#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	7578457	7578457	+	Missense_Mutation	SNP	C	C	A	rs587782144		TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr17:7578457C>A	ENST00000269305.4	-	5	662	c.473G>T	c.(472-474)cGc>cTc	p.R158L	TP53_ENST00000445888.2_Missense_Mutation_p.R158L|TP53_ENST00000359597.4_Missense_Mutation_p.R158L|TP53_ENST00000420246.2_Missense_Mutation_p.R158L|TP53_ENST00000413465.2_Missense_Mutation_p.R158L|TP53_ENST00000455263.2_Missense_Mutation_p.R158L|TP53_ENST00000574684.1_5'Flank	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	158	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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.R158L(77)|p.R158H(74)|p.R158P(9)|p.R65L(8)|p.0?(8)|p.R26L(8)|p.R158fs(6)|p.R158fs*11(6)|p.R65H(5)|p.R26H(5)|p.R158_A159insX(4)|p.R65fs(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R26fs(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.R158C(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.R158fs*8(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)	GGCCATGGCGCGGACGCGGGT	0.627		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		244	Substitution - Missense(188)|Deletion - Frameshift(19)|Deletion - In frame(13)|Complex(10)|Whole gene deletion(8)|Insertion - In frame(4)|Complex - frameshift(2)	p.R158L(77)|p.R158H(74)|p.R158P(9)|p.R65L(8)|p.0?(8)|p.R26L(8)|p.R158fs(6)|p.R158fs*11(6)|p.R65H(5)|p.R26H(5)|p.R158_A159insX(4)|p.R65fs(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R26fs(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.R158C(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.R158fs*8(1)	lung(78)|central_nervous_system(33)|oesophagus(20)|haematopoietic_and_lymphoid_tissue(19)|large_intestine(18)|upper_aerodigestive_tract(12)|stomach(12)|urinary_tract(9)|prostate(7)|kidney(6)|liver(6)|breast(5)|bone(4)|soft_tissue(3)|ovary(3)|pancreas(3)|thyroid(2)|biliary_tract(2)|vulva(1)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM994513	TP53	M		c.(472-474)cGc>cTc	Other conserved DNA damage response genes	tumor protein p53							49.0	51.0	50.0					17																	7578457		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.chr17:7578457C>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.473G>T	17.37:g.7578457C>A	ENSP00000269305:p.Arg158Leu	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_ENST00000445888.2_Missense_Mutation_p.R158L|TP53_ENST00000359597.4_Missense_Mutation_p.R158L|TP53_ENST00000269305.4_Missense_Mutation_p.R158L|TP53_ENST00000413465.2_Missense_Mutation_p.R158L|TP53_ENST00000455263.2_Missense_Mutation_p.R158L	p.R158L	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)	5	605	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	158		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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.473G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	18.06	3.538284	0.65085	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99866	-7.3;-7.3;-7.3;-7.3;-7.3;-7.3;-7.3;-7.3;-7.3	5.59	4.63	0.57726	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.110116	0.64402	D	0.000010	D	0.99869	0.9938	M	0.92026	3.265	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;0.999;0.999;1.0	D;D;D;D;D;D;D	0.97110	0.998;0.988;0.981;0.996;0.99;0.986;1.0	D	0.96498	0.9369	10	0.87932	D	0	-10.4795	12.6491	0.56751	0.0:0.9196:0.0:0.0804	.	119;158;158;65;158;158;158	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	158;158;158;158;158;158;147;65;26;65;26;158	ENSP00000410739:R158L;ENSP00000352610:R158L;ENSP00000269305:R158L;ENSP00000398846:R158L;ENSP00000391127:R158L;ENSP00000391478:R158L;ENSP00000425104:R26L;ENSP00000423862:R65L;ENSP00000424104:R158L	ENSP00000269305:R158L	R	-	2	0	TP53	7519182	1.000000	0.71417	0.034000	0.17996	0.175000	0.22909	7.775000	0.85489	1.514000	0.48869	-0.140000	0.14226	CGC		0.627	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		28	49	1	0	8.88839e-20	1	1.02165e-19	28	49				
SOWAHD	347454	broad.mit.edu	37	X	118893114	118893114	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chrX:118893114G>A	ENST00000343905.3	+	1	539	c.484G>A	c.(484-486)Gag>Aag	p.E162K		NM_001105576.2	NP_001099046.1	A6NJG2	SWAHD_HUMAN	sosondowah ankyrin repeat domain family member D	162																	CGGGCGCCACGAGGAGCTCAT	0.716																																						ENST00000343905.3																			0											c.(484-486)Gag>Aag		sosondowah ankyrin repeat domain family member D							5.0	6.0	6.0					X																	118893114		1984	4025	6009	SO:0001583	missense	347454							g.chrX:118893114G>A		CCDS43984.1	Xq24	2013-01-10	2012-01-12	2012-01-12	ENSG00000187808	ENSG00000187808		"""Ankyrin repeat domain containing"""	32960	protein-coding gene	gene with protein product			"""ankyrin repeat domain 58"""	ANKRD58		22234889	Standard	NM_001105576		Approved		uc010nql.3	A6NJG2	OTTHUMG00000159606	ENST00000343905.3:c.484G>A	X.37:g.118893114G>A	ENSP00000340975:p.Glu162Lys						p.E162K	NM_001105576.2	NP_001099046.1	A6NJG2	ANR58_HUMAN			1	539	+			162						Missense_Mutation	SNP	ENST00000343905.3	37	c.484G>A	CCDS43984.1	.	.	.	.	.	.	.	.	.	.	G	30	5.055383	0.93793	.	.	ENSG00000187808	ENST00000343905	T	0.73681	-0.77	3.96	3.96	0.45880	Ankyrin repeat-containing domain (4);	.	.	.	.	D	0.82664	0.5086	L	0.61036	1.89	0.46631	D	0.999131	D	0.89917	1.0	D	0.91635	0.999	T	0.81348	-0.0973	9	0.31617	T	0.26	-18.9385	13.9198	0.63923	0.0:0.0:1.0:0.0	.	162	A6NJG2	ANR58_HUMAN	K	162	ENSP00000340975:E162K	ENSP00000340975:E162K	E	+	1	0	ANKRD58	118777142	1.000000	0.71417	1.000000	0.80357	0.639000	0.38242	9.173000	0.94815	1.823000	0.53134	0.183000	0.17082	GAG		0.716	SOWAHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356469.1	NM_001105576		3	7	0	0	0	1	0	3	7				
HBP1	26959	broad.mit.edu	37	7	106826320	106826320	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr7:106826320C>T	ENST00000222574.4	+	4	659	c.473C>T	c.(472-474)tCt>tTt	p.S158F	HBP1_ENST00000485846.1_Missense_Mutation_p.S158F|HBP1_ENST00000468410.1_Missense_Mutation_p.S158F	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	158	Poly-Ser.				cell cycle arrest (GO:0007050)|positive regulation of potassium ion transport (GO:0043268)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						GTGTCCTCTTCTTCGAAGAGT	0.413																																						ENST00000222574.4																			0				large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						c.(472-474)tCt>tTt		HMG-box transcription factor 1							161.0	143.0	149.0					7																	106826320		2203	4300	6503	SO:0001583	missense	26959				cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	DNA binding	g.chr7:106826320C>T	BC017069	CCDS5741.1	7q22-q31	2003-10-08			ENSG00000105856	ENSG00000105856			23200	protein-coding gene	gene with protein product						9030690, 11500377	Standard	NM_001244262		Approved		uc011klv.2	O60381	OTTHUMG00000157642	ENST00000222574.4:c.473C>T	7.37:g.106826320C>T	ENSP00000222574:p.Ser158Phe					HBP1_ENST00000485846.1_Missense_Mutation_p.S158F|HBP1_ENST00000468410.1_Missense_Mutation_p.S158F	p.S158F	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN			4	659	+			158			Poly-Ser.		B3KVB7|Q8TBM1|Q8TE93|Q96AJ2	Missense_Mutation	SNP	ENST00000222574.4	37	c.473C>T	CCDS5741.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.805640	0.70682	.	.	ENSG00000105856	ENST00000468410;ENST00000222574;ENST00000485846;ENST00000498408	D;D;D	0.99121	-5.45;-5.45;-5.45	6.17	5.29	0.74685	.	0.353762	0.34460	N	0.003942	D	0.96411	0.8829	N	0.08118	0	0.46849	D	0.999221	B;B;B	0.27791	0.119;0.189;0.119	B;B;B	0.35607	0.063;0.206;0.063	D	0.94467	0.7681	10	0.87932	D	0	-10.7064	15.01	0.71542	0.0:0.9327:0.0:0.0673	.	168;158;158	B4DJ36;O60381-3;O60381	.;.;HBP1_HUMAN	F	158;158;158;150	ENSP00000420500:S158F;ENSP00000222574:S158F;ENSP00000418738:S158F	ENSP00000222574:S158F	S	+	2	0	HBP1	106613556	1.000000	0.71417	0.984000	0.44739	0.990000	0.78478	3.602000	0.54066	2.941000	0.99782	0.655000	0.94253	TCT		0.413	HBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349297.1	NM_012257		11	104	0	0	0	1	0	11	104				
KIF23	9493	broad.mit.edu	37	15	69737350	69737350	+	Silent	SNP	C	C	T	rs35621443	byFrequency	TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr15:69737350C>T	ENST00000260363.4	+	19	2718	c.2601C>T	c.(2599-2601)tcC>tcT	p.S867S	KIF23_ENST00000537891.1_Silent_p.S580S|KIF23_ENST00000559279.1_Silent_p.S763S|KIF23_ENST00000558585.1_Silent_p.S580S|KIF23_ENST00000395392.2_Silent_p.S860S|KIF23_ENST00000352331.4_Silent_p.S763S	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	867	Interaction with ARF6.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle elongation (GO:0000022)|positive regulation of cytokinesis (GO:0032467)|spindle midzone assembly involved in mitosis (GO:0051256)	centralspindlin complex (GO:0097149)|centrosome (GO:0005813)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercellular bridge (GO:0045171)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						AACTAGCCTCCGATGGGGAGA	0.383													C|||	3	0.000599042	0.0	0.0014	5008	,	,		20011	0.0		0.001	False		,,,				2504	0.001					ENST00000260363.4																			0				central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						c.(2599-2601)tcC>tcT		kinesin family member 23		C	,	8,4390	14.3+/-33.2	0,8,2191	77.0	72.0	74.0		2289,2601	3.6	1.0	15	dbSNP_126	74	65,8531	40.3+/-97.0	1,63,4234	yes	coding-synonymous,coding-synonymous	KIF23	NM_004856.5,NM_138555.2	,	1,71,6425	TT,TC,CC		0.7562,0.1819,0.5618	,	763/857,867/961	69737350	73,12921	2199	4298	6497	SO:0001819	synonymous_variant	9493				blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding	g.chr15:69737350C>T	X67155	CCDS32278.1, CCDS32279.1	15q23	2008-03-03	2003-01-13	2003-01-17		ENSG00000137807		"""Kinesins"""	6392	protein-coding gene	gene with protein product		605064	"""kinesin-like 5 (mitotic kinesin-like protein 1)"""	KNSL5		1406973	Standard	NM_138555		Approved	MKLP1, MKLP-1	uc002asb.3	Q02241		ENST00000260363.4:c.2601C>T	15.37:g.69737350C>T						KIF23_ENST00000395392.2_Silent_p.S860S|KIF23_ENST00000558585.1_Silent_p.S580S|KIF23_ENST00000352331.4_Silent_p.S763S|KIF23_ENST00000559279.1_Silent_p.S763S|KIF23_ENST00000537891.1_Silent_p.S580S	p.S867S	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN			19	2718	+			867					Q8WVP0	Silent	SNP	ENST00000260363.4	37	c.2601C>T	CCDS32278.1																																																																																				0.383	KIF23-201	KNOWN	basic|CCDS	protein_coding	protein_coding				4	66	0	0	0	1	0	4	66				
PCDHA9	9752	broad.mit.edu	37	5	140229446	140229446	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr5:140229446G>A	ENST00000532602.1	+	1	2399	c.1366G>A	c.(1366-1368)Gcg>Acg	p.A456T	PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.A456T|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	456	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCAGCGTTCGCGCAGTCCGA	0.672																																					Melanoma(55;1800 1972 14909)	ENST00000378122.3																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59						c.(1366-1368)Gcg>Acg									88.0	81.0	83.0					5																	140229446		2196	4269	6465	SO:0001583	missense	9752							g.chr5:140229446G>A	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1366G>A	5.37:g.140229446G>A	ENSP00000436042:p.Ala456Thr					PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.A456T|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron	p.A456T	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2090	+								O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	c.1366G>A	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	G	9.296	1.051846	0.19827	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.59906	0.23;0.23	3.56	0.604	0.17547	Cadherin (3);Cadherin-like (1);	0.287183	0.17581	U	0.169114	T	0.24890	0.0604	N	0.01424	-0.875	0.09310	N	1	B;B	0.23806	0.091;0.03	B;B	0.15484	0.013;0.004	T	0.19844	-1.0293	10	0.56958	D	0.05	.	6.8421	0.23969	0.166:0.4097:0.4242:0.0	.	456;456	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	T	456	ENSP00000436042:A456T;ENSP00000367362:A456T	ENSP00000367362:A456T	A	+	1	0	PCDHA9	140209630	0.000000	0.05858	0.737000	0.30932	0.328000	0.28507	-1.152000	0.03172	-0.009000	0.14296	0.306000	0.20318	GCG		0.672	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		16	127	0	0	0	1	0	16	127				
PZP	5858	broad.mit.edu	37	12	9356398	9356398	+	Missense_Mutation	SNP	G	G	A	rs150991757	byFrequency	TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr12:9356398G>A	ENST00000261336.2	-	2	261	c.233C>T	c.(232-234)gCg>gTg	p.A78V	PZP_ENST00000381997.2_5'Flank	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	78					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GTCCTTCTCCGCCACCAGGTC	0.512													G|||	18	0.00359425	0.0113	0.0014	5008	,	,		-128	0.001		0.001	False		,,,				2504	0.0				Melanoma(125;1402 1695 4685 34487 38571)	ENST00000261336.2																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						c.(232-234)gCg>gTg		pregnancy-zone protein		G	VAL/ALA	34,4372	39.2+/-71.8	0,34,2169	107.0	93.0	98.0		233	-2.1	0.0	12	dbSNP_134	98	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PZP	NM_002864.2	64	0,35,6468	AA,AG,GG		0.0116,0.7717,0.2691	benign	78/1483	9356398	35,12971	2203	4300	6503	SO:0001583	missense	5858							g.chr12:9356398G>A	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.233C>T	12.37:g.9356398G>A	ENSP00000261336:p.Ala78Val						p.A78V	NM_002864.2	NP_002855.2					2	261	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	c.233C>T	CCDS8600.1	7	0.003205128205128205	5	0.01016260162601626	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	G	1.750	-0.489373	0.04352	0.007717	1.16E-4	ENSG00000126838	ENST00000261336	T	0.09350	2.99	2.08	-2.13	0.07144	.	2.564170	0.03124	U	0.164256	T	0.04497	0.0123	L	0.28400	0.85	0.09310	N	1	B	0.19935	0.04	B	0.15870	0.014	T	0.28808	-1.0032	10	0.12103	T	0.63	.	2.3303	0.04234	0.4706:0.0:0.2926:0.2368	.	78	P20742	PZP_HUMAN	V	78	ENSP00000261336:A78V	ENSP00000261336:A78V	A	-	2	0	PZP	9247665	0.000000	0.05858	0.002000	0.10522	0.918000	0.54935	-0.255000	0.08769	-0.591000	0.05859	0.467000	0.42956	GCG		0.512	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		11	75	0	0	0	1	0	11	75				
COL17A1	1308	broad.mit.edu	37	10	105815542	105815542	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr10:105815542T>C	ENST00000353479.5	-	18	1975	c.1685A>G	c.(1684-1686)aAt>aGt	p.N562S	COL17A1_ENST00000480127.1_5'UTR|COL17A1_ENST00000369733.3_Missense_Mutation_p.N562S	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	562	Nonhelical region (NC16).				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GCTCTCACCATTTTCCTGTTC	0.562																																						ENST00000353479.5																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62						c.(1684-1686)aAt>aGt		collagen, type XVII, alpha 1							85.0	87.0	86.0					10																	105815542		2203	4300	6503	SO:0001583	missense	1308				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	g.chr10:105815542T>C	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.1685A>G	10.37:g.105815542T>C	ENSP00000340937:p.Asn562Ser					COL17A1_ENST00000480127.1_5'UTR|COL17A1_ENST00000369733.3_Missense_Mutation_p.N562S	p.N562S	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	18	1975	-		Colorectal(252;0.103)|Breast(234;0.122)	562			Nonhelical region (NC16).		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Missense_Mutation	SNP	ENST00000353479.5	37	c.1685A>G	CCDS7554.1	.	.	.	.	.	.	.	.	.	.	T	6.412	0.444188	0.12164	.	.	ENSG00000065618	ENST00000353479;ENST00000369733;ENST00000541872	D;D	0.90563	-2.69;-2.68	5.1	2.76	0.32466	.	0.268702	0.25925	N	0.027411	T	0.75946	0.3919	N	0.08118	0	0.19945	N	0.999945	B;B	0.14805	0.009;0.011	B;B	0.15870	0.014;0.008	T	0.58819	-0.7569	10	0.09590	T	0.72	-8.5936	7.8813	0.29624	0.0:0.2485:0.0:0.7515	.	562;562	Q9UMD9-2;Q9UMD9	.;COHA1_HUMAN	S	562;562;546	ENSP00000340937:N562S;ENSP00000358748:N562S	ENSP00000340937:N562S	N	-	2	0	COL17A1	105805532	0.736000	0.28164	0.137000	0.22149	0.119000	0.20118	1.659000	0.37387	0.296000	0.22592	0.379000	0.24179	AAT		0.562	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		6	41	0	0	0	1	0	6	41				
LRIT3	345193	broad.mit.edu	37	4	110791755	110791755	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr4:110791755G>T	ENST00000594814.1	+	4	1850	c.1850G>T	c.(1849-1851)tGg>tTg	p.W617L	LRIT3_ENST00000379920.3_Missense_Mutation_p.W572L|LRIT3_ENST00000409621.2_Missense_Mutation_p.W434L|LRIT3_ENST00000327908.3_Missense_Mutation_p.W434L	NM_198506.3	NP_940908.3	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	617					regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		GAACCTTTTTGGGAAGATGAT	0.428																																						ENST00000327908.3																			0				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16						c.(1300-1302)tGg>tTg		leucine-rich repeat, immunoglobulin-like and transmembrane domains 3							106.0	103.0	104.0					4																	110791755		2203	4300	6503	SO:0001583	missense	345193					integral to membrane		g.chr4:110791755G>T	AK126648	CCDS3688.2, CCDS3688.3	4q25	2014-01-28	2007-06-19		ENSG00000183423	ENSG00000183423		"""Immunoglobulin superfamily / I-set domain containing"""	24783	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 4"""	615004					Standard	NM_198506		Approved	FLJ44691, FIGLER4, CSNB1F	uc031sgv.1	Q3SXY7	OTTHUMG00000132043	ENST00000594814.1:c.1850G>T	4.37:g.110791755G>T	ENSP00000469759:p.Trp617Leu					LRIT3_ENST00000409621.2_Missense_Mutation_p.W434L|LRIT3_ENST00000594814.1_Missense_Mutation_p.W617L|LRIT3_ENST00000379920.3_Missense_Mutation_p.W572L	p.W434L			Q3SXY7	LRIT3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0011)	4	2065	+			572					C9J1C2|Q6ZTG1	Missense_Mutation	SNP	ENST00000594814.1	37	c.1301G>T	CCDS3688.3	.	.	.	.	.	.	.	.	.	.	G	15.80	2.940451	0.52972	.	.	ENSG00000183423	ENST00000327908;ENST00000379920;ENST00000409621	T;T;T	0.57273	0.41;0.58;0.41	5.24	5.24	0.73138	.	0.624514	0.17217	N	0.182476	T	0.49643	0.1569	L	0.51422	1.61	0.35560	D	0.80459	P;P	0.47910	0.704;0.902	B;B	0.43301	0.236;0.415	T	0.61515	-0.7047	10	0.42905	T	0.14	.	12.6375	0.56690	0.0862:0.0:0.9138:0.0	.	572;434	Q3SXY7;Q3SXY7-2	LRIT3_HUMAN;.	L	434;572;434	ENSP00000328222:W434L;ENSP00000369252:W572L;ENSP00000386734:W434L	ENSP00000328222:W434L	W	+	2	0	LRIT3	111011204	1.000000	0.71417	0.995000	0.50966	0.818000	0.46254	3.447000	0.52936	2.439000	0.82584	0.561000	0.74099	TGG		0.428	LRIT3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335270.2	NM_198506		4	42	1	0	0.00909568	1	0.0095744	4	42				
COL4A1	1282	broad.mit.edu	37	13	110830547	110830547	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr13:110830547G>C	ENST00000375820.4	-	32	2611	c.2490C>G	c.(2488-2490)ttC>ttG	p.F830L		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	830	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GGAATCCGGGGAAACCCTTCT	0.517																																						ENST00000375820.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(2488-2490)ttC>ttG		collagen, type IV, alpha 1							61.0	69.0	66.0					13																	110830547		2203	4300	6503	SO:0001583	missense	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110830547G>C	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.2490C>G	13.37:g.110830547G>C	ENSP00000364979:p.Phe830Leu						p.F830L	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		32	2611	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	830			Triple-helical region.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	37	c.2490C>G	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.762352	0.49468	.	.	ENSG00000187498	ENST00000375820	D	0.93604	-3.25	5.52	3.79	0.43588	.	0.197951	0.46442	D	0.000298	D	0.86301	0.5900	N	0.01668	-0.77	0.80722	D	1	D	0.55800	0.973	P	0.62560	0.904	T	0.80783	-0.1228	10	0.10902	T	0.67	.	8.2725	0.31853	0.2972:0.0:0.7028:0.0	.	830	P02462	CO4A1_HUMAN	L	830	ENSP00000364979:F830L	ENSP00000364979:F830L	F	-	3	2	COL4A1	109628548	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	1.431000	0.34925	0.698000	0.31739	0.655000	0.94253	TTC		0.517	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			11	92	0	0	0	1	0	11	92				
AMELX	265	broad.mit.edu	37	X	11316948	11316948	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chrX:11316948C>T	ENST00000380714.3	+	5	493	c.425C>T	c.(424-426)cCc>cTc	p.P142L	AMELX_ENST00000348912.4_Missense_Mutation_p.P126L|ARHGAP6_ENST00000413512.3_Intron|ARHGAP6_ENST00000380732.3_Intron|ARHGAP6_ENST00000380736.1_Intron|ARHGAP6_ENST00000380718.1_Intron|AMELX_ENST00000380712.3_Missense_Mutation_p.P156L|ARHGAP6_ENST00000337414.4_Intron	NM_001142.2	NP_001133.1	Q99217	AMELX_HUMAN	amelogenin, X-linked	142					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|enamel mineralization (GO:0070166)|epithelial to mesenchymal transition (GO:0001837)|ion homeostasis (GO:0050801)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of tooth mineralization (GO:0070172)|signal transduction (GO:0007165)|tooth mineralization (GO:0034505)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|hydroxyapatite binding (GO:0046848)|identical protein binding (GO:0042802)|structural constituent of tooth enamel (GO:0030345)			endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						CCCATGCAGCCCCAGCCACCT	0.657																																						ENST00000380712.3																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						c.(466-468)cCc>cTc		amelogenin, X-linked							63.0	55.0	58.0					X																	11316948		2203	4299	6502	SO:0001583	missense	265				cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction	proteinaceous extracellular matrix	cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel	g.chrX:11316948C>T		CCDS14144.1, CCDS14145.1, CCDS14146.1	Xp22.31-p22.1	2010-04-20	2010-04-20		ENSG00000125363	ENSG00000125363			461	protein-coding gene	gene with protein product	"""amelogenesis imperfecta 1"""	300391	"""amelogenin (X chromosome, amelogenesis imperfecta 1)"""	AMG, AIH1		1734713	Standard	NM_182680		Approved		uc004cus.3	Q99217	OTTHUMG00000021130	ENST00000380714.3:c.425C>T	X.37:g.11316948C>T	ENSP00000370090:p.Pro142Leu					ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000380732.3_Intron|ARHGAP6_ENST00000337414.4_Intron|ARHGAP6_ENST00000413512.3_Intron|ARHGAP6_ENST00000380736.1_Intron|AMELX_ENST00000380714.3_Missense_Mutation_p.P142L|AMELX_ENST00000348912.4_Missense_Mutation_p.P126L	p.P156L	NM_182680.1	NP_872621.1	Q99217	AMELX_HUMAN			6	535	+			142					Q96NW6|Q9UCA7	Missense_Mutation	SNP	ENST00000380714.3	37	c.467C>T	CCDS14144.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.344661	0.41498	.	.	ENSG00000125363	ENST00000380714;ENST00000380712;ENST00000348912	D;D;D	0.88818	-2.43;-2.43;-2.43	4.85	4.85	0.62838	.	0.090226	0.47852	D	0.000213	D	0.92293	0.7555	M	0.84846	2.72	0.45822	D	0.998697	P;P;P	0.44429	0.835;0.713;0.665	B;P;B	0.48063	0.429;0.565;0.429	D	0.93803	0.7103	10	0.87932	D	0	-1.0132	16.2104	0.82151	0.0:1.0:0.0:0.0	.	126;142;156	Q99217-2;Q99217;Q99217-3	.;AMELX_HUMAN;.	L	142;156;126	ENSP00000370090:P142L;ENSP00000370088:P156L;ENSP00000335312:P126L	ENSP00000335312:P126L	P	+	2	0	AMELX	11226869	1.000000	0.71417	0.996000	0.52242	0.786000	0.44442	2.917000	0.48821	2.168000	0.68352	0.415000	0.27848	CCC		0.657	AMELX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055746.1	NM_001142		7	54	0	0	0	1	0	7	54				
MAP3K15	389840	broad.mit.edu	37	X	19425376	19425376	+	Missense_Mutation	SNP	A	A	C			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chrX:19425376A>C	ENST00000338883.4	-	13	1773	c.1774T>G	c.(1774-1776)Tgt>Ggt	p.C592G	MAP3K15_ENST00000359173.3_Missense_Mutation_p.C27G|MAP3K15_ENST00000469203.2_Missense_Mutation_p.C424G|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	592							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					TAAAGAAAACAACACCTTTCA	0.338																																						ENST00000338883.4																			0				NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(1774-1776)Tgt>Ggt		mitogen-activated protein kinase kinase kinase 15							108.0	93.0	98.0					X																	19425376		2203	4300	6503	SO:0001583	missense	389840						ATP binding|MAP kinase kinase kinase activity|metal ion binding	g.chrX:19425376A>C	AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.1774T>G	X.37:g.19425376A>C	ENSP00000345629:p.Cys592Gly					MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000359173.3_Missense_Mutation_p.C27G|MAP3K15_ENST00000469203.2_Missense_Mutation_p.C424G	p.C592G	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN			13	1773	-	Hepatocellular(33;0.183)		592					A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Missense_Mutation	SNP	ENST00000338883.4	37	c.1774T>G		.	.	.	.	.	.	.	.	.	.	A	17.49	3.403723	0.62288	.	.	ENSG00000180815	ENST00000338883;ENST00000359173;ENST00000469203	T;T;T	0.73469	-0.73;-0.75;-0.7	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	D	0.85733	0.5765	M	0.81682	2.555	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.87578	0.947;0.998	D	0.87341	0.2331	10	0.59425	D	0.04	.	13.3862	0.60797	1.0:0.0:0.0:0.0	.	67;592	Q6ZN16-3;Q6ZN16	.;M3K15_HUMAN	G	592;27;424	ENSP00000345629:C592G;ENSP00000352093:C27G;ENSP00000428356:C424G	ENSP00000345629:C592G	C	-	1	0	MAP3K15	19335297	1.000000	0.71417	0.998000	0.56505	0.719000	0.41307	6.707000	0.74654	1.802000	0.52723	0.486000	0.48141	TGT		0.338	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671		6	27	0	0	0	1	0	6	27				
AXIN1	8312	broad.mit.edu	37	16	338134	338134	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr16:338134C>G	ENST00000262320.3	-	11	2948	c.2577G>C	c.(2575-2577)gaG>gaC	p.E859D	AXIN1_ENST00000354866.3_Missense_Mutation_p.E823D	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	859	DIX. {ECO:0000255|PROSITE- ProRule:PRU00069}.				activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				AGTCCACCTTCTCCACTTTGC	0.622																																						ENST00000262320.3																			0				biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221						c.(2575-2577)gaG>gaC		axin 1							159.0	140.0	146.0					16																	338134		2203	4300	6503	SO:0001583	missense	8312				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr16:338134C>G	AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	903	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 49"""	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.2577G>C	16.37:g.338134C>G	ENSP00000262320:p.Glu859Asp					AXIN1_ENST00000354866.3_Missense_Mutation_p.E823D	p.E859D	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN			11	2948	-		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)	859			DIX.		Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Missense_Mutation	SNP	ENST00000262320.3	37	c.2577G>C	CCDS10405.1	.	.	.	.	.	.	.	.	.	.	c	13.73	2.325183	0.41197	.	.	ENSG00000103126	ENST00000262320;ENST00000354866	T;T	0.49432	0.78;0.78	4.53	0.00623	0.14066	DIX (3);	0.050385	0.85682	N	0.000000	T	0.60869	0.2302	M	0.78049	2.395	0.48830	D	0.999712	D;D	0.89917	0.997;1.0	D;D	0.91635	0.992;0.999	T	0.56565	-0.7958	10	0.59425	D	0.04	-21.012	4.7206	0.12917	0.0:0.4022:0.2838:0.3139	.	823;859	O15169-2;O15169	.;AXIN1_HUMAN	D	859;823	ENSP00000262320:E859D;ENSP00000346935:E823D	ENSP00000262320:E859D	E	-	3	2	AXIN1	278135	0.740000	0.28207	0.994000	0.49952	0.251000	0.25915	-0.089000	0.11180	-0.253000	0.09514	-0.180000	0.13094	GAG		0.622	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3			8	145	0	0	0	1	0	8	145				
RCBTB2	1102	broad.mit.edu	37	13	49070352	49070352	+	Missense_Mutation	SNP	G	G	A	rs373552083		TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr13:49070352G>A	ENST00000344532.3	-	14	1913	c.1490C>T	c.(1489-1491)tCg>tTg	p.S497L	RCBTB2_ENST00000430805.2_Missense_Mutation_p.S502L|RCBTB2_ENST00000544492.1_Missense_Mutation_p.S223L	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	497	BTB 2. {ECO:0000255|PROSITE- ProRule:PRU00037}.				positive regulation of Ran GTPase activity (GO:0032853)	acrosomal vesicle (GO:0001669)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		CACCGCAGCCGAGAGCAGAGC	0.488																																						ENST00000344532.3																			0				breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31						c.(1489-1491)tCg>tTg		regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2		G	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	90.0	84.0	86.0		1490	4.2	0.7	13		86	0,8600		0,0,4300	no	missense	RCBTB2	NM_001268.2	145	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	497/552	49070352	1,13005	2203	4300	6503	SO:0001583	missense	1102						Ran guanyl-nucleotide exchange factor activity	g.chr13:49070352G>A	AF060219	CCDS9411.1, CCDS73570.1, CCDS73571.1, CCDS73572.1	13q14.3	2013-01-08	2005-05-09	2005-05-09	ENSG00000136161	ENSG00000136161		"""BTB/POZ domain containing"""	1914	protein-coding gene	gene with protein product		603524	"""chromosome condensation 1-like"""	CHC1L		9806834	Standard	XM_005266242		Approved		uc001vch.3	O95199	OTTHUMG00000016902	ENST00000344532.3:c.1490C>T	13.37:g.49070352G>A	ENSP00000345144:p.Ser497Leu					RCBTB2_ENST00000544492.1_Missense_Mutation_p.S223L|RCBTB2_ENST00000430805.2_Missense_Mutation_p.S502L	p.S497L	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)	14	1913	-		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	497			BTB 2.		B2RDW8	Missense_Mutation	SNP	ENST00000344532.3	37	c.1490C>T	CCDS9411.1	.	.	.	.	.	.	.	.	.	.	g	13.79	2.342982	0.41498	2.27E-4	0.0	ENSG00000136161	ENST00000344532;ENST00000450343;ENST00000452987;ENST00000430805;ENST00000544492	T;T;T	0.75050	-0.02;-0.02;-0.9	5.04	4.19	0.49359	.	0.058843	0.64402	D	0.000001	T	0.72095	0.3418	M	0.71581	2.175	0.80722	D	1	P;B;B;P	0.47762	0.9;0.348;0.004;0.532	B;B;B;B	0.39299	0.296;0.195;0.002;0.251	T	0.76756	-0.2842	10	0.72032	D	0.01	.	13.6136	0.62094	0.0757:0.0:0.9243:0.0	.	223;502;449;497	B4E372;B4DWG0;B3KVB1;O95199	.;.;.;RCBT2_HUMAN	L	497;449;502;502;223	ENSP00000345144:S497L;ENSP00000389910:S502L;ENSP00000443862:S223L	ENSP00000345144:S497L	S	-	2	0	RCBTB2	47968353	1.000000	0.71417	0.685000	0.30070	0.350000	0.29205	7.452000	0.80683	1.249000	0.43950	0.558000	0.71614	TCG		0.488	RCBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044888.2	NM_001268		5	48	0	0	0	1	0	5	48				
DDB2	1643	broad.mit.edu	37	11	47259428	47259428	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr11:47259428G>A	ENST00000256996.4	+	8	1259	c.1064G>A	c.(1063-1065)cGa>cAa	p.R355Q	ACP2_ENST00000525230.1_5'Flank|DDB2_ENST00000378601.3_3'UTR|DDB2_ENST00000378600.3_Missense_Mutation_p.R166Q|DDB2_ENST00000378603.3_Missense_Mutation_p.R291Q	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2, 48kDa	355					DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|pyrimidine dimer repair (GO:0006290)|response to UV (GO:0009411)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|nucleoplasm (GO:0005654)|protein complex (GO:0043234)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						GTTGTGGGCCGATACCCAGAT	0.498			"""Mis, N"""			"""skin basal cell, skin squamous cell, melanoma"""		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000256996.4			yes	Rec		Xeroderma pigmentosum (E)	11	11p12	1643	"""Mis, N"""	damage-specific DNA binding protein 2			E		"""skin basal cell, skin squamous cell, melanoma"""			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						c.(1063-1065)cGa>cAa	Direct reversal of damage;Nucleotide excision repair (NER)	damage-specific DNA binding protein 2, 48kDa							109.0	105.0	106.0					11																	47259428		2201	4298	6499	SO:0001583	missense	1643	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding	g.chr11:47259428G>A		CCDS7927.1, CCDS73284.1	11p12-p11	2014-09-17	2002-08-29			ENSG00000134574		"""WD repeat domain containing"""	2718	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group E protein"", ""UV-damaged DNA-binding protein 2"", ""DDB p48 subunit"""	600811	"""damage-specific DNA binding protein 2 (48kD)"""			8407967, 8530102	Standard	NM_000107		Approved	DDBB, UV-DDB2, FLJ34321	uc001neb.2	Q92466		ENST00000256996.4:c.1064G>A	11.37:g.47259428G>A	ENSP00000256996:p.Arg355Gln					DDB2_ENST00000378600.3_Missense_Mutation_p.R166Q|DDB2_ENST00000378603.3_Missense_Mutation_p.R291Q|DDB2_ENST00000378601.3_3'UTR	p.R355Q	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN			8	1259	+			355					B2R875|Q76E54|Q76E55|Q76E56|Q76E57	Missense_Mutation	SNP	ENST00000256996.4	37	c.1064G>A	CCDS7927.1	.	.	.	.	.	.	.	.	.	.	G	36	5.887882	0.97068	.	.	ENSG00000134574	ENST00000256996;ENST00000378603;ENST00000378600	T;T;D	0.83591	-0.74;2.8;-1.74	6.08	6.08	0.98989	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.91408	0.7289	M	0.79123	2.44	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.997	D	0.88223	0.2898	10	0.29301	T	0.29	-0.0207	20.6634	0.99662	0.0:0.0:1.0:0.0	.	291;166;355	Q92466-4;Q92466-2;Q92466	.;.;DDB2_HUMAN	Q	355;291;166	ENSP00000256996:R355Q;ENSP00000367866:R291Q;ENSP00000367863:R166Q	ENSP00000256996:R355Q	R	+	2	0	DDB2	47216004	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	9.259000	0.95561	2.894000	0.99253	0.655000	0.94253	CGA		0.498	DDB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000107		15	61	0	0	0	1	0	15	61				
PKP4	8502	broad.mit.edu	37	2	159522944	159522944	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr2:159522944C>T	ENST00000389759.3	+	16	2709	c.2597C>T	c.(2596-2598)gCg>gTg	p.A866V	PKP4_ENST00000495123.1_3'UTR|PKP4_ENST00000389757.3_Missense_Mutation_p.A866V|AC005042.4_ENST00000342892.4_RNA	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	866					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						TATATCCGGGCGGCCGTCCGA	0.438										HNSCC(62;0.18)																												ENST00000389757.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						c.(2596-2598)gCg>gTg		plakophilin 4							108.0	113.0	111.0					2																	159522944		2203	4300	6503	SO:0001583	missense	8502				cell adhesion	desmosome	protein binding	g.chr2:159522944C>T	X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.2597C>T	2.37:g.159522944C>T	ENSP00000374409:p.Ala866Val	HNSCC(62;0.18)				AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000495123.1_3'UTR|PKP4_ENST00000389759.3_Missense_Mutation_p.A866V	p.A866V	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN			16	2722	+			866					Q86W91	Missense_Mutation	SNP	ENST00000389759.3	37	c.2597C>T	CCDS33305.1	.	.	.	.	.	.	.	.	.	.	C	34	5.297678	0.95574	.	.	ENSG00000144283	ENST00000389757;ENST00000389759	T;T	0.69806	-0.43;-0.43	5.41	5.41	0.78517	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81969	0.4935	M	0.69823	2.125	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.971	D;D;P	0.91635	0.971;0.999;0.544	T	0.82153	-0.0598	10	0.54805	T	0.06	-12.289	19.5522	0.95324	0.0:1.0:0.0:0.0	.	821;866;866	Q4W5T8;Q99569-2;Q99569	.;.;PKP4_HUMAN	V	866	ENSP00000374407:A866V;ENSP00000374409:A866V	ENSP00000374407:A866V	A	+	2	0	PKP4	159231190	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.772000	0.85439	2.689000	0.91719	0.655000	0.94253	GCG		0.438	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1			9	53	0	0	0	1	0	9	53				
PCDHB8	56128	broad.mit.edu	37	5	140559724	140559724	+	Silent	SNP	C	C	T			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr5:140559724C>T	ENST00000239444.2	+	1	2354	c.2109C>T	c.(2107-2109)ctC>ctT	p.L703L	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	703					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCTCTTCCTCTTCTCGGTGC	0.677																																						ENST00000239444.2																			0				NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83						c.(2107-2109)ctC>ctT									98.0	97.0	97.0					5																	140559724		2201	4297	6498	SO:0001819	synonymous_variant	56128				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140559724C>T	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.2109C>T	5.37:g.140559724C>T							p.L703L	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2354	+			703					B9EGV1	Silent	SNP	ENST00000239444.2	37	c.2109C>T	CCDS4250.1																																																																																				0.677	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		35	205	0	0	0	1	0	35	205				
EVPL	2125	broad.mit.edu	37	17	74005143	74005143	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr17:74005143G>C	ENST00000301607.3	-	22	4396	c.4143C>G	c.(4141-4143)gaC>gaG	p.D1381E	EVPL_ENST00000586740.1_Missense_Mutation_p.D1403E	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1381	Central fibrous rod domain.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GCAGCTTCGGGTCCTTCTGGG	0.687																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(4141-4143)gaC>gaG		envoplakin							62.0	66.0	64.0					17																	74005143		2195	4276	6471	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74005143G>C	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.4143C>G	17.37:g.74005143G>C	ENSP00000301607:p.Asp1381Glu					EVPL_ENST00000586740.1_Missense_Mutation_p.D1403E	p.D1381E	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			22	4396	-			1381			Central fibrous rod domain.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.4143C>G	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.634237	0.47049	.	.	ENSG00000167880	ENST00000301607	T	0.38077	1.16	5.55	3.55	0.40652	.	0.051108	0.85682	D	0.000000	T	0.54515	0.1863	M	0.73598	2.24	0.42263	D	0.992029	D;D	0.89917	1.0;0.996	D;P	0.87578	0.998;0.876	T	0.52056	-0.8626	10	0.21014	T	0.42	-50.2576	10.3278	0.43805	0.2302:0.0:0.7698:0.0	.	1403;1381	B7ZLH8;Q92817	.;EVPL_HUMAN	E	1381	ENSP00000301607:D1381E	ENSP00000301607:D1381E	D	-	3	2	EVPL	71516738	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.989000	0.40707	0.705000	0.31890	0.655000	0.94253	GAC		0.687	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		18	121	0	0	0	1	0	18	121				
TENM1	10178	broad.mit.edu	37	X	123657466	123657466	+	Silent	SNP	G	G	A			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chrX:123657466G>A	ENST00000371130.3	-	17	2844	c.2781C>T	c.(2779-2781)ctC>ctT	p.L927L	TENM1_ENST00000422452.2_Silent_p.L927L	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	927					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CGATGGCCACGAGGTCAAAGC	0.393																																						ENST00000422452.2																			0											c.(2779-2781)ctC>ctT		teneurin transmembrane protein 1							45.0	39.0	41.0					X																	123657466		2203	4300	6503	SO:0001819	synonymous_variant	10178							g.chrX:123657466G>A	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.2781C>T	X.37:g.123657466G>A						TENM1_ENST00000371130.3_Silent_p.L927L	p.L927L	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					17	2844	-								B2RTR5|Q5JZ17	Silent	SNP	ENST00000371130.3	37	c.2781C>T	CCDS14609.1																																																																																				0.393	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		4	29	0	0	0	1	0	4	29				
CFH	3075	broad.mit.edu	37	1	196711010	196711010	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr1:196711010G>T	ENST00000367429.4	+	19	3202	c.2962G>T	c.(2962-2964)Gat>Tat	p.D988Y		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	988	Sushi 17. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TTCAGAAACAGATTGTCTCAG	0.343																																						ENST00000367429.4																			0				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(2962-2964)Gat>Tat		complement factor H							83.0	82.0	82.0					1																	196711010		2203	4300	6503	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196711010G>T	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.2962G>T	1.37:g.196711010G>T	ENSP00000356399:p.Asp988Tyr						p.D988Y	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			19	3202	+			988			Sushi 17.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000367429.4	37	c.2962G>T	CCDS1385.1	.	.	.	.	.	.	.	.	.	.	.	14.88	2.666841	0.47677	.	.	ENSG00000000971	ENST00000367429	T	0.73897	-0.79	5.72	-1.32	0.09201	Complement control module (2);Sushi/SCR/CCP (1);	.	.	.	.	T	0.58581	0.2132	L	0.50993	1.605	0.09310	N	1	B	0.30584	0.286	B	0.22386	0.039	T	0.42137	-0.9469	9	0.28530	T	0.3	.	3.1155	0.06373	0.3754:0.0:0.3192:0.3054	.	988	P08603	CFAH_HUMAN	Y	988	ENSP00000356399:D988Y	ENSP00000356399:D988Y	D	+	1	0	CFH	194977633	0.006000	0.16342	0.001000	0.08648	0.023000	0.10783	0.033000	0.13754	-0.059000	0.13154	0.650000	0.86243	GAT		0.343	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		8	40	1	0	5.18039e-06	1	5.69274e-06	8	40				
FRMPD4	9758	broad.mit.edu	37	X	12712510	12712510	+	Silent	SNP	C	C	T			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chrX:12712510C>T	ENST00000380682.1	+	9	1376	c.870C>T	c.(868-870)gtC>gtT	p.V290V		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	290	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TTAGCTTCGTCCCAAAAGATC	0.413																																						ENST00000380682.1																			0				breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						c.(868-870)gtC>gtT		FERM and PDZ domain containing 4							147.0	113.0	124.0					X																	12712510		2203	4300	6503	SO:0001819	synonymous_variant	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12712510C>T	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.870C>T	X.37:g.12712510C>T							p.V290V	NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN			9	1376	+			290			FERM.		A8K0X9|O15032	Silent	SNP	ENST00000380682.1	37	c.870C>T	CCDS35201.1																																																																																				0.413	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		12	41	0	0	0	1	0	12	41				
NEK8	284086	broad.mit.edu	37	17	27064746	27064746	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr17:27064746G>A	ENST00000268766.6	+	6	915	c.881G>A	c.(880-882)cGc>cAc	p.R294H	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	294					organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					ACCAGTGTCCGCTGCAGAGGT	0.597																																					NSCLC(6;19 293 14866 25253 49845)	ENST00000268766.6																			0				breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(880-882)cGc>cAc		NIMA-related kinase 8							77.0	86.0	83.0					17																	27064746		2203	4300	6503	SO:0001583	missense	284086					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:27064746G>A	AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"""NIMA (never in mitosis gene a)- related kinase 8"""			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.881G>A	17.37:g.27064746G>A	ENSP00000268766:p.Arg294His					AC010761.6_ENST00000584779.1_RNA	p.R294H	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN			6	915	+	Lung NSC(42;0.0158)		294					A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Missense_Mutation	SNP	ENST00000268766.6	37	c.881G>A	CCDS32597.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.510537	0.64522	.	.	ENSG00000160602	ENST00000268766	T	0.70749	-0.51	5.48	5.48	0.80851	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.67449	0.2894	L	0.60455	1.87	0.58432	D	0.999992	P	0.40266	0.71	B	0.36666	0.23	T	0.70472	-0.4862	10	0.48119	T	0.1	.	16.4347	0.83871	0.0:0.0:1.0:0.0	.	294	Q86SG6	NEK8_HUMAN	H	294	ENSP00000268766:R294H	ENSP00000268766:R294H	R	+	2	0	NEK8	24088873	0.560000	0.26570	1.000000	0.80357	0.511000	0.34104	2.270000	0.43355	2.734000	0.93682	0.591000	0.81541	CGC		0.597	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446467.2			13	84	0	0	0	1	0	13	84				
KDM3B	51780	broad.mit.edu	37	5	137715387	137715387	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr5:137715387C>T	ENST00000314358.5	+	5	895	c.695C>T	c.(694-696)tCt>tTt	p.S232F		NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	232					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						ATGGAGGTGTCTGTAACTGAG	0.468																																						ENST00000314358.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						c.(694-696)tCt>tTt		lysine (K)-specific demethylase 3B							170.0	146.0	154.0					5																	137715387		2203	4300	6503	SO:0001583	missense	51780				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr5:137715387C>T	AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.695C>T	5.37:g.137715387C>T	ENSP00000326563:p.Ser232Phe						p.S232F	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN			5	895	+			232					A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	ENST00000314358.5	37	c.695C>T	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	C	19.37	3.813956	0.70912	.	.	ENSG00000120733	ENST00000314358;ENST00000545151	T	0.62232	0.04	5.04	5.04	0.67666	.	0.116700	0.64402	D	0.000016	T	0.53110	0.1776	L	0.50333	1.59	0.80722	D	1	P	0.40476	0.718	B	0.33196	0.159	T	0.60984	-0.7154	10	0.62326	D	0.03	-30.8853	13.115	0.59295	0.0:0.9223:0.0:0.0777	.	232	Q7LBC6	KDM3B_HUMAN	F	232;22	ENSP00000326563:S232F	ENSP00000326563:S232F	S	+	2	0	KDM3B	137743286	1.000000	0.71417	0.994000	0.49952	0.911000	0.54048	4.042000	0.57347	2.496000	0.84212	0.557000	0.71058	TCT		0.468	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		7	40	0	0	0	1	0	7	40				
KLK3	354	broad.mit.edu	37	19	51361452	51361452	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr19:51361452G>A	ENST00000326003.2	+	3	415	c.374G>A	c.(373-375)cGc>cAc	p.R125H	KLK3_ENST00000360617.3_Missense_Mutation_p.R125H|KLK3_ENST00000597483.1_Missense_Mutation_p.R82H|KLK3_ENST00000593997.1_Missense_Mutation_p.R125H|KLK3_ENST00000595952.1_Missense_Mutation_p.R82H	NM_001030047.1|NM_001030048.1|NM_001648.2	NP_001025218.1|NP_001025219.1|NP_001639.1	P07288	KLK3_HUMAN	kallikrein-related peptidase 3	125	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular protein metabolic process (GO:0044267)|negative regulation of angiogenesis (GO:0016525)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		ATGCTGCTCCGCCTGTCAGAG	0.627																																					Colon(185;1767 2023 13025 30120 37630)	ENST00000360617.3																			0				breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(373-375)cGc>cAc		kallikrein-related peptidase 3							73.0	62.0	65.0					19																	51361452		2203	4300	6503	SO:0001583	missense	354				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51361452G>A	X14810	CCDS12807.1, CCDS33083.1, CCDS46155.1	19q13.41	2012-10-02	2006-10-27			ENSG00000142515		"""Kallikreins"""	6364	protein-coding gene	gene with protein product		176820	"""kallikrein 3, (prostate specific antigen)"""	APS		2456523, 2436946, 16800724, 16800723	Standard	NM_001648		Approved	PSA	uc021uyi.1	P07288		ENST00000326003.2:c.374G>A	19.37:g.51361452G>A	ENSP00000314151:p.Arg125His					KLK3_ENST00000595952.1_Missense_Mutation_p.R82H|KLK3_ENST00000597483.1_Missense_Mutation_p.R82H|KLK3_ENST00000326003.2_Missense_Mutation_p.R125H|KLK3_ENST00000593997.1_Missense_Mutation_p.R125H	p.R125H			P07288	KLK3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)	3	374	+		all_neural(266;0.057)	125			Peptidase S1.		C9JXH3|G3V0H4|G3XAE3|Q15096|Q16272|Q86TG8|Q8IXI4	Missense_Mutation	SNP	ENST00000326003.2	37	c.374G>A	CCDS12807.1	.	.	.	.	.	.	.	.	.	.	G	8.896	0.955155	0.18507	.	.	ENSG00000142515	ENST00000326003;ENST00000422986;ENST00000360617	D;D	0.89617	-2.54;-2.54	2.31	-3.62	0.04543	.	0.694589	0.12059	N	0.503328	T	0.81245	0.4782	L	0.54908	1.71	0.09310	N	1	P;B	0.41710	0.76;0.292	B;B	0.34873	0.191;0.026	T	0.70468	-0.4863	10	0.37606	T	0.19	.	8.6533	0.34049	0.7476:0.0:0.2524:0.0	.	125;82	G3XAE3;G3V0H4	.;.	H	125;82;125	ENSP00000314151:R125H;ENSP00000353829:R125H	ENSP00000314151:R125H	R	+	2	0	KLK3	56053264	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.551000	0.06027	-0.792000	0.04480	-0.438000	0.05819	CGC		0.627	KLK3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464067.1	NM_145864		4	44	0	0	0	1	0	4	44				
MUC5AC	4586	broad.mit.edu	37	11	1156628	1156628	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr11:1156628C>T	ENST00000356191.2	+	10	637	c.637C>T	c.(637-639)Cgg>Tgg	p.R213W				P98088	MUC5A_HUMAN	mucin 5AC, oligomeric mucus/gel-forming	212	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|extracellular fibril organization (GO:0043206)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|fibril (GO:0043205)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		GGGACTTCAACGGGATGCCCG	0.617																																						ENST00000356191.2																			0				NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203						c.(637-639)Cgg>Tgg		mucin 5AC, oligomeric mucus/gel-forming							123.0	118.0	119.0					11																	1156628		875	1990	2865	SO:0001583	missense	4586							g.chr11:1156628C>T	AJ001402, AJ298317		11p15.5	2007-04-23	2006-03-14		ENSG00000215182	ENSG00000215182		"""Mucins"""	7515	protein-coding gene	gene with protein product		158373	"""mucin 5, subtypes A and C, tracheobronchial/gastric"""			7826332, 9588204	Standard	XM_006709945		Approved	MUC5	uc001lsz.3	P98088	OTTHUMG00000154270	ENST00000356191.2:c.637C>T	11.37:g.1156628C>T	ENSP00000348519:p.Arg213Trp						p.R213W						BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)	10	637	+		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)						O60460|O76065|Q13792|Q14425|Q658Q1|Q7M4S5|Q8N4M9|Q8WWQ3|Q8WWQ4|Q8WWQ5	Missense_Mutation	SNP	ENST00000356191.2	37	c.637C>T		.	.	.	.	.	.	.	.	.	.	c	4.030	0.002995	0.07866	.	.	ENSG00000215182	ENST00000356191	T	0.19938	2.11	3.27	-2.32	0.06745	.	.	.	.	.	T	0.26268	0.0641	.	.	.	.	.	.	.	.	.	.	.	.	T	0.45483	-0.9258	5	0.87932	D	0	.	9.4148	0.38514	0.0:0.4:0.0:0.6	.	.	.	.	W	213	ENSP00000348519:R213W	ENSP00000348519:R213W	R	+	1	2	MUC5AC	1146628	0.002000	0.14202	0.478000	0.27316	0.067000	0.16453	-1.546000	0.02188	-0.359000	0.08150	-0.241000	0.12123	CGG		0.617	MUC5AC-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_001130382		8	80	0	0	0	1	0	8	80				
MCM7	4176	broad.mit.edu	37	7	99696765	99696765	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr7:99696765C>G	ENST00000303887.5	-	5	1108	c.463G>C	c.(463-465)Gac>Cac	p.D155H	AP4M1_ENST00000429084.1_5'Flank|MCM7_ENST00000354230.3_5'UTR|AP4M1_ENST00000421755.1_5'Flank|MCM7_ENST00000343023.6_Missense_Mutation_p.D155H|AP4M1_ENST00000359593.4_5'Flank|AP4M1_ENST00000422582.1_5'Flank	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	155					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of phosphorylation (GO:0042325)|response to drug (GO:0042493)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCCACAGAGTCAGCCCGCACT	0.517																																						ENST00000303887.5																			0				endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17						c.(463-465)Gac>Cac		minichromosome maintenance complex component 7	Atorvastatin(DB01076)						116.0	102.0	106.0					7																	99696765		2203	4300	6503	SO:0001583	missense	4176				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding	g.chr7:99696765C>G		CCDS5683.1, CCDS5684.1	7q21.3-q22.1	2014-06-12	2007-04-04		ENSG00000166508	ENSG00000166508			6950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 104"""	600592	"""minichromosome maintenance deficient (S. cerevisiae) 7"", ""MCM7 minichromosome maintenance deficient 7 (S. cerevisiae)"""	MCM2		7842741	Standard	NM_005916		Approved	CDC47, PPP1R104	uc003usw.1	P33993	OTTHUMG00000154671	ENST00000303887.5:c.463G>C	7.37:g.99696765C>G	ENSP00000307288:p.Asp155His					MCM7_ENST00000354230.3_5'UTR|MCM7_ENST00000343023.6_Missense_Mutation_p.D155H	p.D155H	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN			5	1108	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		155					A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	Missense_Mutation	SNP	ENST00000303887.5	37	c.463G>C	CCDS5683.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.597427	0.66332	.	.	ENSG00000166508	ENST00000343023;ENST00000303887;ENST00000542483;ENST00000362082;ENST00000425308	T;T;T	0.11930	2.73;2.73;2.73	4.4	4.4	0.53042	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.049672	0.85682	D	0.000000	T	0.19287	0.0463	L	0.58810	1.83	0.80722	D	1	P	0.44429	0.835	B	0.43701	0.428	T	0.01652	-1.1303	10	0.56958	D	0.05	-5.0872	14.5154	0.67816	0.0:1.0:0.0:0.0	.	155	P33993	MCM7_HUMAN	H	155;155;92;48;48	ENSP00000344006:D155H;ENSP00000307288:D155H;ENSP00000411295:D48H	ENSP00000307288:D155H	D	-	1	0	MCM7	99534701	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	5.121000	0.64691	2.271000	0.75665	0.462000	0.41574	GAC		0.517	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336534.3			5	80	0	0	0	1	0	5	80				
VCAN	1462	broad.mit.edu	37	5	82786270	82786270	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr5:82786270A>G	ENST00000265077.3	+	3	989	c.424A>G	c.(424-426)Acg>Gcg	p.T142A	VCAN_ENST00000342785.4_Missense_Mutation_p.T142A|VCAN_ENST00000502527.2_Missense_Mutation_p.T142A|VCAN_ENST00000513984.1_Missense_Mutation_p.T142A|VCAN_ENST00000512590.2_Missense_Mutation_p.T94A|VCAN_ENST00000343200.5_Missense_Mutation_p.T142A	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	142	Ig-like V-type.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	CACACAAGACACGGTGTCACT	0.493																																						ENST00000265077.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(424-426)Acg>Gcg		versican							129.0	126.0	127.0					5																	82786270		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82786270A>G	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.424A>G	5.37:g.82786270A>G	ENSP00000265077:p.Thr142Ala					VCAN_ENST00000513984.1_Missense_Mutation_p.T142A|VCAN_ENST00000502527.2_Missense_Mutation_p.T142A|VCAN_ENST00000512590.2_Missense_Mutation_p.T94A|VCAN_ENST00000343200.5_Missense_Mutation_p.T142A|VCAN_ENST00000342785.4_Missense_Mutation_p.T142A	p.T142A	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	3	989	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	142			Ig-like V-type.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.424A>G	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	A	11.36	1.617045	0.28801	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000513960;ENST00000513984;ENST00000502527	T;T;T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58;1.58;1.58	5.73	1.86	0.25419	C-type lectin fold (1);Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.414253	0.23260	N	0.050143	T	0.27278	0.0669	L	0.55481	1.735	0.30214	N	0.797431	B;B;B;B;B	0.24618	0.097;0.013;0.082;0.107;0.002	B;B;B;B;B	0.32149	0.12;0.025;0.058;0.141;0.012	T	0.22871	-1.0204	10	0.54805	T	0.06	.	4.7324	0.12972	0.6145:0.0:0.1324:0.2531	.	142;142;142;142;142	P13611-3;P13611-4;P13611-2;P13611;Q86W61	.;.;.;CSPG2_HUMAN;.	A	142;142;142;94;142;142;142	ENSP00000265077:T142A;ENSP00000340062:T142A;ENSP00000342768:T142A;ENSP00000425959:T94A;ENSP00000426251:T142A;ENSP00000426715:T142A;ENSP00000421362:T142A	ENSP00000265077:T142A	T	+	1	0	VCAN	82822026	0.003000	0.15002	0.001000	0.08648	0.443000	0.32047	0.328000	0.19681	0.072000	0.16694	-0.527000	0.04329	ACG		0.493	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		12	47	0	0	0	1	0	12	47				
COL6A6	131873	broad.mit.edu	37	3	130282214	130282214	+	Missense_Mutation	SNP	G	G	A	rs371005676	byFrequency	TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr3:130282214G>A	ENST00000358511.6	+	2	398	c.367G>A	c.(367-369)Gca>Aca	p.A123T	COL6A6_ENST00000453409.2_Missense_Mutation_p.A123T	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	123	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CTCTGCACCCGCAAATGGGAG	0.502																																						ENST00000358511.6																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(367-369)Gca>Aca		collagen, type VI, alpha 6		A	THR/ALA	0,3748		0,0,1874	39.0	38.0	39.0		367	-6.7	0.0	3		39	2,8190		0,2,4094	no	missense	COL6A6	NM_001102608.1	58	0,2,5968	AA,AG,GG		0.0244,0.0,0.0168	benign	123/2264	130282214	2,11938	1874	4096	5970	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130282214G>A	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.367G>A	3.37:g.130282214G>A	ENSP00000351310:p.Ala123Thr					COL6A6_ENST00000453409.2_Missense_Mutation_p.A123T	p.A123T	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN			2	398	+			123			Nonhelical region.|VWFA 1.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.367G>A	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	g	0.872	-0.731546	0.03135	0.0	2.44E-4	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.79352	-1.26;-1.26	4.85	-6.72	0.01755	von Willebrand factor, type A (3);	1.040770	0.07603	N	0.923964	T	0.61311	0.2337	L	0.45051	1.395	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.46091	-0.9216	10	0.12430	T	0.62	.	6.737	0.23415	0.5324:0.1195:0.3481:0.0	.	123	A6NMZ7	CO6A6_HUMAN	T	123	ENSP00000351310:A123T;ENSP00000399236:A123T	ENSP00000351310:A123T	A	+	1	0	COL6A6	131764904	0.000000	0.05858	0.000000	0.03702	0.202000	0.24057	-0.082000	0.11304	-1.195000	0.02680	-1.193000	0.01689	GCA		0.502	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		4	36	0	0	0	1	0	4	36				
EYA4	2070	broad.mit.edu	37	6	133846228	133846228	+	Intron	SNP	G	G	C	rs143208937	byFrequency	TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr6:133846228G>C	ENST00000367895.5	+	19	2202				EYA4_ENST00000355167.3_Missense_Mutation_p.R605P|EYA4_ENST00000430974.2_Missense_Mutation_p.R557P|EYA4_ENST00000525849.1_Missense_Mutation_p.R582P|EYA4_ENST00000355286.6_Intron|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000531901.1_Intron|EYA4_ENST00000452339.2_Missense_Mutation_p.R551P|EYA4_ENST00000431403.2_Missense_Mutation_p.R605P	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4						anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		GGAGATGGCCGAGATGAGGAG	0.403																																					Melanoma(57;398 1237 3528 4702 7415)	ENST00000355167.3																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48						c.(1813-1815)cGa>cCa		eyes absent homolog 4 (Drosophila)							154.0	143.0	147.0					6																	133846228		2203	4300	6503	SO:0001627	intron_variant	2070				anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr6:133846228G>C	Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3522	protein-coding gene	gene with protein product		603550	"""eyes absent (Drosophila) homolog 4"", ""eyes absent homolog 4 (Drosophila)"""	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.1739-64G>C	6.37:g.133846228G>C						EYA4_ENST00000452339.2_Missense_Mutation_p.R551P|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000431403.2_Missense_Mutation_p.R605P|EYA4_ENST00000430974.2_Missense_Mutation_p.R557P|EYA4_ENST00000531901.1_Intron|EYA4_ENST00000367895.5_Intron|EYA4_ENST00000355286.6_Intron|EYA4_ENST00000525849.1_Missense_Mutation_p.R582P	p.R605P	NM_172105.3	NP_742103.1	O95677	EYA4_HUMAN		GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)	19	2272	+	Colorectal(23;0.221)		605					B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Missense_Mutation	SNP	ENST00000367895.5	37	c.1814G>C	CCDS5165.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.515134	0.44763	.	.	ENSG00000112319	ENST00000452339;ENST00000430974;ENST00000355167;ENST00000525849;ENST00000431403	D;D;D;D;D	0.97016	-4.21;-2.42;-4.21;-4.21;-4.21	5.8	5.8	0.92144	.	.	.	.	.	D	0.90508	0.7026	L	0.28504	0.86	0.38847	D	0.956185	B;P;B	0.34757	0.098;0.467;0.098	B;B;B	0.38880	0.229;0.284;0.229	D	0.88893	0.3347	9	0.25751	T	0.34	.	13.2885	0.60258	0.072:0.0:0.928:0.0	.	557;551;605	E7ESD5;E7EN58;O95677-4	.;.;.	P	551;557;605;582;605	ENSP00000395916:R551P;ENSP00000388670:R557P;ENSP00000347294:R605P;ENSP00000433219:R582P;ENSP00000404558:R605P	ENSP00000347294:R605P	R	+	2	0	EYA4	133887921	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.638000	0.67861	2.744000	0.94065	0.655000	0.94253	CGA		0.403	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	NM_004100		6	46	0	0	0	1	0	6	46				
PHTF1	10745	broad.mit.edu	37	1	114269129	114269129	+	Silent	SNP	G	G	A			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr1:114269129G>A	ENST00000369604.1	-	6	882	c.399C>T	c.(397-399)tgC>tgT	p.C133C	PHTF1_ENST00000393357.2_Silent_p.C133C|PHTF1_ENST00000369596.2_Silent_p.C80C|PHTF1_ENST00000369600.1_Silent_p.C80C|PHTF1_ENST00000369598.1_Silent_p.C133C|PHTF1_ENST00000447664.2_Silent_p.C133C|PHTF1_ENST00000357783.2_Silent_p.C133C			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	133					transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTAGCATAAGGCACAAGGGTC	0.363																																						ENST00000369604.1																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(397-399)tgC>tgT		putative homeodomain transcription factor 1							159.0	137.0	145.0					1																	114269129		2203	4300	6503	SO:0001819	synonymous_variant	10745					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:114269129G>A	AJ011863	CCDS861.1	1p13-p11	2008-07-18			ENSG00000116793	ENSG00000116793			8939	protein-coding gene	gene with protein product		604950		PHTF		10395808	Standard	NM_006608		Approved		uc009wgp.1	Q9UMS5	OTTHUMG00000011800	ENST00000369604.1:c.399C>T	1.37:g.114269129G>A						PHTF1_ENST00000447664.2_Silent_p.C133C|PHTF1_ENST00000369600.1_Silent_p.C80C|PHTF1_ENST00000369596.2_Silent_p.C80C|PHTF1_ENST00000393357.2_Silent_p.C133C|PHTF1_ENST00000357783.2_Silent_p.C133C|PHTF1_ENST00000369598.1_Silent_p.C133C	p.C133C			Q9UMS5	PHTF1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	6	882	-	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)	133					Q5VWP7|Q5VWP8|Q9BUP2|Q9H1X8	Silent	SNP	ENST00000369604.1	37	c.399C>T	CCDS861.1																																																																																				0.363	PHTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032666.1	NM_006608		3	32	0	0	0	1	0	3	32				
NEUROD2	4761	broad.mit.edu	37	17	37762279	37762279	+	Silent	SNP	G	G	A			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr17:37762279G>A	ENST00000302584.4	-	2	794	c.574C>T	c.(574-576)Ctg>Ttg	p.L192L		NM_006160.3	NP_006151.3	Q15784	NDF2_HUMAN	neuronal differentiation 2	192					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|cellular response to calcium ion (GO:0071277)|cellular response to electrical stimulus (GO:0071257)|cerebellar cortex development (GO:0021695)|negative regulation of synapse maturation (GO:2000297)|nervous system development (GO:0007399)|neuron development (GO:0048666)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664)			CCCTTGCACAGAGTCTGCACG	0.627																																						ENST00000302584.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8						c.(574-576)Ctg>Ttg		neuronal differentiation 2							30.0	31.0	31.0					17																	37762279		2203	4300	6503	SO:0001819	synonymous_variant	4761				cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter	nucleus	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr17:37762279G>A	U58681	CCDS11338.1	17q12	2013-05-21	2012-02-22		ENSG00000171532	ENSG00000171532		"""Basic helix-loop-helix proteins"""	7763	protein-coding gene	gene with protein product		601725	"""neurogenic differentiation 2"""			9119405	Standard	XM_005257409		Approved	NDRF, bHLHa1	uc002hry.3	Q15784	OTTHUMG00000133211	ENST00000302584.4:c.574C>T	17.37:g.37762279G>A							p.L192L	NM_006160.3	NP_006151.3	Q15784	NDF2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664)		2	794	-	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		192					Q8TBI7|Q9UQC6	Silent	SNP	ENST00000302584.4	37	c.574C>T	CCDS11338.1																																																																																				0.627	NEUROD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256931.2	NM_006160		5	42	0	0	0	1	0	5	42				
TUBGCP4	27229	broad.mit.edu	37	15	43668716	43668716	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr15:43668716C>G	ENST00000260383.7	+	3	477	c.223C>G	c.(223-225)Caa>Gaa	p.Q75E	TUBGCP4_ENST00000570081.1_3'UTR|TUBGCP4_ENST00000399460.3_5'Flank|TUBGCP4_ENST00000564079.1_Missense_Mutation_p.Q75E			Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	75					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|spindle pole (GO:0000922)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		CCATCCATCTCAACAGGGCCA	0.473											OREG0023088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000564079.1																			0				breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21						c.(223-225)Caa>Gaa		tubulin, gamma complex associated protein 4							154.0	145.0	148.0					15																	43668716		1884	4122	6006	SO:0001583	missense	27229				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton	g.chr15:43668716C>G	AJ249677	CCDS42030.1, CCDS66745.1	15q15.3	2014-08-12			ENSG00000137822	ENSG00000137822			16691	protein-coding gene	gene with protein product		609610				10562286	Standard	NM_001286414		Approved	76P, FLJ14797	uc001zrn.3	Q9UGJ1	OTTHUMG00000176647	ENST00000260383.7:c.223C>G	15.37:g.43668716C>G	ENSP00000260383:p.Gln75Glu		OREG0023088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	918	TUBGCP4_ENST00000570081.1_3'UTR|TUBGCP4_ENST00000260383.7_Missense_Mutation_p.Q75E	p.Q75E	NM_014444.2	NP_055259.2	Q9UGJ1	GCP4_HUMAN		GBM - Glioblastoma multiforme(94;3.53e-07)	3	463	+		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)	75					B3KNK6|Q969X3|Q9NVF0	Missense_Mutation	SNP	ENST00000260383.7	37	c.223C>G		.	.	.	.	.	.	.	.	.	.	C	14.28	2.489136	0.44249	.	.	ENSG00000137822	ENST00000260383	T	0.39997	1.05	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.31327	0.0793	N	0.25647	0.755	0.80722	D	1	B;B	0.26258	0.145;0.119	B;B	0.30105	0.111;0.067	T	0.10086	-1.0645	10	0.02654	T	1	-16.6652	18.7035	0.91629	0.0:1.0:0.0:0.0	.	75;75	Q9UGJ1;Q9UGJ1-2	GCP4_HUMAN;.	E	75	ENSP00000260383:Q75E	ENSP00000260383:Q75E	Q	+	1	0	TUBGCP4	41456008	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.216000	0.77974	2.749000	0.94314	0.655000	0.94253	CAA		0.473	TUBGCP4-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000432970.1	NM_014444		10	60	0	0	0	1	0	10	60				
NPPB	4879	broad.mit.edu	37	1	11918436	11918436	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr1:11918436C>A	ENST00000376468.3	-	2	320	c.223G>T	c.(223-225)Ggt>Tgt	p.G75C		NM_002521.2	NP_002512.1	P16860	ANFB_HUMAN	natriuretic peptide B	75					body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|protein complex (GO:0043234)	diuretic hormone activity (GO:0008613)|hormone activity (GO:0005179)|receptor binding (GO:0005102)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	Carvedilol(DB01136)	TTCCAGACACCTGTGGGACGG	0.632																																						ENST00000376468.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11						c.(223-225)Ggt>Tgt		natriuretic peptide B	Carvedilol(DB01136)|Nesiritide(DB04899)|Testosterone(DB00624)						32.0	35.0	34.0					1																	11918436		2203	4300	6503	SO:0001583	missense	4879				body fluid secretion|cGMP biosynthetic process|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation	extracellular space	diuretic hormone activity	g.chr1:11918436C>A	BC025785	CCDS140.1	1p36.2	2014-01-30	2010-11-09		ENSG00000120937	ENSG00000120937		"""Endogenous ligands"""	7940	protein-coding gene	gene with protein product		600295	"""natriuretic peptide precursor B"""			2597152	Standard	NM_002521		Approved		uc001atj.3	P16860	OTTHUMG00000002389	ENST00000376468.3:c.223G>T	1.37:g.11918436C>A	ENSP00000365651:p.Gly75Cys						p.G75C	NM_002521.2	NP_002512.1	P16860	ANFB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	320	-	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	75					B0ZBE9|Q6FGY0|Q9P2Q7	Missense_Mutation	SNP	ENST00000376468.3	37	c.223G>T	CCDS140.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.637255	0.29157	.	.	ENSG00000120937	ENST00000376468	T	0.26810	1.71	4.31	1.18	0.20946	.	.	.	.	.	T	0.14874	0.0359	N	0.22421	0.69	0.09310	N	1	P	0.36944	0.574	B	0.33960	0.173	T	0.14980	-1.0453	9	0.72032	D	0.01	.	5.9717	0.19357	0.0:0.6157:0.0:0.3843	.	75	P16860	ANFB_HUMAN	C	75	ENSP00000365651:G75C	ENSP00000365651:G75C	G	-	1	0	NPPB	11841023	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.224000	0.09164	0.025000	0.15241	0.561000	0.74099	GGT		0.632	NPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006854.1	NM_002521		5	50	1	0	0.014758	1	0.0153729	5	50				
RANBP6	26953	broad.mit.edu	37	9	6014242	6014242	+	Missense_Mutation	SNP	G	G	A	rs201478375		TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr9:6014242G>A	ENST00000259569.5	-	1	1376	c.1366C>T	c.(1366-1368)Cgt>Tgt	p.R456C	RANBP6_ENST00000485372.1_5'UTR	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	456					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		TCCATGGTACGTAACAGAGCT	0.403																																						ENST00000259569.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(1366-1368)Cgt>Tgt		RAN binding protein 6							65.0	63.0	64.0					9																	6014242		2203	4300	6503	SO:0001583	missense	26953				protein transport	cytoplasm|nucleus	binding	g.chr9:6014242G>A	AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.1366C>T	9.37:g.6014242G>A	ENSP00000259569:p.Arg456Cys					RANBP6_ENST00000485372.1_5'UTR	p.R456C	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)	1	1376	-		Acute lymphoblastic leukemia(23;0.158)	456					Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	ENST00000259569.5	37	c.1366C>T	CCDS6467.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.314775	0.40996	.	.	ENSG00000137040	ENST00000259569	T	0.19105	2.17	4.21	4.21	0.49690	Armadillo-like helical (1);Armadillo-type fold (1);	0.253538	0.39985	N	0.001212	T	0.38904	0.1058	L	0.61036	1.89	0.44162	D	0.996964	D;D	0.61697	0.96;0.99	B;P	0.59595	0.101;0.86	T	0.17077	-1.0381	10	0.59425	D	0.04	-3.0535	14.8843	0.70555	0.0:0.0:1.0:0.0	.	44;456	B4DTX6;O60518	.;RNBP6_HUMAN	C	456	ENSP00000259569:R456C	ENSP00000259569:R456C	R	-	1	0	RANBP6	6004242	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.069000	0.71209	2.634000	0.89283	0.650000	0.86243	CGT		0.403	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416		4	49	0	0	0	1	0	4	49				
EXPH5	23086	broad.mit.edu	37	11	108381234	108381234	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr11:108381234T>A	ENST00000265843.4	-	6	5110	c.5000A>T	c.(4999-5001)aAg>aTg	p.K1667M	EXPH5_ENST00000443411.1_Missense_Mutation_p.K1479M|EXPH5_ENST00000428840.1_Missense_Mutation_p.K1591M|EXPH5_ENST00000525344.1_Missense_Mutation_p.K1660M|EXPH5_ENST00000524840.1_5'Flank	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1667					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CTCGGATTTCTTCACATGCTT	0.488																																						ENST00000265843.4																			0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91						c.(4999-5001)aAg>aTg		exophilin 5							225.0	217.0	220.0					11																	108381234		2201	4298	6499	SO:0001583	missense	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108381234T>A		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.5000A>T	11.37:g.108381234T>A	ENSP00000265843:p.Lys1667Met					EXPH5_ENST00000525344.1_Missense_Mutation_p.K1660M|EXPH5_ENST00000428840.1_Missense_Mutation_p.K1591M|EXPH5_ENST00000443411.1_Missense_Mutation_p.K1479M	p.K1667M	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	5110	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	1667					Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	c.5000A>T	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	T	13.85	2.359488	0.41801	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000526312	T;T;T;T;T	0.03301	4.21;4.13;3.98;4.21;4.06	5.72	2.04	0.26737	.	1.028680	0.07686	N	0.937886	T	0.02610	0.0079	N	0.08118	0	0.09310	N	1	P	0.48016	0.904	B	0.41202	0.35	T	0.48768	-0.9006	10	0.62326	D	0.03	-1.9883	7.3591	0.26735	0.0:0.3978:0.0:0.6021	.	1667	Q8NEV8	EXPH5_HUMAN	M	1667;1591;1479;1660;1591	ENSP00000265843:K1667M;ENSP00000391966:K1591M;ENSP00000411390:K1479M;ENSP00000432546:K1660M;ENSP00000432683:K1591M	ENSP00000265843:K1667M	K	-	2	0	EXPH5	107886444	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.241000	0.18065	0.497000	0.27926	-0.417000	0.06048	AAG		0.488	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		26	111	0	0	0	1	0	26	111				
KIF5B	3799	broad.mit.edu	37	10	32311168	32311168	+	Silent	SNP	C	C	T			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr10:32311168C>T	ENST00000302418.4	-	17	2389	c.1932G>A	c.(1930-1932)aaG>aaA	p.K644K	KIF5B_ENST00000493889.1_5'Flank	NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	644					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				CAGTCAATGACTTGATTTTGG	0.353			T	"""RET, ALK"""	NSCLC																																	ENST00000302418.4				Dom	yes		10	10p11.22	3799	T	kinesin family member 5B			E	"""RET, ALK"""		NSCLC	KIF5B/ALK(8)|KIF5B/RET(79)	0				NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35						c.(1930-1932)aaG>aaA		kinesin family member 5B							154.0	143.0	147.0					10																	32311168		2203	4300	6503	SO:0001819	synonymous_variant	3799				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity	g.chr10:32311168C>T	X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759		"""Kinesins"""	6324	protein-coding gene	gene with protein product		602809		KNS1		1607388	Standard	NM_004521		Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.1932G>A	10.37:g.32311168C>T							p.K644K	NM_004521.2	NP_004512.1	P33176	KINH_HUMAN			17	2389	-		Prostate(175;0.0137)	644					A0AVB2|Q5VZ85	Silent	SNP	ENST00000302418.4	37	c.1932G>A	CCDS7171.1																																																																																				0.353	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047467.1	NM_004521		4	42	0	0	0	1	0	4	42				
ANKRD42	338699	broad.mit.edu	37	11	82922403	82922403	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr11:82922403G>A	ENST00000393392.2	+	5	595	c.433G>A	c.(433-435)Ggc>Agc	p.G145S	ANKRD42_ENST00000526731.1_Missense_Mutation_p.G173S|ANKRD42_ENST00000260047.6_Missense_Mutation_p.G172S|ANKRD42_ENST00000531895.1_Missense_Mutation_p.G173S|ANKRD42_ENST00000528722.1_Missense_Mutation_p.G60S|ANKRD42_ENST00000393389.3_Missense_Mutation_p.G173S|ANKRD42_ENST00000533342.1_Missense_Mutation_p.G173S|RP11-727A23.7_ENST00000531869.1_RNA	NM_182603.2	NP_872409.2	Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	145					positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						TGGGCGGCTTGGCTGCTTGCA	0.403																																						ENST00000393389.3																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						c.(517-519)Ggc>Agc		ankyrin repeat domain 42							159.0	150.0	154.0					11																	82922403		2203	4300	6503	SO:0001583	missense	338699							g.chr11:82922403G>A	AK095193	CCDS8265.1, CCDS73355.1, CCDS73356.1	11q14.1	2014-06-12			ENSG00000137494	ENSG00000137494		"""Ankyrin repeat domain containing"""	26752	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 79"""						Standard	XM_005273971		Approved	FLJ37874, SARP, PPP1R79	uc001ozz.1	Q8N9B4	OTTHUMG00000167075	ENST00000393392.2:c.433G>A	11.37:g.82922403G>A	ENSP00000377051:p.Gly145Ser					ANKRD42_ENST00000526731.1_Missense_Mutation_p.G173S|ANKRD42_ENST00000528722.1_Missense_Mutation_p.G60S|ANKRD42_ENST00000260047.6_Missense_Mutation_p.G172S|ANKRD42_ENST00000393392.2_Missense_Mutation_p.G145S|ANKRD42_ENST00000533342.1_Missense_Mutation_p.G173S|RP11-727A23.7_ENST00000531869.1_RNA|ANKRD42_ENST00000531895.1_Missense_Mutation_p.G173S	p.G173S			Q8N9B4	ANR42_HUMAN			5	1449	+			145					Q49A49	Missense_Mutation	SNP	ENST00000393392.2	37	c.517G>A	CCDS8265.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.748564	0.89753	.	.	ENSG00000137494	ENST00000545672;ENST00000393389;ENST00000528722;ENST00000260047;ENST00000526731;ENST00000531895;ENST00000393392;ENST00000533342	T;T;T;T;T;T;T	0.63417	0.02;-0.0;-0.04;0.02;-0.04;-0.04;-0.04	5.85	5.85	0.93711	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000003	T	0.68118	0.2966	N	0.17901	0.54	0.49582	D	0.999801	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.995;0.998;0.998;0.997;1.0	T	0.65397	-0.6178	9	.	.	.	-7.0723	18.9321	0.92570	0.0:0.0:1.0:0.0	.	173;173;437;264;145	E9PIL2;Q8N9B4-2;A1DRY3;A1XPJ0;Q8N9B4	.;.;.;.;ANR42_HUMAN	S	492;173;60;172;173;173;145;173	ENSP00000377049:G173S;ENSP00000432375:G60S;ENSP00000260047:G172S;ENSP00000433585:G173S;ENSP00000434666:G173S;ENSP00000377051:G145S;ENSP00000435790:G173S	.	G	+	1	0	ANKRD42	82600051	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	6.690000	0.74567	2.772000	0.95346	0.650000	0.86243	GGC		0.403	ANKRD42-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000392934.1	NM_182603		4	52	0	0	0	1	0	4	52				
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		1582	Substitution - Missense(1582)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(3139-3141)cAt>cGt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							99.0	89.0	92.0					3																	178952085		1912	4130	6042	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952085A>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.H1047R	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3297	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1047		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3140A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			9	40	0	0	0	1	0	9	40				
HIP1R	9026	broad.mit.edu	37	12	123344033	123344033	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr12:123344033G>A	ENST00000253083.4	+	23	2481	c.2356G>A	c.(2356-2358)Gag>Aag	p.E786K		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	786	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				receptor-mediated endocytosis (GO:0006898)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)	phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		GGTCGACAAGGAGATGGCGGC	0.622																																						ENST00000253083.4																			0				breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26						c.(2356-2358)Gag>Aag		huntingtin interacting protein 1 related							44.0	48.0	47.0					12																	123344033		2203	4300	6503	SO:0001583	missense	9026				receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding	g.chr12:123344033G>A	AB013384	CCDS31922.1	12q24	2007-12-07			ENSG00000130787	ENSG00000130787			18415	protein-coding gene	gene with protein product		605613				16415883	Standard	NM_003959		Approved	KIAA0655, HIP3, HIP12, FLJ14000, ILWEQ	uc001udj.1	O75146	OTTHUMG00000168765	ENST00000253083.4:c.2356G>A	12.37:g.123344033G>A	ENSP00000253083:p.Glu786Lys						p.E786K	NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)	23	2481	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		786			I/LWEQ.		A6NHQ6|Q6NXG8|Q9UED9	Missense_Mutation	SNP	ENST00000253083.4	37	c.2356G>A	CCDS31922.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.027916	0.93518	.	.	ENSG00000130787	ENST00000253083	T	0.37411	1.2	5.39	5.39	0.77823	I/LWEQ (2);	0.000000	0.85682	D	0.000000	T	0.66406	0.2786	M	0.87758	2.905	0.80722	D	1	D	0.76494	0.999	D	0.69824	0.966	T	0.72054	-0.4406	10	0.62326	D	0.03	-40.9228	18.7556	0.91832	0.0:0.0:1.0:0.0	.	786	O75146	HIP1R_HUMAN	K	786	ENSP00000253083:E786K	ENSP00000253083:E786K	E	+	1	0	HIP1R	121909986	1.000000	0.71417	1.000000	0.80357	0.334000	0.28698	9.858000	0.99539	2.517000	0.84864	0.561000	0.74099	GAG		0.622	HIP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400935.1	NM_003959		10	48	0	0	0	1	0	10	48				
BRWD1	54014	broad.mit.edu	37	21	40650738	40650738	+	Splice_Site	SNP	G	G	A			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr21:40650738G>A	ENST00000333229.2	-	10	1261	c.934C>T	c.(934-936)Cca>Tca	p.P312S	BRWD1_ENST00000380800.3_Splice_Site_p.P312S|BRWD1_ENST00000342449.3_Splice_Site_p.P312S	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	312					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				AGGGGACGTGGGCTTTAAAAG	0.308																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000342449.3																			0				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58						c.e10-1		bromodomain and WD repeat domain containing 1							77.0	84.0	82.0					21																	40650738		2203	4300	6503	SO:0001630	splice_region_variant	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40650738G>A	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.933-1C>T	21.37:g.40650738G>A						BRWD1_ENST00000380800.3_Splice_Site_p.P312_splice|BRWD1_ENST00000333229.2_Splice_Site_p.P312_splice	p.P312_splice	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN			10	1012	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	312					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Splice_Site	SNP	ENST00000333229.2	37	c.932_splice	CCDS13662.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.33|10.33	1.321750|1.321750	0.23994|0.23994	.|.	.|.	ENSG00000185658|ENSG00000185658	ENST00000455867|ENST00000333229;ENST00000342449;ENST00000380800	.|T;T;T	.|0.17854	.|2.25;2.25;2.25	5.1|5.1	3.09|3.09	0.35607|0.35607	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.376739|0.376739	0.21210|0.21210	N|N	0.078335|0.078335	T|T	0.10981|0.10981	0.0268|0.0268	N|N	0.16903|0.16903	0.455|0.455	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.25206	.|0.004;0.12;0.011	.|B;B;B	.|0.35727	.|0.011;0.209;0.005	T|T	0.15263|0.15263	-1.0443|-1.0443	6|10	.|0.14252	.|T	.|0.57	.|.	7.9827|7.9827	0.30194|0.30194	0.0935:0.0:0.6678:0.2387|0.0935:0.0:0.6678:0.2387	.|.	.|23;312;312	.|Q5R2U6;Q9NSI6-2;Q9NSI6	.|.;.;BRWD1_HUMAN	L|S	23|312	.|ENSP00000330753:P312S;ENSP00000344333:P312S;ENSP00000370178:P312S	.|ENSP00000330753:P312S	P|P	-|-	2|1	0|0	BRWD1|BRWD1	39572608|39572608	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.953000|0.953000	0.61014|0.61014	1.143000|1.143000	0.31553|0.31553	1.134000|1.134000	0.42165|0.42165	0.591000|0.591000	0.81541|0.81541	CCC|CCA		0.308	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656	Missense_Mutation	4	52	0	0	0	1	0	4	52				
TRIM54	57159	broad.mit.edu	37	2	27521506	27521506	+	Silent	SNP	G	G	A	rs540676343		TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr2:27521506G>A	ENST00000380075.2	+	2	580	c.240G>A	c.(238-240)tcG>tcA	p.S80S	TRIM54_ENST00000296098.4_Silent_p.S80S	NM_187841.2	NP_912730.2	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	80					cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|negative regulation of microtubule depolymerization (GO:0007026)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGCCCATCGTGCAGGCATG	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		19839	0.0		0.0	False		,,,				2504	0.001					ENST00000296098.4																			0				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(238-240)tcG>tcA		tripartite motif containing 54							85.0	70.0	75.0					2																	27521506		2203	4300	6503	SO:0001819	synonymous_variant	57159				cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding	g.chr2:27521506G>A	AJ291714	CCDS1745.2, CCDS1746.2	2p23.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000138100	ENSG00000138100		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16008	protein-coding gene	gene with protein product		606474	"""ring finger protein 30"", ""tripartite motif-containing 54"""	RNF30		11243782	Standard	NM_032546		Approved	MURF, MURF-3	uc002rjn.3	Q9BYV2	OTTHUMG00000097078	ENST00000380075.2:c.240G>A	2.37:g.27521506G>A						TRIM54_ENST00000380075.2_Silent_p.S80S	p.S80S	NM_032546.3	NP_115935.3	Q9BYV2	TRI54_HUMAN			2	510	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		80					A5D8T7|Q53SY4|Q9BYV3	Silent	SNP	ENST00000380075.2	37	c.240G>A	CCDS1746.2																																																																																				0.567	TRIM54-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214199.2	NM_187841		5	45	0	0	0	1	0	5	45				
RUNX1T1	862	broad.mit.edu	37	8	93017372	93017372	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr8:93017372C>T	ENST00000523629.1	-	6	1166	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K	RUNX1T1_ENST00000422361.2_Missense_Mutation_p.E201K|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.E201K|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.E211K|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.E238K|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.E249K|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.E201K|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.E201K|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.E211K	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	238					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E238K(1)|p.E201K(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TTCCCGTTTTCGTTCACATCG	0.542																																						ENST00000523629.1																			2	Substitution - Missense(2)	p.E238K(1)|p.E201K(1)	NS(2)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86						c.(712-714)Gaa>Aaa		runt-related transcription factor 1; translocated to, 1 (cyclin D-related)							175.0	157.0	163.0					8																	93017372		2203	4300	6503	SO:0001583	missense	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:93017372C>T	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.712G>A	8.37:g.93017372C>T	ENSP00000428543:p.Glu238Lys					RUNX1T1_ENST00000518844.1_Missense_Mutation_p.E211K|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.E201K|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.E249K|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.E211K|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.E201K|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.E238K|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.E201K|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.E201K	p.E238K	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		6	1166	-			238					B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	c.712G>A	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	C	35	5.590394	0.96590	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844;ENST00000521553	T;T;T;T;T;T;T;T;T	0.55234	1.1;1.12;1.1;1.13;1.13;1.13;1.09;1.12;0.53	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.72787	0.3504	M	0.77616	2.38	0.80722	D	1	D;P;D	0.64830	0.958;0.755;0.994	P;B;D	0.63597	0.449;0.189;0.916	T	0.71293	-0.4636	10	0.39692	T	0.17	-13.4368	19.7501	0.96265	0.0:1.0:0.0:0.0	.	249;238;211	E7EPN4;Q06455;Q06455-2	.;MTG8_HUMAN;.	K	238;211;238;201;201;201;249;211;201	ENSP00000428543:E238K;ENSP00000379520:E211K;ENSP00000265814:E238K;ENSP00000353504:E201K;ENSP00000390137:E201K;ENSP00000428742:E201K;ENSP00000402257:E249K;ENSP00000430728:E211K;ENSP00000429728:E201K	ENSP00000265814:E238K	E	-	1	0	RUNX1T1	93086548	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.999000	0.70665	2.672000	0.90937	0.655000	0.94253	GAA		0.542	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		9	131	0	0	0	1	0	9	131				
GGT3P	2679	broad.mit.edu	37	22	18769145	18769145	+	RNA	SNP	G	G	A	rs200209148	byFrequency	TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr22:18769145G>A	ENST00000412448.1	-	0	1141							A6NGU5	GGT3_HUMAN	gamma-glutamyltransferase 3 pseudogene						glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)										TGAGGCTGCCGTTGTAGAAGG	0.612																																						ENST00000412448.1																			0																																																			2679							g.chr22:18769145G>A			22q11.21	2008-08-05	2008-03-10	2008-03-10	ENSG00000197421	ENSG00000197421		"""Gamma-glutamyltransferases"""	4252	pseudogene	pseudogene			"""gamma-glutamyltransferase 3"""	GGT3		8104871, 18357469	Standard	NR_003267		Approved		uc002zob.1	A6NGU5	OTTHUMG00000150161		22.37:g.18769145G>A														0	1141	-									RNA	SNP	ENST00000412448.1	37																																																																																						0.612	GGT3P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341281.1	NR_003267		6	40	0	0	0	1	0	6	40				
GMDS	2762	broad.mit.edu	37	6	1930368	1930368	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr6:1930368C>T	ENST00000380815.4	-	7	1009	c.740G>A	c.(739-741)cGa>cAa	p.R247Q	GMDS_ENST00000530927.1_Missense_Mutation_p.R217Q	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	247					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|GDP-mannose metabolic process (GO:0019673)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	GDP-mannose 4,6-dehydratase activity (GO:0008446)|NADP+ binding (GO:0070401)		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		GCCCCAATCTCGTTTGGCATC	0.418																																						ENST00000380815.4																		GMDS/PDE8B(2)	0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21						c.(739-741)cGa>cAa		GDP-mannose 4,6-dehydratase							146.0	127.0	134.0					6																	1930368		2203	4300	6503	SO:0001583	missense	2762				'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity	g.chr6:1930368C>T	AF042377	CCDS4474.1, CCDS58994.1	6p25	2011-09-14			ENSG00000112699	ENSG00000112699	4.2.1.47	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	4369	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 3E, member 1"""	602884				9525924, 19027726	Standard	NM_001500		Approved	GMD, SDR3E1	uc003mtq.3	O60547	OTTHUMG00000016143	ENST00000380815.4:c.740G>A	6.37:g.1930368C>T	ENSP00000370194:p.Arg247Gln					GMDS_ENST00000530927.1_Missense_Mutation_p.R217Q	p.R247Q	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)	7	1009	-	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)	247					E9PI88|O75357|Q5T954|Q6FH09|Q9UGZ3|Q9UJK9	Missense_Mutation	SNP	ENST00000380815.4	37	c.740G>A	CCDS4474.1	.	.	.	.	.	.	.	.	.	.	C	34	5.357515	0.95854	.	.	ENSG00000112699	ENST00000530927;ENST00000380815	D;D	0.98075	-4.7;-4.7	5.63	5.63	0.86233	NAD-dependent epimerase/dehydratase (1);	0.000000	0.85682	D	0.000000	D	0.99223	0.9730	H	0.96489	3.83	0.80722	D	1	D	0.89917	1.0	D	0.68765	0.96	D	0.99116	1.0848	10	0.87932	D	0	-5.5002	19.6914	0.96002	0.0:1.0:0.0:0.0	.	247	O60547	GMDS_HUMAN	Q	217;247	ENSP00000436726:R217Q;ENSP00000370194:R247Q	ENSP00000370194:R247Q	R	-	2	0	GMDS	1875367	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.487000	0.81328	2.644000	0.89710	0.563000	0.77884	CGA		0.418	GMDS-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043380.3			8	56	0	0	0	1	0	8	56				
CAPN6	827	broad.mit.edu	37	X	110491150	110491150	+	Missense_Mutation	SNP	G	G	C	rs369793546		TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chrX:110491150G>C	ENST00000324068.1	-	11	1722	c.1555C>G	c.(1555-1557)Cag>Gag	p.Q519E	CAPN6_ENST00000541758.1_Missense_Mutation_p.Q264E	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	519	C2.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						ACAGTGATCTGAGTAACTACT	0.428																																						ENST00000324068.1																			0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						c.(1555-1557)Cag>Gag		calpain 6		G	GLU/GLN	0,3835		0,0,0,1632,571	182.0	162.0	169.0		1555	5.6	1.0	X		169	1,6727		0,0,1,2428,1871	no	missense	CAPN6	NM_014289.3	29	0,0,1,4060,2442	CC,CG,C,GG,G		0.0149,0.0,0.0095	possibly-damaging	519/642	110491150	1,10562	2203	4300	6503	SO:0001583	missense	827				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	g.chrX:110491150G>C	AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.1555C>G	X.37:g.110491150G>C	ENSP00000317214:p.Gln519Glu					CAPN6_ENST00000541758.1_Missense_Mutation_p.Q264E	p.Q519E	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN			11	1722	-			519			C2.		D3DUY7|Q9UEQ1|Q9UJA8	Missense_Mutation	SNP	ENST00000324068.1	37	c.1555C>G	CCDS14555.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.400400	0.83120	0.0	1.49E-4	ENSG00000077274	ENST00000324068;ENST00000541758	T;T	0.67345	-0.26;-0.26	5.61	5.61	0.85477	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.719694	0.13110	N	0.413038	T	0.79992	0.4542	M	0.67397	2.05	0.58432	D	0.999996	D	0.60160	0.987	P	0.62885	0.908	T	0.79024	-0.1972	10	0.62326	D	0.03	.	16.063	0.80852	0.0:0.0:1.0:0.0	.	519	Q9Y6Q1	CAN6_HUMAN	E	519;264	ENSP00000317214:Q519E;ENSP00000441736:Q264E	ENSP00000317214:Q519E	Q	-	1	0	CAPN6	110377806	1.000000	0.71417	0.996000	0.52242	0.561000	0.35649	5.677000	0.68142	2.482000	0.83794	0.600000	0.82982	CAG		0.428	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1			17	121	0	0	0	1	0	17	121				
LAMA5	3911	broad.mit.edu	37	20	60890184	60890184	+	Silent	SNP	C	C	T			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr20:60890184C>T	ENST00000252999.3	-	59	8013	c.7947G>A	c.(7945-7947)caG>caA	p.Q2649Q		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2649	Domain II and I.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			TGGCCTGCAGCTGGGACTGCA	0.662																																						ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(7945-7947)caG>caA		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						35.0	38.0	37.0					20																	60890184		2200	4292	6492	SO:0001819	synonymous_variant	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60890184C>T	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.7947G>A	20.37:g.60890184C>T							p.Q2649Q	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		59	8013	-	Breast(26;1.57e-08)		2649			Domain II and I.		Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	ENST00000252999.3	37	c.7947G>A	CCDS33502.1																																																																																				0.662	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		5	25	0	0	0	1	0	5	25				
MAP1A	4130	broad.mit.edu	37	15	43820734	43820734	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr15:43820734G>A	ENST00000300231.5	+	4	7513	c.7063G>A	c.(7063-7065)Gag>Aag	p.E2355K	MAP1A_ENST00000399453.1_Missense_Mutation_p.E2355K|MAP1A_ENST00000382031.1_Missense_Mutation_p.E2593K			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2355					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GGTTCCCTCTGAGGATTGTGC	0.627																																						ENST00000382031.1																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66						c.(7777-7779)Gag>Aag		microtubule-associated protein 1A	Estramustine(DB01196)						29.0	32.0	31.0					15																	43820734		2011	4171	6182	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43820734G>A	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.7063G>A	15.37:g.43820734G>A	ENSP00000300231:p.Glu2355Lys					MAP1A_ENST00000300231.5_Missense_Mutation_p.E2355K|MAP1A_ENST00000399453.1_Missense_Mutation_p.E2355K	p.E2593K			P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	5	7808	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	2355					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.7777G>A	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	G	0.300	-0.974252	0.02215	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01414	4.92;4.92;4.92	4.32	2.24	0.28232	.	0.239237	0.21847	N	0.068224	T	0.01029	0.0034	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.48875	-0.8996	10	0.13853	T	0.58	-4.3907	11.0213	0.47720	0.2401:0.0:0.7599:0.0	.	2355	P78559	MAP1A_HUMAN	K	2593;2355;2355	ENSP00000371462:E2593K;ENSP00000382380:E2355K;ENSP00000300231:E2355K	ENSP00000300231:E2355K	E	+	1	0	MAP1A	41608026	0.475000	0.25894	0.317000	0.25265	0.088000	0.18126	1.034000	0.30204	1.028000	0.39785	0.561000	0.74099	GAG		0.627	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		6	49	0	0	0	1	0	6	49				
CPA6	57094	broad.mit.edu	37	8	68419123	68419123	+	Splice_Site	SNP	G	G	C			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr8:68419123G>C	ENST00000297770.4	-	6	750	c.535C>G	c.(535-537)Ctg>Gtg	p.L179V	CPA6_ENST00000297769.4_Splice_Site_p.L31V|CPA6_ENST00000518549.1_Splice_Site_p.L179V	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	179						proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			CGTCTGCCCAGCTGAAAACAA	0.408																																						ENST00000297770.4																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26						c.e6-1		carboxypeptidase A6							128.0	110.0	116.0					8																	68419123		2203	4300	6503	SO:0001630	splice_region_variant	57094				proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr8:68419123G>C	AF221594	CCDS6200.1	8q12.3	2012-02-10			ENSG00000165078	ENSG00000165078			17245	protein-coding gene	gene with protein product		609562				11836249	Standard	NM_020361		Approved	CPAH	uc003xxq.4	Q8N4T0	OTTHUMG00000164575	ENST00000297770.4:c.535-1C>G	8.37:g.68419123G>C						CPA6_ENST00000518549.1_Splice_Site_p.L179_splice|CPA6_ENST00000297769.4_Splice_Site_p.L31_splice	p.L179_splice	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)		6	750	-			179					Q8NEX8|Q8TDE8|Q9NRI9	Splice_Site	SNP	ENST00000297770.4	37	c.534_splice	CCDS6200.1	.	.	.	.	.	.	.	.	.	.	G	8.755	0.922279	0.17982	.	.	ENSG00000165078	ENST00000297769;ENST00000297770;ENST00000518549	T;T;T	0.09163	3.01;3.01;3.01	5.31	5.31	0.75309	Peptidase M14, carboxypeptidase A (2);	0.234830	0.36972	N	0.002312	T	0.10551	0.0258	L	0.32530	0.975	0.51767	D	0.999933	D;P;B	0.52996	0.957;0.734;0.019	P;B;B	0.45712	0.491;0.203;0.023	T	0.21895	-1.0232	10	0.20046	T	0.44	.	12.0065	0.53261	0.08:0.0:0.92:0.0	.	179;31;179	Q8N4T0-2;Q8N4T0-3;Q8N4T0	.;.;CBPA6_HUMAN	V	31;179;179	ENSP00000297769:L31V;ENSP00000297770:L179V;ENSP00000431112:L179V	ENSP00000297769:L31V	L	-	1	2	CPA6	68581677	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.948000	0.40303	2.474000	0.83562	0.655000	0.94253	CTG		0.408	CPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379296.2	NM_020361	Missense_Mutation	5	49	0	0	0	1	0	5	49				
KIAA1841	84542	broad.mit.edu	37	2	61336370	61336370	+	Silent	SNP	C	C	G			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr2:61336370C>G	ENST00000402291.1	+	16	1924	c.1683C>G	c.(1681-1683)acC>acG	p.T561T	KIAA1841_ENST00000356719.2_Silent_p.T561T|KIAA1841_ENST00000453873.1_Silent_p.T561T|KIAA1841_ENST00000295031.5_Silent_p.T561T	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	561										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			AAGAATATACCACTGGATCTG	0.274																																						ENST00000402291.1																			0				breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25						c.(1681-1683)acC>acG		KIAA1841							101.0	113.0	109.0					2																	61336370		2203	4300	6503	SO:0001819	synonymous_variant	84542							g.chr2:61336370C>G	BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929			29387	protein-coding gene	gene with protein product						11347906	Standard	NM_032506		Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000402291.1:c.1683C>G	2.37:g.61336370C>G						KIAA1841_ENST00000356719.2_Silent_p.T561T|KIAA1841_ENST00000295031.5_Silent_p.T561T|KIAA1841_ENST00000453873.1_Silent_p.T561T	p.T561T	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	Epithelial(17;0.193)		16	1924	+			561					Q49AF0|Q6ZND0|Q96JI6	Silent	SNP	ENST00000402291.1	37	c.1683C>G	CCDS46296.1																																																																																				0.274	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325477.1	NM_032506		4	65	0	0	0	1	0	4	65				
GET4	51608	broad.mit.edu	37	7	927057	927057	+	Missense_Mutation	SNP	G	G	A	rs573133720		TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr7:927057G>A	ENST00000265857.3	+	4	461	c.367G>A	c.(367-369)Gtg>Atg	p.V123M	GET4_ENST00000407192.1_Missense_Mutation_p.V70M|RP11-449P15.2_ENST00000609998.1_RNA	NM_015949.2	NP_057033.2	Q7L5D6	GET4_HUMAN	golgi to ER traffic protein 4 homolog (S. cerevisiae)	123					tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)				breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TCCTGAGCGCGTGACCTTTGT	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		17464	0.001		0.0	False		,,,				2504	0.0					ENST00000407192.1																			0				breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(208-210)Gtg>Atg		golgi to ER traffic protein 4 homolog (S. cerevisiae)							123.0	111.0	115.0					7																	927057		2203	4300	6503	SO:0001583	missense	51608				tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	protein binding	g.chr7:927057G>A	AK023560	CCDS5317.1	7p22.3	2010-08-05	2010-03-24	2010-03-24	ENSG00000239857	ENSG00000239857			21690	protein-coding gene	gene with protein product	"""CGI-20 protein"", ""conserved edge protein"", ""transmembrane domain recognition complex, 35kDa"""	612056	"""chromosome 7 open reading frame 20"""	C7orf20		10810093, 20106980, 20676083	Standard	NM_015949		Approved	CGI-20, H_NH1244M04.5, CEE, TRC35	uc003sjl.1	Q7L5D6	OTTHUMG00000112459	ENST00000265857.3:c.367G>A	7.37:g.927057G>A	ENSP00000265857:p.Val123Met					GET4_ENST00000265857.3_Missense_Mutation_p.V123M	p.V70M			Q7L5D6	GET4_HUMAN			3	2725	+			123					A4D2Q1|B3KNC7|Q9UFC9|Q9Y309	Missense_Mutation	SNP	ENST00000265857.3	37	c.208G>A	CCDS5317.1	.	.	.	.	.	.	.	.	.	.	g	17.05	3.291170	0.59976	.	.	ENSG00000239857	ENST00000265857;ENST00000412734;ENST00000407192;ENST00000441491;ENST00000426056	.	.	.	5.41	5.41	0.78517	.	0.053894	0.64402	D	0.000001	T	0.45975	0.1369	N	0.21448	0.665	0.80722	D	1	B	0.33266	0.404	B	0.28305	0.088	T	0.45234	-0.9275	9	0.46703	T	0.11	-31.064	19.2092	0.93747	0.0:0.0:1.0:0.0	.	123	Q7L5D6	GET4_HUMAN	M	123;77;70;135;84	.	ENSP00000265857:V123M	V	+	1	0	GET4	893583	1.000000	0.71417	0.951000	0.38953	0.915000	0.54546	7.691000	0.84191	2.550000	0.86006	0.556000	0.70494	GTG		0.622	GET4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000231930.1	NM_015949		21	73	0	0	0	1	0	21	73				
LINGO2	158038	broad.mit.edu	37	9	27949108	27949108	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr9:27949108G>T	ENST00000379992.2	-	6	2011	c.1562C>A	c.(1561-1563)tCc>tAc	p.S521Y	LINGO2_ENST00000308675.3_Missense_Mutation_p.S521Y	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	521						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GGTGTCATTGGAGTCGGTCAT	0.463																																						ENST00000379992.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1561-1563)tCc>tAc		leucine rich repeat and Ig domain containing 2							174.0	164.0	168.0					9																	27949108		2203	4300	6503	SO:0001583	missense	158038					integral to membrane		g.chr9:27949108G>T	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.1562C>A	9.37:g.27949108G>T	ENSP00000369328:p.Ser521Tyr					LINGO2_ENST00000308675.3_Missense_Mutation_p.S521Y	p.S521Y	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)	6	2011	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	521					A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	ENST00000379992.2	37	c.1562C>A	CCDS6524.1	.	.	.	.	.	.	.	.	.	.	G	0.032	-1.330816	0.01298	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	T;T	0.58940	0.3;0.3	5.83	5.83	0.93111	.	0.115350	0.64402	D	0.000008	T	0.36744	0.0978	N	0.08118	0	0.43622	D	0.996007	B	0.09022	0.002	B	0.09377	0.004	T	0.23583	-1.0184	9	.	.	.	.	14.9014	0.70681	0.0:0.0:0.8568:0.1432	.	521	Q7L985	LIGO2_HUMAN	Y	521	ENSP00000369328:S521Y;ENSP00000310126:S521Y	.	S	-	2	0	LINGO2	27939108	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.692000	0.74578	2.769000	0.95229	0.655000	0.94253	TCC		0.463	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570		49	81	1	0	1.22102e-19	1	1.38752e-19	49	81				
YLPM1	56252	broad.mit.edu	37	14	75264903	75264903	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr14:75264903G>C	ENST00000325680.7	+	5	3027	c.2903G>C	c.(2902-2904)gGa>gCa	p.G968A	YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Missense_Mutation_p.G773A	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	773	Arg-rich.				regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		ATGGAGGGAGGAACAGCAGTA	0.453																																						ENST00000325680.7																			0				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62						c.(2902-2904)gGa>gCa		YLP motif containing 1							91.0	93.0	92.0					14																	75264903		1941	4144	6085	SO:0001583	missense	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75264903G>C	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000325680.7:c.2903G>C	14.37:g.75264903G>C	ENSP00000324463:p.Gly968Ala					YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Missense_Mutation_p.G773A	p.G968A	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	5	3027	+			773			Arg-rich.		P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000325680.7	37	c.2903G>C	CCDS45135.1	.	.	.	.	.	.	.	.	.	.	G	2.098	-0.406697	0.04832	.	.	ENSG00000119596	ENST00000325680;ENST00000238571;ENST00000423680	.	.	.	5.34	3.52	0.40303	.	0.087086	0.49916	N	0.000125	T	0.44540	0.1298	L	0.51422	1.61	0.27981	N	0.93603	B	0.28971	0.229	B	0.35278	0.199	T	0.33879	-0.9851	9	0.32370	T	0.25	-3.119	12.3159	0.54955	0.0695:0.1223:0.8082:0.0	.	968	P49750-4	.	A	968;773;681	.	ENSP00000238571:G773A	G	+	2	0	YLPM1	74334656	0.992000	0.36948	0.975000	0.42487	0.755000	0.42902	0.544000	0.23253	0.340000	0.23745	-0.836000	0.03065	GGA		0.453	YLPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404451.1	NM_019589		4	63	0	0	0	1	0	4	63				
UNC79	57578	broad.mit.edu	37	14	94088832	94088832	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr14:94088832G>T	ENST00000393151.2	+	30	5253	c.5253G>T	c.(5251-5253)caG>caT	p.Q1751H	UNC79_ENST00000553484.1_Missense_Mutation_p.Q1773H|UNC79_ENST00000256339.4_Missense_Mutation_p.Q1574H|UNC79_ENST00000555664.1_Missense_Mutation_p.Q1751H			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1751					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ACCTCCTTCAGAAGTCGTTTG	0.577																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(5317-5319)caG>caT		unc-79 homolog (C. elegans)							65.0	68.0	67.0					14																	94088832		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94088832G>T	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.5253G>T	14.37:g.94088832G>T	ENSP00000376858:p.Gln1751His					UNC79_ENST00000256339.4_Missense_Mutation_p.Q1574H|UNC79_ENST00000555664.1_Missense_Mutation_p.Q1751H|UNC79_ENST00000393151.2_Missense_Mutation_p.Q1751H	p.Q1773H			Q9P2D8	UNC79_HUMAN			31	5473	+			1751					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.5319G>T		.	.	.	.	.	.	.	.	.	.	G	11.25	1.583795	0.28268	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.19669	2.15;2.13;2.15;2.15	5.41	5.41	0.78517	.	0.141227	0.50627	D	0.000106	T	0.22282	0.0537	N	0.24115	0.695	0.36546	D	0.871571	P	0.46220	0.874	P	0.48141	0.568	T	0.10405	-1.0631	10	0.66056	D	0.02	-16.9433	14.7514	0.69528	0.0:0.1444:0.8556:0.0	.	1773	C9JQL1	.	H	1574;1751;1773;1751;1773	ENSP00000256339:Q1574H;ENSP00000450868:Q1751H;ENSP00000451360:Q1773H;ENSP00000376858:Q1751H	ENSP00000256339:Q1574H	Q	+	3	2	KIAA1409	93158585	1.000000	0.71417	1.000000	0.80357	0.555000	0.35460	2.477000	0.45180	2.543000	0.85770	0.305000	0.20034	CAG		0.577	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		8	92	1	0	0.0477658	1	0.049243	8	92				
ENAM	10117	broad.mit.edu	37	4	71510180	71510180	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr4:71510180G>A	ENST00000396073.3	+	9	3318	c.3037G>A	c.(3037-3039)Gac>Aac	p.D1013N	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	1013					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AAGAACTGTTGACCTTACTCC	0.418																																						ENST00000396073.3																			0				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6						c.(3037-3039)Gac>Aac		enamelin							123.0	111.0	115.0					4																	71510180		2203	4300	6503	SO:0001583	missense	10117				bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chr4:71510180G>A	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.3037G>A	4.37:g.71510180G>A	ENSP00000379383:p.Asp1013Asn					ENAM_ENST00000472903.1_Intron	p.D1013N	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)		9	3318	+			1013					Q17RI5|Q9H3D1	Missense_Mutation	SNP	ENST00000396073.3	37	c.3037G>A	CCDS3544.2	.	.	.	.	.	.	.	.	.	.	G	3.855	-0.031012	0.07543	.	.	ENSG00000132464	ENST00000396073	T	0.29655	1.56	5.97	3.95	0.45737	.	1.044850	0.07502	N	0.907459	T	0.27594	0.0678	L	0.45228	1.405	0.09310	N	1	P	0.38535	0.635	B	0.41088	0.347	T	0.08310	-1.0728	10	0.07175	T	0.84	-1.6173	9.0356	0.36284	0.1903:0.0:0.8097:0.0	.	1013	Q9NRM1	ENAM_HUMAN	N	1013	ENSP00000379383:D1013N	ENSP00000379383:D1013N	D	+	1	0	ENAM	71729044	0.003000	0.15002	0.707000	0.30419	0.371000	0.29859	1.110000	0.31147	1.541000	0.49316	0.655000	0.94253	GAC		0.418	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		9	62	0	0	0	1	0	9	62				
ATP7A	538	broad.mit.edu	37	X	77287021	77287021	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chrX:77287021A>G	ENST00000341514.6	+	16	3390	c.3235A>G	c.(3235-3237)Act>Gct	p.T1079A	ATP7A_ENST00000350425.4_Missense_Mutation_p.T82A|ATP7A_ENST00000343533.5_Missense_Mutation_p.T1001A	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1079					blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	CATTGTGGGAACTGCTGAAAG	0.398																																						ENST00000341514.6																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						c.(3235-3237)Act>Gct		ATPase, Cu++ transporting, alpha polypeptide							187.0	178.0	181.0					X																	77287021		2203	4298	6501	SO:0001583	missense	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77287021A>G	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.3235A>G	X.37:g.77287021A>G	ENSP00000345728:p.Thr1079Ala					ATP7A_ENST00000350425.4_Missense_Mutation_p.T82A|ATP7A_ENST00000343533.5_Missense_Mutation_p.T1001A	p.T1079A	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN			16	3390	+			1079					B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	c.3235A>G	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	A	17.23	3.336049	0.60963	.	.	ENSG00000165240	ENST00000343533;ENST00000350425;ENST00000341514	D;D;D	0.94966	-3.57;-3.57;-3.57	5.69	5.69	0.88448	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.92107	0.7498	N	0.02842	-0.48	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	D	0.92532	0.6034	10	0.29301	T	0.29	-2.9789	14.626	0.68621	1.0:0.0:0.0:0.0	.	1079	Q04656	ATP7A_HUMAN	A	1001;82;1079	ENSP00000343026:T1001A;ENSP00000343678:T82A;ENSP00000345728:T1079A	ENSP00000345728:T1079A	T	+	1	0	ATP7A	77173677	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	9.339000	0.96797	1.914000	0.55421	0.412000	0.27726	ACT		0.398	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		23	144	0	0	0	1	0	23	144				
FCGR2A	2212	broad.mit.edu	37	1	161480679	161480679	+	Silent	SNP	G	G	A			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr1:161480679G>A	ENST00000271450.6	+	5	713	c.675G>A	c.(673-675)gcG>gcA	p.A225A	RP11-25K21.6_ENST00000537821.2_RNA|FCGR2A_ENST00000367972.4_Silent_p.A224A	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	225					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A224A(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TGGTCATTGCGACTGCTGTAG	0.502																																						ENST00000271450.6																			1	Substitution - coding silent(1)	p.A224A(1)	ovary(1)	autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19						c.(673-675)gcG>gcA		Fc fragment of IgG, low affinity IIa, receptor (CD32)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						224.0	226.0	225.0					1																	161480679		2203	4300	6503	SO:0001819	synonymous_variant	2212					integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161480679G>A	J03619	CCDS30922.1, CCDS44264.1	1q23	2013-01-11	2005-02-02		ENSG00000143226	ENSG00000143226		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3616	protein-coding gene	gene with protein product	"""Immunoglobulin G Fc receptor II"""	146790	"""Fc fragment of IgG, low affinity IIa, receptor for (CD32)"""	FCG2, FCGR2A1, FCGR2		2139735	Standard	NM_021642		Approved	CD32, CD32A, IGFR2, CDw32	uc001gan.3	P12318	OTTHUMG00000034469	ENST00000271450.6:c.675G>A	1.37:g.161480679G>A						FCGR2A_ENST00000367972.4_Silent_p.A224A|FCGR2A_ENST00000467525.1_3'UTR	p.A225A	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		5	713	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		225					Q8WUN1|Q8WW64	Silent	SNP	ENST00000271450.6	37	c.675G>A	CCDS44264.1																																																																																				0.502	FCGR2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083318.3	NM_021642		9	128	0	0	0	1	0	9	128				
RHBDD2	57414	broad.mit.edu	37	7	75511238	75511238	+	Silent	SNP	C	C	T	rs368904185		TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr7:75511238C>T	ENST00000006777.6	+	2	405	c.270C>T	c.(268-270)ttC>ttT	p.F90F	RHBDD2_ENST00000468304.1_Intron|RHBDD2_ENST00000428119.1_5'Flank|RHBDD2_ENST00000318622.4_5'UTR	NM_001040456.1	NP_001035546.1	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2	90						Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|lung(4)|prostate(1)	6						CTGGCAATTTCGAGAGAACCG	0.532													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19286	0.0		0.0	False		,,,				2504	0.0					ENST00000006777.6																			0				kidney(1)|lung(4)|prostate(1)	6						c.(268-270)ttC>ttT		rhomboid domain containing 2		C	,	1,4191		0,1,2095	118.0	128.0	125.0		270,	-4.4	1.0	7		125	0,8452		0,0,4226	no	coding-synonymous,utr-5	RHBDD2	NM_001040456.1,NM_001040457.1	,	0,1,6321	TT,TC,CC		0.0,0.0239,0.0079	,	90/365,	75511238	1,12643	2096	4226	6322	SO:0001819	synonymous_variant	57414					integral to membrane	serine-type endopeptidase activity	g.chr7:75511238C>T	AF226732	CCDS43602.1, CCDS43603.1	7q11	2008-09-04	2006-02-22	2006-02-22	ENSG00000005486	ENSG00000005486			23082	protein-coding gene	gene with protein product		615203	"""rhomboid, veinlet-like 7 (Drosophila)"""	RHBDL7		12838346	Standard	XM_005250511		Approved	NPD007	uc003udw.1	Q6NTF9	OTTHUMG00000156435	ENST00000006777.6:c.270C>T	7.37:g.75511238C>T						RHBDD2_ENST00000468304.1_Intron|RHBDD2_ENST00000318622.4_5'UTR	p.F90F	NM_001040456.1	NP_001035546.1	Q6NTF9	RHBD2_HUMAN			2	405	+			90					Q7L534|Q9H5W6|Q9HBK7|Q9UDT2	Silent	SNP	ENST00000006777.6	37	c.270C>T	CCDS43602.1																																																																																				0.532	RHBDD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344176.1	NM_020684		12	141	0	0	0	1	0	12	141				
CACNA1C	775	broad.mit.edu	37	12	2786382	2786382	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr12:2786382C>A	ENST00000347598.4	+	42	5095	c.5095C>A	c.(5095-5097)Ctg>Atg	p.L1699M	CACNA1C_ENST00000399617.1_Missense_Mutation_p.L1651M|CACNA1C_ENST00000399641.1_Missense_Mutation_p.L1651M|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399637.1_Missense_Mutation_p.L1670M|CACNA1C_ENST00000399595.1_Missense_Mutation_p.L1659M|CACNA1C_ENST00000399603.1_Missense_Mutation_p.L1651M|CACNA1C_ENST00000399655.1_Missense_Mutation_p.L1651M|CACNA1C_ENST00000399649.1_Missense_Mutation_p.L1657M|CACNA1C_ENST00000402845.3_Missense_Mutation_p.L1670M|CACNA1C_ENST00000399606.1_Missense_Mutation_p.L1671M|CACNA1C_ENST00000399634.1_Missense_Mutation_p.L1651M|CACNA1C_ENST00000344100.3_Missense_Mutation_p.L1692M|CACNA1C_ENST00000335762.5_Missense_Mutation_p.L1676M|CACNA1C_ENST00000399644.1_Missense_Mutation_p.L1651M|CACNA1C_ENST00000399597.1_Missense_Mutation_p.L1651M|CACNA1C_ENST00000399621.1_Missense_Mutation_p.L1670M|CACNA1C_ENST00000399638.1_Missense_Mutation_p.L1679M|CACNA1C_ENST00000406454.3_Missense_Mutation_p.L1651M|CACNA1C_ENST00000327702.7_Missense_Mutation_p.L1651M|CACNA1C_ENST00000399629.1_Missense_Mutation_p.L1668M|CACNA1C_ENST00000399591.1_Missense_Mutation_p.L1659M|CACNA1C_ENST00000399601.1_Missense_Mutation_p.L1651M	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1699					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CGCGCTGTCTCTGCAGGTGAG	0.637																																						ENST00000399655.1																			0				NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132						c.(4951-4953)Ctg>Atg		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						27.0	30.0	29.0					12																	2786382		2016	4183	6199	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2786382C>A	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.5095C>A	12.37:g.2786382C>A	ENSP00000266376:p.Leu1699Met					CACNA1C_ENST00000399603.1_Missense_Mutation_p.L1651M|CACNA1C_ENST00000399649.1_Missense_Mutation_p.L1657M|CACNA1C_ENST00000399634.1_Missense_Mutation_p.L1651M|CACNA1C_ENST00000344100.3_Missense_Mutation_p.L1692M|CACNA1C_ENST00000406454.3_Missense_Mutation_p.L1651M|CACNA1C_ENST00000347598.4_Missense_Mutation_p.L1699M|CACNA1C_ENST00000402845.3_Missense_Mutation_p.L1670M|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000335762.5_Missense_Mutation_p.L1676M|CACNA1C_ENST00000399597.1_Missense_Mutation_p.L1651M|CACNA1C_ENST00000399638.1_Missense_Mutation_p.L1679M|CACNA1C_ENST00000399629.1_Missense_Mutation_p.L1668M|CACNA1C_ENST00000399606.1_Missense_Mutation_p.L1671M|CACNA1C_ENST00000399637.1_Missense_Mutation_p.L1670M|CACNA1C_ENST00000399601.1_Missense_Mutation_p.L1651M|CACNA1C_ENST00000399591.1_Missense_Mutation_p.L1659M|CACNA1C_ENST00000399595.1_Missense_Mutation_p.L1659M|CACNA1C_ENST00000399617.1_Missense_Mutation_p.L1651M|CACNA1C_ENST00000399621.1_Missense_Mutation_p.L1670M|CACNA1C_ENST00000327702.7_Missense_Mutation_p.L1651M|CACNA1C_ENST00000399641.1_Missense_Mutation_p.L1651M|CACNA1C_ENST00000399644.1_Missense_Mutation_p.L1651M	p.L1651M	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	40	5216	+			1699					B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.4951C>A	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.563319	0.65651	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97688	-4.48;-4.48;-4.48;-4.45;-4.48;-4.46;-4.35;-4.35;-4.48;-4.37;-4.41;-4.48;-4.49;-4.4;-4.35;-4.47;-4.46;-4.48;-4.42;-4.45;-4.42;-4.46	4.33	3.44	0.39384	.	0.085533	0.48767	D	0.000163	D	0.98242	0.9418	M	0.77486	2.375	0.58432	D	0.999992	P;D;P;B;D;D;D;D;D;D;D;D;P;D;P;P;P;D;D;P;D;D;D;D;D	0.89917	0.841;0.976;0.937;0.08;0.959;0.976;0.971;0.976;0.959;0.99;0.976;0.979;0.82;0.957;0.895;0.586;0.616;0.976;0.976;0.952;0.963;0.976;0.987;1.0;1.0	P;P;P;B;P;P;P;P;P;D;P;P;P;D;P;P;P;D;P;P;P;P;D;D;D	0.91635	0.678;0.82;0.679;0.149;0.82;0.872;0.815;0.872;0.857;0.97;0.872;0.839;0.839;0.937;0.48;0.628;0.477;0.924;0.82;0.789;0.812;0.872;0.918;0.999;0.998	D	0.98335	1.0535	10	0.87932	D	0	.	9.5423	0.39260	0.0:0.8117:0.0:0.1883	.	342;1692;1648;1699;1651;1670;1651;1668;1679;1651;1671;1651;1611;1699;1651;1651;1651;1659;1657;1659;1640;1670;1670;1651;1651	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	M	1676;1651;1651;1679;1651;1670;1670;1659;1651;1699;1671;1651;1692;1668;1651;1657;1670;1651;1651;1651;1651;1659;1481	ENSP00000336982:L1676M;ENSP00000382563:L1651M;ENSP00000382552:L1651M;ENSP00000382547:L1679M;ENSP00000382506:L1651M;ENSP00000382530:L1670M;ENSP00000382546:L1670M;ENSP00000382500:L1659M;ENSP00000382549:L1651M;ENSP00000266376:L1699M;ENSP00000382515:L1671M;ENSP00000382510:L1651M;ENSP00000341092:L1692M;ENSP00000382537:L1668M;ENSP00000329877:L1651M;ENSP00000382557:L1657M;ENSP00000385724:L1670M;ENSP00000382512:L1651M;ENSP00000382542:L1651M;ENSP00000382526:L1651M;ENSP00000385896:L1651M;ENSP00000382504:L1659M	ENSP00000323129:L1481M	L	+	1	2	CACNA1C	2656643	1.000000	0.71417	0.978000	0.43139	0.776000	0.43924	2.234000	0.43035	1.057000	0.40506	0.455000	0.32223	CTG		0.637	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		3	23	1	0	1	1	1	3	23				
OGDHL	55753	broad.mit.edu	37	10	50960022	50960022	+	Silent	SNP	G	G	T			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr10:50960022G>T	ENST00000374103.4	-	6	685	c.600C>A	c.(598-600)acC>acA	p.T200T	OGDHL_ENST00000432695.1_5'UTR|OGDHL_ENST00000419399.1_Silent_p.T143T	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	200					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GCTGGCAGTAGGTGTTCTGGG	0.552																																						ENST00000374103.4																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						c.(598-600)acC>acA		oxoglutarate dehydrogenase-like							159.0	157.0	157.0					10																	50960022		2203	4300	6503	SO:0001819	synonymous_variant	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50960022G>T	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.600C>A	10.37:g.50960022G>T						OGDHL_ENST00000419399.1_Silent_p.T143T|OGDHL_ENST00000432695.1_5'UTR	p.T200T	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN			6	685	-			200					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Silent	SNP	ENST00000374103.4	37	c.600C>A	CCDS7234.1																																																																																				0.552	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		15	141	1	0	4.93089e-13	1	5.54033e-13	15	141				
INSM2	84684	broad.mit.edu	37	14	36004851	36004851	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr14:36004851G>A	ENST00000307169.3	+	1	1604	c.1393G>A	c.(1393-1395)Ggt>Agt	p.G465S		NM_032594.3	NP_115983.3	Q96T92	INSM2_HUMAN	insulinoma-associated 2	465					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	10	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		CTCCGAACGCGGTGCCCCACT	0.637																																						ENST00000307169.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	10						c.(1393-1395)Ggt>Agt		insulinoma-associated 2							38.0	42.0	41.0					14																	36004851		2202	4297	6499	SO:0001583	missense	84684				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr14:36004851G>A	AF260323	CCDS9657.1	14q13.1	2013-01-08			ENSG00000168348	ENSG00000168348		"""Zinc fingers, C2H2-type"""	17539	protein-coding gene	gene with protein product	"""mlt 1"""	614027					Standard	NM_032594		Approved	IA-6	uc001wth.1	Q96T92	OTTHUMG00000140223	ENST00000307169.3:c.1393G>A	14.37:g.36004851G>A	ENSP00000306523:p.Gly465Ser						p.G465S	NM_032594.3	NP_115983.3	Q96T92	INSM2_HUMAN	LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)	1	1604	+	Breast(36;0.122)|Hepatocellular(127;0.158)		465					A1L432|J9Y024|Q8N8K7|Q96Q84	Missense_Mutation	SNP	ENST00000307169.3	37	c.1393G>A	CCDS9657.1	.	.	.	.	.	.	.	.	.	.	G	7.753	0.703735	0.15172	.	.	ENSG00000168348	ENST00000307169	T	0.26660	1.72	4.62	1.06	0.20224	.	.	.	.	.	T	0.07954	0.0199	N	0.03608	-0.345	0.21386	N	0.999704	B	0.13594	0.008	B	0.09377	0.004	T	0.37454	-0.9705	9	0.08837	T	0.75	-2.0015	2.3777	0.04346	0.4349:0.0:0.3411:0.224	.	465	Q96T92	INSM2_HUMAN	S	465	ENSP00000306523:G465S	ENSP00000306523:G465S	G	+	1	0	INSM2	35074602	0.000000	0.05858	0.028000	0.17463	0.942000	0.58702	0.005000	0.13129	0.397000	0.25310	0.561000	0.74099	GGT		0.637	INSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276686.1			12	71	0	0	0	1	0	12	71				
PSD3	23362	broad.mit.edu	37	8	18729567	18729567	+	Silent	SNP	C	C	T	rs75089468		TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr8:18729567C>T	ENST00000327040.8	-	3	909	c.807G>A	c.(805-807)ttG>ttA	p.L269L	PSD3_ENST00000523619.1_Silent_p.L204L|PSD3_ENST00000440756.2_Silent_p.L269L	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	269					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TCTGCTCTTTCAAGAAACCAA	0.582																																						ENST00000440756.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(805-807)ttG>ttA		pleckstrin and Sec7 domain containing 3							44.0	45.0	45.0					8																	18729567		1942	4142	6084	SO:0001819	synonymous_variant	23362				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	g.chr8:18729567C>T	AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.807G>A	8.37:g.18729567C>T						PSD3_ENST00000327040.8_Silent_p.L269L|PSD3_ENST00000523619.1_Silent_p.L204L	p.L269L			Q9NYI0	PSD3_HUMAN		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	3	909	-			269					A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Silent	SNP	ENST00000327040.8	37	c.807G>A	CCDS43720.1																																																																																				0.582	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		4	67	0	0	0	1	0	4	67				
FAM166B	730112	broad.mit.edu	37	9	35562534	35562534	+	Silent	SNP	G	G	A	rs370595927		TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr9:35562534G>A	ENST00000399742.2	-	5	652	c.582C>T	c.(580-582)ttC>ttT	p.F194F	FAM166B_ENST00000492890.1_Intron	NM_001099951.2|NM_001164310.1	NP_001093421.1|NP_001157782.1	A8MTA8	F166B_HUMAN	family with sequence similarity 166, member B	194										kidney(3)|large_intestine(1)|lung(4)|ovary(1)	9						AGCTGGAGCCGAAGAGGAAGC	0.627																																						ENST00000399742.2																			0				kidney(3)|large_intestine(1)|lung(4)|ovary(1)	9						c.(580-582)ttC>ttT		family with sequence similarity 166, member B							38.0	47.0	44.0					9																	35562534		2168	4277	6445	SO:0001819	synonymous_variant	730112							g.chr9:35562534G>A	BC129999	CCDS47963.1, CCDS56572.1	9p13.3	2008-06-10			ENSG00000215187	ENSG00000215187			34242	protein-coding gene	gene with protein product							Standard	NM_001099951		Approved		uc010mkr.3	A8MTA8	OTTHUMG00000019858	ENST00000399742.2:c.582C>T	9.37:g.35562534G>A						FAM166B_ENST00000492890.1_Intron	p.F194F	NM_001099951.2|NM_001164310.1	NP_001093421.1|NP_001157782.1	A8MTA8	F166B_HUMAN			5	652	-			194					A1L3B2|B7ZBJ0	Silent	SNP	ENST00000399742.2	37	c.582C>T	CCDS56572.1																																																																																				0.627	FAM166B-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336563.1	NM_001099951		5	14	0	0	0	1	0	5	14				
RORA	6095	broad.mit.edu	37	15	60907184	60907184	+	Intron	SNP	T	T	C	rs201818123		TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr15:60907184T>C	ENST00000335670.6	-	2	297				RORA_ENST00000560004.1_Intron|RP11-219B17.1_ENST00000559824.1_RNA|RP11-219B17.1_ENST00000558235.1_RNA|RORA_ENST00000261523.5_Intron|RORA_ENST00000309157.4_Silent_p.Q60Q	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A						angiogenesis (GO:0001525)|cellular response to hypoxia (GO:0071456)|cellular response to sterol (GO:0036315)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|muscle cell differentiation (GO:0042692)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cholesterol homeostasis (GO:2000188)|regulation of glucose metabolic process (GO:0010906)|regulation of macrophage activation (GO:0043030)|regulation of smoothened signaling pathway (GO:0008589)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|regulation of transcription, DNA-templated (GO:0006355)|T-helper 17 cell differentiation (GO:0072539)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator binding (GO:0001223)|transcription corepressor binding (GO:0001222)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						TGTGCTCAAGTTGAGACCAGA	0.478																																						ENST00000309157.4																			0				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(178-180)caA>caG		RAR-related orphan receptor A							59.0	56.0	57.0					15																	60907184		2203	4300	6503	SO:0001627	intron_variant	6095				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr15:60907184T>C	U04897	CCDS10177.1, CCDS10178.1, CCDS10179.1, CCDS45271.1	15q21-q22	2013-01-16			ENSG00000069667	ENSG00000069667		"""Nuclear hormone receptors"""	10258	protein-coding gene	gene with protein product		600825				7926749	Standard	NM_134261		Approved	RZRA, ROR1, ROR2, ROR3, NR1F1	uc002agv.3	P35398	OTTHUMG00000132769	ENST00000335670.6:c.196+63671A>G	15.37:g.60907184T>C						RORA_ENST00000560004.1_Intron|RP11-219B17.1_ENST00000559824.1_RNA|RORA_ENST00000261523.5_Intron|RP11-219B17.1_ENST00000558235.1_RNA|RORA_ENST00000335670.6_Intron	p.Q60Q	NM_002943.3	NP_002934.1	P35398	RORA_HUMAN			2	249	-			63			Modulating.		P35397|P35399|P45445|Q495X4|Q96H83	Silent	SNP	ENST00000335670.6	37	c.180A>G	CCDS10177.1																																																																																				0.478	RORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256142.2			3	32	0	0	0	1	0	3	32				
ZNF589	51385	broad.mit.edu	37	3	48309526	48309526	+	Missense_Mutation	SNP	A	A	C			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr3:48309526A>C	ENST00000354698.3	+	4	417	c.345A>C	c.(343-345)caA>caC	p.Q115H	ZNF589_ENST00000440261.2_Missense_Mutation_p.Q114H|ZNF589_ENST00000427617.2_Intron|ZNF589_ENST00000412564.1_Intron	NM_016089.2	NP_057173.2	Q86UQ0	ZN589_HUMAN	zinc finger protein 589	115					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CAGGAAATCAACTCCACCCAG	0.507																																					Colon(9;319 328 25374 27611 50948)	ENST00000354698.3																			0				large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						c.(343-345)caA>caC		zinc finger protein 589							70.0	71.0	71.0					3																	48309526		1971	4179	6150	SO:0001583	missense	51385				regulation of transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:48309526A>C	AF114816	CCDS43085.1	3p21	2013-01-08			ENSG00000164048	ENSG00000164048		"""Zinc fingers, C2H2-type"", ""-"""	16747	protein-coding gene	gene with protein product						10029171	Standard	NM_016089		Approved	SZF1	uc003csl.4	Q86UQ0	OTTHUMG00000156833	ENST00000354698.3:c.345A>C	3.37:g.48309526A>C	ENSP00000346729:p.Gln115His					ZNF589_ENST00000440261.2_Missense_Mutation_p.Q114H|ZNF589_ENST00000427617.2_Intron|ZNF589_ENST00000412564.1_Intron	p.Q115H	NM_016089.2	NP_057173.2	Q86UQ0	ZN589_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	4	417	+			115					Q86UC9|Q9BRI6|Q9BRY3|Q9Y611|Q9Y612	Missense_Mutation	SNP	ENST00000354698.3	37	c.345A>C	CCDS43085.1	.	.	.	.	.	.	.	.	.	.	A	3.973	-0.008042	0.07773	.	.	ENSG00000164048	ENST00000354698;ENST00000440261;ENST00000296437	T;T	0.06294	3.32;4.93	1.17	-0.159	0.13379	.	.	.	.	.	T	0.02083	0.0065	N	0.01874	-0.695	0.09310	N	1	B;D;P	0.53462	0.003;0.96;0.932	B;P;B	0.44394	0.001;0.448;0.261	T	0.25676	-1.0125	9	0.09590	T	0.72	.	3.8524	0.08960	0.6037:0.3963:0.0:0.0	.	114;112;115	B4DQF9;Q86UQ0-2;Q86UQ0	.;.;ZN589_HUMAN	H	115;114;112	ENSP00000346729:Q115H;ENSP00000408719:Q114H	ENSP00000296437:Q112H	Q	+	3	2	ZNF589	48284530	0.000000	0.05858	0.005000	0.12908	0.598000	0.36846	-1.313000	0.02718	-0.051000	0.13334	0.383000	0.25322	CAA		0.507	ZNF589-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346124.1	NM_016089		12	43	0	0	0	1	0	12	43				
GMIP	51291	broad.mit.edu	37	19	19748784	19748784	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr19:19748784C>T	ENST00000203556.4	-	10	1009	c.872G>A	c.(871-873)cGa>cAa	p.R291Q	GMIP_ENST00000587238.1_Missense_Mutation_p.R291Q|GMIP_ENST00000586269.1_5'Flank|GMIP_ENST00000445806.2_Missense_Mutation_p.R291Q	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	291					intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CGACACGATTCGCTGCTTGGC	0.687																																						ENST00000203556.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(871-873)cGa>cAa		GEM interacting protein							53.0	41.0	45.0					19																	19748784		2203	4300	6503	SO:0001583	missense	51291				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity	g.chr19:19748784C>T	AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"""Rho GTPase activating proteins"""	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.872G>A	19.37:g.19748784C>T	ENSP00000203556:p.Arg291Gln					GMIP_ENST00000445806.2_Missense_Mutation_p.R291Q|GMIP_ENST00000587238.1_Missense_Mutation_p.R291Q	p.R291Q	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN			10	1009	-			291					A0AVN9|B7ZLZ0	Missense_Mutation	SNP	ENST00000203556.4	37	c.872G>A	CCDS12408.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.341127	0.81911	.	.	ENSG00000089639	ENST00000203556;ENST00000445806	T;T	0.39592	1.07;1.07	4.41	4.41	0.53225	.	0.000000	0.37393	N	0.002112	T	0.41465	0.1160	L	0.46157	1.445	0.27888	N	0.939431	D;D;D	0.76494	0.999;0.999;0.999	P;P;P	0.48952	0.573;0.573;0.596	T	0.32079	-0.9920	10	0.12430	T	0.62	-20.2484	14.5113	0.67789	0.0:1.0:0.0:0.0	.	291;291;291	E7ERB7;B7ZLZ0;Q9P107	.;.;GMIP_HUMAN	Q	291	ENSP00000203556:R291Q;ENSP00000397075:R291Q	ENSP00000203556:R291Q	R	-	2	0	GMIP	19609784	0.001000	0.12720	1.000000	0.80357	0.961000	0.63080	0.969000	0.29370	2.008000	0.58898	0.313000	0.20887	CGA		0.687	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	NM_016573		5	33	0	0	0	1	0	5	33				
KLHDC7A	127707	broad.mit.edu	37	1	18807521	18807521	+	Missense_Mutation	SNP	C	C	A	rs140809384	byFrequency	TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr1:18807521C>A	ENST00000400664.1	+	1	98	c.46C>A	c.(46-48)Cag>Aag	p.Q16K		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	16						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TTTGGATATGCAGCTGACCGG	0.597													C|||	4	0.000798722	0.0	0.0	5008	,	,		19349	0.0		0.004	False		,,,				2504	0.0					ENST00000400664.1																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(46-48)Cag>Aag		kelch domain containing 7A		C	LYS/GLN	2,4110		0,2,2054	51.0	58.0	56.0		46	5.8	1.0	1	dbSNP_134	56	19,8411		0,19,4196	yes	missense	KLHDC7A	NM_152375.2	53	0,21,6250	AA,AC,CC		0.2254,0.0486,0.1674	possibly-damaging	16/778	18807521	21,12521	2056	4215	6271	SO:0001583	missense	127707					integral to membrane		g.chr1:18807521C>A	AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.46C>A	1.37:g.18807521C>A	ENSP00000383505:p.Gln16Lys						p.Q16K	NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	98	+		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)	16					Q8N8W6	Missense_Mutation	SNP	ENST00000400664.1	37	c.46C>A	CCDS185.2	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	C	21.1	4.102906	0.76983	4.86E-4	0.002254	ENSG00000179023	ENST00000400664	T	0.80123	-1.34	5.82	5.82	0.92795	.	.	.	.	.	D	0.83926	0.5360	N	0.24115	0.695	0.37413	D	0.913336	D	0.89917	1.0	D	0.71184	0.972	D	0.87200	0.2240	9	0.87932	D	0	.	18.6548	0.91448	0.0:1.0:0.0:0.0	.	16	Q5VTJ3	KLD7A_HUMAN	K	16	ENSP00000383505:Q16K	ENSP00000383505:Q16K	Q	+	1	0	KLHDC7A	18680108	1.000000	0.71417	1.000000	0.80357	0.481000	0.33189	5.012000	0.64017	2.755000	0.94549	0.591000	0.81541	CAG		0.597	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375		4	54	1	0	0.00909568	1	0.0095744	4	54				
CHST15	51363	broad.mit.edu	37	10	125769719	125769719	+	Silent	SNP	G	G	A			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr10:125769719G>A	ENST00000346248.5	-	8	2274	c.1632C>T	c.(1630-1632)aaC>aaT	p.N544N	CHST15_ENST00000435907.1_Silent_p.N544N	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	544					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						CCAGCCTAGCGTTGAAGGGCC	0.622																																						ENST00000346248.5																			0				endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						c.(1630-1632)aaC>aaT		carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15							59.0	61.0	60.0					10																	125769719		2203	4300	6503	SO:0001819	synonymous_variant	51363				hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity	g.chr10:125769719G>A	AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	2.8.2.33	"""Sulfotransferases, membrane-bound"""	18137	protein-coding gene	gene with protein product	"""B cell RAG associated protein"", ""N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"""	608277				9628581, 9754571, 11572857	Standard	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.1632C>T	10.37:g.125769719G>A						CHST15_ENST00000435907.1_Silent_p.N544N	p.N544N	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN			8	2274	-			544					O60338|O60474|Q86VM4	Silent	SNP	ENST00000346248.5	37	c.1632C>T	CCDS7638.1																																																																																				0.622	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050856.1	NM_015892		12	55	0	0	0	1	0	12	55				
D2HGDH	728294	broad.mit.edu	37	2	242707144	242707144	+	Silent	SNP	C	C	G			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr2:242707144C>G	ENST00000321264.4	+	10	1535	c.1326C>G	c.(1324-1326)ctC>ctG	p.L442L	D2HGDH_ENST00000403782.1_Silent_p.L308L|D2HGDH_ENST00000486953.1_3'UTR	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	442					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|response to cobalt ion (GO:0032025)|response to manganese ion (GO:0010042)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-2-hydroxyglutarate dehydrogenase activity (GO:0051990)|flavin adenine dinucleotide binding (GO:0050660)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		ACCTGCACCTCAATGTGACGG	0.697																																						ENST00000321264.4																			0				breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16						c.(1324-1326)ctC>ctG		D-2-hydroxyglutarate dehydrogenase							46.0	54.0	51.0					2																	242707144		2203	4296	6499	SO:0001819	synonymous_variant	728294				2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding	g.chr2:242707144C>G	AK091725	CCDS33426.1, CCDS74684.1	2p25.3	2010-05-11			ENSG00000180902	ENSG00000180902	1.1.99.-		28358	protein-coding gene	gene with protein product		609186				15070399, 15609246	Standard	NM_152783		Approved	MGC25181, D2HGD, FLJ42195	uc002wce.1	Q8N465	OTTHUMG00000151474	ENST00000321264.4:c.1326C>G	2.37:g.242707144C>G						D2HGDH_ENST00000403782.1_Silent_p.L308L|D2HGDH_ENST00000486953.1_3'UTR	p.L442L	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)	10	1535	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	442					B4E3L6|E7ENP2|Q6IQ24|Q8N5Q8	Silent	SNP	ENST00000321264.4	37	c.1326C>G	CCDS33426.1	.	.	.	.	.	.	.	.	.	.	C	1.859	-0.463062	0.04476	.	.	ENSG00000180902	ENST00000445308	.	.	.	4.45	-1.08	0.09936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0183	11.4564	0.50185	0.1861:0.1547:0.6592:0.0	.	.	.	.	X	241	.	.	S	+	2	0	D2HGDH	242355817	1.000000	0.71417	0.996000	0.52242	0.317000	0.28152	0.802000	0.27069	-0.061000	0.13110	0.457000	0.33378	TCA		0.697	D2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322794.2	NM_152783		10	61	0	0	0	1	0	10	61				
KMT2B	9757	broad.mit.edu	37	19	36213897	36213897	+	Splice_Site	SNP	A	A	T			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr19:36213897A>T	ENST00000222270.7	+	6	2723	c.2723A>T	c.(2722-2724)gAt>gTt	p.D908V	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Splice_Site_p.D908V	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	908					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GCTGCAATAGATACATCATCG	0.607																																						ENST00000420124.1																			0											c.e6-1									18.0	22.0	20.0					19																	36213897		2031	4170	6201	SO:0001630	splice_region_variant	9757							g.chr19:36213897A>T	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.2723-1A>T	19.37:g.36213897A>T						KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_Splice_Site_p.D908_splice	p.D908_splice							6	2723	+								O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Splice_Site	SNP	ENST00000222270.7	37	c.2722_splice	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	A	10.74	1.435207	0.25813	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.84223	-1.82;-1.82	5.82	5.82	0.92795	.	0.000000	0.41938	D	0.000799	T	0.80534	0.4641	L	0.48642	1.525	0.80722	D	1	B	0.22800	0.075	B	0.19666	0.026	T	0.75306	-0.3364	9	.	.	.	.	13.7096	0.62661	1.0:0.0:0.0:0.0	.	908	Q9UMN6	MLL4_HUMAN	V	908	ENSP00000222270:D908V;ENSP00000398837:D908V	.	D	+	2	0	AD000671.1	40905737	1.000000	0.71417	0.999000	0.59377	0.248000	0.25809	6.287000	0.72671	2.225000	0.72522	0.533000	0.62120	GAT		0.607	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727	Missense_Mutation	3	18	0	0	0	1	0	3	18				
PCDHGB4	8641	broad.mit.edu	37	5	140768073	140768073	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr5:140768073T>C	ENST00000519479.1	+	1	622	c.622T>C	c.(622-624)Tac>Cac	p.Y208H	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	208	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGAAATCCTACCACTTGAC	0.433																																						ENST00000519479.1																			0				endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37						c.(622-624)Tac>Cac									90.0	93.0	92.0					5																	140768073		1981	4168	6149	SO:0001583	missense	8641							g.chr5:140768073T>C	AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.622T>C	5.37:g.140768073T>C	ENSP00000428288:p.Tyr208His					PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron	p.Y208H	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	622	+								O15099|Q2M267|Q9UN64	Missense_Mutation	SNP	ENST00000519479.1	37	c.622T>C	CCDS54928.1	.	.	.	.	.	.	.	.	.	.	.	0.006	-2.063256	0.00386	.	.	ENSG00000253953	ENST00000519479	T	0.69561	-0.41	4.99	-1.61	0.08399	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.37046	0.0989	N	0.04669	-0.19	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.13407	0.001;0.009	T	0.30208	-0.9986	9	0.02654	T	1	.	12.1287	0.53930	0.0:0.5011:0.0:0.4989	.	208;208	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	H	208	ENSP00000428288:Y208H	ENSP00000428288:Y208H	Y	+	1	0	PCDHGB4	140748257	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.660000	0.05317	-0.205000	0.10219	-0.250000	0.11733	TAC		0.433	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736		19	81	0	0	0	1	0	19	81				
FCRL1	115350	broad.mit.edu	37	1	157771735	157771735	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr1:157771735G>A	ENST00000368176.3	-	5	923	c.856C>T	c.(856-858)Cgc>Tgc	p.R286C	FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000491942.1_Missense_Mutation_p.R286C|FCRL1_ENST00000358292.3_Missense_Mutation_p.R286C	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	286	Ig-like C2-type 3.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GCCTCACTGCGCTGGGCCCCC	0.562																																					GBM(54;482 1003 11223 30131 35730)	ENST00000358292.3																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42						c.(856-858)Cgc>Tgc		Fc receptor-like 1							78.0	83.0	82.0					1																	157771735		2203	4300	6503	SO:0001583	missense	115350					integral to membrane|plasma membrane	receptor activity	g.chr1:157771735G>A	BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.856C>T	1.37:g.157771735G>A	ENSP00000357158:p.Arg286Cys					FCRL1_ENST00000368176.3_Missense_Mutation_p.R286C|FCRL1_ENST00000491942.1_Missense_Mutation_p.R286C|FCRL1_ENST00000489998.1_5'UTR	p.R286C	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		5	907	-	all_hematologic(112;0.0378)		286			Ig-like C2-type 3.		B2RE05|Q8N759|Q8NDI0|Q96PJ6	Missense_Mutation	SNP	ENST00000368176.3	37	c.856C>T	CCDS1170.1	.	.	.	.	.	.	.	.	.	.	G	6.253	0.414871	0.11870	.	.	ENSG00000163534	ENST00000358292;ENST00000368176;ENST00000491942	T;T;T	0.03553	3.89;3.89;3.89	5.1	2.22	0.28083	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.308130	0.04796	N	0.432487	T	0.03564	0.0102	L	0.58428	1.81	0.09310	N	1	P;B;D	0.89917	0.579;0.243;1.0	B;B;P	0.53689	0.119;0.112;0.732	T	0.38415	-0.9662	10	0.35671	T	0.21	.	6.6098	0.22745	0.2876:0.0:0.7124:0.0	.	286;286;286	Q96LA6-3;Q96LA6-2;Q96LA6	.;.;FCRL1_HUMAN	C	286	ENSP00000351039:R286C;ENSP00000357158:R286C;ENSP00000418130:R286C	ENSP00000351039:R286C	R	-	1	0	FCRL1	156038359	0.483000	0.25956	0.043000	0.18650	0.394000	0.30568	1.458000	0.35223	0.854000	0.35336	0.650000	0.86243	CGC		0.562	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051401.1	NM_052938		14	50	0	0	0	1	0	14	50				
FBXO9	26268	broad.mit.edu	37	6	52957298	52957298	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr6:52957298C>T	ENST00000244426.6	+	7	927	c.755C>T	c.(754-756)aCg>aTg	p.T252M	FBXO9_ENST00000323557.7_Missense_Mutation_p.T242M|RN7SL244P_ENST00000493405.2_RNA|FBXO9_ENST00000370939.3_Missense_Mutation_p.T208M	NM_012347.4	NP_036479.1	Q9UK97	FBX9_HUMAN	F-box protein 9	252					fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|protein ubiquitination (GO:0016567)|regulation of TOR signaling (GO:0032006)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			kidney(1)|large_intestine(4)|lung(1)|pancreas(2)|skin(1)	9	Lung NSC(77;0.103)					GTTCCGTACACGTCCTGGAGA	0.418																																						ENST00000244426.6																			0				kidney(1)|large_intestine(4)|lung(1)|pancreas(2)|skin(1)	9						c.(754-756)aCg>aTg		F-box protein 9							180.0	170.0	173.0					6																	52957298		1871	4106	5977	SO:0001583	missense	26268					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr6:52957298C>T	AF155114	CCDS55022.1, CCDS55023.1, CCDS55024.1	6p12.3-p11.2	2004-06-15	2004-06-15		ENSG00000112146	ENSG00000112146		"""F-boxes /  ""other"""""	13588	protein-coding gene	gene with protein product		609091	"""F-box only protein 9"""			10531035, 10531037	Standard	NM_012347		Approved	FBX9, NY-REN-57	uc021zao.1	Q9UK97	OTTHUMG00000014869	ENST00000244426.6:c.755C>T	6.37:g.52957298C>T	ENSP00000244426:p.Thr252Met					FBXO9_ENST00000323557.7_Missense_Mutation_p.T242M|FBXO9_ENST00000370939.3_Missense_Mutation_p.T208M	p.T252M	NM_012347.4	NP_036479.1	Q9UK97	FBX9_HUMAN			7	927	+	Lung NSC(77;0.103)		252					A6NFW3|B3KMM6|O75986|Q59EH8|Q6PKH7|Q9NT57|Q9Y593	Missense_Mutation	SNP	ENST00000244426.6	37	c.755C>T	CCDS55023.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.889531	0.52014	.	.	ENSG00000112146	ENST00000370939;ENST00000323557;ENST00000244426	T;T;T	0.22743	1.94;1.94;1.94	5.41	5.41	0.78517	F-box domain, Skp2-like (1);	0.261104	0.42294	D	0.000734	T	0.11665	0.0284	L	0.47190	1.495	0.29207	N	0.874848	P;P;B	0.44429	0.835;0.736;0.189	B;B;B	0.36534	0.224;0.227;0.058	T	0.05666	-1.0871	10	0.45353	T	0.12	-18.8677	19.5526	0.95328	0.0:1.0:0.0:0.0	.	242;359;252	Q9UK97-2;Q59EH8;Q9UK97	.;.;FBX9_HUMAN	M	208;242;252	ENSP00000359977:T208M;ENSP00000326968:T242M;ENSP00000244426:T252M	ENSP00000244426:T252M	T	+	2	0	FBXO9	53065257	0.969000	0.33509	0.861000	0.33841	0.912000	0.54170	2.690000	0.47001	2.701000	0.92244	0.563000	0.77884	ACG		0.418	FBXO9-002	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040950.3			11	54	0	0	0	1	0	11	54				
LHX3	8022	broad.mit.edu	37	9	139092480	139092480	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr9:139092480C>T	ENST00000371748.5	-	2	295	c.199G>A	c.(199-201)Gag>Aag	p.E67K	LHX3_ENST00000371746.3_Missense_Mutation_p.E72K	NM_178138.4	NP_835258.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	67	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				inner ear development (GO:0048839)|lung development (GO:0030324)|medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|placenta development (GO:0001890)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spinal cord association neuron differentiation (GO:0021527)|spinal cord motor neuron cell fate specification (GO:0021520)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		AAGCAGCGCTCGGCCAGTGGC	0.617																																						ENST00000371746.3																			0				large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8						c.(214-216)Gag>Aag		LIM homeobox 3							78.0	61.0	67.0					9																	139092480		2203	4300	6503	SO:0001583	missense	8022				inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:139092480C>T	AF096169	CCDS6994.1, CCDS6995.1	9q34.3	2011-06-20			ENSG00000107187	ENSG00000107187		"""Homeoboxes / LIM class"""	6595	protein-coding gene	gene with protein product		600577				10598593, 10717474	Standard	NM_178138		Approved		uc004cgz.3	Q9UBR4	OTTHUMG00000020924	ENST00000371748.5:c.199G>A	9.37:g.139092480C>T	ENSP00000360813:p.Glu67Lys					LHX3_ENST00000371748.5_Missense_Mutation_p.E67K	p.E72K	NM_014564.3	NP_055379.1	Q9UBR4	LHX3_HUMAN		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)	2	332	-		Myeloproliferative disorder(178;0.0511)	67			LIM zinc-binding 1.		Q5TB39|Q5TB40|Q9NZB5|Q9P0I8|Q9P0I9	Missense_Mutation	SNP	ENST00000371748.5	37	c.214G>A	CCDS6994.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.489714	0.84962	.	.	ENSG00000107187	ENST00000371748;ENST00000371746;ENST00000325195	D;D	0.87334	-2.24;-2.24	4.65	4.65	0.58169	Zinc finger, LIM-type (4);	0.063537	0.64402	D	0.000006	D	0.84156	0.5410	L	0.41415	1.275	0.80722	D	1	P;P	0.39157	0.608;0.662	B;B	0.40506	0.311;0.331	D	0.85667	0.1292	10	0.52906	T	0.07	.	16.6714	0.85268	0.0:1.0:0.0:0.0	.	67;72	Q9UBR4;F1T0D9	LHX3_HUMAN;.	K	67;72;70	ENSP00000360813:E67K;ENSP00000360811:E72K	ENSP00000319224:E70K	E	-	1	0	LHX3	138232301	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	7.405000	0.80007	2.424000	0.82194	0.591000	0.81541	GAG		0.617	LHX3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055048.3			6	56	0	0	0	1	0	6	56				
UNC79	57578	broad.mit.edu	37	14	94088895	94088895	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr14:94088895G>C	ENST00000393151.2	+	30	5316	c.5316G>C	c.(5314-5316)gaG>gaC	p.E1772D	UNC79_ENST00000553484.1_Missense_Mutation_p.E1794D|UNC79_ENST00000256339.4_Missense_Mutation_p.E1595D|UNC79_ENST00000555664.1_Missense_Mutation_p.E1772D			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1772					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CTGAGGGGGAGAAGCCTGGGG	0.562																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(5380-5382)gaG>gaC		unc-79 homolog (C. elegans)							63.0	62.0	62.0					14																	94088895		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94088895G>C	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.5316G>C	14.37:g.94088895G>C	ENSP00000376858:p.Glu1772Asp					UNC79_ENST00000256339.4_Missense_Mutation_p.E1595D|UNC79_ENST00000555664.1_Missense_Mutation_p.E1772D|UNC79_ENST00000393151.2_Missense_Mutation_p.E1772D	p.E1794D			Q9P2D8	UNC79_HUMAN			31	5536	+			1772					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.5382G>C		.	.	.	.	.	.	.	.	.	.	G	0.234	-1.019099	0.02078	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.18174	2.23;2.23;2.23;2.23	5.57	0.194	0.15143	.	0.935115	0.09117	N	0.846242	T	0.08403	0.0209	N	0.19112	0.55	0.09310	N	1	B	0.17038	0.02	B	0.15870	0.014	T	0.39901	-0.9591	10	0.25751	T	0.34	-4.0088	0.7223	0.00943	0.2038:0.2041:0.3166:0.2755	.	1794	C9JQL1	.	D	1595;1772;1794;1772;1794	ENSP00000256339:E1595D;ENSP00000450868:E1772D;ENSP00000451360:E1794D;ENSP00000376858:E1772D	ENSP00000256339:E1595D	E	+	3	2	KIAA1409	93158648	0.148000	0.22702	0.025000	0.17156	0.036000	0.12997	-0.220000	0.09215	0.109000	0.17891	0.484000	0.47621	GAG		0.562	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		7	69	0	0	0	1	0	7	69				
SLCO3A1	28232	broad.mit.edu	37	15	92459324	92459324	+	Silent	SNP	C	C	T			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr15:92459324C>T	ENST00000318445.6	+	2	496	c.282C>T	c.(280-282)ctC>ctT	p.L94L	SLCO3A1_ENST00000424469.2_Silent_p.L94L	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	94					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	CGCTCATCCTCTTCGTGAGCT	0.677																																						ENST00000318445.6																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25						c.(280-282)ctC>ctT		solute carrier organic anion transporter family, member 3A1							52.0	42.0	45.0					15																	92459324		2198	4297	6495	SO:0001819	synonymous_variant	28232				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity	g.chr15:92459324C>T	AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"""Solute carriers"""	10952	protein-coding gene	gene with protein product		612435	"""solute carrier family 21 (organic anion transporter), member 11"""	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.282C>T	15.37:g.92459324C>T						SLCO3A1_ENST00000424469.2_Silent_p.L94L	p.L94L	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0841)		2	496	+	Lung NSC(78;0.0158)|all_lung(78;0.0255)		94					A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Silent	SNP	ENST00000318445.6	37	c.282C>T	CCDS10371.1																																																																																				0.677	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313529.1	NM_013272		12	60	0	0	0	1	0	12	60				
GLG1	2734	broad.mit.edu	37	16	74511429	74511429	+	Silent	SNP	G	G	C			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr16:74511429G>C	ENST00000422840.2	-	12	1829	c.1830C>G	c.(1828-1830)ctC>ctG	p.L610L	GLG1_ENST00000205061.5_Silent_p.L610L|GLG1_ENST00000447066.2_Silent_p.L599L	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	610					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						ACTCCCGTGAGAGCTGCATGA	0.443																																						ENST00000422840.2																			0				breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						c.(1828-1830)ctC>ctG		golgi glycoprotein 1							67.0	56.0	60.0					16																	74511429		2198	4300	6498	SO:0001819	synonymous_variant	2734					Golgi membrane|integral to membrane	receptor binding	g.chr16:74511429G>C		CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"""golgi apparatus protein 1"""			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.1830C>G	16.37:g.74511429G>C						GLG1_ENST00000205061.5_Silent_p.L610L|GLG1_ENST00000447066.2_Silent_p.L599L	p.L610L	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN			12	1829	-			610					B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Silent	SNP	ENST00000422840.2	37	c.1830C>G	CCDS45527.1																																																																																				0.443	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201		7	36	0	0	0	1	0	7	36				
TRAK2	66008	broad.mit.edu	37	2	202257694	202257694	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr2:202257694G>A	ENST00000332624.3	-	10	1479	c.1051C>T	c.(1051-1053)Cgt>Tgt	p.R351C		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	351	HAP1 N-terminal.				protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GABA receptor binding (GO:0050811)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						GATCTACTACGAAGTTCCTTT	0.388																																						ENST00000332624.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						c.(1051-1053)Cgt>Tgt		trafficking protein, kinesin binding 2							118.0	120.0	119.0					2																	202257694		2203	4300	6503	SO:0001583	missense	66008					early endosome|plasma membrane	GABA receptor binding	g.chr2:202257694G>A	AB038951	CCDS2347.1	2q33.1	2012-03-05	2005-12-13	2005-12-13	ENSG00000115993	ENSG00000115993			13206	protein-coding gene	gene with protein product	"""gamma-aminobutyric acid(A) receptor-interacting factor"", ""milton homolog 2 (Drosophila)"", ""O-linked N-acetylglucosamine transferase interacting protein 98"""	607334	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3"""	ALS2CR3		11161814, 16380713, 20230862	Standard	NM_015049		Approved	CALS-C, KIAA0549, GRIF-1, OIP98, MILT2	uc002uyb.4	O60296	OTTHUMG00000132822	ENST00000332624.3:c.1051C>T	2.37:g.202257694G>A	ENSP00000328875:p.Arg351Cys						p.R351C	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN			10	1479	-			351	Missing (in Ref. 2).				E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Missense_Mutation	SNP	ENST00000332624.3	37	c.1051C>T	CCDS2347.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.821354	0.90873	.	.	ENSG00000115993	ENST00000332624;ENST00000542292	T	0.28454	1.61	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.59101	0.2169	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.65401	-0.6177	10	0.87932	D	0	.	16.5402	0.84383	0.0:0.0:1.0:0.0	.	351	O60296	TRAK2_HUMAN	C	351;257	ENSP00000328875:R351C	ENSP00000328875:R351C	R	-	1	0	TRAK2	201965939	1.000000	0.71417	0.974000	0.42286	0.979000	0.70002	5.456000	0.66665	2.631000	0.89168	0.655000	0.94253	CGT		0.388	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256284.3	NM_015049		3	15	0	0	0	1	0	3	15				
OR2G6	391211	broad.mit.edu	37	1	248685383	248685383	+	Missense_Mutation	SNP	G	G	A	rs138211669		TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr1:248685383G>A	ENST00000343414.4	+	1	468	c.436G>A	c.(436-438)Ggt>Agt	p.G146S		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	146						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTCTCTGGCCGGTGGAGCATG	0.567																																						ENST00000343414.4																			0				NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(436-438)Ggt>Agt		olfactory receptor, family 2, subfamily G, member 6		G	SER/GLY	1,4405		0,1,2202	68.0	54.0	58.0		436	-6.9	0.0	1	dbSNP_134	58	1,8599		0,1,4299	yes	missense	OR2G6	NM_001013355.1	56	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	146/317	248685383	2,13004	2203	4300	6503	SO:0001583	missense	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685383G>A		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.436G>A	1.37:g.248685383G>A	ENSP00000341291:p.Gly146Ser						p.G146S	NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	468	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	146					B2RP33	Missense_Mutation	SNP	ENST00000343414.4	37	c.436G>A	CCDS31119.1	.	.	.	.	.	.	.	.	.	.	N	0.007	-1.984588	0.00443	2.27E-4	1.16E-4	ENSG00000188558	ENST00000343414	T	0.37584	1.19	3.46	-6.92	0.01644	GPCR, rhodopsin-like superfamily (1);	1.195300	0.06409	N	0.720253	T	0.11922	0.0290	N	0.03891	-0.335	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.27054	-1.0085	10	0.10636	T	0.68	.	6.0929	0.20005	0.1434:0.0:0.4786:0.3779	.	146	Q5TZ20	OR2G6_HUMAN	S	146	ENSP00000341291:G146S	ENSP00000341291:G146S	G	+	1	0	OR2G6	246752006	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.156000	0.10100	-1.731000	0.01360	-1.763000	0.00667	GGT		0.567	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		4	27	0	0	0	1	0	4	27				
OPHN1	4983	broad.mit.edu	37	X	67421524	67421524	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chrX:67421524C>A	ENST00000355520.5	-	11	1603	c.962G>T	c.(961-963)tGt>tTt	p.C321F	OPHN1_ENST00000540071.1_Missense_Mutation_p.C321F	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	321	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|negative regulation of proteasomal protein catabolic process (GO:1901799)|nervous system development (GO:0007399)|regulation of endocytosis (GO:0030100)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|terminal bouton (GO:0043195)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						CCTTCTCACACAGTACTTCAG	0.423																																						ENST00000355520.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						c.(961-963)tGt>tTt		oligophrenin 1							152.0	126.0	135.0					X																	67421524		2203	4300	6503	SO:0001583	missense	4983				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chrX:67421524C>A	AJ001189	CCDS14388.1	Xq12	2011-07-04			ENSG00000079482	ENSG00000079482		"""Rho GTPase activating proteins"""	8148	protein-coding gene	gene with protein product		300127	"""mental retardation, X-linked 60"""	MRX60		9195162, 9582072	Standard	NM_002547		Approved	OPN1, ARHGAP41	uc004dww.4	O60890	OTTHUMG00000021744	ENST00000355520.5:c.962G>T	X.37:g.67421524C>A	ENSP00000347710:p.Cys321Phe					OPHN1_ENST00000540071.1_Missense_Mutation_p.C321F	p.C321F	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN			11	1603	-			321			PH.		B9EIP8|Q5JQ81|Q6PCC1|Q8WX47	Missense_Mutation	SNP	ENST00000355520.5	37	c.962G>T	CCDS14388.1	.	.	.	.	.	.	.	.	.	.	C	19.61	3.859755	0.71834	.	.	ENSG00000079482	ENST00000355520;ENST00000540071	T;T	0.51325	0.71;0.71	4.82	4.82	0.62117	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.72566	0.3476	M	0.89095	3.005	0.80722	D	1	D;D	0.71674	0.988;0.998	D;D	0.78314	0.983;0.991	T	0.78743	-0.2085	10	0.87932	D	0	.	14.4398	0.67309	0.0:1.0:0.0:0.0	.	321;321	F5H2E3;O60890	.;OPHN1_HUMAN	F	321	ENSP00000347710:C321F;ENSP00000438617:C321F	ENSP00000347710:C321F	C	-	2	0	OPHN1	67338249	1.000000	0.71417	0.993000	0.49108	0.960000	0.62799	6.044000	0.71012	2.376000	0.81061	0.600000	0.82982	TGT		0.423	OPHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057011.1	NM_002547		6	62	1	0	2.7689e-08	1	3.07655e-08	6	62				
TANC1	85461	broad.mit.edu	37	2	160082198	160082198	+	Splice_Site	SNP	G	G	A			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr2:160082198G>A	ENST00000263635.6	+	24	4048		c.e24-1		TANC1_ENST00000454300.1_Splice_Site	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1						dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TTGTTTTGCAGGAAATGCTGC	0.498																																						ENST00000263635.6																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						c.e24-1		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1							117.0	113.0	114.0					2																	160082198		2021	4188	6209	SO:0001630	splice_region_variant	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160082198G>A	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.3812-1G>A	2.37:g.160082198G>A						TANC1_ENST00000454300.1_Splice_Site		NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN			24	4048	+								C9JD88|Q49AI8	Splice_Site	SNP	ENST00000263635.6	37		CCDS42766.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.514822	0.85389	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3074	0.94169	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TANC1	159790444	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	9.744000	0.98853	2.562000	0.86427	0.655000	0.94253	.		0.498	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1		Intron	4	23	0	0	0	1	0	4	23				
ZNF33B	7582	broad.mit.edu	37	10	43089526	43089526	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr10:43089526G>C	ENST00000359467.3	-	5	986	c.872C>G	c.(871-873)tCt>tGt	p.S291C	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	291					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)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						ATCATGTTTAGAAAGGGTGGA	0.398																																					Melanoma(137;1247 1767 16772 25727 43810)	ENST00000359467.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						c.(871-873)tCt>tGt		zinc finger protein 33B							102.0	98.0	100.0					10																	43089526		2203	4300	6503	SO:0001583	missense	7582					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:43089526G>C	X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"""Zinc fingers, C2H2-type"", ""-"""	13097	protein-coding gene	gene with protein product		194522	"""zinc finger protein 33b (KOX 31)"", ""zinc finger protein 11B"""	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.872C>G	10.37:g.43089526G>C	ENSP00000352444:p.Ser291Cys					ZNF33B_ENST00000486187.1_RNA	p.S291C	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN			5	986	-			291					Q06731|Q32MA2|Q86XY8|Q8NDW3	Missense_Mutation	SNP	ENST00000359467.3	37	c.872C>G	CCDS7198.1	.	.	.	.	.	.	.	.	.	.	G	6.302	0.423878	0.11928	.	.	ENSG00000196693	ENST00000359467;ENST00000395836	T	0.29142	1.58	2.28	1.12	0.20585	.	1.165310	0.06860	N	0.798993	T	0.26195	0.0639	L	0.45470	1.425	0.09310	N	1	P	0.44877	0.845	B	0.39971	0.315	T	0.21008	-1.0258	10	0.44086	T	0.13	.	5.5158	0.16906	0.8441:0.0:0.1559:0.0	.	291	Q06732	ZN33B_HUMAN	C	291;257	ENSP00000352444:S291C	ENSP00000352444:S291C	S	-	2	0	ZNF33B	42409532	0.000000	0.05858	0.004000	0.12327	0.003000	0.03518	-0.063000	0.11655	0.340000	0.23745	-0.482000	0.04802	TCT		0.398	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_006955		16	63	0	0	0	1	0	16	63				
RBM28	55131	broad.mit.edu	37	7	127965882	127965882	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr7:127965882G>A	ENST00000223073.2	-	11	1306	c.1192C>T	c.(1192-1194)Cca>Tca	p.P398S	RBM28_ENST00000415472.2_Missense_Mutation_p.P257S	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	398	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						TCATTCTCTGGAGAAGCAGCT	0.423																																						ENST00000223073.1																			0				breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						c.(1192-1194)Cca>Tca		RNA binding motif protein 28							50.0	47.0	48.0					7																	127965882		2203	4300	6503	SO:0001583	missense	55131				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding	g.chr7:127965882G>A	AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"""RNA binding motif (RRM) containing"""	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.1192C>T	7.37:g.127965882G>A	ENSP00000223073:p.Pro398Ser					RBM28_ENST00000415472.2_Missense_Mutation_p.P257S	p.P398S	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN			11	1306	-			398			RRM 3.		A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Missense_Mutation	SNP	ENST00000223073.2	37	c.1192C>T	CCDS5801.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.277656	0.40294	.	.	ENSG00000106344	ENST00000223073;ENST00000415472	T;T	0.75367	-0.93;-0.93	6.17	2.15	0.27550	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.646786	0.15814	N	0.243317	T	0.43500	0.1250	N	0.01257	-0.925	0.22693	N	0.998847	B;P;B	0.40000	0.004;0.698;0.004	B;B;B	0.40825	0.029;0.341;0.029	T	0.45775	-0.9238	10	0.07482	T	0.82	0.1059	10.6657	0.45728	0.0812:0.5639:0.3549:0.0	.	257;398;257	E9PDD9;Q9NW13;B4DU52	.;RBM28_HUMAN;.	S	398;257	ENSP00000223073:P398S;ENSP00000390517:P257S	ENSP00000223073:P398S	P	-	1	0	RBM28	127753118	1.000000	0.71417	0.994000	0.49952	0.919000	0.55068	0.866000	0.27954	0.441000	0.26529	-0.176000	0.13171	CCA		0.423	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2	NM_018077		3	24	0	0	0	1	0	3	24				
TSHZ1	10194	broad.mit.edu	37	18	72999603	72999603	+	Silent	SNP	C	C	T			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr18:72999603C>T	ENST00000580243.1	+	2	2589	c.2241C>T	c.(2239-2241)agC>agT	p.S747S	TSHZ1_ENST00000322038.5_Silent_p.S702S			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	747					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		ACCCGCTGAGCGCTTTGCAGT	0.572																																						ENST00000322038.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42						c.(2104-2106)agC>agT		teashirt zinc finger homeobox 1							89.0	82.0	85.0					18																	72999603		2203	4300	6503	SO:0001819	synonymous_variant	10194					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:72999603C>T	AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	10669	protein-coding gene	gene with protein product		614427	"""serologically defined colon cancer antigen 33"", ""teashirt zinc finger 1"", ""teashirt family zinc finger 1"""	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.2241C>T	18.37:g.72999603C>T						TSHZ1_ENST00000580243.1_Silent_p.S747S	p.S702S	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)	2	2690	+		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)	747					O60534|Q4LE29|Q53EU4	Silent	SNP	ENST00000580243.1	37	c.2106C>T																																																																																					0.572	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		8	31	0	0	0	1	0	8	31				
ZFP37	7539	broad.mit.edu	37	9	115805689	115805689	+	Silent	SNP	C	C	T			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr9:115805689C>T	ENST00000374227.3	-	4	1236	c.1209G>A	c.(1207-1209)aaG>aaA	p.K403K	ZFP37_ENST00000553380.1_Silent_p.K418K|ZFP37_ENST00000555206.1_Silent_p.K404K	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	403					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						ATTCATATGGCTTCTCACCTG	0.398																																						ENST00000374227.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						c.(1207-1209)aaG>aaA		ZFP37 zinc finger protein							116.0	115.0	115.0					9																	115805689		2203	4300	6503	SO:0001819	synonymous_variant	7539					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:115805689C>T	AF022158	CCDS6787.1, CCDS65109.1, CCDS65110.1	9q32	2013-01-08	2012-11-27		ENSG00000136866	ENSG00000136866		"""Zinc fingers, C2H2-type"", ""-"""	12863	protein-coding gene	gene with protein product		602951	"""zinc finger protein homologous to Zfp37 in mouse"", ""zinc finger protein 37 homolog (mouse)"""				Standard	NM_001282515		Approved	ZNF906	uc004bgm.1	Q9Y6Q3	OTTHUMG00000021019	ENST00000374227.3:c.1209G>A	9.37:g.115805689C>T						ZFP37_ENST00000553380.1_Silent_p.K418K|ZFP37_ENST00000555206.1_Silent_p.K404K	p.K403K			Q9Y6Q3	ZFP37_HUMAN			4	1236	-			403					A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Silent	SNP	ENST00000374227.3	37	c.1209G>A	CCDS6787.1																																																																																				0.398	ZFP37-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055439.1	NM_003408		4	60	0	0	0	1	0	4	60				
PLEKHH2	130271	broad.mit.edu	37	2	43970042	43970042	+	Missense_Mutation	SNP	G	G	A	rs554674373		TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr2:43970042G>A	ENST00000282406.4	+	22	3494	c.3384G>A	c.(3382-3384)atG>atA	p.M1128I		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1128	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGCACTTCATGAATGGGATAT	0.413																																						ENST00000282406.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(3382-3384)atG>atA		pleckstrin homology domain containing, family H (with MyTH4 domain) member 2							148.0	135.0	139.0					2																	43970042		2203	4300	6503	SO:0001583	missense	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43970042G>A	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.3384G>A	2.37:g.43970042G>A	ENSP00000282406:p.Met1128Ile						p.M1128I	NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN			22	3494	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	1128			FERM.		Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	c.3384G>A	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.305949	0.40795	.	.	ENSG00000152527	ENST00000282406	T	0.75477	-0.94	5.3	3.32	0.38043	Band 4.1 domain (1);FERM domain (1);	0.213506	0.49916	D	0.000133	T	0.68842	0.3045	L	0.49350	1.555	0.49483	D	0.999793	B	0.30793	0.295	B	0.33521	0.165	T	0.64820	-0.6317	10	0.22706	T	0.39	-19.1704	14.8776	0.70507	0.0:0.2727:0.7273:0.0	.	1128	Q8IVE3	PKHH2_HUMAN	I	1128	ENSP00000282406:M1128I	ENSP00000282406:M1128I	M	+	3	0	PLEKHH2	43823546	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.209000	0.51122	1.165000	0.42670	0.563000	0.77884	ATG		0.413	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		9	48	0	0	0	1	0	9	48				
CROCCP2	84809	broad.mit.edu	37	1	16959732	16959733	+	lincRNA	INS	-	-	GGGCCTGCAGCA	rs12063740|rs372501429|rs112000683|rs148795493	byFrequency	TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr1:16959732_16959733insGGGCCTGCAGCA	ENST00000412962.1	-	0	74							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CTCCTCCAGCTGGGCCTGCTTC	0.668														1937	0.386781	0.4644	0.3818	5008	,	,		54334	0.3363		0.3439	False		,,,				2504	0.3814					ENST00000412962.1																			0																																																			84809							g.chr1:16959732_16959733insGGGCCTGCAGCA	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16959732_16959733insGGGCCTGCAGCA														0	74	-								Q8NF65|Q96FR5|Q9BRE8	RNA	INS	ENST00000412962.1	37																																																																																						0.668	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		7	26						7	26	---	---	---	---
SESN2	83667	broad.mit.edu	37	1	28598377	28598378	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr1:28598377_28598378insT	ENST00000253063.3	+	3	670_671	c.349_350insT	c.(349-351)atcfs	p.I117fs		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	117					autophagy (GO:0006914)|fatty acid beta-oxidation (GO:0006635)|glucose import (GO:0046323)|mitochondrial DNA metabolic process (GO:0032042)|protein kinase B signaling (GO:0043491)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of response to reactive oxygen species (GO:1901031)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		CTACATTGCCATCATGGTGAGC	0.569																																						ENST00000253063.3																			0				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(349-351)catfs		sestrin 2																																				SO:0001589	frameshift_variant	83667				cell cycle arrest	cytoplasm|nucleus		g.chr1:28598377_28598378insT	AY123223	CCDS321.1	1p35.2	2008-02-05			ENSG00000130766	ENSG00000130766			20746	protein-coding gene	gene with protein product		607767				12607115, 12203114	Standard	NM_031459		Approved	SES2, DKFZp761M0212, HI95, SEST2	uc001bps.3	P58004	OTTHUMG00000003532	ENST00000253063.3:c.350dupT	1.37:g.28598378_28598378dupT	ENSP00000253063:p.Ile117fs						p.H117fs	NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)	3	670_671	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	117					Q5T7D0|Q96SI5	Frame_Shift_Ins	INS	ENST00000253063.3	37	c.349_350insT	CCDS321.1																																																																																				0.569	SESN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009840.1			18	50						18	50	---	---	---	---
S100A7L2	645922	broad.mit.edu	37	1	153410822	153410822	+	Splice_Site	SNP	C	C	A	rs10888561	byFrequency	TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr1:153410822C>A	ENST00000368725.2	-	2	16	c.17G>T	c.(16-18)gGc>gTc	p.G6V		NM_001045479.1	NP_001038944.2	Q5SY68	S1A7B_HUMAN	S100 calcium binding protein A7-like 2	0							calcium ion binding (GO:0005509)			NS(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TTTCAAAAAGCCTTCAGGAAA	0.408													C|||	3076	0.614217	0.5	0.7061	5008	,	,		22923	0.6042		0.7376	False		,,,				2504	0.5869					ENST00000368725.2																			0				NS(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8						c.e2-1		S100 calcium binding protein A7-like 2		C	VAL/GLY	2349,2057		632,1085,486	109.0	96.0	100.0		17	-1.5	0.0	1	dbSNP_120	100	6331,2269		2331,1669,300	yes	missense-near-splice	S100A7L2	NM_001045479.1	109	2963,2754,786	AA,AC,CC		26.3837,46.6863,33.2616	benign	6/113	153410822	8680,4326	2203	4300	6503	SO:0001630	splice_region_variant	645922							g.chr1:153410822C>A			1q21.3	2013-01-10			ENSG00000197364	ENSG00000197364		"""EF-hand domain containing"""	21655	protein-coding gene	gene with protein product							Standard	NM_001045479		Approved	s100a7b	uc010pdx.2	Q5SY68	OTTHUMG00000013129	ENST00000368725.2:c.17-1G>T	1.37:g.153410822C>A							p.G6_splice	NM_001045479.1	NP_001038944.2			LUSC - Lung squamous cell carcinoma(543;0.171)		2	16	-	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)								Splice_Site	SNP	ENST00000368725.2	37	c.16_splice		1382	0.6327838827838828	242	0.491869918699187	264	0.7292817679558011	311	0.5437062937062938	565	0.7453825857519789	.	9.346	1.064220	0.20067	0.533137	0.736163	ENSG00000197364	ENST00000453814	T	0.12361	2.69	1.36	-1.48	0.08745	.	.	.	.	.	T	0.04724	0.0128	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.38001	-0.9681	5	0.66056	D	0.02	.	2.9716	0.05925	0.0:0.2884:0.405:0.3066	rs10888561	.	.	.	V	6	ENSP00000405610:G6V	ENSP00000405610:G6V	G	-	2	0	S100A7L2	151677446	0.005000	0.15991	0.001000	0.08648	0.001000	0.01503	-0.069000	0.11542	-0.390000	0.07774	-0.714000	0.03626	GGC		0.408	S100A7L2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000036797.2	NM_001045479	Missense_Mutation	4	22	1	0	1	1	1	4	22				
DOK1	1796	broad.mit.edu	37	2	74783880	74783881	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr2:74783880_74783881insT	ENST00000233668.5	+	5	1754_1755	c.1085_1086insT	c.(1084-1089)tatgatfs	p.D363fs	DOK1_ENST00000340004.6_3'UTR|DOK1_ENST00000409429.1_Frame_Shift_Ins_p.D224fs|DOK1_ENST00000480318.1_3'UTR|LOXL3_ENST00000393937.2_5'Flank|LOXL3_ENST00000409986.1_5'Flank|M1AP_ENST00000464686.1_5'Flank|LOXL3_ENST00000264094.3_5'Flank	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN	docking protein 1, 62kDa (downstream of tyrosine kinase 1)	363	Pro-rich.				cell surface receptor signaling pathway (GO:0007166)|insulin receptor signaling pathway (GO:0008286)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor signaling protein activity (GO:0005057)			endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						GATCCCATCTATGATGAACCTG	0.574																																					Esophageal Squamous(36;520 860 12502 33616 51270)	ENST00000233668.5																			0				endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1084-1086)tgafs		docking protein 1, 62kDa (downstream of tyrosine kinase 1)																																				SO:0001589	frameshift_variant	1796				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding	g.chr2:74783880_74783881insT	U70987	CCDS1954.1, CCDS56125.1	2p13	2008-05-21	2002-08-29		ENSG00000115325	ENSG00000115325			2990	protein-coding gene	gene with protein product		602919	"""docking protein 1, 62kD (downstream of tyrosine kinase 1)"""			9008160, 9790776, 15546884	Standard	NM_001381		Approved	p62dok	uc002sms.3	Q99704	OTTHUMG00000129956	ENST00000233668.5:c.1086dupT	2.37:g.74783881_74783881dupT	ENSP00000233668:p.Asp363fs					DOK1_ENST00000480318.1_3'UTR|DOK1_ENST00000340004.6_3'UTR|DOK1_ENST00000409429.1_Frame_Shift_Ins_p.*223fs	p.*362fs	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN			5	1754_1755	+			362			Pro-rich.		O43204|Q53TY2|Q9UHG6	Frame_Shift_Ins	INS	ENST00000233668.5	37	c.1085_1086insT	CCDS1954.1																																																																																				0.574	DOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252218.3	NM_001381		11	72						11	72	---	---	---	---
RFC1	5981	broad.mit.edu	37	4	39314498	39314500	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr4:39314498_39314500delCTC	ENST00000381897.1	-	11	1388_1390	c.1255_1257delGAG	c.(1255-1257)gagdel	p.E419del	RFC1_ENST00000349703.2_In_Frame_Del_p.E419del	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	419	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						GTTCAATAGACTCCAGCACGCCT	0.409																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)	ENST00000381897.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1255-1257)del		replication factor C (activator 1) 1, 145kDa																																				SO:0001651	inframe_deletion	5981				DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding	g.chr4:39314498_39314500delCTC	L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"""ATPases / AAA-type"""	9969	protein-coding gene	gene with protein product		102579	"""replication factor C (activator 1) 1 (145kD)"""			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.1255_1257delGAG	4.37:g.39314498_39314500delCTC	ENSP00000371321:p.Glu419del					RFC1_ENST00000349703.2_In_Frame_Del_p.E419del	p.E419del	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN			11	1388_1390	-			419			BRCT.		A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	In_Frame_Del	DEL	ENST00000381897.1	37	c.1255_1257delGAG	CCDS56329.1																																																																																				0.409	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	NM_002913		21	88						21	88	---	---	---	---
POU4F2	5458	broad.mit.edu	37	4	147560458	147560466	+	In_Frame_Del	DEL	GGCGGCGGC	GGCGGCGGC	-	rs189899086|rs72269802		TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr4:147560458_147560466delGGCGGCGGC	ENST00000281321.3	+	1	414_422	c.166_174delGGCGGCGGC	c.(166-174)ggcggcggcdel	p.GGG65del	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	65	Poly-Gly.				axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					CGCTggtggtggcggcggcggcggcggcg	0.761																																						ENST00000281321.3																			0				NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33						c.(166-174)del		POU class 4 homeobox 2																																				SO:0001651	inframe_deletion	5458				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr4:147560458_147560466delGGCGGCGGC	U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.166_174delGGCGGCGGC	4.37:g.147560467_147560475delGGCGGCGGC	ENSP00000281321:p.Gly65_Gly67del					AC093887.1_ENST00000584185.1_RNA	p.GGG65del	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN			1	414_422	+	all_hematologic(180;0.151)		65			Poly-Gly.		B1PJR6|B2RC84|Q13883|Q14987	In_Frame_Del	DEL	ENST00000281321.3	37	c.166_174delGGCGGCGGC	CCDS34074.1																																																																																				0.761	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575		11	14						11	14	---	---	---	---
C1QTNF3	114899	broad.mit.edu	37	5	34033456	34033457	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr5:34033456_34033457insA	ENST00000231338.7	-	3	390_391	c.303_304insT	c.(301-306)catggcfs	p.G102fs	C1QTNF3_ENST00000513065.1_5'Flank|RP11-1084J3.4_ENST00000382079.3_Frame_Shift_Ins_p.G86fs|C1QTNF3_ENST00000382065.3_Frame_Shift_Ins_p.G175fs	NM_030945.3	NP_112207.1	Q9BXJ4	C1QT3_HUMAN	C1q and tumor necrosis factor related protein 3	102	Collagen-like.				cellular triglyceride homeostasis (GO:0035356)|fat cell differentiation (GO:0045444)|negative regulation of gene expression (GO:0010629)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of monocyte chemotactic protein-1 production (GO:0071638)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of cytokine secretion (GO:0050715)|protein trimerization (GO:0070206)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17	all_lung(31;0.0207)					CCTTTGGGGCCATGCTGCCCCC	0.569																																						ENST00000382065.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17						c.(520-525)cagcccfs		C1q and tumor necrosis factor related protein 3																																				SO:0001589	frameshift_variant	114899					collagen		g.chr5:34033456_34033457insA	AF329837	CCDS3904.1, CCDS34141.1	5p13	2009-05-20			ENSG00000082196	ENSG00000082196			14326	protein-coding gene	gene with protein product	"""cartonectin"""	612045				18421280	Standard	NM_030945		Approved	CTRP3, Cors, Corcs, 2310005P21Rik, Cors-26	uc003jio.3	Q9BXJ4	OTTHUMG00000090735	ENST00000231338.7:c.304dupT	5.37:g.34033457_34033457dupA	ENSP00000231338:p.Gly102fs					C1QTNF3_ENST00000231338.7_Frame_Shift_Ins_p.QP101fs	p.QP174fs	NM_181435.5	NP_852100.3	Q9BXJ4	C1QT3_HUMAN			3	1228_1229	-	all_lung(31;0.0207)		101			C1q.		Q0VAN4|Q542Y2|Q6MZN1|Q96KY1	Frame_Shift_Ins	INS	ENST00000231338.7	37	c.522_523insT	CCDS3904.1																																																																																				0.569	C1QTNF3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207469.1	NM_030945		7	75						7	75	---	---	---	---
SCAPER	49855	broad.mit.edu	37	15	76958026	76958026	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr15:76958026delT	ENST00000563290.1	-	21	2708	c.2613delA	c.(2611-2613)aaafs	p.K871fs	SCAPER_ENST00000324767.7_Frame_Shift_Del_p.K871fs|SCAPER_ENST00000538941.2_Frame_Shift_Del_p.K625fs			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	871						endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						TCTTTTTGGCTTTTTTTTTAT	0.338																																						ENST00000538941.2																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						c.(1873-1875)aafs		S-phase cyclin A-associated protein in the ER			,	7,48,3395		0,0,7,6,36,1676	66.0	59.0	61.0		,	5.9	1.0	15		62	26,139,7613		0,0,26,27,85,3751	no	codingComplex,codingComplex	SCAPER	NM_020843.2,NM_001145923.1	,	0,0,33,33,121,5427	A1A1,A1A2,A1R,A2A2,A2R,RR		2.1214,1.5942,1.9594	,	,	76958026	33,187,11008	1782	4047	5829	SO:0001589	frameshift_variant	49855					endoplasmic reticulum|nucleus	zinc ion binding	g.chr15:76958026delT	AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"""Zinc fingers, C2H2-type"""	13081	protein-coding gene	gene with protein product		611611	"""zinc finger protein 291"""	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.2613delA	15.37:g.76958026delT	ENSP00000454973:p.Lys871fs					SCAPER_ENST00000324767.7_Frame_Shift_Del_p.K871fs|SCAPER_ENST00000563290.1_Frame_Shift_Del_p.K871fs	p.K625fs	NM_001145923.1	NP_001139395.1	Q9BY12	SCAPE_HUMAN			21	2814	-			870			Glu-rich.		F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Frame_Shift_Del	DEL	ENST00000563290.1	37	c.1875delA	CCDS53962.1																																																																																				0.338	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1	NM_020843		2	4						2	4	---	---	---	---
ZNF598	90850	broad.mit.edu	37	16	2049882	2049883	+	In_Frame_Ins	INS	-	-	TCC	rs61746014|rs377495742|rs370831505|rs141374045	byFrequency	TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr16:2049882_2049883insTCC	ENST00000563630.1	-	9	1744_1745	c.1502_1503insGGA	c.(1501-1503)gac>gaGGAc	p.500_501insE	ZNF598_ENST00000431526.1_In_Frame_Ins_p.555_556insE|ZNF598_ENST00000562103.1_In_Frame_Ins_p.500_501insE|AC005606.15_ENST00000567515.1_lincRNA			Q86UK7	ZN598_HUMAN	zinc finger protein 598	555							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E555_D556insE(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						CCGGGCCGCCGTCCTCCTCCTC	0.703														518	0.103435	0.0061	0.1801	5008	,	,		13556	0.0387		0.1501	False		,,,				2504	0.1994					ENST00000563630.1																			1	Insertion - In frame(1)	p.E555_D556insE(1)	kidney(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						c.(1501-1503)ggg>gGGAgg		zinc finger protein 598																																				SO:0001652	inframe_insertion	90850					intracellular	zinc ion binding	g.chr16:2049882_2049883insTCC	BC029270		16p13.3	2008-05-02				ENSG00000167962		"""Zinc fingers, C2H2-type"""	28079	protein-coding gene	gene with protein product							Standard	NM_178167		Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000563630.1:c.1500_1502dupGGA	16.37:g.2049889_2049891dupTCC	ENSP00000455882:p.Glu500_Glu500dup					ZNF598_ENST00000562103.1_In_Frame_Ins_p.501_502insR|ZNF598_ENST00000431526.1_In_Frame_Ins_p.556_557insR	p.501_502insR			Q86UK7	ZN598_HUMAN			9	1744_1745	-			556					Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	In_Frame_Ins	INS	ENST00000563630.1	37	c.1502_1503insGGA																																																																																					0.703	ZNF598-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000434439.1	NM_178167		5	8						5	8	---	---	---	---
C19orf35	374872	broad.mit.edu	37	19	2279061	2279061	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr19:2279061delG	ENST00000342063.3	-	3	227	c.134delC	c.(133-135)cctfs	p.P45fs		NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN	chromosome 19 open reading frame 35	45										large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGGGACCCAGGGGTCCGGAG	0.687																																						ENST00000342063.3																			0				large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8						c.(133-135)ctfs		chromosome 19 open reading frame 35							13.0	13.0	13.0					19																	2279061		2160	4259	6419	SO:0001589	frameshift_variant	374872							g.chr19:2279061delG	AK127680	CCDS12087.1	19p13.3	2012-10-26			ENSG00000188305	ENSG00000188305			24793	protein-coding gene	gene with protein product							Standard	NM_198532		Approved	FLJ45778	uc002lvn.2	Q6ZS72	OTTHUMG00000178460	ENST00000342063.3:c.134delC	19.37:g.2279061delG	ENSP00000345102:p.Pro45fs						p.P45fs	NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	227	-			45						Frame_Shift_Del	DEL	ENST00000342063.3	37	c.134delC	CCDS12087.1																																																																																				0.687	C19orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442080.1	NM_198532		2	4						2	4	---	---	---	---
