP_001268766.1|NP_001268782.1|NP_660321.1	Q5JQS6	GSAML_HUMAN	germinal center-associated, signaling and motility-like																		CTGAGAAACCGAGTCACTGTG	0.488																																						ENST00000366490.3																			0											c.(346-348)cGa>cAa		germinal center-associated, signaling and motility-like							91.0	85.0	87.0					1																	247712478		2203	4300	6503	SO:0001623	5_prime_UTR_variant	148823							g.chr1:247712478G>A	AK126682	CCDS1635.1, CCDS60470.1, CCDS73058.1	1q44	2012-08-23	2012-08-23	2012-08-23	ENSG00000169224	ENSG00000169224			29583	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 150"""	C1orf150			Standard	NM_001281834		Approved	FLJ44728	uc001idf.3	Q5JQS6	OTTHUMG00000040648	ENST00000366488.4:c.-16G>A	1.37:g.247712478G>A						GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366491.2_5'UTR|GCSAML_ENST00000366488.4_5'UTR|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000536561.1_5'UTR|GCSAML_ENST00000366489.1_5'UTR|GCSAML_ENST00000527084.1_Intron	p.R116Q							4	505	+								B2R4Y5|B3KX46|Q5JQT3	Missense_Mutation	SNP	ENST00000366488.4	37	c.347G>A	CCDS1635.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.447451	0.43429	.	.	ENSG00000169224	ENST00000366490	.	.	.	3.25	2.33	0.28932	.	.	.	.	.	T	0.41096	0.1144	.	.	.	0.19300	N	0.999974	.	.	.	.	.	.	T	0.34925	-0.9809	5	0.87932	D	0	.	6.7207	0.23328	0.1313:0.0:0.8687:0.0	.	.	.	.	Q	116	.	ENSP00000355446:R116Q	R	+	2	0	C1orf150	245779101	0.001000	0.12720	0.001000	0.08648	0.660000	0.38997	0.973000	0.29422	0.938000	0.37419	0.467000	0.42956	CGA		0.488	GCSAML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097745.4	NM_145278		5	50	0	0	0	1	0	5	50				
ZEB2	9839	broad.mit.edu	37	2	145147217	145147217	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr2:145147217C>G	ENST00000558170.2	-	10	4630	c.3446G>C	c.(3445-3447)gGg>gCg	p.G1149A	ZEB2_ENST00000303660.4_Missense_Mutation_p.G1149A|ZEB2_ENST00000539609.3_Missense_Mutation_p.G1125A|ZEB2_ENST00000409487.3_Missense_Mutation_p.G1149A	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1149	Glu-rich (acidic).				cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GCCCAGCTTCCCGTAGCCATC	0.537																																					Melanoma(33;1235 1264 5755 16332)	ENST00000558170.2																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107						c.(3445-3447)gGg>gCg		zinc finger E-box binding homeobox 2							213.0	184.0	194.0					2																	145147217		2203	4300	6503	SO:0001583	missense	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145147217C>G	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.3446G>C	2.37:g.145147217C>G	ENSP00000454157:p.Gly1149Ala					ZEB2_ENST00000539609.3_Missense_Mutation_p.G1125A|ZEB2_ENST00000409487.3_Missense_Mutation_p.G1149A|ZEB2_ENST00000303660.4_Missense_Mutation_p.G1149A	p.G1149A	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	10	4630	-			1149			Glu-rich (acidic).		A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	c.3446G>C	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	C	6.677	0.493427	0.12702	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487	T;T;T	0.13089	2.64;2.62;2.62	5.51	-0.43	0.12299	.	0.438343	0.26442	N	0.024356	T	0.04679	0.0127	N	0.08118	0	0.25499	N	0.987573	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.42932	-0.9422	10	0.09590	T	0.72	0.1261	6.1662	0.20392	0.0:0.5093:0.1577:0.333	.	1125;1148;1149	F5H814;A0JP08;O60315	.;.;ZEB2_HUMAN	A	1125;1149;1149	ENSP00000443792:G1125A;ENSP00000302501:G1149A;ENSP00000386854:G1149A	ENSP00000302501:G1149A	G	-	2	0	ZEB2	144863687	0.828000	0.29307	0.604000	0.28916	0.962000	0.63368	0.660000	0.25009	-0.018000	0.14079	0.591000	0.81541	GGG		0.537	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		12	109	0	0	0	1	0	12	109				
LRP3	4037	broad.mit.edu	37	19	33687643	33687643	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr19:33687643C>G	ENST00000253193.7	+	2	283	c.81C>G	c.(79-81)atC>atG	p.I27M		NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	27					receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					CAGTGAACATCTTTCTCACCG	0.552																																						ENST00000253193.7																			0				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15						c.(79-81)atC>atG		low density lipoprotein receptor-related protein 3							188.0	155.0	167.0					19																	33687643		2203	4300	6503	SO:0001583	missense	4037				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity	g.chr19:33687643C>G	AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"""Low density lipoprotein receptors"""	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.81C>G	19.37:g.33687643C>G	ENSP00000253193:p.Ile27Met					LRP3_ENST00000592484.1_3'UTR	p.I27M	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN			2	283	+	Esophageal squamous(110;0.137)		27					B3KQD6|B4DKF2	Missense_Mutation	SNP	ENST00000253193.7	37	c.81C>G	CCDS12430.1	.	.	.	.	.	.	.	.	.	.	C	11.58	1.681123	0.29872	.	.	ENSG00000130881	ENST00000253193	D	0.86694	-2.16	4.74	2.61	0.31194	.	0.468088	0.17767	N	0.162716	T	0.72455	0.3462	N	0.08118	0	0.80722	D	1	B	0.19935	0.04	B	0.18871	0.023	T	0.64626	-0.6363	10	0.72032	D	0.01	-12.089	7.2124	0.25941	0.0:0.7928:0.0:0.2072	.	27	O75074	LRP3_HUMAN	M	27	ENSP00000253193:I27M	ENSP00000253193:I27M	I	+	3	3	LRP3	38379483	1.000000	0.71417	0.997000	0.53966	0.857000	0.48899	1.430000	0.34914	0.434000	0.26340	0.561000	0.74099	ATC		0.552	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4			9	47	0	0	0	1	0	9	47				
ACAN	176	broad.mit.edu	37	15	89392715	89392715	+	Silent	SNP	A	A	G			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr15:89392715A>G	ENST00000561243.1	+	9	1779	c.1779A>G	c.(1777-1779)gaA>gaG	p.E593E	ACAN_ENST00000559004.1_Silent_p.E593E|ACAN_ENST00000558207.1_Silent_p.E593E|ACAN_ENST00000439576.2_Silent_p.E593E|ACAN_ENST00000352105.7_Silent_p.E593E			P16112	PGCA_HUMAN	aggrecan	593	G2-B'.|Link 4. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCTTCCAGGAAGCACTGGAGT	0.632																																						ENST00000439576.2																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(1777-1779)gaA>gaG		aggrecan							19.0	21.0	20.0					15																	89392715		2060	4192	6252	SO:0001819	synonymous_variant	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89392715A>G	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.1779A>G	15.37:g.89392715A>G						ACAN_ENST00000558207.1_Silent_p.E593E|ACAN_ENST00000561243.1_Silent_p.E593E|ACAN_ENST00000559004.1_Silent_p.E593E|ACAN_ENST00000352105.7_Silent_p.E593E	p.E593E	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		10	2153	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		593					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Silent	SNP	ENST00000561243.1	37	c.1779A>G	CCDS53970.1																																																																																				0.632	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		4	10	0	0	0	1	0	4	10				
ZBED9	114821	broad.mit.edu	37	6	28540057	28540057	+	Silent	SNP	A	A	G			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr6:28540057A>G	ENST00000452236.2	-	4	4226	c.3609T>C	c.(3607-3609)aaT>aaC	p.N1203N		NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ggatccacaaatttcctatgc	0.323																																						ENST00000452236.2																			0				NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						c.(3607-3609)aaT>aaC		SCAN domain containing 3							28.0	27.0	27.0					6																	28540057		2202	4296	6498	SO:0001819	synonymous_variant	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28540057A>G																												ENST00000452236.2:c.3609T>C	6.37:g.28540057A>G							p.N1203N	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN			4	4226	-			1203						Silent	SNP	ENST00000452236.2	37	c.3609T>C	CCDS34355.1																																																																																				0.323	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			3	14	0	0	0	1	0	3	14				
OR14J1	442191	broad.mit.edu	37	6	29274971	29274971	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr6:29274971A>G	ENST00000377160.2	+	1	569	c.505A>G	c.(505-507)Aag>Gag	p.K169E		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	169						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						TCTCTGTGGGAAGAGAGTCAT	0.483																																						ENST00000377160.2																			0				endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						c.(505-507)Aag>Gag		olfactory receptor, family 14, subfamily J, member 1							169.0	170.0	169.0					6																	29274971		1510	2709	4219	SO:0001583	missense	442191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29274971A>G		CCDS34362.1	6p21.3	2012-08-09	2008-04-02	2008-04-02	ENSG00000204695	ENSG00000204695		"""GPCR / Class A : Olfactory receptors"""	13971	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily U, member 1"""	OR5U1			Standard	NM_030946		Approved	hs6M1-28	uc011dln.2	Q9UGF5	OTTHUMG00000031184	ENST00000377160.2:c.505A>G	6.37:g.29274971A>G	ENSP00000366365:p.Lys169Glu						p.K169E	NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN			1	569	+			169					A2BEC2|B0V078|Q5ST27	Missense_Mutation	SNP	ENST00000377160.2	37	c.505A>G	CCDS34362.1	.	.	.	.	.	.	.	.	.	.	A	14.37	2.514158	0.44763	.	.	ENSG00000204695	ENST00000377160	T	0.36157	1.27	4.8	-0.65	0.11457	GPCR, rhodopsin-like superfamily (1);	0.738150	0.11565	N	0.551342	T	0.03390	0.0098	N	0.02916	-0.46	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.39921	-0.9590	10	0.27082	T	0.32	.	1.1496	0.01783	0.3761:0.2656:0.2227:0.1355	.	169	Q9UGF5	O14J1_HUMAN	E	169	ENSP00000366365:K169E	ENSP00000366365:K169E	K	+	1	0	OR14J1	29382950	0.000000	0.05858	0.000000	0.03702	0.966000	0.64601	-0.088000	0.11198	0.031000	0.15407	-0.237000	0.12165	AAG		0.483	OR14J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076362.2			12	75	0	0	0	1	0	12	75				
ITGB4	3691	broad.mit.edu	37	17	73738764	73738764	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr17:73738764G>T	ENST00000200181.3	+	25	3071	c.2884G>T	c.(2884-2886)Gtg>Ttg	p.V962L	ITGB4_ENST00000450894.3_Missense_Mutation_p.V962L|ITGB4_ENST00000449880.2_Missense_Mutation_p.V962L|ITGB4_ENST00000339591.3_Missense_Mutation_p.V962L|ITGB4_ENST00000579662.1_Missense_Mutation_p.V962L	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	962					amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCAGCTGCTGGTGGAGGCCAT	0.657																																						ENST00000200181.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43						c.(2884-2886)Gtg>Ttg		integrin, beta 4							77.0	58.0	65.0					17																	73738764		2203	4300	6503	SO:0001583	missense	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73738764G>T		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.2884G>T	17.37:g.73738764G>T	ENSP00000200181:p.Val962Leu					ITGB4_ENST00000579662.1_Missense_Mutation_p.V962L|ITGB4_ENST00000450894.3_Missense_Mutation_p.V962L|ITGB4_ENST00000449880.2_Missense_Mutation_p.V962L|ITGB4_ENST00000339591.3_Missense_Mutation_p.V962L	p.V962L	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		25	3071	+	all_cancers(13;1.5e-07)		962					A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	ENST00000200181.3	37	c.2884G>T	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.926400	0.52759	.	.	ENSG00000132470	ENST00000200181;ENST00000339591;ENST00000449880	T;T;T	0.74842	-0.88;-0.84;-0.84	5.52	5.52	0.82312	.	0.077032	0.51477	D	0.000087	T	0.66177	0.2763	N	0.19112	0.55	0.58432	D	0.99999	B;B;P	0.34662	0.257;0.167;0.462	B;B;B	0.36666	0.23;0.07;0.115	T	0.67852	-0.5563	10	0.52906	T	0.07	.	19.4284	0.94754	0.0:0.0:1.0:0.0	.	962;962;962	P16144-3;A0AVL6;P16144	.;.;ITB4_HUMAN	L	962	ENSP00000200181:V962L;ENSP00000344079:V962L;ENSP00000400217:V962L	ENSP00000200181:V962L	V	+	1	0	ITGB4	71250359	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.616000	0.74205	2.620000	0.88729	0.655000	0.94253	GTG		0.657	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			7	52	1	0	6.5536e-12	1	7.08497e-12	7	52				
SLC17A4	10050	broad.mit.edu	37	6	25770634	25770634	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr6:25770634A>C	ENST00000377905.4	+	5	673	c.554A>C	c.(553-555)tAt>tCt	p.Y185S	SLC17A4_ENST00000397076.2_Intron|SLC17A4_ENST00000439485.2_Intron	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	185					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ACTGGTCAGTATTCAATTTGG	0.438																																						ENST00000377905.4																			0				breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(553-555)tAt>tCt		solute carrier family 17, member 4							140.0	150.0	147.0					6																	25770634		2203	4300	6503	SO:0001583	missense	10050				phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	g.chr6:25770634A>C	AB020527	CCDS4564.1, CCDS75411.1	6p22.2	2013-07-18	2013-07-18		ENSG00000146039	ENSG00000146039		"""Solute carriers"""	10932	protein-coding gene	gene with protein product		604216	"""solute carrier family 17 (sodium phosphate), member 4"""			10319585	Standard	NM_005495		Approved	KIAA2138	uc003nfe.3	Q9Y2C5	OTTHUMG00000014410	ENST00000377905.4:c.554A>C	6.37:g.25770634A>C	ENSP00000367137:p.Tyr185Ser					SLC17A4_ENST00000439485.2_Intron|SLC17A4_ENST00000397076.2_Intron	p.Y185S	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN			5	673	+			185					B4DDV9|E7EPE8|E7EU17|Q32MB7|Q32MB8	Missense_Mutation	SNP	ENST00000377905.4	37	c.554A>C	CCDS4564.1	.	.	.	.	.	.	.	.	.	.	A	14.46	2.540912	0.45280	.	.	ENSG00000146039	ENST00000377905	T	0.57107	0.42	5.37	-0.97	0.10306	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.234140	0.05760	N	0.604806	T	0.26557	0.0649	L	0.55213	1.73	0.09310	N	0.999996	B	0.34290	0.447	B	0.36335	0.222	T	0.36939	-0.9727	10	0.51188	T	0.08	.	4.9046	0.13791	0.3625:0.2132:0.0:0.4243	.	185	Q9Y2C5	S17A4_HUMAN	S	185	ENSP00000367137:Y185S	ENSP00000367137:Y185S	Y	+	2	0	SLC17A4	25878613	0.001000	0.12720	0.001000	0.08648	0.685000	0.39939	0.600000	0.24104	0.048000	0.15891	-0.490000	0.04691	TAT		0.438	SLC17A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040068.1			9	104	0	0	0	1	0	9	104				
MGAM	8972	broad.mit.edu	37	7	141767161	141767161	+	Intron	SNP	C	C	T			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr7:141767161C>T	ENST00000549489.2	+	38	4713				MGAM_ENST00000475668.2_Missense_Mutation_p.T1647I	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)						carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GACCAGGTGACATGGGACATA	0.582																																						ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(4939-4941)aCa>aTa		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						35.0	28.0	30.0					7																	141767161		874	1933	2807	SO:0001627	intron_variant	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141767161C>T	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.4618+1893C>T	7.37:g.141767161C>T						MGAM_ENST00000549489.2_Intron	p.T1647I			O43451	MGA_HUMAN			42	4994	+	Melanoma(164;0.0272)		1647			Glucoamylase.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.4940C>T	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.940830	0.52972	.	.	ENSG00000257335	ENST00000475668;ENST00000548812	.	.	.	3.98	3.98	0.46160	.	.	.	.	.	T	0.74658	0.3745	.	.	.	0.44976	D	0.99799	.	.	.	.	.	.	T	0.79581	-0.1744	5	0.87932	D	0	.	14.8937	0.70627	0.0:1.0:0.0:0.0	.	.	.	.	I	1647;1524	.	ENSP00000316431:T1524I	T	+	2	0	MGAM	141413630	1.000000	0.71417	0.949000	0.38748	0.712000	0.41017	7.529000	0.81952	1.756000	0.51951	0.306000	0.20318	ACA		0.582	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			9	26	0	0	0	1	0	9	26				
AXL	558	broad.mit.edu	37	19	41727878	41727878	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr19:41727878C>T	ENST00000301178.4	+	4	693	c.503C>T	c.(502-504)cCc>cTc	p.P168L	CTD-2195B23.3_ENST00000598541.1_RNA|AXL_ENST00000359092.3_Missense_Mutation_p.P168L|AXL_ENST00000594880.1_3'UTR	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	168	Ig-like C2-type 2.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						CCCCCAGAGCCCGTGGACCTA	0.662																																						ENST00000301178.4																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						c.(502-504)cCc>cTc		AXL receptor tyrosine kinase							22.0	22.0	22.0					19																	41727878		2203	4300	6503	SO:0001583	missense	558					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr19:41727878C>T	M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.503C>T	19.37:g.41727878C>T	ENSP00000301178:p.Pro168Leu					CTD-2195B23.3_ENST00000598541.1_RNA|AXL_ENST00000594880.1_3'UTR|AXL_ENST00000359092.3_Missense_Mutation_p.P168L	p.P168L	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN			4	693	+			168			Ig-like C2-type 2.		Q8N5L2|Q9UD27	Missense_Mutation	SNP	ENST00000301178.4	37	c.503C>T	CCDS12575.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.337018	0.81801	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	D;D	0.86230	-2.09;-2.0	3.86	3.86	0.44501	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	D	0.94827	0.8329	M	0.93507	3.425	0.53688	D	0.999971	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96161	0.9115	10	0.87932	D	0	-14.8833	14.7876	0.69816	0.0:1.0:0.0:0.0	.	168;168	P30530-2;P30530	.;UFO_HUMAN	L	168	ENSP00000301178:P168L;ENSP00000351995:P168L	ENSP00000301178:P168L	P	+	2	0	AXL	46419718	1.000000	0.71417	0.997000	0.53966	0.939000	0.58152	5.579000	0.67457	2.002000	0.58637	0.298000	0.19748	CCC		0.662	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2			3	6	0	0	0	1	0	3	6				
C2	717	broad.mit.edu	37	6	31901509	31901509	+	Missense_Mutation	SNP	C	C	T	rs199946097		TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr6:31901509C>T	ENST00000299367.5	+	4	841	c.565C>T	c.(565-567)Cgg>Tgg	p.R189W	CFB_ENST00000477310.1_Intron|CFB_ENST00000556679.1_Missense_Mutation_p.R127W|C2_ENST00000469372.1_Silent_p.S20S|CFB_ENST00000456570.1_Missense_Mutation_p.R127W|C2_ENST00000452323.2_Missense_Mutation_p.R66W|C2_ENST00000418949.2_Missense_Mutation_p.R189W|C2_ENST00000442278.2_Missense_Mutation_p.R57W	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	189	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		GTCTTCGGAGCGGGAGTGCCA	0.642																																						ENST00000456570.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						c.(379-381)Cgg>Tgg		complement factor B							70.0	62.0	65.0					6																	31901509		1511	2709	4220	SO:0001583	missense	629				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	g.chr6:31901509C>T		CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"""Complement system"""	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.565C>T	6.37:g.31901509C>T	ENSP00000299367:p.Arg189Trp					C2_ENST00000418949.2_Missense_Mutation_p.R189W|CFB_ENST00000477310.1_Intron|C2_ENST00000299367.5_Missense_Mutation_p.R189W|C2_ENST00000442278.2_Missense_Mutation_p.R57W|CFB_ENST00000556679.1_Missense_Mutation_p.R127W|C2_ENST00000452323.2_Missense_Mutation_p.R66W|C2_ENST00000469372.1_Silent_p.S20S	p.R127W			P00751	CFAB_HUMAN			3	434	+			203			Sushi 2.		B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Missense_Mutation	SNP	ENST00000299367.5	37	c.379C>T	CCDS4728.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.789381	0.49997	.	.	ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000243649;ENSG00000244255	ENST00000452323;ENST00000452202;ENST00000299367;ENST00000442278;ENST00000447952;ENST00000418949;ENST00000494905;ENST00000556679;ENST00000456570	T;T;T;T;T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18	5.49	2.56	0.30785	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.33813	N	0.004528	T	0.81903	0.4921	H	0.98951	4.38	0.32486	N	0.540893	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;1.0;0.999;0.999;1.0;1.0;1.0	D	0.84050	0.0369	10	0.87932	D	0	-23.8828	11.2508	0.49024	0.4835:0.5165:0.0:0.0	.	127;160;66;57;57;189;189	B4E1Z4;B4DV48;B4DPF3;E9PFN7;B4DV20;P06681;Q8N6L6	.;.;.;.;.;CO2_HUMAN;.	W	66;66;189;57;127;189;48;127;127	ENSP00000392322:R66W;ENSP00000406121:R66W;ENSP00000299367:R189W;ENSP00000395683:R57W;ENSP00000391354:R127W;ENSP00000406190:R189W;ENSP00000419048:R48W;ENSP00000451848:R127W;ENSP00000410815:R127W	ENSP00000299367:R189W	R	+	1	2	CFB;C2;XXbac-BPG116M5.17	32009488	0.998000	0.40836	0.465000	0.27155	0.204000	0.24138	0.241000	0.18065	0.218000	0.20820	0.558000	0.71614	CGG		0.642	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076379.9			6	45	0	0	0	1	0	6	45				
ACTBL2	345651	broad.mit.edu	37	5	56777528	56777528	+	Missense_Mutation	SNP	C	C	T	rs372738418		TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr5:56777528C>T	ENST00000423391.1	-	1	1108	c.1007G>A	c.(1006-1008)cGg>cAg	p.R336Q	AC025470.1_ENST00000584598.1_RNA|CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	336						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		AGAATACTTCCGCTCTGGGGG	0.517																																						ENST00000423391.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28						c.(1006-1008)cGg>cAg		actin, beta-like 2		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	88.0	88.0	88.0		1007	5.0	1.0	5		88	0,8600		0,0,4300	no	missense	ACTBL2	NM_001017992.2	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	336/377	56777528	1,13005	2203	4300	6503	SO:0001583	missense	345651					cytoplasm|cytoskeleton	ATP binding	g.chr5:56777528C>T		CCDS34163.1	5q11.2	2014-08-08			ENSG00000169067	ENSG00000169067			17780	protein-coding gene	gene with protein product		614835					Standard	NM_001017992		Approved	DKFZp686D0972	uc003jrm.3	Q562R1	OTTHUMG00000162330	ENST00000423391.1:c.1007G>A	5.37:g.56777528C>T	ENSP00000416706:p.Arg336Gln					CTD-2023N9.1_ENST00000506106.1_RNA	p.R336Q	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)	1	1108	-		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)	336					B2RPJ1|Q562R2|Q562S9|Q562X8	Missense_Mutation	SNP	ENST00000423391.1	37	c.1007G>A	CCDS34163.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.151005	0.57151	2.27E-4	0.0	ENSG00000169067	ENST00000423391	T	0.09350	2.99	4.98	4.98	0.66077	.	0.000000	0.64402	D	0.000012	T	0.43678	0.1258	H	0.94582	3.555	0.49051	D	0.999746	D	0.67145	0.996	D	0.68039	0.955	T	0.58747	-0.7582	10	0.87932	D	0	.	15.7925	0.78376	0.0:1.0:0.0:0.0	.	336	Q562R1	ACTBL_HUMAN	Q	336	ENSP00000416706:R336Q	ENSP00000416706:R336Q	R	-	2	0	ACTBL2	56813285	1.000000	0.71417	0.995000	0.50966	0.763000	0.43281	7.597000	0.82733	2.591000	0.87537	0.655000	0.94253	CGG		0.517	ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368579.1	NM_001017992		5	57	0	0	0	1	0	5	57				
SYN2	6854	broad.mit.edu	37	3	12046124	12046126	+	RNA	DEL	AGC	AGC	-	rs76272937|rs74800608|rs375843790|rs74185804|rs202010288	byFrequency	TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr3:12046124_12046126delAGC	ENST00000432424.2	+	0	245_247							Q92777	SYN2_HUMAN	synapsin II						neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGCCCCAGCAAGCGCCGAcgccg	0.764														5004	0.999201	0.9992	1.0	5008	,	,		2724	1.0		0.999	False		,,,				2504	0.998					ENST00000432424.2																			0				breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18								synapsin II																																						6854				neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity	g.chr3:12046124_12046126delAGC		CCDS74900.1, CCDS74901.1	3p25.2	2013-09-20			ENSG00000157152	ENSG00000157152			11495	protein-coding gene	gene with protein product		600755				8530057	Standard	XM_006713311		Approved	SYNII, SYNIIa, SYNIIb	uc003bwm.3	Q92777	OTTHUMG00000155335		3.37:g.12046124_12046126delAGC										Q86VA8	Q86VA8_HUMAN			0	245_247	+								A8MY98	RNA	DEL	ENST00000432424.2	37																																																																																						0.764	SYN2-002	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000339528.3	NM_133625		3	6						3	6	---	---	---	---
SLC15A3	51296	broad.mit.edu	37	11	60714213	60714214	+	Frame_Shift_Ins	INS	-	-	GACA	rs149019885|rs377073448		TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr11:60714213_60714214insGACA	ENST00000227880.3	-	2	871_872	c.638_639insTGTC	c.(637-639)tcgfs	p.-213fs		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3						ion transport (GO:0006811)|peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	symporter activity (GO:0015293)			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						CCACCAGCAGCGACAGCACAGC	0.569																																						ENST00000227880.3																			0				central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						c.(637-639)tctfs		solute carrier family 15 (oligopeptide transporter), member 3																																				SO:0001589	frameshift_variant	51296				oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity	g.chr11:60714213_60714214insGACA	AB020598	CCDS7998.1	11q12.2	2013-07-18	2013-07-18		ENSG00000110446	ENSG00000110446		"""Solute carriers"""	18068	protein-coding gene	gene with protein product		610408	"""solute carrier family 15, member 3"""			11336635, 11741232	Standard	NM_016582		Approved	PHT2, hPTR3	uc001nqn.2	Q8IY34	OTTHUMG00000167804	ENST00000227880.3:c.635_638dupTGTC	11.37:g.60714214_60714217dupGACA	ENSP00000227880:p.Ser213fs						p.-212fs	NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN			2	871_872	-								Q9P2X9	Frame_Shift_Ins	INS	ENST00000227880.3	37	c.638_639insTGTC	CCDS7998.1																																																																																				0.569	SLC15A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396366.1	NM_016582		9	165						9	165	---	---	---	---
INTS6	26512	broad.mit.edu	37	13	51953635	51953638	+	Frame_Shift_Del	DEL	TAAC	TAAC	-			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr13:51953635_51953638delTAAC	ENST00000311234.4	-	11	1818_1821	c.1346_1349delGTTA	c.(1345-1350)agttacfs	p.SY449fs	INTS6_ENST00000425000.1_Frame_Shift_Del_p.SY17fs|INTS6_ENST00000463928.1_Intron|INTS6_ENST00000398119.2_Frame_Shift_Del_p.SY436fs|INTS6_ENST00000490542.1_Frame_Shift_Del_p.SY133fs|INTS6_ENST00000497989.1_Frame_Shift_Del_p.SY271fs	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	449					signal transduction (GO:0007165)|snRNA processing (GO:0016180)	actin cytoskeleton (GO:0015629)|integrator complex (GO:0032039)|nucleus (GO:0005634)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		AATGACACTGTAACTAAGTCCATA	0.353																																						ENST00000311234.4																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1345-1350)acfs		integrator complex subunit 6																																				SO:0001589	frameshift_variant	26512				snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity	g.chr13:51953635_51953638delTAAC	AF097645	CCDS9428.1, CCDS41890.1, CCDS45048.1	13q14.3	2010-08-20	2006-03-15	2006-03-15	ENSG00000102786	ENSG00000102786		"""DEAD-boxes"""	14879	protein-coding gene	gene with protein product		604331	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26"""	DDX26		10467397, 16239144	Standard	XM_005266340		Approved	DICE1, HDB, Notchl2, DBI-1, DDX26A, INT6	uc001vfk.3	Q9UL03	OTTHUMG00000016945	ENST00000311234.4:c.1346_1349delGTTA	13.37:g.51953635_51953638delTAAC	ENSP00000310260:p.Ser449fs					INTS6_ENST00000398119.2_Frame_Shift_Del_p.SY436fs|INTS6_ENST00000490542.1_Frame_Shift_Del_p.SY133fs|INTS6_ENST00000463928.1_Intron|INTS6_ENST00000425000.1_Frame_Shift_Del_p.SY17fs|INTS6_ENST00000497989.1_Frame_Shift_Del_p.SY271fs	p.SY449fs	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN		GBM - Glioblastoma multiforme(99;7.7e-08)	11	1818_1821	-		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)	449					Q0P664|Q6PJP4|Q9UFK0|Q9Y5M9	Frame_Shift_Del	DEL	ENST00000311234.4	37	c.1346_1349delGTTA	CCDS9428.1																																																																																				0.353	INTS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045023.1	NM_012141		8	114						8	114	---	---	---	---
