#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
TNFRSF12A	51330	broad.mit.edu	37	16	3071909	3071909	+	3'UTR	SNP	G	G	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr16:3071909G>T	ENST00000326577.4	+	0	558				THOC6_ENST00000253952.9_5'Flank|CLDN6_ENST00000396925.1_5'Flank|THOC6_ENST00000575576.1_5'Flank|TNFRSF12A_ENST00000341627.5_3'UTR|THOC6_ENST00000326266.8_5'Flank|TNFRSF12A_ENST00000575124.1_Missense_Mutation_p.R212L|TNFRSF12A_ENST00000573001.1_3'UTR|THOC6_ENST00000574549.1_5'Flank	NM_016639.2	NP_057723.1	Q9NP84	TNR12_HUMAN	tumor necrosis factor receptor superfamily, member 12A						angiogenesis (GO:0001525)|extrinsic apoptotic signaling pathway (GO:0097191)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axon extension (GO:0045773)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|regulation of angiogenesis (GO:0045765)|regulation of wound healing (GO:0061041)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)				lung(1)|skin(1)	2						TCCCAGACGCGGCGGGAGCCA	0.632																																						ENST00000575124.1																			0				lung(1)|skin(1)	2						c.(634-636)cGg>cTg		tumor necrosis factor receptor superfamily, member 12A																																				SO:0001624	3_prime_UTR_variant	51330				angiogenesis|apoptosis	integral to membrane	receptor activity	g.chr16:3071909G>T	AB035480	CCDS10489.1	16p13.3	2008-02-05			ENSG00000006327	ENSG00000006327		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	18152	protein-coding gene	gene with protein product		605914				10751351, 10551889	Standard	NM_016639		Approved	FN14, TweakR, CD266	uc002csv.4	Q9NP84	OTTHUMG00000129001	ENST00000326577.4:c.*82G>T	16.37:g.3071909G>T						TNFRSF12A_ENST00000573001.1_3'UTR|TNFRSF12A_ENST00000341627.5_3'UTR|TNFRSF12A_ENST00000326577.4_3'UTR	p.R212L			Q9NP84	TNR12_HUMAN			3	658	+			106					D3DUA6|Q9HCS0	Missense_Mutation	SNP	ENST00000326577.4	37	c.635G>T	CCDS10489.1																																																																																				0.632	TNFRSF12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250990.1			5	13	1	0	0.0215528	1	0.0219023	5	13				
TP53	7157	broad.mit.edu	37	17	7577534	7577534	+	Missense_Mutation	SNP	C	C	G	rs28934571		TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr17:7577534C>G	ENST00000269305.4	-	7	936	c.747G>C	c.(745-747)agG>agC	p.R249S	TP53_ENST00000445888.2_Missense_Mutation_p.R249S|TP53_ENST00000420246.2_Missense_Mutation_p.R249S|TP53_ENST00000359597.4_Missense_Mutation_p.R249S|TP53_ENST00000455263.2_Missense_Mutation_p.R249S|TP53_ENST00000413465.2_Missense_Mutation_p.R249S|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	249	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> I (in a sporadic cancer; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> M (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934571). {ECO:0000269|PubMed:1694291, ECO:0000269|PubMed:16959974}.|R -> T (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R249S(348)|p.0?(8)|p.R249R(5)|p.?(5)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.R249_P250insR(1)|p.R249_P250>SS(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*14(1)|p.R249_T256delRPILTIIT(1)|p.P250fs*14(1)|p.R249_I251delRPI(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)	TGAGGATGGGCCTCCGGTTCA	0.572		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"""		378	Substitution - Missense(348)|Deletion - In frame(8)|Whole gene deletion(8)|Unknown(5)|Substitution - coding silent(5)|Insertion - Frameshift(1)|Insertion - In frame(1)|Deletion - Frameshift(1)|Complex - compound substitution(1)	p.R249S(348)|p.0?(8)|p.R249R(5)|p.?(5)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.R249_P250insR(1)|p.R249_P250>SS(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*14(1)|p.R249_T256delRPILTIIT(1)|p.P250fs*14(1)|p.R249_I251delRPI(1)	liver(240)|lung(44)|upper_aerodigestive_tract(12)|breast(12)|central_nervous_system(10)|stomach(7)|ovary(6)|prostate(6)|cervix(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(5)|biliary_tract(5)|urinary_tract(5)|bone(4)|endometrium(3)|oesophagus(3)|skin(2)|peritoneum(1)|kidney(1)|salivary_gland(1)|pancreas(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						c.(745-747)agG>agC	Other conserved DNA damage response genes	tumor protein p53							155.0	113.0	127.0					17																	7577534		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.chr17:7577534C>G	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.747G>C	17.37:g.7577534C>G	ENSP00000269305:p.Arg249Ser	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Missense_Mutation_p.R249S|TP53_ENST00000269305.4_Missense_Mutation_p.R249S|TP53_ENST00000413465.2_Missense_Mutation_p.R249S|TP53_ENST00000455263.2_Missense_Mutation_p.R249S|TP53_ENST00000445888.2_Missense_Mutation_p.R249S	p.R249S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	879	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	249		R -> G (in sporadic cancers; somatic mutation).|R -> I (in a sporadic cancer; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in sporadic cancers; somatic mutation; dbSNP:rs28934571).|R -> T (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.747G>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.281263	0.59758	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99865	-7.29;-7.29;-7.29;-7.29;-7.29;-7.29;-7.29	4.62	-0.0929	0.13654	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99792	0.9912	M	0.92367	3.3	0.50039	D	0.999848	D;D;D;D;D	0.89917	0.996;0.996;0.997;0.99;1.0	D;D;D;D;D	0.79108	0.968;0.966;0.981;0.955;0.992	D	0.98720	1.0708	10	0.72032	D	0.01	-3.0658	3.2479	0.06803	0.1392:0.5551:0.1362:0.1695	.	249;249;249;249;249	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	S	249;249;249;249;249;249;238;117	ENSP00000410739:R249S;ENSP00000352610:R249S;ENSP00000269305:R249S;ENSP00000398846:R249S;ENSP00000391127:R249S;ENSP00000391478:R249S;ENSP00000425104:R117S	ENSP00000269305:R249S	R	-	3	2	TP53	7518259	0.011000	0.17503	0.998000	0.56505	0.783000	0.44284	-1.379000	0.02554	0.253000	0.21552	0.462000	0.41574	AGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		47	38	0	0	0	1	0	47	38				
CSAD	51380	broad.mit.edu	37	12	53555162	53555162	+	Silent	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr12:53555162C>T	ENST00000444623.1	-	11	981	c.714G>A	c.(712-714)ccG>ccA	p.P238P	RP11-1136G11.8_ENST00000550908.1_lincRNA|CSAD_ENST00000453446.2_Silent_p.P238P|CSAD_ENST00000379843.3_Silent_p.P91P|CSAD_ENST00000267085.4_Silent_p.P265P|CSAD_ENST00000379846.1_Silent_p.P91P	NM_001244705.1	NP_001231634.1	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	238					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|taurine biosynthetic process (GO:0042412)		pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)	TGACCAGGAACGGCACAGCAC	0.552																																					Ovarian(109;252 1546 16882 28524 44645)	ENST00000267085.4																			0				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14						c.(793-795)ccG>ccA		cysteine sulfinic acid decarboxylase	L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)						88.0	89.0	89.0					12																	53555162		2203	4300	6503	SO:0001819	synonymous_variant	51380				carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity	g.chr12:53555162C>T	AB044561	CCDS8848.2, CCDS58235.1	12q13.11-q14.3	2008-08-04			ENSG00000139631	ENSG00000139631			18966	protein-coding gene	gene with protein product	"""P-selectin cytoplasmic tail-associated protein"""					15489334	Standard	NM_015989		Approved	PCAP, CSD	uc001sbz.3	Q9Y600	OTTHUMG00000048076	ENST00000444623.1:c.714G>A	12.37:g.53555162C>T						CSAD_ENST00000453446.2_Silent_p.P238P|CSAD_ENST00000444623.1_Silent_p.P238P|CSAD_ENST00000379846.1_Silent_p.P91P|CSAD_ENST00000379843.3_Silent_p.P91P	p.P265P	NM_001244706.1|NM_015989.4	NP_001231635.1|NP_057073.4	Q9Y600	CSAD_HUMAN			11	1028	-			238					A8K0U4|Q4QQH9|Q9UNJ5|Q9Y601	Silent	SNP	ENST00000444623.1	37	c.795G>A	CCDS58235.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.132|9.132	1.011694|1.011694	0.19277|0.19277	.|.	.|.	ENSG00000139631|ENSG00000139631	ENST00000544139|ENST00000379850	.|.	.|.	.|.	4.42|4.42	-8.85|-8.85	0.00799|0.00799	.|.	.|.	.|.	.|.	.|.	T|T	0.44540|0.44540	0.1298|0.1298	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999996|0.999996	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.51020|0.51020	-0.8758|-0.8758	5|4	0.87932|.	D|.	0|.	-13.3358|-13.3358	6.2164|6.2164	0.20658|0.20658	0.0899:0.4127:0.3628:0.1347|0.0899:0.4127:0.3628:0.1347	.|.	.|.	.|.	.|.	H|I	256|264	.|.	ENSP00000436800:R256H|.	R|V	-|-	2|1	0|0	CSAD|CSAD	51841429|51841429	0.000000|0.000000	0.05858|0.05858	0.340000|0.340000	0.25575|0.25575	0.985000|0.985000	0.73830|0.73830	-3.398000|-3.398000	0.00484|0.00484	-2.594000|-2.594000	0.00455|0.00455	-0.378000|-0.378000	0.06908|0.06908	CGT|GTT		0.552	CSAD-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343697.1	NM_015989		6	81	0	0	0	1	0	6	81				
RNF115	27246	broad.mit.edu	37	1	145650515	145650515	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr1:145650515A>G	ENST00000369291.5	+	3	398	c.194A>G	c.(193-195)aAt>aGt	p.N65S		NM_014455.2	NP_055270.1			ring finger protein 115											breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						CGGATAGACAATACCACAACA	0.403																																						ENST00000369291.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(193-195)aAt>aGt		ring finger protein 115							133.0	128.0	130.0					1																	145650515		2203	4300	6503	SO:0001583	missense	27246				protein autoubiquitination	cytosol	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:145650515A>G	AF419857	CCDS72863.1	1q12	2013-01-09	2008-06-16	2008-06-16	ENSG00000121848	ENSG00000265491		"""RING-type (C3HC4) zinc fingers"""	18154	protein-coding gene	gene with protein product			"""zinc finger protein 364"""	ZNF364			Standard	NM_014455		Approved	CL469780	uc001eoj.3	Q9Y4L5	OTTHUMG00000013758	ENST00000369291.5:c.194A>G	1.37:g.145650515A>G	ENSP00000358297:p.Asn65Ser						p.N65S	NM_014455.2	NP_055270.1	Q9Y4L5	RN115_HUMAN			3	398	+			65						Missense_Mutation	SNP	ENST00000369291.5	37	c.194A>G	CCDS922.1	.	.	.	.	.	.	.	.	.	.	A	6.677	0.493466	0.12702	.	.	ENSG00000121848	ENST00000369291	T	0.11604	2.76	4.75	2.44	0.29823	.	0.117297	0.53938	N	0.000046	T	0.00784	0.0026	N	0.02011	-0.69	0.27148	N	0.961474	B	0.14012	0.009	B	0.09377	0.004	T	0.46303	-0.9201	10	0.07482	T	0.82	-5.6786	5.9651	0.19320	0.7916:0.0:0.2084:0.0	.	65	Q9Y4L5	RN115_HUMAN	S	65	ENSP00000358297:N65S	ENSP00000358297:N65S	N	+	2	0	RNF115	144361872	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.171000	0.31896	0.339000	0.23719	0.533000	0.62120	AAT		0.403	RNF115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038554.2	NM_014455		22	47	0	0	0	1	0	22	47				
TRAV8-7	28679	broad.mit.edu	37	14	22600915	22600915	+	RNA	SNP	G	G	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr14:22600915G>A	ENST00000390456.3	+	0	260									T cell receptor alpha variable 8-7 (non-functional)																		TTTAAGAAGAGCGAAACCTCC	0.507																																						ENST00000390456.3																			0																				62.0	63.0	63.0					14																	22600915		1991	4161	6152			28679							g.chr14:22600915G>A	AE000660		14q11.2	2012-02-07	2008-09-11		ENSG00000211808	ENSG00000211808		"""T cell receptors / TRA locus"""	12152	other	T cell receptor gene			"""T cell receptor alpha variable 8-7"""			8188290	Standard	NG_001332		Approved				OTTHUMG00000170655		14.37:g.22600915G>A														0	260	+									RNA	SNP	ENST00000390456.3	37																																																																																						0.507	TRAV8-7-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409903.1	NG_001332		13	41	0	0	0	1	0	13	41				
UBAP2L	9898	broad.mit.edu	37	1	154221753	154221753	+	Silent	SNP	A	A	G			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr1:154221753A>G	ENST00000361546.2	+	11	1095	c.1053A>G	c.(1051-1053)gaA>gaG	p.E351E	UBAP2L_ENST00000343815.6_Silent_p.E351E|UBAP2L_ENST00000428931.1_Silent_p.E351E|UBAP2L_ENST00000271877.7_Silent_p.E362E			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	351					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ATGTCGGTGAAGCTAAAGGCG	0.488																																						ENST00000428931.1																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50						c.(1051-1053)gaA>gaG		ubiquitin associated protein 2-like							149.0	142.0	145.0					1																	154221753		2203	4300	6503	SO:0001819	synonymous_variant	9898				binding of sperm to zona pellucida		protein binding	g.chr1:154221753A>G	BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.1053A>G	1.37:g.154221753A>G						UBAP2L_ENST00000343815.6_Silent_p.E351E|UBAP2L_ENST00000271877.7_Silent_p.E362E|UBAP2L_ENST00000361546.2_Silent_p.E351E	p.E351E	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		12	1220	+	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		351					B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Silent	SNP	ENST00000361546.2	37	c.1053A>G	CCDS1063.1																																																																																				0.488	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087673.1	NM_014847		20	95	0	0	0	1	0	20	95				
PRRT3	285368	broad.mit.edu	37	3	9991857	9991857	+	Splice_Site	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr3:9991857C>T	ENST00000412055.1	-	2	73		c.e2-1		PRRT3-AS1_ENST00000431558.1_RNA|PRRT3_ENST00000411976.2_Splice_Site	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3							integral component of membrane (GO:0016021)				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						CTGGATGAGCCTAAAAAAAAA	0.572																																						ENST00000412055.1																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						c.e2-1		proline-rich transmembrane protein 3																																				SO:0001630	splice_region_variant	285368					integral to membrane		g.chr3:9991857C>T	AK090993	CCDS43049.1	3p25.3	2011-10-10			ENSG00000163704	ENSG00000163704		"""Proline-rich transmembrane proteins"""	26591	protein-coding gene	gene with protein product							Standard	NM_207351		Approved	FLJ33674	uc003bul.2	Q5FWE3	OTTHUMG00000155285	ENST00000412055.1:c.57-1G>A	3.37:g.9991857C>T						PRRT3-AS1_ENST00000431558.1_RNA|PRRT3_ENST00000411976.2_Splice_Site		NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN			2	73	-								Q49AD0|Q6UXY6|Q8NBC9	Splice_Site	SNP	ENST00000412055.1	37		CCDS43049.1																																																																																				0.572	PRRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339322.1	NM_207351	Intron	5	3	0	0	0	1	0	5	3				
GIT2	9815	broad.mit.edu	37	12	110370840	110370840	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr12:110370840G>T	ENST00000355312.3	-	20	2222	c.2223C>A	c.(2221-2223)gaC>gaA	p.D741E	GIT2_ENST00000338373.5_Missense_Mutation_p.D643E|GIT2_ENST00000360185.4_Missense_Mutation_p.D691E|GIT2_ENST00000551209.1_Missense_Mutation_p.D690E|GIT2_ENST00000548655.1_5'Flank|GIT2_ENST00000361006.5_Missense_Mutation_p.D711E|GIT2_ENST00000343646.5_Missense_Mutation_p.D631E|GIT2_ENST00000553118.1_Missense_Mutation_p.D613E|GIT2_ENST00000457474.2_Missense_Mutation_p.D663E|GIT2_ENST00000354574.4_Missense_Mutation_p.D663E|GIT2_ENST00000356259.4_Missense_Mutation_p.D628E	NM_057169.3	NP_476510.1	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	741					behavioral response to pain (GO:0048266)|regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						CCTTGGCGATGTCGTACGCAC	0.567																																						ENST00000360185.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						c.(2071-2073)gaC>gaA		G protein-coupled receptor kinase interacting ArfGAP 2							162.0	136.0	145.0					12																	110370840		2203	4300	6503	SO:0001583	missense	9815				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr12:110370840G>T	AF124491	CCDS9138.1, CCDS9139.1, CCDS44968.1, CCDS44969.1, CCDS55884.1	12q24.1	2013-01-10	2008-09-05			ENSG00000139436		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	4273	protein-coding gene	gene with protein product		608564	"""G protein-coupled receptor kinase interactor 2"""			9826657, 10896954	Standard	NM_139201		Approved	KIAA0148	uc001tps.2	Q14161	OTTHUMG00000169313	ENST00000355312.3:c.2223C>A	12.37:g.110370840G>T	ENSP00000347464:p.Asp741Glu					GIT2_ENST00000553118.1_Missense_Mutation_p.D613E|GIT2_ENST00000355312.3_Missense_Mutation_p.D741E|GIT2_ENST00000356259.4_Missense_Mutation_p.D628E|GIT2_ENST00000338373.5_Missense_Mutation_p.D643E|GIT2_ENST00000343646.5_Missense_Mutation_p.D631E|GIT2_ENST00000551209.1_Missense_Mutation_p.D690E|GIT2_ENST00000457474.2_Missense_Mutation_p.D663E|GIT2_ENST00000361006.5_Missense_Mutation_p.D711E|GIT2_ENST00000354574.4_Missense_Mutation_p.D663E	p.D691E			Q14161	GIT2_HUMAN			19	2237	-			741					Q86U59|Q96CI2|Q9BV91|Q9Y5V2	Missense_Mutation	SNP	ENST00000355312.3	37	c.2073C>A	CCDS9138.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.817780	0.90790	.	.	ENSG00000139436	ENST00000355312;ENST00000360185;ENST00000354574;ENST00000338373;ENST00000343646;ENST00000356259;ENST00000457474;ENST00000361006;ENST00000553118;ENST00000551209	T;T;T;T;T;T;T;T;T;T	0.79845	-1.05;-1.28;-1.03;-0.94;-1.17;-0.87;-1.0;-1.02;-1.04;-1.31	5.53	4.64	0.57946	G protein-coupled receptor kinase-interacting protein 1 C term (1);	0.000000	0.85682	D	0.000000	D	0.87434	0.6176	M	0.65975	2.015	0.35236	D	0.777402	D;P;D;P;B	0.69078	0.997;0.889;0.99;0.711;0.292	D;D;D;P;B	0.76575	0.988;0.943;0.979;0.679;0.344	D	0.90263	0.4302	10	0.41790	T	0.15	.	13.2296	0.59936	0.076:0.0:0.924:0.0	.	663;663;613;741;711	Q14161-10;F8WAK2;Q14161-11;Q14161;Q14161-5	.;.;.;GIT2_HUMAN;.	E	741;691;663;643;631;628;663;711;613;690	ENSP00000347464:D741E;ENSP00000353312:D691E;ENSP00000346585:D663E;ENSP00000340342:D643E;ENSP00000340938:D631E;ENSP00000348595:D628E;ENSP00000391813:D663E;ENSP00000354282:D711E;ENSP00000447465:D613E;ENSP00000448832:D690E	ENSP00000340342:D643E	D	-	3	2	GIT2	108855223	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.780000	0.75063	1.335000	0.45486	0.455000	0.32223	GAC		0.567	GIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403407.1	NM_057169		10	47	1	0	3.86212e-05	1	4.0563e-05	10	47				
SNX19	399979	broad.mit.edu	37	11	130785621	130785621	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr11:130785621C>T	ENST00000265909.4	-	1	783	c.214G>A	c.(214-216)Gtg>Atg	p.V72M	SNX19_ENST00000533318.1_Intron|SNX19_ENST00000528555.1_Intron|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.V72M|SNX19_ENST00000530356.1_Intron	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	72					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		CCTGAAGCCACTCCAGCGAGG	0.607																																						ENST00000265909.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35						c.(214-216)Gtg>Atg		sorting nexin 19							66.0	55.0	59.0					11																	130785621		2201	4297	6498	SO:0001583	missense	399979				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	g.chr11:130785621C>T	D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"""Sorting nexins"""	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.214G>A	11.37:g.130785621C>T	ENSP00000265909:p.Val72Met					SNX19_ENST00000533318.1_Intron|SNX19_ENST00000528555.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.V72M|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000539184.1_Intron	p.V72M	NM_014758.2	NP_055573.2	Q92543	SNX19_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)	1	783	-	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)	72					E9PKB9|Q8IV55	Missense_Mutation	SNP	ENST00000265909.4	37	c.214G>A	CCDS31721.1	.	.	.	.	.	.	.	.	.	.	C	6.326	0.428192	0.11987	.	.	ENSG00000120451	ENST00000265909;ENST00000533214	T;T	0.14022	2.96;2.54	4.8	3.88	0.44766	.	0.519385	0.21032	N	0.081340	T	0.07954	0.0199	N	0.14661	0.345	0.28324	N	0.922087	B;B	0.26845	0.05;0.161	B;B	0.28232	0.054;0.087	T	0.15954	-1.0419	10	0.48119	T	0.1	-7.074	6.4936	0.22130	0.0:0.6786:0.1528:0.1686	.	72;72	E9PKB9;Q92543	.;SNX19_HUMAN	M	72	ENSP00000265909:V72M;ENSP00000435390:V72M	ENSP00000265909:V72M	V	-	1	0	SNX19	130290831	0.010000	0.17322	0.002000	0.10522	0.004000	0.04260	2.194000	0.42668	1.221000	0.43506	0.455000	0.32223	GTG		0.607	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385649.1	NM_014758		17	35	0	0	0	1	0	17	35				
LINGO1	84894	broad.mit.edu	37	15	77906970	77906970	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr15:77906970G>A	ENST00000355300.6	-	2	1453	c.1279C>T	c.(1279-1281)Cgg>Tgg	p.R427W	LINGO1_ENST00000561030.1_Missense_Mutation_p.R421W	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	427	Ig-like C2-type.				central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						TTGCGGTCCCGGATGCGGGCG	0.672																																						ENST00000355300.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(1279-1281)Cgg>Tgg		leucine rich repeat and Ig domain containing 1							11.0	16.0	14.0					15																	77906970		2032	4136	6168	SO:0001583	missense	84894				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane		g.chr15:77906970G>A	AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"""Immunoglobulin superfamily / I-set domain containing"""	21205	protein-coding gene	gene with protein product		609791	"""leucine rich repeat neuronal 6A"""	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.1279C>T	15.37:g.77906970G>A	ENSP00000347451:p.Arg427Trp					LINGO1_ENST00000561030.1_Missense_Mutation_p.R421W	p.R427W	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN			2	1453	-			427			Ig-like C2-type.		D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Missense_Mutation	SNP	ENST00000355300.6	37	c.1279C>T	CCDS45313.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.912654	0.52439	.	.	ENSG00000169783	ENST00000355300	T	0.54866	0.55	4.55	4.55	0.56014	Immunoglobulin-like (1);	0.108809	0.64402	D	0.000006	T	0.66386	0.2784	M	0.75264	2.295	0.58432	D	0.999999	D	0.71674	0.998	P	0.54965	0.765	T	0.68773	-0.5320	10	0.37606	T	0.19	.	17.3021	0.87185	0.0:0.0:1.0:0.0	.	427	Q96FE5	LIGO1_HUMAN	W	427	ENSP00000347451:R427W	ENSP00000347451:R427W	R	-	1	2	LINGO1	75694025	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.157000	0.71846	2.074000	0.62210	0.462000	0.41574	CGG		0.672	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1	NM_032808		3	25	0	0	0	1	0	3	25				
FMNL3	91010	broad.mit.edu	37	12	50041554	50041554	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr12:50041554C>T	ENST00000293590.5	-	23	2943	c.2710G>A	c.(2710-2712)Gag>Aag	p.E904K	FMNL3_ENST00000335154.5_Missense_Mutation_p.E904K|FMNL3_ENST00000352151.5_Missense_Mutation_p.E853K|FMNL3_ENST00000550488.1_Missense_Mutation_p.E903K			Q8IVF7	FMNL3_HUMAN	formin-like 3	904	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						TTGGGACTCTCGCCAAAGTAG	0.517																																						ENST00000335154.5																			0				breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						c.(2710-2712)Gag>Aag		formin-like 3							96.0	98.0	97.0					12																	50041554		2001	4165	6166	SO:0001583	missense	91010				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr12:50041554C>T	AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.2710G>A	12.37:g.50041554C>T	ENSP00000293590:p.Glu904Lys					FMNL3_ENST00000293590.5_Missense_Mutation_p.E904K|FMNL3_ENST00000550488.1_Missense_Mutation_p.E903K|FMNL3_ENST00000352151.5_Missense_Mutation_p.E853K	p.E904K	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN			23	2943	-			904			FH2.		B0JZA7|Q6ZRJ1	Missense_Mutation	SNP	ENST00000293590.5	37	c.2710G>A		.	.	.	.	.	.	.	.	.	.	C	29.3	4.992125	0.93167	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	T;T;T;T	0.20069	2.1;2.1;2.1;2.1	4.69	4.69	0.59074	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.58821	0.2149	H	0.94620	3.56	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.982;0.989	T	0.71464	-0.4585	10	0.66056	D	0.02	.	16.8911	0.86087	0.0:1.0:0.0:0.0	.	853;904;904	Q8IVF7-2;Q8IVF7-3;Q8IVF7	.;.;FMNL3_HUMAN	K	904;903;853;904	ENSP00000335655:E904K;ENSP00000447479:E903K;ENSP00000344311:E853K;ENSP00000293590:E904K	ENSP00000293590:E904K	E	-	1	0	FMNL3	48327821	1.000000	0.71417	0.985000	0.45067	0.981000	0.71138	7.600000	0.82769	2.593000	0.87608	0.650000	0.86243	GAG		0.517	FMNL3-201	KNOWN	basic	protein_coding	protein_coding		NM_175736		19	48	0	0	0	1	0	19	48				
CUL2	8453	broad.mit.edu	37	10	35299242	35299242	+	Silent	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr10:35299242C>T	ENST00000374748.1	-	22	2548	c.2235G>A	c.(2233-2235)gcG>gcA	p.A745A	CUL2_ENST00000374746.1_Silent_p.A706A|CUL2_ENST00000602371.1_Silent_p.A688A|CUL2_ENST00000374749.3_Silent_p.A745A|CUL2_ENST00000374751.3_Silent_p.A745A|CUL2_ENST00000537177.1_Silent_p.A764A|CUL2_ENST00000374742.1_Silent_p.A706A			Q13617	CUL2_HUMAN	cullin 2	745					cell cycle arrest (GO:0007050)|cellular response to hypoxia (GO:0071456)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|VCB complex (GO:0030891)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						AGCGACATCACGCGACGTAGC	0.473																																						ENST00000374748.1																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						c.(2233-2235)gcG>gcA		cullin 2							130.0	104.0	113.0					10																	35299242		2203	4300	6503	SO:0001819	synonymous_variant	8453				cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr10:35299242C>T	U83410	CCDS7179.1, CCDS73086.1	10p11.2	2011-05-24			ENSG00000108094	ENSG00000108094			2552	protein-coding gene	gene with protein product		603135				8681378	Standard	NM_003591		Approved		uc021ppa.1	Q13617	OTTHUMG00000017950	ENST00000374748.1:c.2235G>A	10.37:g.35299242C>T						CUL2_ENST00000374742.1_Silent_p.A706A|CUL2_ENST00000602371.1_Silent_p.A688A|CUL2_ENST00000374751.3_Silent_p.A745A|CUL2_ENST00000537177.1_Silent_p.A764A|CUL2_ENST00000374746.1_Silent_p.A706A|CUL2_ENST00000374749.3_Silent_p.A745A	p.A745A			Q13617	CUL2_HUMAN			22	2548	-			745					B3KT95|B7Z6K8|D3DRY6|G3V1S2|O00200|Q5T2B6|Q9UNF9	Silent	SNP	ENST00000374748.1	37	c.2235G>A	CCDS7179.1																																																																																				0.473	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047538.1	NM_003591		6	46	0	0	0	1	0	6	46				
HSPA13	6782	broad.mit.edu	37	21	15746392	15746392	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr21:15746392G>C	ENST00000285667.3	-	5	1029	c.962C>G	c.(961-963)cCt>cGt	p.P321R	HSPA13_ENST00000544452.1_Missense_Mutation_p.P113R	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	321						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						ACTACTGTGAGGTTCCTTCCT	0.448																																						ENST00000285667.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						c.(961-963)cCt>cGt		heat shock protein 70kDa family, member 13							121.0	93.0	102.0					21																	15746392		2203	4300	6503	SO:0001583	missense	6782					endoplasmic reticulum|microsome	ATP binding	g.chr21:15746392G>C		CCDS13567.1	21q11.1	2011-09-02	2008-06-17	2008-06-17	ENSG00000155304	ENSG00000155304		"""Heat shock proteins / HSP70"""	11375	protein-coding gene	gene with protein product		601100	"""stress 70 protein chaperone, microsome-associated, 60kD"", ""stress 70 protein chaperone, microsome-associated, 60kDa"""	STCH		8825657	Standard	NM_006948		Approved		uc002yjt.3	P48723	OTTHUMG00000074261	ENST00000285667.3:c.962C>G	21.37:g.15746392G>C	ENSP00000285667:p.Pro321Arg					HSPA13_ENST00000544452.1_Missense_Mutation_p.P113R	p.P321R	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN			5	1029	-			321					B2R616|Q8NE40	Missense_Mutation	SNP	ENST00000285667.3	37	c.962C>G	CCDS13567.1	.	.	.	.	.	.	.	.	.	.	G	8.083	0.772845	0.16051	.	.	ENSG00000155304	ENST00000285667;ENST00000544452	T;T	0.09445	4.76;2.98	5.44	5.44	0.79542	.	7.872830	0.00166	N	0.000000	T	0.18383	0.0441	M	0.69523	2.12	0.28177	N	0.928336	B	0.06786	0.001	B	0.08055	0.003	T	0.37361	-0.9709	10	0.87932	D	0	-6.9488	6.8713	0.24123	0.1116:0.1799:0.7085:0.0	.	321	P48723	HSP13_HUMAN	R	321;113	ENSP00000285667:P321R;ENSP00000441986:P113R	ENSP00000285667:P321R	P	-	2	0	HSPA13	14668263	0.999000	0.42202	0.465000	0.27155	0.229000	0.25112	3.807000	0.55591	2.937000	0.99478	0.650000	0.86243	CCT		0.448	HSPA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157815.1			30	34	0	0	0	1	0	30	34				
NME8	51314	broad.mit.edu	37	7	37890269	37890269	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr7:37890269G>A	ENST00000199447.4	+	5	502	c.130G>A	c.(130-132)Gca>Aca	p.A44T	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Missense_Mutation_p.A44T	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	44	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										ACCTTGCAGAGCAATGCAACC	0.348																																						ENST00000199447.4																			0											c.(130-132)Gca>Aca		NME/NM23 family member 8							108.0	119.0	115.0					7																	37890269		2203	4300	6503	SO:0001583	missense	51314				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr7:37890269G>A	AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 2"""	607421	"""thioredoxin domain containing 3 (spermatozoa)"""	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.130G>A	7.37:g.37890269G>A	ENSP00000199447:p.Ala44Thr					NME8_ENST00000440017.1_Missense_Mutation_p.A44T|EPDR1_ENST00000476620.1_Intron	p.A44T	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN			5	502	+			44			Thioredoxin.		Q9NZH1	Missense_Mutation	SNP	ENST00000199447.4	37	c.130G>A	CCDS5452.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.697931	0.68386	.	.	ENSG00000086288	ENST00000199447;ENST00000440017	T;T	0.24538	1.85;1.85	5.01	5.01	0.66863	Thioredoxin domain (1);Thioredoxin, conserved site (1);Thioredoxin-like fold (3);	0.000000	0.53938	D	0.000058	T	0.47040	0.1424	M	0.69185	2.1	0.40902	D	0.984169	D	0.64830	0.994	D	0.67382	0.951	T	0.48790	-0.9004	10	0.72032	D	0.01	-26.0274	13.2287	0.59929	0.0:0.1603:0.8397:0.0	.	44	Q8N427	TXND3_HUMAN	T	44	ENSP00000199447:A44T;ENSP00000397063:A44T	ENSP00000199447:A44T	A	+	1	0	TXNDC3	37856794	1.000000	0.71417	1.000000	0.80357	0.686000	0.39977	3.677000	0.54619	2.481000	0.83766	0.561000	0.74099	GCA		0.348	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616		50	112	0	0	0	1	0	50	112				
MAML3	55534	broad.mit.edu	37	4	140811264	140811264	+	Silent	SNP	C	C	T	rs61737612	byFrequency	TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr4:140811264C>T	ENST00000509479.2	-	2	2182	c.1326G>A	c.(1324-1326)ccG>ccA	p.P442P	MAML3_ENST00000398940.1_5'Flank|MAML3_ENST00000327122.5_Silent_p.P286P	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					TCACTGCTGCCGGATTCAGGA	0.587													C|||	4	0.000798722	0.0023	0.0014	5008	,	,		19692	0.0		0.0	False		,,,				2504	0.0					ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1324-1326)ccG>ccA		mastermind-like 3 (Drosophila)		C		19,4203		0,19,2092	53.0	51.0	52.0		1326	-9.8	0.0	4	dbSNP_129	52	0,8506		0,0,4253	no	coding-synonymous	MAML3	NM_018717.4		0,19,6345	TT,TC,CC		0.0,0.45,0.1493		442/1139	140811264	19,12709	2111	4253	6364	SO:0001819	synonymous_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811264C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1326G>A	4.37:g.140811264C>T						MAML3_ENST00000327122.5_Silent_p.P286P	p.P442P	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2182	-	all_hematologic(180;0.162)		442						Silent	SNP	ENST00000509479.2	37	c.1326G>A	CCDS54805.1																																																																																				0.587	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			5	48	0	0	0	1	0	5	48				
CHRM3	1131	broad.mit.edu	37	1	240070964	240070964	+	Silent	SNP	C	C	T	rs199705116		TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr1:240070964C>T	ENST00000255380.4	+	5	992	c.213C>T	c.(211-213)atC>atT	p.I71I		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	71					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	TGGTCTTCATCGCTTTCTTAA	0.512													C|||	1	0.000199681	0.0	0.0	5008	,	,		19986	0.0		0.001	False		,,,				2504	0.0					ENST00000255380.4																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51						c.(211-213)atC>atT		cholinergic receptor, muscarinic 3	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)						145.0	125.0	132.0					1																	240070964		2203	4300	6503	SO:0001819	synonymous_variant	1131				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr1:240070964C>T	U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.213C>T	1.37:g.240070964C>T							p.I71I	NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	992	+	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	71					Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Silent	SNP	ENST00000255380.4	37	c.213C>T	CCDS1616.1																																																																																				0.512	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		22	71	0	0	0	1	0	22	71				
BPHL	670	broad.mit.edu	37	6	3123964	3123964	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr6:3123964C>T	ENST00000380379.5	+	2	230	c.181C>T	c.(181-183)Cac>Tac	p.H61Y	BPHL_ENST00000380375.3_Missense_Mutation_p.H44Y|BPHL_ENST00000380368.2_Missense_Mutation_p.H44Y|BPHL_ENST00000434640.1_Missense_Mutation_p.H44Y	NM_004332.2	NP_004323.2	Q86WA6	BPHL_HUMAN	biphenyl hydrolase-like (serine hydrolase)	61					cellular amino acid metabolic process (GO:0006520)|response to toxic substance (GO:0009636)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)	13	Ovarian(93;0.0386)	all_hematologic(90;0.108)				AGAGGGAGATCACGCAGTCCT	0.458																																						ENST00000380368.2																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(6)	13						c.(130-132)Cac>Tac		biphenyl hydrolase-like (serine hydrolase)							157.0	135.0	143.0					6																	3123964		2203	4300	6503	SO:0001583	missense	670				cellular amino acid metabolic process|response to toxin	mitochondrion	hydrolase activity	g.chr6:3123964C>T	X81372	CCDS4483.2	6p25	2008-08-29	2008-08-29		ENSG00000137274	ENSG00000137274			1094	protein-coding gene	gene with protein product	"""breast epithelial mucin-associated antigen"""	603156		MCNAA		7759552, 9721218, 15832508	Standard	NM_004332		Approved	Bph-rp	uc003mva.3	Q86WA6	OTTHUMG00000014140	ENST00000380379.5:c.181C>T	6.37:g.3123964C>T	ENSP00000369739:p.His61Tyr					BPHL_ENST00000434640.1_Missense_Mutation_p.H44Y|BPHL_ENST00000380379.5_Missense_Mutation_p.H61Y|BPHL_ENST00000380375.3_Missense_Mutation_p.H44Y	p.H44Y			Q86WA6	BPHL_HUMAN			3	774	+	Ovarian(93;0.0386)	all_hematologic(90;0.108)	61					Q00306|Q13855|Q3KP51	Missense_Mutation	SNP	ENST00000380379.5	37	c.130C>T	CCDS4483.2	.	.	.	.	.	.	.	.	.	.	C	19.67	3.870403	0.72065	.	.	ENSG00000137274	ENST00000434640;ENST00000380375;ENST00000380368;ENST00000380379	T;T;T	0.76186	-1.0;-1.0;-1.0	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.82926	0.5143	M	0.61703	1.905	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.75484	0.969;0.986	D	0.83486	0.0067	10	0.62326	D	0.03	-1.2624	19.4939	0.95064	0.0:1.0:0.0:0.0	.	61;44	Q86WA6;Q86WA6-2	BPHL_HUMAN;.	Y	44;44;44;61	ENSP00000390472:H44Y;ENSP00000369734:H44Y;ENSP00000369739:H61Y	ENSP00000369726:H44Y	H	+	1	0	BPHL	3068963	1.000000	0.71417	0.064000	0.19789	0.440000	0.31957	6.893000	0.75649	2.606000	0.88127	0.563000	0.77884	CAC		0.458	BPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039670.5			26	85	0	0	0	1	0	26	85				
SPHKAP	80309	broad.mit.edu	37	2	228883981	228883981	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr2:228883981G>C	ENST00000392056.3	-	7	1635	c.1589C>G	c.(1588-1590)cCa>cGa	p.P530R	SPHKAP_ENST00000344657.5_Missense_Mutation_p.P530R	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	530						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ACTGCTCCCTGGGGGAAAGTT	0.507																																						ENST00000392056.3																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(1588-1590)cCa>cGa		SPHK1 interactor, AKAP domain containing							68.0	61.0	63.0					2																	228883981		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228883981G>C		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.1589C>G	2.37:g.228883981G>C	ENSP00000375909:p.Pro530Arg					SPHKAP_ENST00000344657.5_Missense_Mutation_p.P530R	p.P530R	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	1635	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	530					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.1589C>G	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	0.053	-1.243534	0.01481	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.42900	0.96;0.96	6.03	-0.839	0.10759	.	1.379380	0.04279	N	0.343512	T	0.21631	0.0521	N	0.08118	0	0.09310	N	1	B;B	0.22080	0.012;0.064	B;B	0.23574	0.01;0.047	T	0.14200	-1.0481	10	0.19147	T	0.46	.	4.8063	0.13321	0.4177:0.0:0.3352:0.2471	.	530;530	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	R	530	ENSP00000375909:P530R;ENSP00000339886:P530R	ENSP00000339886:P530R	P	-	2	0	SPHKAP	228592225	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.759000	0.04761	-0.366000	0.08064	-0.294000	0.09567	CCA		0.507	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		14	86	0	0	0	1	0	14	86				
WDR41	55255	broad.mit.edu	37	5	76758924	76758924	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr5:76758924A>G	ENST00000296679.4	-	4	719	c.344T>C	c.(343-345)gTt>gCt	p.V115A	WDR41_ENST00000507029.1_Missense_Mutation_p.V60A|WDR41_ENST00000414719.2_5'UTR	NM_018268.2	NP_060738.2	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	115						lysosomal membrane (GO:0005765)				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		GGATACAATAACTGTTCTATC	0.378																																						ENST00000296679.4																			0				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14						c.(343-345)gTt>gCt		WD repeat domain 41							84.0	84.0	84.0					5																	76758924		2203	4300	6503	SO:0001583	missense	55255							g.chr5:76758924A>G	AF115511	CCDS4038.1	5q14	2013-01-09			ENSG00000164253	ENSG00000164253		"""WD repeat domain containing"""	25601	protein-coding gene	gene with protein product						12477932	Standard	NM_018268		Approved	FLJ10904	uc003kff.1	Q9HAD4	OTTHUMG00000102169	ENST00000296679.4:c.344T>C	5.37:g.76758924A>G	ENSP00000296679:p.Val115Ala					WDR41_ENST00000507029.1_Missense_Mutation_p.V60A|WDR41_ENST00000414719.2_5'UTR	p.V115A	NM_018268.2	NP_060738.2	Q9HAD4	WDR41_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)	4	719	-		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)	115					B4DT55|Q7Z792|Q8IWG3|Q8IXA9|Q8NDA7|Q9NV62	Missense_Mutation	SNP	ENST00000296679.4	37	c.344T>C	CCDS4038.1	.	.	.	.	.	.	.	.	.	.	A	17.85	3.490010	0.64074	.	.	ENSG00000164253	ENST00000296679;ENST00000515253;ENST00000507029;ENST00000514559;ENST00000511036;ENST00000504895;ENST00000509971	T;T;T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21	5.81	5.81	0.92471	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.113790	0.64402	D	0.000012	T	0.63686	0.2532	L	0.56396	1.775	0.80722	D	1	P;P	0.36683	0.517;0.565	B;B	0.34824	0.171;0.19	T	0.64275	-0.6446	10	0.38643	T	0.18	-19.7196	15.8267	0.78711	1.0:0.0:0.0:0.0	.	60;115	B4DT55;Q9HAD4	.;WDR41_HUMAN	A	115;108;60;115;110;107;112	ENSP00000296679:V115A;ENSP00000426499:V108A;ENSP00000424287:V60A;ENSP00000426937:V115A;ENSP00000422510:V110A;ENSP00000426141:V107A;ENSP00000422922:V112A	ENSP00000296679:V115A	V	-	2	0	WDR41	76794680	1.000000	0.71417	0.921000	0.36526	0.963000	0.63663	6.303000	0.72794	2.230000	0.72887	0.528000	0.53228	GTT		0.378	WDR41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220014.2	NM_018268		13	19	0	0	0	1	0	13	19				
IQCH	64799	broad.mit.edu	37	15	67664575	67664575	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr15:67664575G>C	ENST00000335894.4	+	9	946	c.880G>C	c.(880-882)Gct>Cct	p.A294P	IQCH_ENST00000360277.4_Missense_Mutation_p.A46P|IQCH_ENST00000358767.3_Missense_Mutation_p.A121P|IQCH_ENST00000546225.1_Missense_Mutation_p.A42P	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	294										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		TTTTAGCTTAGCTTGGGGAGG	0.393																																						ENST00000335894.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33						c.(880-882)Gct>Cct		IQ motif containing H							108.0	107.0	107.0					15																	67664575		2201	4299	6500	SO:0001583	missense	64799							g.chr15:67664575G>C	AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.880G>C	15.37:g.67664575G>C	ENSP00000336861:p.Ala294Pro					IQCH_ENST00000546225.1_Missense_Mutation_p.A42P|IQCH_ENST00000358767.3_Missense_Mutation_p.A121P|IQCH_ENST00000360277.4_Missense_Mutation_p.A46P	p.A294P	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN		Colorectal(3;0.0856)	9	946	+			294					A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Missense_Mutation	SNP	ENST00000335894.4	37	c.880G>C	CCDS32273.1	.	.	.	.	.	.	.	.	.	.	G	4.835	0.155226	0.09236	.	.	ENSG00000103599	ENST00000358767;ENST00000546225;ENST00000335894;ENST00000360277	T;T;T;T	0.44881	0.92;0.93;0.93;0.91	5.63	-1.14	0.09741	.	0.782162	0.12662	N	0.449530	T	0.17152	0.0412	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.22146	0.065;0.003;0.003;0.001;0.049	B;B;B;B;B	0.21708	0.036;0.005;0.005;0.005;0.017	T	0.14309	-1.0477	10	0.35671	T	0.21	0.1551	1.9308	0.03327	0.2496:0.0838:0.171:0.4957	.	121;42;46;294;121	F8WAL8;Q86VS3-2;Q86VS3-4;Q86VS3;Q86VS3-3	.;.;.;IQCH_HUMAN;.	P	121;42;294;46	ENSP00000351617:A121P;ENSP00000444118:A42P;ENSP00000336861:A294P;ENSP00000353419:A46P	ENSP00000336861:A294P	A	+	1	0	IQCH	65451629	0.001000	0.12720	0.001000	0.08648	0.553000	0.35397	0.447000	0.21710	0.015000	0.14971	0.655000	0.94253	GCT		0.393	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256969.1	NM_022784		6	58	0	0	0	1	0	6	58				
TTN	7273	broad.mit.edu	37	2	179443337	179443337	+	Splice_Site	SNP	C	C	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr2:179443337C>A	ENST00000591111.1	-	271	63631		c.e271+1		TTN_ENST00000589042.1_Splice_Site|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN_ENST00000460472.2_Splice_Site|TTN_ENST00000342992.6_Splice_Site|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Splice_Site|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Splice_Site|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAACAAAATACCTGTAATTGG	0.408																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.e321+1		titin							62.0	59.0	60.0					2																	179443337		1829	4094	5923	SO:0001630	splice_region_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179443337C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.63406+1G>T	2.37:g.179443337C>A						TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Splice_Site|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Splice_Site|TTN_ENST00000359218.5_Splice_Site|TTN_ENST00000342992.6_Splice_Site|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Splice_Site|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA		NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		321	68554	-								A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Splice_Site	SNP	ENST00000591111.1	37			.	.	.	.	.	.	.	.	.	.	C	18.84	3.709040	0.68615	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.008	0.97439	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TTN	179151583	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	6.035000	0.70940	2.726000	0.93360	0.650000	0.86243	.		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	Intron	8	22	1	0	0.00448238	1	0.00460485	8	22				
SYNE1	23345	broad.mit.edu	37	6	152469240	152469240	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr6:152469240C>T	ENST00000367255.5	-	137	25517	c.24916G>A	c.(24916-24918)Gag>Aag	p.E8306K	SYNE1_ENST00000354674.4_Missense_Mutation_p.E461K|SYNE1_ENST00000356820.4_Missense_Mutation_p.E2830K|SYNE1_ENST00000539504.1_Missense_Mutation_p.E461K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E8235K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E7918K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E8306K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E8235K|SYNE1_ENST00000347037.5_5'UTR	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8306					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTTCATCCTCAGAGGGCAGA	0.542										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(24916-24918)Gag>Aag		spectrin repeat containing, nuclear envelope 1							60.0	60.0	60.0					6																	152469240		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152469240C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.24916G>A	6.37:g.152469240C>T	ENSP00000356224:p.Glu8306Lys	HNSCC(10;0.0054)				SYNE1_ENST00000354674.4_Missense_Mutation_p.E461K|SYNE1_ENST00000539504.1_Missense_Mutation_p.E461K|SYNE1_ENST00000356820.4_Missense_Mutation_p.E2830K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E8235K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E8306K|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000423061.1_Missense_Mutation_p.E8235K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E7918K	p.E8306K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	137	25517	-		Ovarian(120;0.0955)	8306					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.24916G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	19.74	3.883324	0.72410	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.58210	0.44;4.47;1.41;0.43;0.35;0.43;0.6;2.52;1.41;4.42	5.11	4.24	0.50183	.	0.000000	0.56097	D	0.000037	T	0.45696	0.1355	M	0.69823	2.125	0.31391	N	0.677812	P;P;P;P;B	0.47350	0.894;0.894;0.858;0.777;0.013	B;B;P;B;B	0.48952	0.297;0.297;0.596;0.391;0.007	T	0.49123	-0.8972	10	0.51188	T	0.08	.	11.4153	0.49949	0.0:0.9143:0.0:0.0857	.	8306;8306;8235;8235;508	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	K	8306;461;952;8235;8306;8235;7918;2830;468;463;1228;461	ENSP00000356224:E8306K;ENSP00000441052:E461K;ENSP00000356226:E952K;ENSP00000396024:E8235K;ENSP00000265368:E8306K;ENSP00000390975:E8235K;ENSP00000341887:E7918K;ENSP00000349276:E2830K;ENSP00000356220:E1228K;ENSP00000346701:E461K	ENSP00000265368:E8306K	E	-	1	0	SYNE1	152510933	1.000000	0.71417	0.877000	0.34402	0.755000	0.42902	6.956000	0.76013	1.148000	0.42385	0.563000	0.77884	GAG		0.542	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		11	45	0	0	0	1	0	11	45				
OR5M8	219484	broad.mit.edu	37	11	56258603	56258603	+	Nonsense_Mutation	SNP	C	C	A	rs373976847		TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr11:56258603C>A	ENST00000327216.2	-	1	268	c.244G>T	c.(244-246)Gag>Tag	p.E82*		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	82						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					AGGAAAATCTCCAGCATCTTT	0.478																																						ENST00000327216.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(244-246)Gag>Tag		olfactory receptor, family 5, subfamily M, member 8							87.0	82.0	84.0					11																	56258603		2201	4296	6497	SO:0001587	stop_gained	219484				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56258603C>A	AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"""GPCR / Class A : Olfactory receptors"""	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.244G>T	11.37:g.56258603C>A	ENSP00000323354:p.Glu82*						p.E82*	NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN			1	268	-	Esophageal squamous(21;0.00352)		82					B2RNM5|Q6IEW3|Q96RB8	Nonsense_Mutation	SNP	ENST00000327216.2	37	c.244G>T	CCDS31533.1	.	.	.	.	.	.	.	.	.	.	C	4.899	0.167001	0.09339	.	.	ENSG00000181371	ENST00000327216	.	.	.	4.13	-0.152	0.13407	.	0.198759	0.24511	U	0.037892	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-4.8905	3.9449	0.09344	0.0:0.3872:0.1916:0.4212	.	.	.	.	X	82	.	ENSP00000323354:E82X	E	-	1	0	OR5M8	56015179	0.000000	0.05858	0.086000	0.20670	0.003000	0.03518	-1.756000	0.01813	0.017000	0.15025	-0.292000	0.09595	GAG		0.478	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1	NM_001005282		12	60	1	0	2.80697e-09	1	3.12255e-09	12	60				
CD209	30835	broad.mit.edu	37	19	7807999	7807999	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr19:7807999C>T	ENST00000315599.7	-	7	1163	c.1141G>A	c.(1141-1143)Gca>Aca	p.A381T	CD209_ENST00000394173.4_Missense_Mutation_p.A220T|CD209_ENST00000593660.1_Missense_Mutation_p.A311T|CD209_ENST00000301357.8_Missense_Mutation_p.A245T|CD209_ENST00000601951.1_Missense_Mutation_p.A357T|CD209_ENST00000315591.8_Missense_Mutation_p.A357T|CD209_ENST00000204801.8_Missense_Mutation_p.A337T|CD209_ENST00000602261.1_Missense_Mutation_p.A289T|CD209_ENST00000394161.5_Missense_Mutation_p.A145T|CD209_ENST00000354397.6_Missense_Mutation_p.A375T|CD209_ENST00000593821.1_Missense_Mutation_p.A245T	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	381					antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CAGGAGGCTGCGGACTTTTTG	0.532																																						ENST00000315599.7																			0				endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1141-1143)Gca>Aca		CD209 molecule							163.0	161.0	161.0					19																	7807999		2203	4300	6503	SO:0001583	missense	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7807999C>T	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"""C-type lectin domain containing"", ""CD molecules"""	1641	protein-coding gene	gene with protein product		604672	"""CD209 antigen"""			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.1141G>A	19.37:g.7807999C>T	ENSP00000315477:p.Ala381Thr					CD209_ENST00000593821.1_Missense_Mutation_p.A245T|CD209_ENST00000593660.1_Missense_Mutation_p.A311T|CD209_ENST00000394161.5_Missense_Mutation_p.A145T|CD209_ENST00000394173.4_Missense_Mutation_p.A220T|CD209_ENST00000601951.1_Missense_Mutation_p.A357T|CD209_ENST00000301357.8_Missense_Mutation_p.A245T|CD209_ENST00000204801.8_Missense_Mutation_p.A337T|CD209_ENST00000602261.1_Missense_Mutation_p.A289T|CD209_ENST00000315591.8_Missense_Mutation_p.A357T|CD209_ENST00000354397.6_Missense_Mutation_p.A375T	p.A381T	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN			7	1163	-			381					A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Missense_Mutation	SNP	ENST00000315599.7	37	c.1141G>A	CCDS12186.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.577048	0.45902	.	.	ENSG00000090659	ENST00000315599;ENST00000354397;ENST00000315591;ENST00000204801;ENST00000394173;ENST00000301357;ENST00000394161	T;T;T;T;T;T	0.18960	2.18;2.18;2.18;2.18;2.18;2.18	3.45	-1.62	0.08372	C-type lectin fold (1);C-type lectin-like (1);	.	.	.	.	T	0.31040	0.0784	L	0.49640	1.575	0.09310	N	1	B;P;P;D;B;P;B;B;P;P;B	0.67145	0.212;0.595;0.459;0.996;0.168;0.459;0.317;0.33;0.464;0.78;0.112	B;B;B;D;B;B;B;B;B;B;B	0.69479	0.021;0.163;0.054;0.964;0.077;0.036;0.112;0.033;0.047;0.045;0.018	T	0.15867	-1.0422	9	0.44086	T	0.13	.	5.3272	0.15913	0.5732:0.3125:0.0:0.1143	.	381;145;375;337;245;357;289;381;311;357;381	B2R907;Q9NNX6-4;Q9NNX6-2;Q9NNX6-7;Q9NNX6-8;Q9NNX6-6;G5E9C4;Q9NNX6;Q9NNX6-11;Q9NNX6-10;Q9NNX6-5	.;.;.;.;.;.;.;CD209_HUMAN;.;.;.	T	381;375;357;337;289;245;145	ENSP00000315477:A381T;ENSP00000346373:A375T;ENSP00000315407:A357T;ENSP00000204801:A337T;ENSP00000301357:A245T;ENSP00000377716:A145T	ENSP00000204801:A337T	A	-	1	0	CD209	7713999	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-2.840000	0.00738	-0.223000	0.09943	0.455000	0.32223	GCA		0.532	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		50	122	0	0	0	1	0	50	122				
XIRP2	129446	broad.mit.edu	37	2	168100081	168100081	+	Nonsense_Mutation	SNP	G	G	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr2:168100081G>T	ENST00000409195.1	+	9	2268	c.2179G>T	c.(2179-2181)Gga>Tga	p.G727*	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Nonsense_Mutation_p.G727*|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Nonsense_Mutation_p.G505*	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	552					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGAAATTAAGGGAAATGTTAA	0.353																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(2179-2181)Gga>Tga		xin actin-binding repeat containing 2							61.0	57.0	58.0					2																	168100081		1863	4100	5963	SO:0001587	stop_gained	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168100081G>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.2179G>T	2.37:g.168100081G>T	ENSP00000386840:p.Gly727*					XIRP2_ENST00000295237.9_Nonsense_Mutation_p.G727*|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Nonsense_Mutation_p.G505*|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron	p.G727*	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	2268	+			552					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Nonsense_Mutation	SNP	ENST00000409195.1	37	c.2179G>T	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	40	8.025847	0.98616	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	.	.	.	5.92	5.04	0.67666	.	0.115584	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-10.5229	15.0236	0.71650	0.0681:0.0:0.9319:0.0	.	.	.	.	X	727;727;505	.	ENSP00000295237:G727X	G	+	1	0	XIRP2	167808327	1.000000	0.71417	0.981000	0.43875	0.993000	0.82548	7.641000	0.83368	1.508000	0.48769	0.650000	0.86243	GGA		0.353	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		15	42	1	0	3.27435e-08	1	3.62105e-08	15	42				
ATP13A4	84239	broad.mit.edu	37	3	193220321	193220321	+	Silent	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr3:193220321C>T	ENST00000342695.4	-	3	664	c.342G>A	c.(340-342)gaG>gaA	p.E114E	ATP13A4_ENST00000295548.3_Silent_p.E114E|ATP13A4_ENST00000392443.3_Silent_p.E114E	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	114						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TTATGATATACTCCTCATCTG	0.393																																						ENST00000342695.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71						c.(340-342)gaG>gaA		ATPase type 13A4							147.0	129.0	135.0					3																	193220321		2203	4300	6503	SO:0001819	synonymous_variant	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193220321C>T	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.342G>A	3.37:g.193220321C>T						ATP13A4_ENST00000295548.3_Silent_p.E114E|ATP13A4_ENST00000392443.3_Silent_p.E114E	p.E114E	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	3	664	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		114					B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Silent	SNP	ENST00000342695.4	37	c.342G>A	CCDS3304.2																																																																																				0.393	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		33	93	0	0	0	1	0	33	93				
SCYL3	57147	broad.mit.edu	37	1	169824959	169824959	+	Silent	SNP	G	G	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr1:169824959G>A	ENST00000367770.1	-	11	1499	c.1452C>T	c.(1450-1452)taC>taT	p.Y484Y	SCYL3_ENST00000367771.6_Intron|SCYL3_ENST00000367772.4_Silent_p.Y484Y			Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	484					cell migration (GO:0016477)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GAGTATTGTAGTAATCTCGCT	0.383																																						ENST00000367772.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(1450-1452)taC>taT		SCY1-like 3 (S. cerevisiae)							78.0	78.0	78.0					1																	169824959		2203	4300	6503	SO:0001819	synonymous_variant	57147				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity	g.chr1:169824959G>A	BC014662	CCDS1286.1, CCDS1287.1	1q24.2	2008-02-05			ENSG00000000457	ENSG00000000457			19285	protein-coding gene	gene with protein product	"""ezrin-binding partner PACE-1"""	608192				12651155	Standard	NM_020423		Approved	PACE-1, PACE1	uc001ggs.3	Q8IZE3	OTTHUMG00000035941	ENST00000367770.1:c.1452C>T	1.37:g.169824959G>A						SCYL3_ENST00000367771.5_Intron|SCYL3_ENST00000367770.1_Silent_p.Y484Y	p.Y484Y	NM_181093.3	NP_851607.2	Q8IZE3	PACE1_HUMAN			12	1649	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		484					A8K8Z2|Q5THA6|Q5THA8|Q8IZN9|Q96C56|Q9UBK6	Silent	SNP	ENST00000367770.1	37	c.1452C>T	CCDS1287.1																																																																																				0.383	SCYL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087550.4	NM_181093		7	42	0	0	0	1	0	7	42				
DENND6B	414918	broad.mit.edu	37	22	50754160	50754160	+	Silent	SNP	G	G	A	rs371493754		TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr22:50754160G>A	ENST00000413817.3	-	9	812	c.741C>T	c.(739-741)caC>caT	p.H247H	XX-C283C717.1_ENST00000453835.1_RNA	NM_001001794.3	NP_001001794.3	Q8NEG7	DEN6B_HUMAN	DENN/MADD domain containing 6B	247					positive regulation of Rab GTPase activity (GO:0032851)	endosome (GO:0005768)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										GGTCCAGCTCGTGGACGCTAG	0.602																																						ENST00000413817.2																			0											c.(739-741)caC>caT		DENN/MADD domain containing 6B		G		2,4102		0,2,2050	31.0	37.0	35.0		741	-2.8	1.0	22		35	0,8366		0,0,4183	no	coding-synonymous	FAM116B	NM_001001794.3		0,2,6233	AA,AG,GG		0.0,0.0487,0.016		247/586	50754160	2,12468	2052	4183	6235	SO:0001819	synonymous_variant	414918							g.chr22:50754160G>A	AK054743	CCDS46732.1	22q13.33	2012-10-03	2012-10-03	2012-10-03	ENSG00000205593	ENSG00000205593		"""DENN/MADD domain containing"""	32690	protein-coding gene	gene with protein product			"""family with sequence similarity 116, member B"""	FAM116B		21330364	Standard	NM_001001794		Approved	MGC33692, AFI1B	uc011arv.1	Q8NEG7	OTTHUMG00000150210	ENST00000413817.3:c.741C>T	22.37:g.50754160G>A						XX-C283C717.1_ENST00000453835.1_RNA	p.H247H	NM_001001794.3	NP_001001794.3					9	812	-								A6X8I5	Silent	SNP	ENST00000413817.3	37	c.741C>T	CCDS46732.1	.	.	.	.	.	.	.	.	.	.	G	1.920	-0.448550	0.04572	4.87E-4	0.0	ENSG00000205593	ENST00000433760	.	.	.	4.63	-2.8	0.05823	.	.	.	.	.	T	0.54398	0.1856	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52245	-0.8601	4	.	.	.	-17.377	9.9857	0.41841	0.5067:0.0:0.4933:0.0	.	.	.	.	M	268	.	.	T	-	2	0	FAM116B	49096732	0.001000	0.12720	0.973000	0.42090	0.304000	0.27724	-1.507000	0.02268	-0.406000	0.07588	-0.658000	0.03865	ACG		0.602	DENND6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316845.3	NM_001001794		4	12	0	0	0	1	0	4	12				
SRRM1	10250	broad.mit.edu	37	1	24993386	24993386	+	Missense_Mutation	SNP	G	G	T	rs78787676		TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr1:24993386G>T	ENST00000323848.9	+	13	2024	c.1709G>T	c.(1708-1710)cGc>cTc	p.R570L	SRRM1_ENST00000374389.4_Missense_Mutation_p.R579L|SRRM1_ENST00000537199.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.R582L|snoU13_ENST00000459464.1_RNA|SRRM1_ENST00000479034.1_3'UTR	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	570	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.R570L(2)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CCTCGACGGCGCAGGACTCCC	0.557																																					Ovarian(68;897 1494 3282 17478)	ENST00000323848.9																			2	Substitution - Missense(2)	p.R570L(2)	urinary_tract(1)|central_nervous_system(1)	breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36						c.(1708-1710)cGc>cTc		serine/arginine repetitive matrix 1							54.0	45.0	48.0					1																	24993386		2203	4300	6503	SO:0001583	missense	10250				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding	g.chr1:24993386G>T	AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"""Ser/Arg-related nuclear matrix protein"", ""plenty of prolines 101-like"""	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.1709G>T	1.37:g.24993386G>T	ENSP00000326261:p.Arg570Leu					SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.R582L|SRRM1_ENST00000374389.4_Missense_Mutation_p.R579L|SRRM1_ENST00000537199.1_3'UTR	p.R570L	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)	13	2024	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	570			Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.		O60585|Q5VVN4	Missense_Mutation	SNP	ENST00000323848.9	37	c.1709G>T	CCDS255.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.693027	0.88735	.	.	ENSG00000133226	ENST00000323848;ENST00000447431;ENST00000374389	T;T;T	0.34667	1.35;1.35;1.35	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000007	T	0.58104	0.2099	L	0.54323	1.7	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.76575	0.988;0.972	T	0.57318	-0.7832	10	0.62326	D	0.03	-1.2563	19.3453	0.94361	0.0:0.0:1.0:0.0	.	582;570	E9PCT1;Q8IYB3	.;SRRM1_HUMAN	L	570;582;579	ENSP00000326261:R570L;ENSP00000391430:R582L;ENSP00000363510:R579L	ENSP00000326261:R570L	R	+	2	0	SRRM1	24865973	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.773000	0.85462	2.654000	0.90174	0.650000	0.86243	CGC		0.557	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009292.2	NM_005839		4	53	1	0	1.024e-07	1	1.11926e-07	4	53				
HCN1	348980	broad.mit.edu	37	5	45462091	45462091	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr5:45462091C>G	ENST00000303230.4	-	3	925	c.868G>C	c.(868-870)Gat>Cat	p.D290H		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	290					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.D290N(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTGGCGAGATCATATGTCATG	0.373																																						ENST00000303230.4																			1	Substitution - Missense(1)	p.D290N(1)	lung(1)	NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(868-870)Gat>Cat		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							63.0	62.0	62.0					5																	45462091		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45462091C>G	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.868G>C	5.37:g.45462091C>G	ENSP00000307342:p.Asp290His						p.D290H	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			3	925	-			290						Missense_Mutation	SNP	ENST00000303230.4	37	c.868G>C	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.580032	0.86645	.	.	ENSG00000164588	ENST00000303230	D	0.98455	-4.94	5.73	5.73	0.89815	Ion transport (1);	0.000000	0.64402	D	0.000003	D	0.97532	0.9192	L	0.50333	1.59	0.80722	D	1	P	0.42078	0.77	P	0.45167	0.472	D	0.98206	1.0470	10	0.87932	D	0	.	19.8983	0.96975	0.0:1.0:0.0:0.0	.	290	O60741	HCN1_HUMAN	H	290	ENSP00000307342:D290H	ENSP00000307342:D290H	D	-	1	0	HCN1	45497848	1.000000	0.71417	0.957000	0.39632	0.988000	0.76386	7.809000	0.86057	2.718000	0.92993	0.650000	0.86243	GAT		0.373	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		15	36	0	0	0	1	0	15	36				
HSP90AB2P	391634	broad.mit.edu	37	4	13339892	13339892	+	RNA	SNP	G	G	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr4:13339892G>A	ENST00000602906.1	+	0	1243							Q58FF8	H90B2_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 2, pseudogene						protein folding (GO:0006457)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			kidney(3)|lung(1)	4						ACCTACAGCTGGACAGCCAAT	0.488																																						ENST00000602906.1																			0				kidney(3)|lung(1)	4																																														391634							g.chr4:13339892G>A	AY956763		4p15.33	2012-04-18	2011-04-15		ENSG00000205940	ENSG00000205940			32537	pseudogene	pseudogene			"""heat shock protein 90kDa alpha (cytosolic), class B member 2 (pseudogene)"""			16269234	Standard	NG_032979		Approved	HSP90BB		Q58FF8			4.37:g.13339892G>A														0	1243	+									RNA	SNP	ENST00000602906.1	37																																																																																						0.488	HSP90AB2P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000359156.2			9	41	0	0	0	1	0	9	41				
STK10	6793	broad.mit.edu	37	5	171520497	171520497	+	Silent	SNP	G	G	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr5:171520497G>A	ENST00000176763.5	-	9	1816	c.1473C>T	c.(1471-1473)tgC>tgT	p.C491C	STK10_ENST00000517775.1_5'UTR	NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	491					cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCTCAGAGGTGCAGAGGCTGC	0.597																																						ENST00000176763.5																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47						c.(1471-1473)tgC>tgT		serine/threonine kinase 10							103.0	105.0	104.0					5																	171520497		2203	4300	6503	SO:0001819	synonymous_variant	6793						ATP binding|protein serine/threonine kinase activity	g.chr5:171520497G>A	AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.1473C>T	5.37:g.171520497G>A						STK10_ENST00000517775.1_5'UTR	p.C491C	NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		9	1816	-	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	491					A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Silent	SNP	ENST00000176763.5	37	c.1473C>T	CCDS34290.1																																																																																				0.597	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990		48	80	0	0	0	1	0	48	80				
OLIG3	167826	broad.mit.edu	37	6	137815225	137815225	+	Missense_Mutation	SNP	C	C	T	rs541674248	byFrequency	TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr6:137815225C>T	ENST00000367734.2	-	1	306	c.83G>A	c.(82-84)cGc>cAc	p.R28H		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	28	Poly-His.				spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron migration (GO:0097476)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II transcription corepressor activity (GO:0001106)			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		gtggtggtggcggtggtggtg	0.587																																						ENST00000367734.2																			0				endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(82-84)cGc>cAc		oligodendrocyte transcription factor 3							51.0	55.0	54.0					6																	137815225		2203	4300	6503	SO:0001583	missense	167826				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr6:137815225C>T	AK096362	CCDS5186.1	6q23.3	2013-05-21			ENSG00000177468	ENSG00000177468		"""Basic helix-loop-helix proteins"""	18003	protein-coding gene	gene with protein product		609323					Standard	NM_175747		Approved	Bhlhb7, bHLHe20	uc003qhp.1	Q7RTU3	OTTHUMG00000015657	ENST00000367734.2:c.83G>A	6.37:g.137815225C>T	ENSP00000356708:p.Arg28His						p.R28H	NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN		GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)	1	306	-	Breast(32;0.165)|Colorectal(23;0.24)		28			Poly-His.		Q8N8Q0	Missense_Mutation	SNP	ENST00000367734.2	37	c.83G>A	CCDS5186.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.238164	0.22711	.	.	ENSG00000177468	ENST00000367734	D	0.99382	-5.8	5.55	2.39	0.29439	.	0.473635	0.19664	N	0.108901	D	0.91882	0.7430	N	0.08118	0	0.27916	N	0.93843	B	0.02656	0.0	B	0.01281	0.0	D	0.89260	0.3597	10	0.38643	T	0.18	-14.5881	6.7577	0.23523	0.0:0.569:0.0:0.431	.	28	Q7RTU3	OLIG3_HUMAN	H	28	ENSP00000356708:R28H	ENSP00000356708:R28H	R	-	2	0	OLIG3	137856918	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.500000	0.35682	0.695000	0.31675	0.591000	0.81541	CGC		0.587	OLIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042405.1	NM_175747		4	84	0	0	0	1	0	4	84				
PNLIPRP1	5407	broad.mit.edu	37	10	118354364	118354364	+	Silent	SNP	C	C	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr10:118354364C>A	ENST00000528052.1	+	5	524	c.453C>A	c.(451-453)ctC>ctA	p.L151L	PNLIPRP1_ENST00000534537.1_Silent_p.L151L|PNLIPRP1_ENST00000358834.4_Silent_p.L151L			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	151					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|triglyceride lipase activity (GO:0004806)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		CCCAGATGCTCGACATCCTCT	0.572																																						ENST00000528052.1																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38						c.(451-453)ctC>ctA		pancreatic lipase-related protein 1							75.0	62.0	67.0					10																	118354364		2203	4300	6503	SO:0001819	synonymous_variant	5407				lipid metabolic process		calcium ion binding|triglyceride lipase activity	g.chr10:118354364C>A	BC025784	CCDS7595.1	10q26.12	2006-07-04			ENSG00000187021	ENSG00000187021			9156	protein-coding gene	gene with protein product		604422				1379598	Standard	NM_006229		Approved	PLRP1	uc001lco.1	P54315	OTTHUMG00000019109	ENST00000528052.1:c.453C>A	10.37:g.118354364C>A						PNLIPRP1_ENST00000534537.1_Silent_p.L151L|PNLIPRP1_ENST00000358834.4_Silent_p.L151L	p.L151L			P54315	LIPR1_HUMAN		all cancers(201;0.0161)	5	524	+			151					Q68D83|Q68DR6|Q8TAU2|Q9BS82	Silent	SNP	ENST00000528052.1	37	c.453C>A	CCDS7595.1																																																																																				0.572	PNLIPRP1-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384633.1	NM_006229		9	31	1	0	4.68919e-08	1	5.15537e-08	9	31				
ZNF675	171392	broad.mit.edu	37	19	23836269	23836269	+	Missense_Mutation	SNP	A	A	C			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr19:23836269A>C	ENST00000359788.4	-	4	1634	c.1466T>G	c.(1465-1467)tTt>tGt	p.F489C	ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000601935.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	489					bone resorption (GO:0045453)|cytokine-mediated signaling pathway (GO:0019221)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				GGAGTGTTTAAAAGCTTTGCC	0.378																																						ENST00000359788.4																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(1465-1467)tTt>tGt		zinc finger protein 675							43.0	46.0	45.0					19																	23836269		2203	4300	6503	SO:0001583	missense	171392				bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:23836269A>C		CCDS32981.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	30768	protein-coding gene	gene with protein product	"""TRAF6 inhibitory zinc finger"""					11751921	Standard	NM_138330		Approved	TIZ, TBZF	uc002nri.3	Q8TD23		ENST00000359788.4:c.1466T>G	19.37:g.23836269A>C	ENSP00000352836:p.Phe489Cys					ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000600313.1_Intron	p.F489C	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN			4	1634	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	489					Q8N211	Missense_Mutation	SNP	ENST00000359788.4	37	c.1466T>G	CCDS32981.1	.	.	.	.	.	.	.	.	.	.	.	3.625	-0.076827	0.07184	.	.	ENSG00000197372	ENST00000359788	T	0.45668	0.89	0.876	0.876	0.19138	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.58061	0.2096	M	0.78049	2.395	0.37805	D	0.927842	D	0.76494	0.999	D	0.70935	0.971	T	0.60505	-0.7250	9	0.72032	D	0.01	.	6.7189	0.23318	1.0:0.0:0.0:0.0	.	489	Q8TD23	ZN675_HUMAN	C	489	ENSP00000352836:F489C	ENSP00000352836:F489C	F	-	2	0	ZNF675	23628109	0.999000	0.42202	0.177000	0.23020	0.176000	0.22953	5.987000	0.70571	0.251000	0.21505	0.248000	0.18094	TTT		0.378	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466433.1	NM_138330		13	33	0	0	0	1	0	13	33				
ZNF142	7701	broad.mit.edu	37	2	219515169	219515169	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr2:219515169C>T	ENST00000449707.1	-	5	782	c.361G>A	c.(361-363)Gag>Aag	p.E121K	ZNF142_ENST00000411696.2_Missense_Mutation_p.E121K	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	121					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TCTACATTCTCCTCTTCAGCT	0.512																																					Colon(170;867 1942 8995 15834 18053)	ENST00000411696.2																			0				breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(361-363)Gag>Aag		zinc finger protein 142							241.0	240.0	240.0					2																	219515169		1955	4157	6112	SO:0001583	missense	7701				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:219515169C>T	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"""Zinc fingers, C2H2-type"""	12927	protein-coding gene	gene with protein product		604083	"""zinc finger protein 142 (clone pHZ-49)"""				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.361G>A	2.37:g.219515169C>T	ENSP00000408643:p.Glu121Lys					ZNF142_ENST00000449707.1_Missense_Mutation_p.E121K	p.E121K			P52746	ZN142_HUMAN		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	4	1140	-		Renal(207;0.0474)	121					Q92510	Missense_Mutation	SNP	ENST00000449707.1	37	c.361G>A	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.380235	0.42207	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.11930	2.73;2.73	4.97	4.97	0.65823	.	0.416680	0.26442	N	0.024359	T	0.09642	0.0237	N	0.22421	0.69	0.34277	D	0.681677	B	0.17465	0.022	B	0.14578	0.011	T	0.16988	-1.0384	10	0.15952	T	0.53	1.0521	13.5977	0.62000	0.0:1.0:0.0:0.0	.	121	P52746	ZN142_HUMAN	K	121	ENSP00000408643:E121K;ENSP00000398798:E121K	ENSP00000398798:E121K	E	-	1	0	ZNF142	219223413	0.993000	0.37304	0.985000	0.45067	0.180000	0.23129	2.963000	0.49184	2.590000	0.87494	0.655000	0.94253	GAG		0.512	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		61	180	0	0	0	1	0	61	180				
SLFN5	162394	broad.mit.edu	37	17	33586247	33586247	+	Missense_Mutation	SNP	C	C	T	rs139273106		TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr17:33586247C>T	ENST00000299977.4	+	2	686	c.538C>T	c.(538-540)Cgg>Tgg	p.R180W	SLFN5_ENST00000592325.1_Missense_Mutation_p.R180W|SLFN5_ENST00000542451.1_Missense_Mutation_p.R180W	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	180					cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)	p.R180W(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		TGATAGAAAGCGGCTTCAGTA	0.403																																						ENST00000299977.4																			1	Substitution - Missense(1)	p.R180W(1)	large_intestine(1)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34						c.(538-540)Cgg>Tgg		schlafen family member 5		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	133.0	129.0	130.0		538	1.4	0.1	17	dbSNP_134	130	3,8597	3.0+/-9.4	0,3,4297	yes	missense	SLFN5	NM_144975.3	101	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	probably-damaging	180/892	33586247	4,13002	2203	4300	6503	SO:0001583	missense	162394				cell differentiation		ATP binding	g.chr17:33586247C>T	BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000299977.4:c.538C>T	17.37:g.33586247C>T	ENSP00000299977:p.Arg180Trp					SLFN5_ENST00000542451.1_Missense_Mutation_p.R180W|SLFN5_ENST00000592325.1_Missense_Mutation_p.R180W	p.R180W	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)	2	686	+		Ovarian(249;0.17)	180					Q08AF2|Q8WU54|Q96A82	Missense_Mutation	SNP	ENST00000299977.4	37	c.538C>T	CCDS32619.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.134006	0.37630	2.27E-4	3.49E-4	ENSG00000166750	ENST00000299977;ENST00000542451	T;T	0.06933	4.51;3.24	3.45	1.35	0.21983	.	0.591152	0.12919	N	0.428314	T	0.04861	0.0131	N	0.19112	0.55	0.09310	N	1	B;B;B	0.18461	0.003;0.003;0.028	B;B;B	0.17722	0.001;0.001;0.019	T	0.37314	-0.9711	10	0.42905	T	0.14	.	3.4539	0.07509	0.2547:0.6084:0.0:0.1369	.	180;180;180	B4E128;Q08AF3;Q08AF3-2	.;SLFN5_HUMAN;.	W	180	ENSP00000299977:R180W;ENSP00000440537:R180W	ENSP00000299977:R180W	R	+	1	2	SLFN5	30610360	0.000000	0.05858	0.102000	0.21198	0.339000	0.28857	-3.710000	0.00387	0.733000	0.32492	0.563000	0.77884	CGG		0.403	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448649.2	NM_144975		48	95	0	0	0	1	0	48	95				
ZNF599	148103	broad.mit.edu	37	19	35251387	35251387	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr19:35251387G>A	ENST00000329285.8	-	4	692	c.319C>T	c.(319-321)Ctt>Ttt	p.L107F		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	107					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TGTGCCAGAAGTTCCTGGAAA	0.438																																						ENST00000329285.7																			0				endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24						c.(319-321)Ctt>Ttt		zinc finger protein 599							63.0	68.0	66.0					19																	35251387		2203	4300	6503	SO:0001583	missense	148103				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35251387G>A	AK055225	CCDS32991.1	19q13.13	2013-01-08				ENSG00000153896		"""Zinc fingers, C2H2-type"", ""-"""	26408	protein-coding gene	gene with protein product							Standard	NM_001007248		Approved	FLJ30663	uc010edn.1	Q96NL3		ENST00000329285.8:c.319C>T	19.37:g.35251387G>A	ENSP00000333802:p.Leu107Phe						p.L107F	NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		4	692	-	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		107					Q569K0|Q5PRG1	Missense_Mutation	SNP	ENST00000329285.8	37	c.319C>T	CCDS32991.1	.	.	.	.	.	.	.	.	.	.	G	0.211	-1.036838	0.02013	.	.	ENSG00000153896	ENST00000392231;ENST00000329285	T	0.22539	1.95	2.57	-1.05	0.10036	.	.	.	.	.	T	0.09818	0.0241	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.12156	0.007	T	0.29274	-1.0017	9	0.52906	T	0.07	.	6.6002	0.22697	0.2157:0.1513:0.633:0.0	.	107	Q96NL3	ZN599_HUMAN	F	106;107	ENSP00000333802:L107F	ENSP00000333802:L107F	L	-	1	0	ZNF599	39943227	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.009000	0.03660	-0.433000	0.07286	-1.579000	0.00862	CTT		0.438	ZNF599-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460648.2	XM_086046		21	99	0	0	0	1	0	21	99				
TCP11	6954	broad.mit.edu	37	6	35088707	35088707	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr6:35088707C>T	ENST00000512012.1	-	5	850	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K	TCP11_ENST00000311875.5_Missense_Mutation_p.E245K|TCP11_ENST00000373974.4_Missense_Mutation_p.E199K|TCP11_ENST00000244645.3_Missense_Mutation_p.E170K|TCP11_ENST00000444780.2_Missense_Mutation_p.E240K|TCP11_ENST00000373979.2_Missense_Mutation_p.E170K|TCP11_ENST00000412155.2_Missense_Mutation_p.E194K|TCP11_ENST00000418521.2_Missense_Mutation_p.E169K			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	232					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						TTGAGGAGTTCCTGGAATTTA	0.443																																						ENST00000311875.5																			0				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						c.(733-735)Gaa>Aaa		t-complex 11, testis-specific							303.0	314.0	310.0					6																	35088707		2203	4300	6503	SO:0001583	missense	6954				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr6:35088707C>T		CCDS4799.1, CCDS47413.1, CCDS59015.1, CCDS59016.1, CCDS59017.1, CCDS59018.1	6p21.31	2012-09-20	2012-09-20		ENSG00000124678	ENSG00000124678			11658	protein-coding gene	gene with protein product	"""fertilization-promoting peptide receptor"""	186982	"""t-complex 11 (a murine tcp homolog)"", ""t-complex 11 homolog (mouse)"""	D6S230E		1427894, 11756566, 21597245	Standard	NM_001093728		Approved	KIAA0229, FPPR	uc003okd.2	Q8WWU5	OTTHUMG00000014560	ENST00000512012.1:c.694G>A	6.37:g.35088707C>T	ENSP00000425995:p.Glu232Lys					TCP11_ENST00000512012.1_Missense_Mutation_p.E232K|TCP11_ENST00000244645.3_Missense_Mutation_p.E170K|TCP11_ENST00000412155.2_Missense_Mutation_p.E194K|TCP11_ENST00000373974.4_Missense_Mutation_p.E199K|TCP11_ENST00000444780.2_Missense_Mutation_p.E240K|TCP11_ENST00000373979.2_Missense_Mutation_p.E170K|TCP11_ENST00000418521.2_Missense_Mutation_p.E169K	p.E245K			Q8WWU5	TCP11_HUMAN			6	1150	-			232					B2RCE9|B3KQ27|B7Z7B5|B7Z7G1|B7Z7H4|B7Z7S8|E7EP29|J3KNG1|Q8NF85|Q9NQZ9|Q9NR39	Missense_Mutation	SNP	ENST00000512012.1	37	c.733G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.82|14.82	2.649936|2.649936	0.47362|0.47362	.|.	.|.	ENSG00000124678|ENSG00000124678	ENST00000373979;ENST00000412155;ENST00000244645;ENST00000373977;ENST00000311875;ENST00000444780;ENST00000373974;ENST00000418521;ENST00000512012;ENST00000486638|ENST00000502480	T;T;T;T;T;T;T;T;T|.	0.11821|.	2.74;2.74;2.74;2.74;2.74;2.74;2.74;2.74;2.74|.	4.32|4.32	4.32|4.32	0.51571|0.51571	.|.	0.196329|.	0.43919|.	D|.	0.000515|.	T|T	0.49609|0.49609	0.1567|0.1567	L|L	0.52011|0.52011	1.625|1.625	0.36719|0.36719	D|D	0.881099|0.881099	P;B;P;P;P;P|.	0.40834|.	0.541;0.388;0.541;0.73;0.593;0.55|.	B;B;B;P;P;B|.	0.47346|.	0.331;0.331;0.331;0.544;0.447;0.248|.	T|T	0.49670|0.49670	-0.8915|-0.8915	10|5	0.18710|.	T|.	0.47|.	-23.1138|-23.1138	11.928|11.928	0.52831|0.52831	0.0:0.9121:0.0:0.0879|0.0:0.9121:0.0:0.0879	.|.	199;194;240;305;232;170|.	B7Z7G1;E7EP29;B7Z7B5;Q5TB88;Q8WWU5;Q8WWU5-2|.	.;.;.;.;TCP11_HUMAN;.|.	K|E	170;194;170;194;245;240;199;169;232;91|39	ENSP00000363091:E170K;ENSP00000402816:E194K;ENSP00000244645:E170K;ENSP00000308708:E245K;ENSP00000404479:E240K;ENSP00000363085:E199K;ENSP00000415320:E169K;ENSP00000425995:E232K;ENSP00000421103:E91K|.	ENSP00000244645:E170K|.	E|G	-|-	1|2	0|0	TCP11|TCP11	35196685|35196685	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.605000|0.605000	0.37080|0.37080	2.265000|2.265000	0.43311|0.43311	2.401000|2.401000	0.81631|0.81631	0.563000|0.563000	0.77884|0.77884	GAA|GGA		0.443	TCP11-014	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000370354.1	NM_001093728		51	286	0	0	0	1	0	51	286				
SMC4	10051	broad.mit.edu	37	3	160150976	160150976	+	Silent	SNP	C	C	G			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr3:160150976C>G	ENST00000357388.3	+	23	4144	c.3693C>G	c.(3691-3693)tcC>tcG	p.S1231S	SMC4_ENST00000344722.5_Silent_p.S1231S|SMC4_ENST00000469762.1_Silent_p.S1206S|SMC4_ENST00000360111.2_Silent_p.S1173S|SMC4_ENST00000462787.1_Silent_p.S1173S|RP11-432B6.3_ENST00000483754.1_Intron|TRIM59_ENST00000543469.1_3'UTR	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	1231					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AAAATGTGTCCATTGTTGCAT	0.338																																						ENST00000357388.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(3691-3693)tcC>tcG		structural maintenance of chromosomes 4							120.0	119.0	119.0					3																	160150976		2203	4300	6503	SO:0001819	synonymous_variant	10051				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity	g.chr3:160150976C>G	AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.3693C>G	3.37:g.160150976C>G						SMC4_ENST00000469762.1_Silent_p.S1206S|SMC4_ENST00000360111.2_Silent_p.S1173S|TRIM59_ENST00000543469.1_3'UTR|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000344722.5_Silent_p.S1231S|SMC4_ENST00000462787.1_Silent_p.S1173S	p.S1231S	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		23	4144	+			1231					A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Silent	SNP	ENST00000357388.3	37	c.3693C>G	CCDS3189.1																																																																																				0.338	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1			4	115	0	0	0	1	0	4	115				
PLCG1	5335	broad.mit.edu	37	20	39791907	39791907	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr20:39791907T>C	ENST00000373271.1	+	8	1186	c.781T>C	c.(781-783)Tac>Cac	p.Y261H	PLCG1_ENST00000373272.2_Missense_Mutation_p.Y261H|PLCG1_ENST00000244007.3_Missense_Mutation_p.Y261H	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	261					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|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)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				CCTTCTTGACTACCAGGGGGT	0.612																																						ENST00000373272.2																			0				breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46						c.(781-783)Tac>Cac		phospholipase C, gamma 1							86.0	82.0	83.0					20																	39791907		2203	4300	6503	SO:0001583	missense	5335				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity	g.chr20:39791907T>C	M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"", ""SH2 domain containing"""	9065	protein-coding gene	gene with protein product		172420	"""phospholipase C, gamma 1 (formerly subtype 148)"""	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.781T>C	20.37:g.39791907T>C	ENSP00000362368:p.Tyr261His					PLCG1_ENST00000244007.3_Missense_Mutation_p.Y261H|PLCG1_ENST00000373271.1_Missense_Mutation_p.Y261H	p.Y261H	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN			8	1186	+		Myeloproliferative disorder(115;0.00878)	261					B7ZLY7|B9EGH4|E1P5W4|Q2V575	Missense_Mutation	SNP	ENST00000373271.1	37	c.781T>C	CCDS13314.1	.	.	.	.	.	.	.	.	.	.	T	14.34	2.504893	0.44558	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	T;T;T	0.16457	2.34;2.34;2.34	5.59	4.5	0.54988	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);	0.419334	0.29113	N	0.013103	T	0.11324	0.0276	N	0.16478	0.41	0.37017	D	0.896025	B;B	0.18741	0.03;0.03	B;B	0.25759	0.063;0.063	T	0.08827	-1.0703	10	0.72032	D	0.01	.	8.5902	0.33682	0.0:0.0869:0.0:0.9131	.	261;261	P19174;A2A284	PLCG1_HUMAN;.	H	261	ENSP00000244007:Y261H;ENSP00000362368:Y261H;ENSP00000362369:Y261H	ENSP00000244007:Y261H	Y	+	1	0	PLCG1	39225321	0.031000	0.19500	1.000000	0.80357	0.989000	0.77384	0.059000	0.14322	2.136000	0.66102	0.459000	0.35465	TAC		0.612	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811		34	104	0	0	0	1	0	34	104				
MUC5B	727897	broad.mit.edu	37	11	1266085	1266085	+	Missense_Mutation	SNP	C	C	G	rs556090358	byFrequency	TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr11:1266085C>G	ENST00000529681.1	+	31	8033	c.7975C>G	c.(7975-7977)Ccc>Gcc	p.P2659A	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.P2662A	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2659	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.|P -> A (in Ref. 4; CAA96577). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.P2638A(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACCCACACCCCCACAGTGCT	0.617													C|||	60	0.0119808	0.0174	0.0072	5008	,	,		19640	0.0		0.0209	False		,,,				2504	0.0112					ENST00000447027.1																			1	Substitution - Missense(1)	p.P2638A(1)	skin(1)	cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(7984-7986)Ccc>Gcc		mucin 5B, oligomeric mucus/gel-forming							98.0	124.0	116.0					11																	1266085		2044	4160	6204	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1266085C>G	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.7975C>G	11.37:g.1266085C>G	ENSP00000436812:p.Pro2659Ala					RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.P2659A	p.P2662A			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	8042	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2659	Missing (in Ref. 6; AAB61398).		11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.7984C>G	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	0.028	-1.355741	0.01245	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.21361	2.01;2.2	2.53	-5.06	0.02946	.	.	.	.	.	T	0.12987	0.0315	L	0.41710	1.295	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.20739	-1.0266	9	0.87932	D	0	.	1.5835	0.02639	0.3418:0.1308:0.3464:0.181	.	3297;2662	A7Y9J9;E9PBJ0	.;.	A	2659;2662;2631;2674	ENSP00000436812:P2659A;ENSP00000415793:P2662A	ENSP00000343037:P2631A	P	+	1	0	MUC5B	1222661	0.591000	0.26824	0.000000	0.03702	0.025000	0.11179	0.025000	0.13577	-4.187000	0.00066	-0.982000	0.02568	CCC		0.617	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		5	50	0	0	0	1	0	5	50				
PLCB4	5332	broad.mit.edu	37	20	9457384	9457384	+	Intron	SNP	A	A	T	rs553705037		TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr20:9457384A>T	ENST00000378493.1	+	35	3474				PLCB4_ENST00000414679.2_Intron|PLCB4_ENST00000378501.2_Silent_p.A1160A|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Intron|PLCB4_ENST00000278655.4_Intron|PLCB4_ENST00000334005.3_Silent_p.A1160A			Q15147	PLCB4_HUMAN	phospholipase C, beta 4						inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CCTGTCATGCAGTGTCCCAAA	0.373																																						ENST00000378501.2																			0				NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						c.(3478-3480)gcA>gcT		phospholipase C, beta 4							126.0	112.0	117.0					20																	9457384		2203	4300	6503	SO:0001627	intron_variant	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9457384A>T		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.3460-2184A>T	20.37:g.9457384A>T						PLCB4_ENST00000414679.2_Intron|PLCB4_ENST00000378473.3_Intron|PLCB4_ENST00000378493.1_Intron|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Silent_p.A1160A|PLCB4_ENST00000278655.4_Intron	p.A1160A	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN			35	3495	+			493					B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Silent	SNP	ENST00000378493.1	37	c.3480A>T	CCDS13105.1																																																																																				0.373	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			5	29	0	0	0	1	0	5	29				
MT-CO2	4513	broad.mit.edu	37	M	7919	7919	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chrM:7919G>A	ENST00000361739.1	+	1	334	c.334G>A	c.(334-336)Gac>Aac	p.D112N	MT-TW_ENST00000387382.1_RNA|MT-TR_ENST00000387439.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-CO3_ENST00000362079.2_5'Flank|MT-TY_ENST00000387409.1_RNA|MT-TC_ENST00000387405.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-ATP6_ENST00000361899.2_5'Flank|MT-ND4_ENST00000361381.2_5'Flank|MT-TG_ENST00000387429.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-ND3_ENST00000361227.2_5'Flank|MT-TK_ENST00000387421.1_RNA|MT-ND4L_ENST00000361335.1_5'Flank|MT-TD_ENST00000387419.1_RNA			P00403	COX2_HUMAN	mitochondrially encoded cytochrome c oxidase II	112					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|respiratory chain complex IV (GO:0045277)	copper ion binding (GO:0005507)|cytochrome-c oxidase activity (GO:0004129)			endometrium(5)|kidney(8)|lung(2)|pancreas(3)|prostate(1)	19						ACGAGTACACCGACTACGGCG	0.493																																						ENST00000361739.1																			0				endometrium(5)|kidney(8)|lung(2)|pancreas(3)|prostate(1)	19						c.(334-336)Gac>Aac		mitochondrially encoded cytochrome c oxidase II																																				SO:0001583	missense	4513							g.chrM:7919G>A			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198712	ENSG00000198712		"""Mitochondrial respiratory chain complex / Complex IV"""	7421	protein-coding gene	gene with protein product		516040	"""cytochrome c oxidase II"""	MTCO2		1712754, 1989603	Standard			Approved	COX2, CO2		P00403		ENST00000361739.1:c.334G>A	M.37:g.7919G>A	ENSP00000354876:p.Asp112Asn						p.D112N							1	334	+								Q37526	Missense_Mutation	SNP	ENST00000361739.1	37	c.334G>A																																																																																					0.493	MT-CO2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024029		16	3	0	0	0	1	0	16	3				
CHML	1122	broad.mit.edu	37	1	241797858	241797858	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr1:241797858T>A	ENST00000366553.1	-	1	1374	c.1211A>T	c.(1210-1212)cAt>cTt	p.H404L	OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron|OPN3_ENST00000331838.5_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	404					intracellular protein transport (GO:0006886)|protein geranylgeranylation (GO:0018344)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TTGTACTTTATGACGAAGACA	0.378																																						ENST00000366553.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26						c.(1210-1212)cAt>cTt		choroideremia-like (Rab escort protein 2)							68.0	74.0	72.0					1																	241797858		2201	4298	6499	SO:0001583	missense	1122				intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	g.chr1:241797858T>A	X64728	CCDS31073.1	1q43	2013-09-19			ENSG00000203668	ENSG00000203668			1941	protein-coding gene	gene with protein product		118825				7981670	Standard	NM_001821		Approved	REP-2	uc001hzd.3	P26374	OTTHUMG00000039690	ENST00000366553.1:c.1211A>T	1.37:g.241797858T>A	ENSP00000355511:p.His404Leu					OPN3_ENST00000366554.2_Intron|OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron	p.H404L	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0125)		1	1374	-	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	404					B2RAB9|Q17RE0|Q9H1Y4	Missense_Mutation	SNP	ENST00000366553.1	37	c.1211A>T	CCDS31073.1	.	.	.	.	.	.	.	.	.	.	T	16.45	3.125541	0.56721	.	.	ENSG00000203668	ENST00000366553	T	0.59364	0.27	4.4	3.28	0.37604	.	0.050764	0.85682	U	0.000000	T	0.69214	0.3086	.	.	.	0.51482	D	0.999923	D	0.89917	1.0	D	0.87578	0.998	T	0.67225	-0.5724	9	0.42905	T	0.14	-14.5621	6.5408	0.22378	0.0:0.1059:0.0:0.8941	.	404	P26374	RAE2_HUMAN	L	404	ENSP00000355511:H404L	ENSP00000355511:H404L	H	-	2	0	CHML	239864481	0.997000	0.39634	0.995000	0.50966	0.992000	0.81027	1.738000	0.38207	1.034000	0.39945	0.533000	0.62120	CAT		0.378	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095712.1	NM_001821		26	56	0	0	0	1	0	26	56				
SPDEF	25803	broad.mit.edu	37	6	34511953	34511953	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr6:34511953G>A	ENST00000374037.3	-	2	694	c.280C>T	c.(280-282)Ccg>Tcg	p.P94S	SPDEF_ENST00000544425.1_Missense_Mutation_p.P94S	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN	SAM pointed domain containing ETS transcription factor	94					cell differentiation (GO:0030154)|intestinal epithelial cell development (GO:0060576)|lung goblet cell differentiation (GO:0060480)|multicellular organismal development (GO:0007275)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell fate commitment (GO:0010455)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						TCAATGACCGGGCACTGCTCA	0.662																																						ENST00000374037.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						c.(280-282)Ccg>Tcg		SAM pointed domain containing ETS transcription factor							34.0	36.0	35.0					6																	34511953		2203	4299	6502	SO:0001583	missense	25803				negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:34511953G>A	AF071538	CCDS4794.1, CCDS59013.1	6p21.3	2013-08-07	2013-08-07		ENSG00000124664	ENSG00000124664			17257	protein-coding gene	gene with protein product		608144	"""SAM pointed domain containing ets transcription factor"""			10625666, 6857767	Standard	NM_012391		Approved	PDEF, bA375E1.3	uc003ojq.2	O95238	OTTHUMG00000014548	ENST00000374037.3:c.280C>T	6.37:g.34511953G>A	ENSP00000363149:p.Pro94Ser					SPDEF_ENST00000544425.1_Missense_Mutation_p.P94S	p.P94S	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN			2	694	-			94					B4DWH8|F5H778	Missense_Mutation	SNP	ENST00000374037.3	37	c.280C>T	CCDS4794.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.428284	0.62844	.	.	ENSG00000124664	ENST00000374037;ENST00000544425	T;T	0.16597	2.33;2.36	5.12	5.12	0.69794	.	0.745176	0.12676	N	0.448421	T	0.10035	0.0246	L	0.34521	1.04	0.58432	D	0.999999	P;P	0.51537	0.946;0.911	P;B	0.46253	0.509;0.311	T	0.28073	-1.0055	10	0.13108	T	0.6	.	18.6176	0.91308	0.0:0.0:1.0:0.0	.	94;94	F5H778;O95238	.;SPDEF_HUMAN	S	94	ENSP00000363149:P94S;ENSP00000442715:P94S	ENSP00000363149:P94S	P	-	1	0	SPDEF	34619931	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	7.283000	0.78640	2.385000	0.81259	0.585000	0.79938	CCG		0.662	SPDEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040246.1	NM_012391		14	55	0	0	0	1	0	14	55				
GNAS	2778	broad.mit.edu	37	20	57415489	57415489	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr20:57415489G>C	ENST00000313949.7	+	1	717	c.328G>C	c.(328-330)Gag>Cag	p.E110Q	GNAS_ENST00000371098.2_Missense_Mutation_p.E110Q|GNAS-AS1_ENST00000424094.2_RNA|GNAS_ENST00000371075.3_Missense_Mutation_p.E110Q|GNAS-AS1_ENST00000598163.1_RNA|GNAS-AS1_ENST00000443966.1_RNA			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.E110K(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GTTCGACTACGAGACCGAGAG	0.622			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	ENST00000313949.7				Dom	yes		20	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""	E			pituitary adenoma		1	Substitution - Missense(1)	p.E110K(1)	upper_aerodigestive_tract(1)	adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441						c.(328-330)Gag>Cag		GNAS complex locus							91.0	89.0	90.0					20																	57415489		2203	4300	6503	SO:0001583	missense	2778				activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57415489G>C	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000313949.7:c.328G>C	20.37:g.57415489G>C	ENSP00000323571:p.Glu110Gln	TSP Lung(22;0.16)				GNAS-AS1_ENST00000598163.1_RNA|GNAS-AS1_ENST00000424094.2_RNA|GNAS_ENST00000371098.2_Missense_Mutation_p.E110Q|GNAS-AS1_ENST00000443966.1_RNA|GNAS_ENST00000371075.3_Missense_Mutation_p.E110Q	p.E110Q			P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		1	717	+	all_lung(29;0.0104)		123					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000313949.7	37	c.328G>C	CCDS13471.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.692555	0.48202	.	.	ENSG00000087460	ENST00000313949;ENST00000371098;ENST00000371075;ENST00000453292	.	.	.	4.6	3.56	0.40772	.	.	.	.	.	T	0.48768	0.1518	N	0.24115	0.695	0.80722	D	1	D	0.57899	0.981	P	0.55577	0.779	T	0.45264	-0.9273	8	0.48119	T	0.1	.	9.4108	0.38491	0.0:0.0:0.7876:0.2124	.	110	O95467	GNAS3_HUMAN	Q	110;110;110;31	.	ENSP00000323571:E110Q	E	+	1	0	GNAS	56848884	0.996000	0.38824	0.998000	0.56505	0.826000	0.46750	1.946000	0.40283	2.291000	0.77112	0.585000	0.79938	GAG		0.622	GNAS-002	KNOWN	NMD_exception|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080418.7	NM_000516		10	130	0	0	0	1	0	10	130				
THNSL1	79896	broad.mit.edu	37	10	25313350	25313350	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr10:25313350A>G	ENST00000524413.1	+	3	1545	c.1198A>G	c.(1198-1200)Agg>Ggg	p.R400G	THNSL1_ENST00000376356.4_Missense_Mutation_p.R400G			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	400						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)	TGATAAGCAAAGGATAGCTGT	0.393																																						ENST00000524413.1																			0				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28						c.(1198-1200)Agg>Ggg		threonine synthase-like 1 (S. cerevisiae)	L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)						123.0	121.0	122.0					10																	25313350		2203	4300	6503	SO:0001583	missense	79896				threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity	g.chr10:25313350A>G	AK025655	CCDS7147.1	10p12.31	2008-02-05	2007-06-20		ENSG00000185875	ENSG00000185875			26160	protein-coding gene	gene with protein product		611260	"""threonine synthase-like 1 (bacterial)"""			12477932	Standard	NM_024838		Approved	FLJ22002	uc001isi.4	Q8IYQ7	OTTHUMG00000017828	ENST00000524413.1:c.1198A>G	10.37:g.25313350A>G	ENSP00000434887:p.Arg400Gly					THNSL1_ENST00000376356.4_Missense_Mutation_p.R400G	p.R400G			Q8IYQ7	THNS1_HUMAN			3	1545	+			400					B3KWL1|D3DRV3|Q5VV21	Missense_Mutation	SNP	ENST00000524413.1	37	c.1198A>G	CCDS7147.1	.	.	.	.	.	.	.	.	.	.	A	0.031	-1.335178	0.01287	.	.	ENSG00000185875	ENST00000524413;ENST00000376356	T;T	0.07021	3.23;3.23	5.61	5.61	0.85477	Threonine synthase (1);Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.054372	0.64402	D	0.000001	T	0.03477	0.0100	N	0.03903	-0.33	0.35542	D	0.803104	B	0.26935	0.164	B	0.23018	0.043	T	0.31696	-0.9934	10	0.06757	T	0.87	-27.6472	12.3454	0.55118	0.8592:0.1408:0.0:0.0	.	400	Q8IYQ7	THNS1_HUMAN	G	400	ENSP00000434887:R400G;ENSP00000365534:R400G	ENSP00000365534:R400G	R	+	1	2	THNSL1	25353356	1.000000	0.71417	0.907000	0.35723	0.985000	0.73830	3.296000	0.51802	2.136000	0.66102	0.528000	0.53228	AGG		0.393	THNSL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394913.1	NM_024838		38	64	0	0	0	1	0	38	64				
ZNF479	90827	broad.mit.edu	37	7	57188272	57188272	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr7:57188272G>C	ENST00000331162.4	-	5	1120	c.850C>G	c.(850-852)Ctt>Gtt	p.L284V		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	284					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TGGTTAGTAAGTGCTGAGGAG	0.463																																						ENST00000331162.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84						c.(850-852)Ctt>Gtt		zinc finger protein 479							33.0	34.0	34.0					7																	57188272		2068	4223	6291	SO:0001583	missense	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57188272G>C	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.850C>G	7.37:g.57188272G>C	ENSP00000333776:p.Leu284Val						p.L284V	NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		5	1120	-			284						Missense_Mutation	SNP	ENST00000331162.4	37	c.850C>G	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	g	10.96	1.498216	0.26861	.	.	ENSG00000185177	ENST00000331162	T	0.52983	0.64	1.01	1.01	0.19927	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.62011	0.2393	M	0.82630	2.6	0.09310	N	1	P	0.51057	0.941	P	0.62382	0.901	T	0.50734	-0.8793	9	0.72032	D	0.01	.	3.381	0.07255	0.3033:0.0:0.6967:0.0	.	284	Q96JC4	ZN479_HUMAN	V	284	ENSP00000333776:L284V	ENSP00000333776:L284V	L	-	1	0	ZNF479	57192214	0.956000	0.32656	0.003000	0.11579	0.003000	0.03518	1.947000	0.40293	0.453000	0.26858	0.456000	0.33151	CTT		0.463	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		18	137	0	0	0	1	0	18	137				
LMTK2	22853	broad.mit.edu	37	7	97821155	97821155	+	Nonsense_Mutation	SNP	G	G	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr7:97821155G>T	ENST00000297293.5	+	11	1671	c.1378G>T	c.(1378-1380)Gag>Tag	p.E460*		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	460					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TCGTGAAATGGAGGAAGTCCT	0.587																																						ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(1378-1380)Gag>Tag		lemur tyrosine kinase 2							70.0	61.0	64.0					7																	97821155		2203	4300	6503	SO:0001587	stop_gained	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97821155G>T	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.1378G>T	7.37:g.97821155G>T	ENSP00000297293:p.Glu460*						p.E460*	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			11	1671	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		460					A4D272|Q75MG7|Q9UPS3	Nonsense_Mutation	SNP	ENST00000297293.5	37	c.1378G>T	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	G	41	8.800339	0.98958	.	.	ENSG00000164715	ENST00000297293	.	.	.	5.63	4.75	0.60458	.	0.105548	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	14.0781	0.64903	0.0723:0.0:0.9277:0.0	.	.	.	.	X	460	.	ENSP00000297293:E460X	E	+	1	0	LMTK2	97659091	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.420000	0.97426	1.532000	0.49169	0.655000	0.94253	GAG		0.587	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		13	55	1	0	5.50884e-06	1	5.85119e-06	13	55				
CMYA5	202333	broad.mit.edu	37	5	79032587	79032587	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr5:79032587C>T	ENST00000446378.2	+	2	8030	c.7999C>T	c.(7999-8001)Cca>Tca	p.P2667S		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2667					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CAGAGATATGCCAGATCACAG	0.403																																						ENST00000446378.2																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(7999-8001)Cca>Tca		cardiomyopathy associated 5							49.0	50.0	49.0					5																	79032587		1852	4097	5949	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79032587C>T	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.7999C>T	5.37:g.79032587C>T	ENSP00000394770:p.Pro2667Ser						p.P2667S	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	8030	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	2667					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.7999C>T	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	C	8.759	0.923230	0.18056	.	.	ENSG00000164309	ENST00000446378	T	0.37235	1.21	3.62	1.63	0.23807	.	.	.	.	.	T	0.22166	0.0534	N	0.24115	0.695	0.09310	N	1	P	0.35383	0.498	B	0.30401	0.115	T	0.10177	-1.0641	9	0.44086	T	0.13	.	9.6682	0.39996	0.0:0.5669:0.4331:0.0	.	2667	Q8N3K9	CMYA5_HUMAN	S	2667	ENSP00000394770:P2667S	ENSP00000394770:P2667S	P	+	1	0	CMYA5	79068343	0.000000	0.05858	0.001000	0.08648	0.053000	0.15095	-1.287000	0.02785	0.661000	0.30985	0.393000	0.25936	CCA		0.403	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		3	33	0	0	0	1	0	3	33				
GPRC6A	222545	broad.mit.edu	37	6	117150019	117150019	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr6:117150019T>C	ENST00000310357.3	-	1	179	c.158A>G	c.(157-159)gAc>gGc	p.D53G	GPRC6A_ENST00000530250.1_Missense_Mutation_p.D53G|GPRC6A_ENST00000368549.3_Missense_Mutation_p.D53G	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	53					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TCTGGGAGAGTCTTCTGAGGA	0.428																																						ENST00000310357.3																			0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65						c.(157-159)gAc>gGc		G protein-coupled receptor, family C, group 6, member A							91.0	89.0	90.0					6																	117150019		2203	4300	6503	SO:0001583	missense	222545				response to amino acid stimulus		G-protein coupled receptor activity	g.chr6:117150019T>C	AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"""GPCR / Class C : Calcium-sensing receptors"""	18510	protein-coding gene	gene with protein product			"""G protein-coupled receptor, family C, group 6, member A"""				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.158A>G	6.37:g.117150019T>C	ENSP00000309493:p.Asp53Gly					GPRC6A_ENST00000368549.3_Missense_Mutation_p.D53G|GPRC6A_ENST00000530250.1_Missense_Mutation_p.D53G	p.D53G	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)	1	179	-		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	53					Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	ENST00000310357.3	37	c.158A>G	CCDS5112.1	.	.	.	.	.	.	.	.	.	.	T	12.76	2.034185	0.35893	.	.	ENSG00000173612	ENST00000310357;ENST00000368549;ENST00000530250	D;D;D	0.91011	-2.56;-2.77;-2.77	5.18	1.41	0.22369	.	0.636997	0.14523	N	0.314377	T	0.60483	0.2272	N	0.08118	0	0.18873	N	0.999986	B;B;B	0.15473	0.002;0.013;0.001	B;B;B	0.09377	0.003;0.004;0.002	T	0.54886	-0.8226	10	0.34782	T	0.22	.	5.6095	0.17398	0.0:0.1485:0.1436:0.7079	.	53;53;53	Q5T6X5-3;Q5T6X5-2;Q5T6X5	.;.;GPC6A_HUMAN	G	53	ENSP00000309493:D53G;ENSP00000357537:D53G;ENSP00000433465:D53G	ENSP00000309493:D53G	D	-	2	0	GPRC6A	117256712	0.531000	0.26338	0.035000	0.18076	0.983000	0.72400	0.682000	0.25335	0.098000	0.17522	0.533000	0.62120	GAC		0.428	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2			19	48	0	0	0	1	0	19	48				
ABCC5	10057	broad.mit.edu	37	3	183671041	183671041	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr3:183671041C>T	ENST00000334444.6	-	18	2740	c.2500G>A	c.(2500-2502)Gaa>Aaa	p.E834K	ABCC5_ENST00000265586.6_Missense_Mutation_p.E834K	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	834					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	CCTTTCTCTTCCAGCTGCACA	0.483																																						ENST00000334444.6																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(2500-2502)Gaa>Aaa		ATP-binding cassette, sub-family C (CFTR/MRP), member 5							55.0	55.0	55.0					3																	183671041		1909	4118	6027	SO:0001583	missense	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183671041C>T	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.2500G>A	3.37:g.183671041C>T	ENSP00000333926:p.Glu834Lys					ABCC5_ENST00000265586.6_Missense_Mutation_p.E834K	p.E834K	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		18	2740	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		834					B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	ENST00000334444.6	37	c.2500G>A	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	C	33	5.196810	0.94960	.	.	ENSG00000114770	ENST00000334444;ENST00000382495;ENST00000265586	T;T	0.55760	0.5;0.5	5.62	5.62	0.85841	ABC transporter, transmembrane domain, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.81931	0.4927	H	0.96604	3.85	0.80722	D	1	D;D	0.61080	0.97;0.989	P;D	0.63957	0.766;0.92	D	0.87841	0.2651	10	0.87932	D	0	-19.9314	19.69	0.95996	0.0:1.0:0.0:0.0	.	834;834	Q86UX3;O15440	.;MRP5_HUMAN	K	834;770;834	ENSP00000333926:E834K;ENSP00000265586:E834K	ENSP00000265586:E834K	E	-	1	0	ABCC5	185153735	1.000000	0.71417	0.994000	0.49952	0.795000	0.44927	7.380000	0.79704	2.648000	0.89879	0.650000	0.86243	GAA		0.483	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		11	67	0	0	0	1	0	11	67				
NBEAL1	65065	broad.mit.edu	37	2	204066426	204066426	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr2:204066426A>G	ENST00000449802.1	+	49	7645	c.7312A>G	c.(7312-7314)Atc>Gtc	p.I2438V		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2438										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CTCACACATCATCCGGCATAT	0.343																																						ENST00000449802.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(7312-7314)Atc>Gtc		neurobeachin-like 1							95.0	80.0	85.0					2																	204066426		1857	4100	5957	SO:0001583	missense	65065						binding	g.chr2:204066426A>G	AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.7312A>G	2.37:g.204066426A>G	ENSP00000399903:p.Ile2438Val						p.I2438V	NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN			49	7645	+			2438					A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	37	c.7312A>G	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	A	6.687	0.495434	0.12762	.	.	ENSG00000144426	ENST00000449802;ENST00000340268;ENST00000414576	T;T	0.60171	0.21;1.62	5.87	4.73	0.59995	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.103521	0.64402	D	0.000001	T	0.55273	0.1910	N	0.16201	0.385	0.38721	D	0.953451	D;D	0.64830	0.994;0.986	D;D	0.75020	0.985;0.98	T	0.53129	-0.8482	10	0.17832	T	0.49	.	11.1003	0.48170	0.9275:0.0:0.0725:0.0	.	2438;2427	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	V	2438;2369;453	ENSP00000399903:I2438V;ENSP00000388466:I453V	ENSP00000344985:I2369V	I	+	1	0	NBEAL1	203774671	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	5.829000	0.69316	2.242000	0.73789	0.533000	0.62120	ATC		0.343	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			20	56	0	0	0	1	0	20	56				
ZNF765	91661	broad.mit.edu	37	19	53911046	53911046	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr19:53911046C>G	ENST00000396408.3	+	4	355	c.238C>G	c.(238-240)Cat>Gat	p.H80D	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	80	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		ACATGAAAGTCATCACAATGG	0.383																																						ENST00000396408.3																			0				endometrium(1)|lung(3)	4						c.(238-240)Cat>Gat		zinc finger protein 765							73.0	75.0	74.0					19																	53911046		2196	4297	6493	SO:0001583	missense	91661				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53911046C>G	BC017357	CCDS46171.1	19q13.41	2013-01-08				ENSG00000196417		"""Zinc fingers, C2H2-type"", ""-"""	25092	protein-coding gene	gene with protein product						12477932	Standard	XR_430215		Approved		uc002qbm.3	Q7L2R6		ENST00000396408.3:c.238C>G	19.37:g.53911046C>G	ENSP00000379689:p.His80Asp					ZNF765_ENST00000594030.1_Intron	p.H80D	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN		GBM - Glioblastoma multiforme(134;0.00379)	4	355	+			80			KRAB.		A8MYG0|B4DF18|B7ZAI5|B9EIL1|Q9BV49	Missense_Mutation	SNP	ENST00000396408.3	37	c.238C>G	CCDS46171.1	.	.	.	.	.	.	.	.	.	.	C	8.971	0.972995	0.18736	.	.	ENSG00000196417	ENST00000396408;ENST00000505866	T;T	0.07800	3.16;4.08	1.21	-0.0909	0.13663	Krueppel-associated box (1);	.	.	.	.	T	0.04182	0.0116	N	0.14661	0.345	0.09310	N	1	B	0.21309	0.054	B	0.23716	0.048	T	0.46925	-0.9156	8	.	.	.	.	3.6171	0.08082	0.0:0.6978:0.0:0.3022	.	80	Q7L2R6	ZN765_HUMAN	D	80;27	ENSP00000379689:H80D;ENSP00000421579:H27D	.	H	+	1	0	ZNF765	58602858	0.000000	0.05858	0.002000	0.10522	0.026000	0.11368	0.291000	0.18994	-0.220000	0.09988	0.174000	0.16983	CAT		0.383	ZNF765-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371603.1	NM_138372		12	46	0	0	0	1	0	12	46				
GLOD4	51031	broad.mit.edu	37	17	681930	681930	+	Intron	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr17:681930C>T	ENST00000301328.5	-	3	169				GLOD4_ENST00000301329.6_Intron|GLOD4_ENST00000536578.1_Missense_Mutation_p.M15I			Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4							extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		AACAAGGTATCATACCCATTA	0.403																																						ENST00000536578.1																			0				endometrium(1)|large_intestine(1)|prostate(1)	3						c.(43-45)atG>atA		glyoxalase domain containing 4							95.0	88.0	90.0					17																	681930		2203	4300	6503	SO:0001627	intron_variant	51031					mitochondrion		g.chr17:681930C>T	AF177342	CCDS32520.1	17p13.3	2008-02-05	2007-03-14	2007-03-14		ENSG00000167699			14111	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 25"""	C17orf25		11642406, 12528892	Standard	NM_016080		Approved	CGI-150, HC71	uc002fru.3	Q9HC38		ENST00000301328.5:c.146-29G>A	17.37:g.681930C>T						GLOD4_ENST00000301328.5_Intron|GLOD4_ENST00000301329.6_Intron	p.M15I			Q9HC38	GLOD4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	3	337	-			0					D3DTG9|D3DTH1|Q96B89|Q9H3J8|Q9HC37|Q9NVN1	Missense_Mutation	SNP	ENST00000301328.5	37	c.45G>A		.	.	.	.	.	.	.	.	.	.	C	15.17	2.754055	0.49362	.	.	ENSG00000167699	ENST00000536578	T	0.39406	1.08	5.14	5.14	0.70334	.	.	.	.	.	T	0.33644	0.0870	.	.	.	0.22050	N	0.999397	B	0.33073	0.396	B	0.32211	0.142	T	0.16070	-1.0415	7	.	.	.	.	16.0729	0.80948	0.0:1.0:0.0:0.0	.	15	B7Z403	.	I	15	ENSP00000444315:M15I	.	M	-	3	0	GLOD4	628680	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	5.508000	0.67006	2.389000	0.81357	0.655000	0.94253	ATG		0.403	GLOD4-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000437190.1	NM_016080		9	24	0	0	0	1	0	9	24				
DYNC1H1	1778	broad.mit.edu	37	14	102472319	102472319	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr14:102472319G>A	ENST00000360184.4	+	27	5692	c.5528G>A	c.(5527-5529)cGa>cAa	p.R1843Q		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1843	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AGCCAGATGCGATTTTACTTT	0.408																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(5527-5529)cGa>cAa		dynein, cytoplasmic 1, heavy chain 1							155.0	147.0	150.0					14																	102472319		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102472319G>A	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.5528G>A	14.37:g.102472319G>A	ENSP00000348965:p.Arg1843Gln						p.R1843Q	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			27	5692	+			1843			Stem (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.5528G>A	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	36	5.930246	0.97116	.	.	ENSG00000197102	ENST00000360184	T	0.60171	0.21	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.84009	0.5378	H	0.96943	3.91	0.80722	D	1	D	0.69078	0.997	P	0.61722	0.893	D	0.88392	0.3009	10	0.87932	D	0	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	1843	Q14204	DYHC1_HUMAN	Q	1843	ENSP00000348965:R1843Q	ENSP00000348965:R1843Q	R	+	2	0	DYNC1H1	101542072	1.000000	0.71417	0.977000	0.42913	0.992000	0.81027	9.799000	0.99117	2.884000	0.98904	0.655000	0.94253	CGA		0.408	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		5	165	0	0	0	1	0	5	165				
DNM2	1785	broad.mit.edu	37	19	10935874	10935874	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr19:10935874A>G	ENST00000355667.6	+	18	2115	c.2035A>G	c.(2035-2037)Atc>Gtc	p.I679V	DNM2_ENST00000314646.5_Missense_Mutation_p.I679V|DNM2_ENST00000408974.4_Missense_Mutation_p.I675V|DNM2_ENST00000359692.6_Missense_Mutation_p.I675V|DNM2_ENST00000585892.1_Missense_Mutation_p.I679V|DNM2_ENST00000389253.4_Missense_Mutation_p.I679V	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	679	GED. {ECO:0000255|PROSITE- ProRule:PRU00720}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			GCCAAAGACCATCATGCACCT	0.547			"""F, N, Splice, Mis, O"""		ETP ALL																																	ENST00000314646.5				Rec	yes		19	19p13.2	1785	"""F, N, Splice, Mis, O"""	dynamin 2			L			ETP ALL		0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42						c.(2035-2037)Atc>Gtc		dynamin 2							160.0	128.0	139.0					19																	10935874		2203	4300	6503	SO:0001583	missense	1785				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	g.chr19:10935874A>G		CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"""Pleckstrin homology (PH) domain containing"""	2974	protein-coding gene	gene with protein product	"""dynamin II"", ""cytoskeletal protein"""	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.2035A>G	19.37:g.10935874A>G	ENSP00000347890:p.Ile679Val					DNM2_ENST00000389253.4_Missense_Mutation_p.I679V|DNM2_ENST00000359692.6_Missense_Mutation_p.I675V|DNM2_ENST00000408974.4_Missense_Mutation_p.I675V|DNM2_ENST00000585892.1_Missense_Mutation_p.I679V|DNM2_ENST00000355667.6_Missense_Mutation_p.I679V	p.I679V			P50570	DYN2_HUMAN	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		18	2199	+			679			GED.		A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Missense_Mutation	SNP	ENST00000355667.6	37	c.2035A>G	CCDS45968.1	.	.	.	.	.	.	.	.	.	.	A	16.18	3.050989	0.55218	.	.	ENSG00000079805	ENST00000408974;ENST00000355667;ENST00000359692;ENST00000389253;ENST00000314646;ENST00000545324	T;T;T	0.63096	-0.02;-0.02;-0.02	5.27	5.27	0.74061	GTPase effector domain, GED (1);Dynamin GTPase effector (2);	0.000000	0.85682	D	0.000000	T	0.58004	0.2092	L	0.42008	1.315	0.58432	D	0.999998	P;B;B;B;B;B;P	0.41498	0.752;0.168;0.041;0.042;0.165;0.34;0.738	B;B;B;B;B;B;B	0.43360	0.377;0.101;0.417;0.163;0.044;0.163;0.333	T	0.55780	-0.8087	10	0.27082	T	0.32	-2.0066	14.1725	0.65519	1.0:0.0:0.0:0.0	.	273;679;408;675;675;679;679	Q8N1K8;F5H4R9;B4DJ53;A8K1B6;P50570-2;P50570;E9PEQ4	.;.;.;.;.;DYN2_HUMAN;.	V	675;675;679;679;679;286	ENSP00000386192:I675V;ENSP00000373905:I679V;ENSP00000313164:I679V	ENSP00000313164:I679V	I	+	1	0	DNM2	10796874	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.248000	0.95456	1.996000	0.58369	0.460000	0.39030	ATC		0.547	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945		8	100	0	0	0	1	0	8	100				
NPY2R	4887	broad.mit.edu	37	4	156135461	156135461	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr4:156135461C>G	ENST00000329476.3	+	2	859	c.370C>G	c.(370-372)Cac>Gac	p.H124D	NPY2R_ENST00000506608.1_Missense_Mutation_p.H124D	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	124					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral fear response (GO:0001662)|cardiac left ventricle morphogenesis (GO:0003214)|locomotory behavior (GO:0007626)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neurological system process (GO:0031645)|negative regulation of secretion (GO:0051048)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuropeptide signaling pathway (GO:0007218)|nitric oxide mediated signal transduction (GO:0007263)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell adhesion (GO:0045785)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of peptide secretion (GO:0002793)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of sensory perception of pain (GO:0051930)|secretion (GO:0046903)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|neuropeptide Y receptor activity (GO:0004983)|peptide YY receptor activity (GO:0001601)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)			Cysteamine(DB00847)	TGTCCTGTGCCACCTGGTGCC	0.527																																						ENST00000329476.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36						c.(370-372)Cac>Gac		neuropeptide Y receptor Y2							64.0	64.0	64.0					4																	156135461		2203	4300	6503	SO:0001583	missense	4887				cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	g.chr4:156135461C>G	U42766	CCDS3791.1	4q31	2012-08-08				ENSG00000185149		"""GPCR / Class A : Neuropeptide receptors : Y"""	7957	protein-coding gene	gene with protein product		162642				7559383	Standard	NM_000910		Approved		uc003ioq.3	P49146		ENST00000329476.3:c.370C>G	4.37:g.156135461C>G	ENSP00000332591:p.His124Asp					NPY2R_ENST00000506608.1_Missense_Mutation_p.H124D	p.H124D	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN			2	859	+	all_hematologic(180;0.24)	Renal(120;0.0854)	124					Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Missense_Mutation	SNP	ENST00000329476.3	37	c.370C>G	CCDS3791.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.419342	0.62622	.	.	ENSG00000185149	ENST00000329476;ENST00000506608	T;T	0.69561	-0.41;-0.41	5.44	5.44	0.79542	GPCR, rhodopsin-like superfamily (1);	0.204806	0.51477	D	0.000095	T	0.76955	0.4060	L	0.45422	1.42	0.46874	D	0.999234	D	0.76494	0.999	D	0.71184	0.972	T	0.77270	-0.2650	10	0.56958	D	0.05	.	18.6168	0.91305	0.0:1.0:0.0:0.0	.	124	P49146	NPY2R_HUMAN	D	124	ENSP00000332591:H124D;ENSP00000426366:H124D	ENSP00000332591:H124D	H	+	1	0	NPY2R	156354911	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	4.856000	0.62932	2.709000	0.92574	0.643000	0.83706	CAC		0.527	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365128.1	NM_000910		9	49	0	0	0	1	0	9	49				
RNF213	57674	broad.mit.edu	37	17	78321853	78321853	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr17:78321853C>T	ENST00000582970.1	+	29	9861	c.9718C>T	c.(9718-9720)Cgg>Tgg	p.R3240W	RNF213_ENST00000336301.6_Missense_Mutation_p.R1313W|RNF213_ENST00000508628.2_Missense_Mutation_p.R3289W	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3240					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCAGGGTCCCCGGGCCTTGAC	0.617																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(9718-9720)Cgg>Tgg		ring finger protein 213							60.0	53.0	55.0					17																	78321853		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78321853C>T	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.9718C>T	17.37:g.78321853C>T	ENSP00000464087:p.Arg3240Trp					RNF213_ENST00000508628.2_Missense_Mutation_p.R3289W|RNF213_ENST00000336301.6_Missense_Mutation_p.R1313W	p.R3240W	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		29	9861	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.9718C>T	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	C	7.753	0.703695	0.15172	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.19250	2.16	5.18	-10.4	0.00318	.	2.671170	0.01043	N	0.004334	T	0.26011	0.0634	L	0.47716	1.5	0.09310	N	1	D	0.64830	0.994	P	0.49502	0.613	T	0.64390	-0.6419	10	0.72032	D	0.01	.	13.0844	0.59132	0.3332:0.4782:0.1886:0.0	.	1313	Q63HN8	RN213_HUMAN	W	3240;3289;1313	ENSP00000338218:R1313W	ENSP00000338218:R1313W	R	+	1	2	RNF213	75936448	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.841000	0.00353	-4.929000	0.00027	-1.698000	0.00723	CGG		0.617	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		22	59	0	0	0	1	0	22	59				
IRAK4	51135	broad.mit.edu	37	12	44166765	44166765	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr12:44166765G>A	ENST00000448290.2	+	5	612	c.541G>A	c.(541-543)Gat>Aat	p.D181N	IRAK4_ENST00000551736.1_Missense_Mutation_p.D181N|IRAK4_ENST00000431837.1_Missense_Mutation_p.D57N|IRAK4_ENST00000440781.2_Missense_Mutation_p.D57N	NM_016123.3	NP_057207.2	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	181					cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		AAATAACTTTGATGAACGACC	0.308																																						ENST00000431837.1																			0											c.(169-171)Gat>Aat		interleukin-1 receptor-associated kinase 4							68.0	69.0	69.0					12																	44166765		2203	4300	6503	SO:0001583	missense	51135				innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr12:44166765G>A	AF155118	CCDS8744.1, CCDS44862.1	12q12	2014-09-17				ENSG00000198001			17967	protein-coding gene	gene with protein product		606883				3772297, 10508479	Standard	NM_001114182		Approved	NY-REN-64	uc001rnt.3	Q9NWZ3		ENST00000448290.2:c.541G>A	12.37:g.44166765G>A	ENSP00000390651:p.Asp181Asn					IRAK4_ENST00000440781.2_Missense_Mutation_p.D57N|IRAK4_ENST00000448290.2_Missense_Mutation_p.D181N|IRAK4_ENST00000551736.1_Missense_Mutation_p.D181N	p.D57N	NM_001145256.1|NM_001145257.1	NP_001138728.1|NP_001138729.1	Q9NWZ3	IRAK4_HUMAN		GBM - Glioblastoma multiforme(48;0.04)	4	477	+	all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)	181			Death.		Q69FE1|Q8TDF7|Q9Y589	Missense_Mutation	SNP	ENST00000448290.2	37	c.169G>A	CCDS8744.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.899409	0.72754	.	.	ENSG00000198001	ENST00000440781;ENST00000431837;ENST00000448290;ENST00000551736;ENST00000356669	D;D;D;D	0.93366	-3.21;-3.21;-3.21;-3.21	5.17	5.17	0.71159	Protein kinase-like domain (1);	0.046595	0.85682	D	0.000000	D	0.92420	0.7594	M	0.65975	2.015	0.58432	D	0.999999	B	0.24132	0.098	B	0.23852	0.049	D	0.89490	0.3756	10	0.30078	T	0.28	-23.9303	19.0283	0.92944	0.0:0.0:1.0:0.0	.	181	Q9NWZ3	IRAK4_HUMAN	N	57;57;181;181;181	ENSP00000408734:D57N;ENSP00000390327:D57N;ENSP00000390651:D181N;ENSP00000446490:D181N	ENSP00000349096:D181N	D	+	1	0	IRAK4	42453032	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.793000	0.75130	2.572000	0.86782	0.655000	0.94253	GAT		0.308	IRAK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403947.1			6	42	0	0	0	1	0	6	42				
DCUN1D4	23142	broad.mit.edu	37	4	52765532	52765532	+	Silent	SNP	T	T	C			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr4:52765532T>C	ENST00000334635.5	+	8	783	c.603T>C	c.(601-603)ttT>ttC	p.F201F	DCUN1D4_ENST00000381441.3_Silent_p.F201F|DCUN1D4_ENST00000451288.2_Silent_p.F245F|DCUN1D4_ENST00000381437.4_Silent_p.F141F	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 4	201	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.					nucleus (GO:0005634)				endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			GATATGCGTTTGACTTTGCAC	0.363																																						ENST00000334635.5																			0				endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9						c.(601-603)ttT>ttC		DCN1, defective in cullin neddylation 1, domain containing 4							42.0	40.0	41.0					4																	52765532		2200	4298	6498	SO:0001819	synonymous_variant	23142							g.chr4:52765532T>C	D87466	CCDS3487.2, CCDS33982.1, CCDS75123.1	4q11	2013-06-10	2013-06-10		ENSG00000109184	ENSG00000109184			28998	protein-coding gene	gene with protein product		612977	"""DCN1, defective in cullin neddylation 1, domain containing 4 (S. cerevisiae)"""			15988528	Standard	XM_005265731		Approved	KIAA0276	uc003gze.3	Q92564	OTTHUMG00000128700	ENST00000334635.5:c.603T>C	4.37:g.52765532T>C						DCUN1D4_ENST00000451288.2_Silent_p.F245F|DCUN1D4_ENST00000381441.3_Silent_p.F201F|DCUN1D4_ENST00000381437.4_Silent_p.F141F	p.F201F	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)		8	783	+			201			DCUN1.		B4DH25|Q7Z3F3|Q7Z6B8	Silent	SNP	ENST00000334635.5	37	c.603T>C	CCDS33982.1																																																																																				0.363	DCUN1D4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250599.2	NM_015115		4	47	0	0	0	1	0	4	47				
ZSWIM2	151112	broad.mit.edu	37	2	187703778	187703778	+	Silent	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr2:187703778C>T	ENST00000295131.2	-	4	441	c.402G>A	c.(400-402)ggG>ggA	p.G134G		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	134					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			GTTTAATGTACCCATCTTCTT	0.398																																						ENST00000295131.2																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52						c.(400-402)ggG>ggA		zinc finger, SWIM-type containing 2							244.0	240.0	242.0					2																	187703778		2203	4300	6503	SO:0001819	synonymous_variant	151112				apoptosis		zinc ion binding	g.chr2:187703778C>T	AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"""Zinc fingers, SWIM-type"", ""Zinc fingers, ZZ-type"""	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.402G>A	2.37:g.187703778C>T							p.G134G	NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)		4	441	-			134					B3KXV6|Q53SI3|Q57ZY3	Silent	SNP	ENST00000295131.2	37	c.402G>A	CCDS33348.1																																																																																				0.398	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	NM_182521		41	157	0	0	0	1	0	41	157				
TLR9	54106	broad.mit.edu	37	3	52256957	52256957	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr3:52256957C>T	ENST00000360658.2	-	2	2008	c.1375G>A	c.(1375-1377)Gac>Aac	p.D459N	TLR9_ENST00000494383.1_Missense_Mutation_p.G612E|TLR9_ENST00000597542.1_Missense_Mutation_p.D483N	NM_017442.3	NP_059138.1	Q9NR96	TLR9_HUMAN	toll-like receptor 9	459					defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|maintenance of gastrointestinal epithelium (GO:0030277)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to molecule of bacterial origin (GO:0002237)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)|Hydroxychloroquine(DB01611)	CTGGGAGTGTCCACTGGGGCC	0.622																																						ENST00000597542.1																			0				endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30						c.(1447-1449)Gac>Aac		toll-like receptor 9	Chloroquine(DB00608)						68.0	67.0	67.0					3																	52256957		2203	4300	6503	SO:0001583	missense	54106				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity	g.chr3:52256957C>T	AF259262	CCDS2848.1	3p21.3	2006-02-23			ENSG00000239732	ENSG00000239732		"""CD molecules"""	15633	protein-coding gene	gene with protein product		605474				11022119	Standard	NM_017442		Approved	CD289	uc003ddb.3	Q9NR96	OTTHUMG00000158106	ENST00000360658.2:c.1375G>A	3.37:g.52256957C>T	ENSP00000353874:p.Asp459Asn					TLR9_ENST00000360658.2_Missense_Mutation_p.D459N|TLR9_ENST00000494383.1_Missense_Mutation_p.G612E	p.D483N			Q9NR96	TLR9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	9	2404	-			459					B3Y661|D1CS56|Q6UVZ2|Q9HD68|Q9HD69|Q9HD70|Q9NYC2|Q9NYC3	Missense_Mutation	SNP	ENST00000360658.2	37	c.1447G>A	CCDS2848.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.64|13.64	2.296497|2.296497	0.40594|0.40594	.|.	.|.	ENSG00000239732|ENSG00000173366	ENST00000360658|ENST00000494383	T|.	0.27890|.	1.64|.	5.23|5.23	1.03|1.03	0.20045|0.20045	.|.	1.088870|.	0.07213|.	N|.	0.859609|.	T|T	0.36026|0.36026	0.0952|0.0952	L|L	0.49640|0.49640	1.575|1.575	0.09310|0.09310	N|N	1|1	B;B|.	0.33583|.	0.008;0.418|.	B;B|.	0.33620|.	0.006;0.167|.	T|T	0.28744|0.28744	-1.0034|-1.0034	10|5	0.33940|.	T|.	0.23|.	.|.	3.365|3.365	0.07201|0.07201	0.1651:0.4201:0.3217:0.093|0.1651:0.4201:0.3217:0.093	.|.	556;459|.	B4E0A1;Q9NR96|.	.;TLR9_HUMAN|.	N|E	459|612	ENSP00000353874:D459N|.	ENSP00000353874:D459N|.	D|G	-|-	1|2	0|0	TLR9|RP11-330H6.5	52231997|52231997	.|.	.|.	0.001000|0.001000	0.08648|0.08648	0.518000|0.518000	0.34316|0.34316	.|.	.|.	0.268000|0.268000	0.21939|0.21939	0.655000|0.655000	0.94253|0.94253	GAC|GGA		0.622	TLR9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350203.1			29	72	0	0	0	1	0	29	72				
MYH1	4619	broad.mit.edu	37	17	10415858	10415858	+	Silent	SNP	G	G	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr17:10415858G>A	ENST00000226207.5	-	12	1108	c.1014C>T	c.(1012-1014)gcC>gcT	p.A338A	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	338	Myosin motor.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GAATTTCAATGGCACTCTACC	0.398																																						ENST00000226207.5																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(1012-1014)gcC>gcT		myosin, heavy chain 1, skeletal muscle, adult							86.0	82.0	83.0					17																	10415858		2203	4300	6503	SO:0001819	synonymous_variant	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10415858G>A		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.1014C>T	17.37:g.10415858G>A						CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.A338A	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			12	1108	-			338			Myosin head-like.		Q14CA4|Q9Y622	Silent	SNP	ENST00000226207.5	37	c.1014C>T	CCDS11155.1																																																																																				0.398	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		6	82	0	0	0	1	0	6	82				
RAB7A	7879	broad.mit.edu	37	3	128525319	128525319	+	Silent	SNP	A	A	C			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr3:128525319A>C	ENST00000265062.3	+	4	531	c.285A>C	c.(283-285)acA>acC	p.T95T	RAB7A_ENST00000482525.1_Intron|RAB7A_ENST00000485280.1_Intron	NM_004637.5	NP_004628.4	P51149	RAB7A_HUMAN	RAB7A, member RAS oncogene family	95					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|bone resorption (GO:0045453)|cell death (GO:0008219)|early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|epidermal growth factor catabolic process (GO:0007174)|GTP catabolic process (GO:0006184)|phagosome acidification (GO:0090383)|phagosome maturation (GO:0090382)|phagosome-lysosome fusion (GO:0090385)|protein targeting to lysosome (GO:0006622)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	alveolar lamellar body (GO:0097208)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(114;0.231)		CCCCCAACACATTCAAAACCC	0.512																																						ENST00000265062.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						c.(283-285)acA>acC		RAB7A, member RAS oncogene family							134.0	125.0	128.0					3																	128525319		2203	4300	6503	SO:0001819	synonymous_variant	7879				endocytosis|endosome to lysosome transport|epidermal growth factor catabolic process|protein transport|small GTPase mediated signal transduction	Golgi apparatus|late endosome|lysosome|melanosome|phagocytic vesicle	GDP binding|GTP binding|GTPase activity|protein binding	g.chr3:128525319A>C	X93499	CCDS3052.1	3q21	2014-09-17	2007-01-15	2007-01-15	ENSG00000075785	ENSG00000075785		"""RAB, member RAS oncogene"""	9788	protein-coding gene	gene with protein product		602298	"""RAB7, member RAS oncogene family"""	RAB7		9126495, 9428630	Standard	NM_004637		Approved		uc003eks.1	P51149	OTTHUMG00000159812	ENST00000265062.3:c.285A>C	3.37:g.128525319A>C						RAB7A_ENST00000482525.1_Intron|RAB7A_ENST00000485280.1_Intron	p.T95T	NM_004637.5	NP_004628.4	P51149	RAB7A_HUMAN		GBM - Glioblastoma multiforme(114;0.231)	4	531	+			95					A8K3V6|Q9NWJ0|Q9UPB0	Silent	SNP	ENST00000265062.3	37	c.285A>C	CCDS3052.1	.	.	.	.	.	.	.	.	.	.	A	8.553	0.875927	0.17395	.	.	ENSG00000075785	ENST00000490093	.	.	.	5.62	-11.2	0.00127	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.1068	0.01696	0.1827:0.2323:0.3214:0.2635	.	.	.	.	.	-1	.	.	.	+	.	.	RAB7A	130008009	0.002000	0.14202	0.142000	0.22268	0.974000	0.67602	-1.355000	0.02612	-3.541000	0.00144	-0.297000	0.09499	.		0.512	RAB7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357479.1			26	79	0	0	0	1	0	26	79				
SOD3	6649	broad.mit.edu	37	4	24801406	24801406	+	Missense_Mutation	SNP	C	C	T	rs540249802		TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr4:24801406C>T	ENST00000382120.3	+	2	468	c.263C>T	c.(262-264)gCg>gTg	p.A88V		NM_003102.2	NP_003093.2	P08294	SODE_HUMAN	superoxide dismutase 3, extracellular	88					removal of superoxide radicals (GO:0019430)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	copper ion binding (GO:0005507)|heparin binding (GO:0008201)|superoxide dismutase activity (GO:0004784)|zinc ion binding (GO:0008270)			prostate(1)|urinary_tract(1)	2		Breast(46;0.0503)				CGGCAGCTTGCGCCCCGCGCC	0.741																																						ENST00000382120.3																			0				prostate(1)|urinary_tract(1)	2						c.(262-264)gCg>gTg		superoxide dismutase 3, extracellular																																				SO:0001583	missense	6649				removal of superoxide radicals	extracellular space|nucleus|soluble fraction	copper ion binding|heparin binding|protein binding|superoxide dismutase activity|zinc ion binding	g.chr4:24801406C>T		CCDS3430.1	4p15.2	2012-09-20			ENSG00000109610	ENSG00000109610	1.15.1.1		11181	protein-coding gene	gene with protein product		185490					Standard	NM_003102		Approved	EC-SOD	uc003gqz.3	P08294	OTTHUMG00000128565	ENST00000382120.3:c.263C>T	4.37:g.24801406C>T	ENSP00000371554:p.Ala88Val						p.A88V	NM_003102.2	NP_003093.2	P08294	SODE_HUMAN			2	468	+		Breast(46;0.0503)	88					Q5U781|Q6FHA2	Missense_Mutation	SNP	ENST00000382120.3	37	c.263C>T	CCDS3430.1	.	.	.	.	.	.	.	.	.	.	C	4.680	0.126351	0.08931	.	.	ENSG00000109610	ENST00000382120	T	0.44881	0.91	5.05	-5.64	0.02466	Superoxide dismutase, copper/zinc binding domain (3);	1.212360	0.05975	N	0.643069	T	0.16171	0.0389	L	0.35288	1.05	0.09310	N	1	P	0.47910	0.902	B	0.26094	0.066	T	0.36744	-0.9735	10	0.16420	T	0.52	-1.8964	1.3957	0.02260	0.4097:0.1525:0.2736:0.1642	.	88	P08294	SODE_HUMAN	V	88	ENSP00000371554:A88V	ENSP00000371554:A88V	A	+	2	0	SOD3	24410504	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.067000	0.11579	-0.851000	0.04147	-0.310000	0.09108	GCG		0.741	SOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250416.1			5	16	0	0	0	1	0	5	16				
GGH	8836	broad.mit.edu	37	8	63939806	63939806	+	Silent	SNP	T	T	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr8:63939806T>A	ENST00000260118.6	-	4	696	c.294A>T	c.(292-294)ggA>ggT	p.G98G	RP11-659E9.4_ENST00000521556.1_RNA|GGH_ENST00000518113.1_5'UTR	NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	98	Gamma-glutamyl hydrolase. {ECO:0000255|PROSITE-ProRule:PRU00607}.				glutamine metabolic process (GO:0006541)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	exopeptidase activity (GO:0008238)|gamma-glutamyl-peptidase activity (GO:0034722)|omega peptidase activity (GO:0008242)			breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|Methotrexate(DB00563)	GGTCAACACTTCCTCCAGGGA	0.368																																						ENST00000260118.6																			0				breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11						c.(292-294)ggA>ggT		gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	Folic Acid(DB00158)|L-Glutamic Acid(DB00142)						115.0	117.0	116.0					8																	63939806		2203	4300	6503	SO:0001819	synonymous_variant	8836				glutamine metabolic process	extracellular space|lysosome|melanosome	gamma-glutamyl-peptidase activity	g.chr8:63939806T>A	U55206	CCDS6177.1	8q12.3	2008-02-05			ENSG00000137563	ENSG00000137563	3.4.19.9		4248	protein-coding gene	gene with protein product		601509				8816764, 10570974	Standard	NM_003878		Approved		uc003xuw.3	Q92820	OTTHUMG00000164365	ENST00000260118.6:c.294A>T	8.37:g.63939806T>A						GGH_ENST00000518113.1_5'UTR	p.G98G	NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN			4	696	-	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)	98			Gamma-glutamyl hydrolase.			Silent	SNP	ENST00000260118.6	37	c.294A>T	CCDS6177.1																																																																																				0.368	GGH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378453.1			18	61	0	0	0	1	0	18	61				
KCNMA1	3778	broad.mit.edu	37	10	79163724	79163724	+	Missense_Mutation	SNP	C	C	T	rs200961174		TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr10:79163724C>T	ENST00000286628.8	-	2	435	c.436G>A	c.(436-438)Gat>Aat	p.D146N	KCNMA1_ENST00000372443.1_Missense_Mutation_p.D146N|KCNMA1_ENST00000404771.3_Missense_Mutation_p.D146N|KCNMA1_ENST00000404857.1_Missense_Mutation_p.D146N|KCNMA1_ENST00000372440.1_Missense_Mutation_p.D146N|KCNMA1_ENST00000406533.3_Missense_Mutation_p.D146N|KCNMA1_ENST00000354353.5_Missense_Mutation_p.D146N|KCNMA1_ENST00000286627.5_Missense_Mutation_p.D146N	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	146					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	TCTTTTTCATCCACTGGTTTG	0.562																																						ENST00000286627.5																			0				breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68						c.(436-438)Gat>Aat		potassium large conductance calcium-activated channel, subfamily M, alpha member 1	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)						71.0	71.0	71.0					10																	79163724		2203	4300	6503	SO:0001583	missense	3778				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	g.chr10:79163724C>T	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.436G>A	10.37:g.79163724C>T	ENSP00000286628:p.Asp146Asn					KCNMA1_ENST00000354353.5_Missense_Mutation_p.D146N|KCNMA1_ENST00000406533.3_Missense_Mutation_p.D146N|KCNMA1_ENST00000372443.1_Missense_Mutation_p.D146N|KCNMA1_ENST00000404857.1_Missense_Mutation_p.D146N|KCNMA1_ENST00000286628.8_Missense_Mutation_p.D146N|KCNMA1_ENST00000404771.3_Missense_Mutation_p.D146N|KCNMA1_ENST00000372440.1_Missense_Mutation_p.D146N	p.D146N	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		2	1388	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		146					F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	ENST00000286628.8	37	c.436G>A		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	18.39|18.39|18.39	3.612718|3.612718|3.612718	0.66672|0.66672|0.66672	.|.|.	.|.|.	ENSG00000156113|ENSG00000156113|ENSG00000156113	ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857|ENST00000372421|ENST00000372403	T;T;T;T;T;T;T;T;T|.|.	0.42131|.|.	0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98|.|.	5.39|5.39|5.39	5.39|5.39|5.39	0.77823|0.77823|0.77823	.|.|.	0.052796|.|.	0.64402|.|.	D|.|.	0.000001|.|.	T|T|.	0.60314|0.60314|.	0.2259|0.2259|.	L|L|L	0.31926|0.31926|0.31926	0.97|0.97|0.97	0.58432|0.58432|0.58432	D|D|D	0.999999|0.999999|0.999999	B;B;B;B;B|.|.	0.06786|.|.	0.0;0.0;0.001;0.0;0.0|.|.	B;B;B;B;B|.|.	0.10450|.|.	0.001;0.005;0.002;0.003;0.002|.|.	T|T|.	0.53669|0.53669|.	-0.8406|-0.8406|.	10|5|.	0.33940|.|.	T|.|.	0.23|.|.	-11.1604|-11.1604|-11.1604	19.5004|19.5004|19.5004	0.95091|0.95091|0.95091	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	146;146;146;146;146|.|.	B7ZMF5;Q12791-2;Q12791;Q12791-5;Q5SVJ7|.|.	.;.;KCMA1_HUMAN;.;.|.|.	N|E|X	146;83;81;120;83;146;146;120;146;146;146|134|96	ENSP00000361517:D146N;ENSP00000361485:D83N;ENSP00000361514:D81N;ENSP00000396608:D120N;ENSP00000361520:D146N;ENSP00000286627:D146N;ENSP00000385552:D146N;ENSP00000346321:D146N;ENSP00000385806:D146N|.|.	ENSP00000286627:D146N|.|.	D|G|W	-|-|-	1|2|3	0|0|0	KCNMA1|KCNMA1|KCNMA1	78833730|78833730|78833730	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.997000|0.997000|0.997000	0.91878|0.91878|0.91878	5.970000|5.970000|5.970000	0.70431|0.70431|0.70431	2.690000|2.690000|2.690000	0.91761|0.91761|0.91761	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	GAT|GGA|TGG		0.562	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247		11	57	0	0	0	1	0	11	57				
CCDC62	84660	broad.mit.edu	37	12	123265746	123265746	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr12:123265746C>T	ENST00000253079.6	+	3	609	c.265C>T	c.(265-267)Ctc>Ttc	p.L89F	CCDC62_ENST00000392440.2_5'Flank|CCDC62_ENST00000392441.4_Missense_Mutation_p.L89F|CCDC62_ENST00000537566.1_5'UTR	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	89					cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		AATCAGGTCACTCACGAAGAA	0.383																																						ENST00000253079.6																			0				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20						c.(265-267)Ctc>Ttc		coiled-coil domain containing 62							109.0	100.0	103.0					12																	123265746		2203	4300	6503	SO:0001583	missense	84660					cytoplasm|nucleus		g.chr12:123265746C>T		CCDS9238.1	12q24.31	2009-08-18			ENSG00000130783	ENSG00000130783			30723	protein-coding gene	gene with protein product	"""cancer/testis antigen 109"""	613481				18563714, 19126643	Standard	NM_201435		Approved	TSP-NY, FLJ40344, CT109, ERAP75	uc001udc.3	Q6P9F0	OTTHUMG00000168764	ENST00000253079.6:c.265C>T	12.37:g.123265746C>T	ENSP00000253079:p.Leu89Phe					CCDC62_ENST00000392441.4_Missense_Mutation_p.L89F|CCDC62_ENST00000537566.1_5'UTR	p.L89F	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)	3	609	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		89					A8K8V1|B3KUP3|Q6ZVF2|Q86VJ0|Q9BYZ5	Missense_Mutation	SNP	ENST00000253079.6	37	c.265C>T	CCDS9238.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.688205	0.68271	.	.	ENSG00000130783	ENST00000253079;ENST00000392441	T;T	0.58797	0.31;0.31	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000013	T	0.73233	0.3561	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.75077	-0.3445	10	0.59425	D	0.04	-8.408	10.349	0.43922	0.0:0.9115:0.0:0.0885	.	89;89	Q6P9F0-2;Q6P9F0	.;CCD62_HUMAN	F	89	ENSP00000253079:L89F;ENSP00000376236:L89F	ENSP00000253079:L89F	L	+	1	0	CCDC62	121831699	0.907000	0.30839	0.995000	0.50966	0.822000	0.46500	1.406000	0.34646	2.596000	0.87737	0.650000	0.86243	CTC		0.383	CCDC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400930.1	NM_032573		6	54	0	0	0	1	0	6	54				
SLC22A7	10864	broad.mit.edu	37	6	43266252	43266252	+	Silent	SNP	G	G	A	rs144441599	byFrequency	TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr6:43266252G>A	ENST00000372585.5	+	1	251	c.156G>A	c.(154-156)ccG>ccA	p.P52P	SLC22A7_ENST00000372589.3_Silent_p.P52P|SLC22A7_ENST00000372574.3_Silent_p.P52P|SLC22A7_ENST00000487175.1_Intron	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	52					organic anion transport (GO:0015711)|response to stilbenoid (GO:0035634)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		Acetylsalicylic acid(DB00945)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cimetidine(DB00501)|Clarithromycin(DB01211)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Docetaxel(DB01248)|Enalapril(DB00584)|Erythromycin(DB00199)|Fluorouracil(DB00544)|Ganciclovir(DB01004)|Glyburide(DB01016)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Oxtriphylline(DB01303)|Oxytetracycline(DB00595)|Pravastatin(DB00175)|Probenecid(DB01032)|Rifampicin(DB01045)|Salicylic acid(DB00936)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Valproic Acid(DB00313)|Zalcitabine(DB00943)|Zidovudine(DB00495)	GTGCCCTGCCGGGTGCCCCTG	0.657													G|||	11	0.00219649	0.0008	0.0	5008	,	,		19753	0.0		0.0	False		,,,				2504	0.0102					ENST00000372585.5																			0				NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26						c.(154-156)ccG>ccA		solute carrier family 22 (organic anion transporter), member 7		G	,	4,4402	8.1+/-20.4	0,4,2199	51.0	51.0	51.0		156,156	-8.6	0.0	6	dbSNP_134	51	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SLC22A7	NM_006672.3,NM_153320.2	,	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	,	52/547,52/549	43266252	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	10864					basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity	g.chr6:43266252G>A	AF097518	CCDS4892.1, CCDS4893.2	6p21.1	2013-05-22			ENSG00000137204	ENSG00000137204		"""Solute carriers"""	10971	protein-coding gene	gene with protein product		604995				9650585, 10773670	Standard	XM_006714970		Approved	NLT, OAT2	uc003out.3	Q9Y694	OTTHUMG00000014726	ENST00000372585.5:c.156G>A	6.37:g.43266252G>A						SLC22A7_ENST00000372574.3_Silent_p.P52P|SLC22A7_ENST00000487175.1_Intron|SLC22A7_ENST00000372589.3_Silent_p.P52P	p.P52P	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		1	251	+			52					B2CZX6|Q5T046|Q5T048|Q5T050|Q9H2W5	Silent	SNP	ENST00000372585.5	37	c.156G>A	CCDS4893.2																																																																																				0.657	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040588.1			5	58	0	0	0	1	0	5	58				
CUL3	8452	broad.mit.edu	37	2	225342986	225342986	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr2:225342986C>G	ENST00000264414.4	-	15	2444	c.2106G>C	c.(2104-2106)gaG>gaC	p.E702D	CUL3_ENST00000409777.1_Missense_Mutation_p.E678D|CUL3_ENST00000344951.4_Missense_Mutation_p.E636D|CUL3_ENST00000409096.1_Missense_Mutation_p.E678D	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	702					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)	p.E702D(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CAGCTTCTATCTCATGTTTTC	0.408																																						ENST00000264414.4																			1	Substitution - Missense(1)	p.E702D(1)	upper_aerodigestive_tract(1)	endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46						c.(2104-2106)gaG>gaC		cullin 3							207.0	186.0	193.0					2																	225342986		2203	4300	6503	SO:0001583	missense	8452				cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding	g.chr2:225342986C>G	U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.2106G>C	2.37:g.225342986C>G	ENSP00000264414:p.Glu702Asp					CUL3_ENST00000409096.1_Missense_Mutation_p.E678D|CUL3_ENST00000344951.4_Missense_Mutation_p.E636D|CUL3_ENST00000409777.1_Missense_Mutation_p.E678D	p.E702D	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)	15	2444	-		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)	702					A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Missense_Mutation	SNP	ENST00000264414.4	37	c.2106G>C	CCDS2462.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.259929	0.80246	.	.	ENSG00000036257	ENST00000264414;ENST00000344951;ENST00000409096;ENST00000409777	T;T;T;T	0.73575	-0.43;-0.17;-0.76;-0.76	6.17	5.3	0.74995	Cullin protein, neddylation domain (2);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.87116	0.6097	M	0.88031	2.925	0.58432	D	0.999999	D;D;D	0.59767	0.982;0.986;0.986	P;D;D	0.65573	0.894;0.936;0.936	D	0.87553	0.2466	10	0.34782	T	0.22	.	15.6955	0.77494	0.0:0.9348:0.0:0.0652	.	636;680;702	Q13618-3;Q53S54;Q13618	.;.;CUL3_HUMAN	D	702;636;678;678	ENSP00000264414:E702D;ENSP00000343601:E636D;ENSP00000387200:E678D;ENSP00000386525:E678D	ENSP00000264414:E702D	E	-	3	2	CUL3	225051230	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.857000	0.48349	1.625000	0.50366	0.655000	0.94253	GAG		0.408	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2			30	80	0	0	0	1	0	30	80				
ADAMTS12	81792	broad.mit.edu	37	5	33684143	33684143	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr5:33684143G>A	ENST00000504830.1	-	4	987	c.652C>T	c.(652-654)Cag>Tag	p.Q218*	ADAMTS12_ENST00000352040.3_Nonsense_Mutation_p.Q218*|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	218					cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCTTGCTTCTGGGAGATGTTA	0.453										HNSCC(64;0.19)																												ENST00000504830.1																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(652-654)Cag>Tag		ADAM metallopeptidase with thrombospondin type 1 motif, 12							61.0	56.0	57.0					5																	33684143		2203	4300	6503	SO:0001587	stop_gained	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33684143G>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.652C>T	5.37:g.33684143G>A	ENSP00000422554:p.Gln218*	HNSCC(64;0.19)				ADAMTS12_ENST00000352040.3_Nonsense_Mutation_p.Q218*|ADAMTS12_ENST00000504582.1_5'UTR	p.Q218*	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN			4	987	-			218					A2RRN9|A5D6V6|Q6UWL3	Nonsense_Mutation	SNP	ENST00000504830.1	37	c.652C>T	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.884363	0.91814	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	.	.	.	5.0	2.24	0.28232	.	0.612581	0.16859	N	0.196606	.	.	.	.	.	.	0.20563	N	0.999883	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	8.3588	0.32346	0.0:0.1516:0.4393:0.4091	.	.	.	.	X	218	.	ENSP00000344847:Q218X	Q	-	1	0	ADAMTS12	33719900	.	.	0.158000	0.22627	0.045000	0.14185	.	.	0.374000	0.24650	0.643000	0.83706	CAG		0.453	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		6	50	0	0	0	1	0	6	50				
POTEG	404785	broad.mit.edu	37	14	19563522	19563522	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr14:19563522G>C	ENST00000409832.3	+	5	1088	c.1036G>C	c.(1036-1038)Gtt>Ctt	p.V346L	RNU6-1239P_ENST00000391310.1_RNA|CTD-2311B13.5_ENST00000548748.1_lincRNA	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	346										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AGAGTATGCTGTTTCTAGTCA	0.348																																						ENST00000409832.3																			0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(1036-1038)Gtt>Ctt		POTE ankyrin domain family, member G							58.0	94.0	82.0					14																	19563522		1147	2470	3617	SO:0001583	missense	404785							g.chr14:19563522G>C		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.1036G>C	14.37:g.19563522G>C	ENSP00000386971:p.Val346Leu					CTD-2311B13.5_ENST00000548748.1_lincRNA	p.V346L	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN			5	1088	+			346					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	c.1036G>C	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	g	1.375	-0.584917	0.03827	.	.	ENSG00000222036	ENST00000409832	T	0.69175	-0.38	1.09	-2.19	0.07015	Ankyrin repeat-containing domain (4);	3.135860	0.02490	U	0.089332	T	0.61489	0.2351	L	0.47190	1.495	0.09310	N	1	P	0.34977	0.478	B	0.40477	0.33	T	0.44483	-0.9325	10	0.48119	T	0.1	.	3.5207	0.07741	0.3108:0.4784:0.2108:0.0	.	346	Q6S5H5	POTEG_HUMAN	L	346	ENSP00000386971:V346L	ENSP00000386971:V346L	V	+	1	0	POTEG	18633522	0.000000	0.05858	0.002000	0.10522	0.066000	0.16364	-6.752000	0.00055	-1.760000	0.01312	0.184000	0.17185	GTT		0.348	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		29	538	0	0	0	1	0	29	538				
FNDC3B	64778	broad.mit.edu	37	3	171969269	171969269	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr3:171969269G>A	ENST00000336824.4	+	6	827	c.728G>A	c.(727-729)gGa>gAa	p.G243E	FNDC3B_ENST00000415807.2_Missense_Mutation_p.G243E|FNDC3B_ENST00000416957.1_Missense_Mutation_p.G243E	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	243	Poly-Gly.				cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		AGTGGTCCCGGAATTAAGAAA	0.473																																						ENST00000336824.4																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69						c.(727-729)gGa>gAa		fibronectin type III domain containing 3B							79.0	80.0	80.0					3																	171969269		2203	4300	6503	SO:0001583	missense	64778					endoplasmic reticulum|integral to membrane		g.chr3:171969269G>A	AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.728G>A	3.37:g.171969269G>A	ENSP00000338523:p.Gly243Glu					FNDC3B_ENST00000416957.1_Missense_Mutation_p.G243E|FNDC3B_ENST00000415807.2_Missense_Mutation_p.G243E	p.G243E	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)	6	827	+	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		243			Poly-Gly.		B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Missense_Mutation	SNP	ENST00000336824.4	37	c.728G>A	CCDS3217.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.702886	0.48307	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957	T;T;T	0.21031	2.03;2.03;2.03	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.43787	0.1263	M	0.74881	2.28	0.80722	D	1	D;P	0.63046	0.992;0.462	P;B	0.60541	0.876;0.275	T	0.16129	-1.0413	10	0.37606	T	0.19	-20.0988	16.3839	0.83495	0.0:0.2011:0.7989:0.0	.	243;243	Q53EP0-2;Q53EP0	.;FND3B_HUMAN	E	243	ENSP00000411242:G243E;ENSP00000338523:G243E;ENSP00000389094:G243E	ENSP00000338523:G243E	G	+	2	0	FNDC3B	173451963	1.000000	0.71417	0.163000	0.22734	0.844000	0.47949	4.131000	0.57970	2.645000	0.89757	0.591000	0.81541	GGA		0.473	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763		15	59	0	0	0	1	0	15	59				
TMC7	79905	broad.mit.edu	37	16	19027866	19027866	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr16:19027866C>T	ENST00000304381.5	+	3	536	c.406C>T	c.(406-408)Cga>Tga	p.R136*	TMC7_ENST00000569532.1_Nonsense_Mutation_p.R136*|TMC7_ENST00000421369.3_Nonsense_Mutation_p.R26*	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	136					ion transport (GO:0006811)	integral component of membrane (GO:0016021)		p.R136R(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						AGAGAAGGCTCGAGAGATGAC	0.542																																						ENST00000421369.3																			1	Substitution - coding silent(1)	p.R136R(1)	lung(1)	breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						c.(76-78)Cga>Tga		transmembrane channel-like 7							120.0	95.0	103.0					16																	19027866		2197	4300	6497	SO:0001587	stop_gained	79905					integral to membrane		g.chr16:19027866C>T	AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.406C>T	16.37:g.19027866C>T	ENSP00000304710:p.Arg136*					TMC7_ENST00000569532.1_Nonsense_Mutation_p.R136*|TMC7_ENST00000304381.5_Nonsense_Mutation_p.R136*	p.R26*	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN			3	634	+			136					E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Nonsense_Mutation	SNP	ENST00000304381.5	37	c.76C>T	CCDS10573.1	.	.	.	.	.	.	.	.	.	.	C	33	5.224721	0.95173	.	.	ENSG00000170537	ENST00000304381;ENST00000421369	.	.	.	4.15	4.15	0.48705	.	0.699854	0.13987	N	0.349095	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	12.221	0.54433	0.0:1.0:0.0:0.0	.	.	.	.	X	136;26	.	ENSP00000304710:R136X	R	+	1	2	TMC7	18935367	0.366000	0.25014	0.073000	0.20177	0.837000	0.47467	2.411000	0.44600	2.607000	0.88179	0.448000	0.29417	CGA		0.542	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254276.3	NM_024847		8	40	0	0	0	1	0	8	40				
RTKN	6242	broad.mit.edu	37	2	74659633	74659633	+	Missense_Mutation	SNP	C	C	T	rs200885225	byFrequency	TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr2:74659633C>T	ENST00000233330.6	-	2	439	c.122G>A	c.(121-123)cGg>cAg	p.R41Q	RTKN_ENST00000305557.5_Missense_Mutation_p.R78Q|RTKN_ENST00000484453.1_5'Flank|RTKN_ENST00000272430.5_Missense_Mutation_p.R91Q	NM_001015056.1	NP_001015056.1			rhotekin											endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						CTCCTTGCGCCGCTGCAGCTC	0.672													C|||	2	0.000399361	0.0	0.0029	5008	,	,		20017	0.0		0.0	False		,,,				2504	0.0					ENST00000305557.5																			0				endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						c.(232-234)cGg>cAg		rhotekin							69.0	71.0	70.0					2																	74659633		2203	4300	6503	SO:0001583	missense	6242				apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity	g.chr2:74659633C>T	AF049227	CCDS1941.1, CCDS33226.1, CCDS42699.1	2p13.1	2013-01-10			ENSG00000114993	ENSG00000114993		"""Pleckstrin homology (PH) domain containing"""	10466	protein-coding gene	gene with protein product		602288				9073523, 10940294	Standard	XM_005264478		Approved	B5	uc002sle.3	Q9BST9	OTTHUMG00000129955	ENST00000233330.6:c.122G>A	2.37:g.74659633C>T	ENSP00000233330:p.Arg41Gln					RTKN_ENST00000272430.5_Missense_Mutation_p.R91Q|RTKN_ENST00000233330.6_Missense_Mutation_p.R41Q	p.R78Q	NM_033046.2	NP_149035.1	Q9BST9	RTKN_HUMAN			3	818	-			91						Missense_Mutation	SNP	ENST00000233330.6	37	c.233G>A	CCDS42699.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	C	27.7	4.853359	0.91355	.	.	ENSG00000114993	ENST00000305557;ENST00000272430;ENST00000233330	T;T;T	0.37411	2.21;1.52;1.2	4.72	4.72	0.59763	.	0.115890	0.56097	D	0.000030	T	0.22742	0.0549	N	0.22421	0.69	0.53005	D	0.999969	P;P;P	0.50272	0.917;0.933;0.917	B;P;B	0.48425	0.272;0.577;0.441	T	0.02345	-1.1173	10	0.59425	D	0.04	.	8.7429	0.34569	0.0:0.8992:0.0:0.1008	.	95;91;78	Q9BST9-3;Q9BST9;Q9BST9-2	.;RTKN_HUMAN;.	Q	78;91;41	ENSP00000305298:R78Q;ENSP00000272430:R91Q;ENSP00000233330:R41Q	ENSP00000233330:R41Q	R	-	2	0	RTKN	74513141	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.878000	0.48515	2.438000	0.82558	0.561000	0.74099	CGG		0.672	RTKN-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328236.3	NM_001015055		19	141	0	0	0	1	0	19	141				
ANKRD6	22881	broad.mit.edu	37	6	90276732	90276732	+	Missense_Mutation	SNP	C	C	T	rs373880741		TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr6:90276732C>T	ENST00000522441.1	+	2	678	c.37C>T	c.(37-39)Cgc>Tgc	p.R13C	ANKRD6_ENST00000520793.1_Missense_Mutation_p.R13C|RP11-16C18.3_ENST00000425588.1_RNA|ANKRD6_ENST00000485637.1_Missense_Mutation_p.R13C|ANKRD6_ENST00000520886.2_Intron|ANKRD6_ENST00000339746.4_Missense_Mutation_p.R13C|ANKRD6_ENST00000447838.2_Missense_Mutation_p.R13C|ANKRD6_ENST00000369408.5_Missense_Mutation_p.R13C|RP11-16C18.3_ENST00000438267.1_RNA	NM_001242811.1	NP_001229740.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	13					negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of JNK cascade (GO:0046330)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		ACTTTCAGAGCGCCTTCTCGT	0.488																																						ENST00000369408.5																			0				NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21						c.(37-39)Cgc>Tgc		ankyrin repeat domain 6		C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,3940		0,0,1970	52.0	52.0	52.0		37,37,37,37,37	5.9	1.0	6		52	1,8321		0,1,4160	no	missense,missense,missense,missense,missense	ANKRD6	NM_001242809.1,NM_001242811.1,NM_001242813.1,NM_001242814.1,NM_014942.4	180,180,180,180,180	0,1,6130	TT,TC,CC		0.012,0.0,0.0082	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	13/728,13/728,13/693,13/664,13/723	90276732	1,12261	1970	4161	6131	SO:0001583	missense	22881						protein binding	g.chr6:90276732C>T	AB023174	CCDS47460.1, CCDS56441.1, CCDS56442.1, CCDS56443.1	6q14.2-q16.1	2013-03-20			ENSG00000135299	ENSG00000135299		"""Ankyrin repeat domain containing"""	17280	protein-coding gene	gene with protein product		610583					Standard	NM_001242809		Approved	KIAA0957	uc003pni.4	Q9Y2G4	OTTHUMG00000015202	ENST00000522441.1:c.37C>T	6.37:g.90276732C>T	ENSP00000430985:p.Arg13Cys					ANKRD6_ENST00000520793.1_Missense_Mutation_p.R13C|ANKRD6_ENST00000520886.2_Intron|ANKRD6_ENST00000485637.1_Missense_Mutation_p.R13C|ANKRD6_ENST00000339746.4_Missense_Mutation_p.R13C|RP11-16C18.3_ENST00000438267.1_RNA|ANKRD6_ENST00000522441.1_Missense_Mutation_p.R13C|ANKRD6_ENST00000447838.2_Missense_Mutation_p.R13C	p.R13C	NM_001242813.1	NP_001229742.1	Q9Y2G4	ANKR6_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0209)	2	386	+		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)	13					B3KUC3|Q5JUJ4|Q5JUJ5|Q8IUQ8|Q9NU24|Q9UFQ9	Missense_Mutation	SNP	ENST00000522441.1	37	c.37C>T	CCDS56441.1	.	.	.	.	.	.	.	.	.	.	C	33	5.263023	0.95399	0.0	1.2E-4	ENSG00000135299	ENST00000369408;ENST00000339746;ENST00000447838;ENST00000520458;ENST00000465722;ENST00000523798;ENST00000522441;ENST00000522779;ENST00000485637;ENST00000522705;ENST00000518150;ENST00000520793	T;T;T;T;T;T;T;T;T;T;T	0.68765	1.09;1.02;1.02;0.93;-0.27;0.93;1.02;0.93;-0.34;0.93;-0.35	5.89	5.89	0.94794	Ankyrin repeat-containing domain (1);	0.000000	0.53938	D	0.000045	T	0.67373	0.2886	N	0.19112	0.55	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.988;0.992;0.998;0.964	T	0.68484	-0.5396	10	0.44086	T	0.13	-17.5242	20.2618	0.98447	0.0:1.0:0.0:0.0	.	13;13;13;13	B3KUC3;Q9Y2G4;Q9Y2G4-1;C9JJE8	.;ANKR6_HUMAN;.;.	C	13	ENSP00000358416:R13C;ENSP00000345767:R13C;ENSP00000396771:R13C;ENSP00000431061:R13C;ENSP00000429431:R13C;ENSP00000428377:R13C;ENSP00000430985:R13C;ENSP00000429337:R13C;ENSP00000430954:R13C;ENSP00000428309:R13C;ENSP00000429782:R13C	ENSP00000345767:R13C	R	+	1	0	ANKRD6	90333451	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.412000	0.80091	2.793000	0.96121	0.655000	0.94253	CGC		0.488	ANKRD6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376594.1			7	14	0	0	0	1	0	7	14				
SLC25A21	89874	broad.mit.edu	37	14	37153953	37153953	+	Nonsense_Mutation	SNP	C	C	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr14:37153953C>A	ENST00000331299.5	-	8	1296	c.781G>T	c.(781-783)Gaa>Taa	p.E261*	SLC25A21_ENST00000555449.1_Nonsense_Mutation_p.E261*	NM_030631.3	NP_085134.1	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial oxoadipate carrier), member 21	261					cellular nitrogen compound metabolic process (GO:0034641)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		TGTTACCCTTCTTCCTGATAG	0.388																																						ENST00000331299.5																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9						c.(781-783)Gaa>Taa		solute carrier family 25 (mitochondrial oxoadipate carrier), member 21							163.0	166.0	165.0					14																	37153953		2203	4300	6503	SO:0001587	stop_gained	89874				lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding	g.chr14:37153953C>A	AJ278148	CCDS9663.1, CCDS55913.1	14q13.3	2014-01-28	2012-03-29		ENSG00000183032	ENSG00000183032		"""Solute carriers"""	14411	protein-coding gene	gene with protein product		607571	"""solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21"""			11083877	Standard	NM_030631		Approved	ODC1, ODC	uc001wtz.2	Q9BQT8	OTTHUMG00000140250	ENST00000331299.5:c.781G>T	14.37:g.37153953C>A	ENSP00000329452:p.Glu261*					SLC25A21_ENST00000555449.1_Nonsense_Mutation_p.E261*	p.E261*	NM_030631.3	NP_085134.1	Q9BQT8	ODC_HUMAN	Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)	8	1296	-	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		261					A8K0L0|G3V4L5|Q3MJ99	Nonsense_Mutation	SNP	ENST00000331299.5	37	c.781G>T	CCDS9663.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.912578	0.92178	.	.	ENSG00000183032	ENST00000555449;ENST00000331299	.	.	.	5.67	5.67	0.87782	.	0.088025	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.1095	0.97908	0.0:1.0:0.0:0.0	.	.	.	.	X	261	.	ENSP00000329452:E261X	E	-	1	0	SLC25A21	36223704	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.610000	0.67668	2.831000	0.97527	0.655000	0.94253	GAA		0.388	SLC25A21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276732.2	NM_030631		35	113	1	0	1.42033e-22	1	1.58942e-22	35	113				
SNW1	22938	broad.mit.edu	37	14	78205121	78205121	+	Splice_Site	SNP	C	C	G			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr14:78205121C>G	ENST00000261531.7	-	5	595	c.533G>C	c.(532-534)cGa>cCa	p.R178P	SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000555761.1_Splice_Site_p.R178P|SNW1_ENST00000554775.1_Splice_Site_p.R16P	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	178	SNW.				cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin D receptor signaling pathway (GO:0070562)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|chromatin (GO:0000785)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	Notch binding (GO:0005112)|nuclear hormone receptor binding (GO:0035257)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)|SMAD binding (GO:0046332)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|vitamin D receptor binding (GO:0042809)			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		TGATTCATACCGGATATACTG	0.433																																						ENST00000261531.7																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.e5+1		SNW domain containing 1							61.0	60.0	60.0					14																	78205121		2203	4300	6503	SO:0001630	splice_region_variant	22938				negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding	g.chr14:78205121C>G	AF045184	CCDS9867.1	14q22.1-q22.3	2005-09-13	2005-09-13	2005-09-13		ENSG00000100603			16696	protein-coding gene	gene with protein product		603055	"""SKI interacting protein"""	SKIIP		8973337, 9632709	Standard	NM_012245		Approved	NCoA-62, SKIP, Prp45, PRPF45, Bx42	uc001xuf.3	Q13573		ENST00000261531.7:c.533+1G>C	14.37:g.78205121C>G						SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000554775.1_Splice_Site_p.R16_splice|SNW1_ENST00000555761.1_Splice_Site_p.R178_splice	p.R178_splice	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)	5	595	-			178			SNW.		A8K8A9|Q13483|Q32N03|Q5D0D6	Splice_Site	SNP	ENST00000261531.7	37	c.533_splice	CCDS9867.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.151744	0.78001	.	.	ENSG00000100603	ENST00000261531;ENST00000554775;ENST00000555761;ENST00000416259	.	.	.	5.81	5.81	0.92471	SKI-interacting protein SKIP, SNW domain (1);	0.099944	0.64402	D	0.000003	T	0.81959	0.4933	M	0.92649	3.33	0.80722	D	1	B;B	0.28055	0.199;0.004	B;B	0.36289	0.221;0.014	T	0.80469	-0.1369	8	.	.	.	.	20.0796	0.97766	0.0:1.0:0.0:0.0	.	178;178	G3V3A4;Q13573	.;SNW1_HUMAN	P	178;16;178;178	.	.	R	-	2	0	SNW1	77274874	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	7.411000	0.80078	2.758000	0.94735	0.460000	0.39030	CGA		0.433	SNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413912.1	NM_012245	Missense_Mutation	10	63	0	0	0	1	0	10	63				
SPG11	80208	broad.mit.edu	37	15	44892690	44892690	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr15:44892690T>C	ENST00000261866.7	-	21	3677	c.3661A>G	c.(3661-3663)Atc>Gtc	p.I1221V	SPG11_ENST00000535302.2_Missense_Mutation_p.I1221V|SPG11_ENST00000427534.2_Missense_Mutation_p.I1221V|SPG11_ENST00000558319.1_Missense_Mutation_p.I1221V	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1221					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TTGCTCTTGATTAATTCCTGG	0.393																																						ENST00000261866.7																			0				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72						c.(3661-3663)Atc>Gtc		spastic paraplegia 11 (autosomal recessive)							121.0	136.0	131.0					15																	44892690		2198	4298	6496	SO:0001583	missense	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44892690T>C		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.3661A>G	15.37:g.44892690T>C	ENSP00000261866:p.Ile1221Val					SPG11_ENST00000558319.1_Missense_Mutation_p.I1221V|SPG11_ENST00000535302.2_Missense_Mutation_p.I1221V|SPG11_ENST00000427534.2_Missense_Mutation_p.I1221V	p.I1221V	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	21	3677	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	1221					A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	c.3661A>G	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	T	3.133	-0.178046	0.06380	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.76709	-1.04;-1.04;-1.04	5.64	2.0	0.26442	.	0.937504	0.09076	N	0.852131	T	0.53786	0.1818	N	0.08118	0	0.58432	D	0.999998	B;B;B	0.16396	0.002;0.017;0.001	B;B;B	0.10450	0.002;0.005;0.001	T	0.42799	-0.9430	10	0.17369	T	0.5	.	4.0495	0.09788	0.0:0.4154:0.2133:0.3713	.	1221;1221;1221	C4B7M2;F5H3N6;Q96JI7	.;.;SPTCS_HUMAN	V	1221	ENSP00000261866:I1221V;ENSP00000445278:I1221V;ENSP00000396110:I1221V	ENSP00000261866:I1221V	I	-	1	0	SPG11	42679982	0.879000	0.30193	0.996000	0.52242	0.976000	0.68499	0.930000	0.28858	0.419000	0.25927	0.528000	0.53228	ATC		0.393	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			25	121	0	0	0	1	0	25	121				
FAM135B	51059	broad.mit.edu	37	8	139207536	139207536	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr8:139207536C>T	ENST00000395297.1	-	9	1008	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	280										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGTGTTTCTTCAACAGCAAGG	0.408										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(838-840)Gaa>Aaa		family with sequence similarity 135, member B							83.0	78.0	80.0					8																	139207536		1841	4087	5928	SO:0001583	missense	51059							g.chr8:139207536C>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.838G>A	8.37:g.139207536C>T	ENSP00000378710:p.Glu280Lys	HNSCC(54;0.14)					p.E280K	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		9	1008	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		280					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.838G>A	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	23.3	4.403133	0.83230	.	.	ENSG00000147724	ENST00000395297	T	0.80480	-1.38	4.44	4.44	0.53790	.	0.057695	0.64402	D	0.000002	D	0.87954	0.6308	M	0.75777	2.31	0.43010	D	0.994542	D	0.63880	0.993	D	0.72625	0.978	D	0.87804	0.2627	10	0.51188	T	0.08	-22.0241	12.8867	0.58049	0.0:1.0:0.0:0.0	.	280	Q49AJ0	F135B_HUMAN	K	280	ENSP00000378710:E280K	ENSP00000276737:E280K	E	-	1	0	FAM135B	139276718	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.696000	0.61774	2.759000	0.94783	0.557000	0.71058	GAA		0.408	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		14	78	0	0	0	1	0	14	78				
MT-ND5	4540	broad.mit.edu	37	M	13369	13369	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chrM:13369T>C	ENST00000361567.2	+	1	1033	c.1033T>C	c.(1033-1035)Tcc>Ccc	p.S345P	MT-TT_ENST00000387460.2_RNA|MT-TR_ENST00000387439.1_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TP_ENST00000387461.2_RNA|MT-TH_ENST00000387441.1_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TE_ENST00000387459.1_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	345					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						TGTGCTCCGGGTCCATCATCC	0.448																																						ENST00000361567.2																			0				breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						c.(1033-1035)Tcc>Ccc		mitochondrially encoded NADH dehydrogenase 5	NADH(DB00157)																																			SO:0001583	missense	4540				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chrM:13369T>C			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.1033T>C	M.37:g.13369T>C	ENSP00000354813:p.Ser345Pro						p.S345P			P03915	NU5M_HUMAN			1	1033	+			345					Q34773|Q8WCY3	Missense_Mutation	SNP	ENST00000361567.2	37	c.1033T>C																																																																																					0.448	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024036		7	3	0	0	0	1	0	7	3				
FBXL7	23194	broad.mit.edu	37	5	15936735	15936735	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr5:15936735C>T	ENST00000504595.1	+	4	1397	c.916C>T	c.(916-918)Cgc>Tgc	p.R306C	FBXL7_ENST00000510662.1_Missense_Mutation_p.R259C|FBXL7_ENST00000329673.7_Missense_Mutation_p.R294C|MIR887_ENST00000401258.1_RNA	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	306					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.R306C(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CCTCTACCTGCGCCGCTGCGT	0.647																																						ENST00000504595.1																			1	Substitution - Missense(1)	p.R306C(1)	large_intestine(1)	cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(916-918)Cgc>Tgc		F-box and leucine-rich repeat protein 7							41.0	44.0	43.0					5																	15936735		2184	4286	6470	SO:0001583	missense	23194				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:15936735C>T	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.916C>T	5.37:g.15936735C>T	ENSP00000423630:p.Arg306Cys					FBXL7_ENST00000329673.7_Missense_Mutation_p.R294C|FBXL7_ENST00000510662.1_Missense_Mutation_p.R259C	p.R306C	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN			4	1397	+			306					B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	ENST00000504595.1	37	c.916C>T	CCDS54833.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.347724	0.82022	.	.	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	T;T;T	0.02369	4.32;4.32;4.32	5.16	4.28	0.50868	.	0.048457	0.85682	D	0.000000	T	0.12603	0.0306	L	0.58583	1.82	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00643	-1.1630	10	0.72032	D	0.01	.	15.5304	0.75956	0.0:0.8611:0.1389:0.0	.	306	Q9UJT9	FBXL7_HUMAN	C	306;259;294	ENSP00000423630:R306C;ENSP00000425184:R259C;ENSP00000329632:R294C	ENSP00000329632:R294C	R	+	1	0	FBXL7	15989735	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	1.146000	0.42352	0.655000	0.94253	CGC		0.647	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304		21	28	0	0	0	1	0	21	28				
TPO	7173	broad.mit.edu	37	2	1440030	1440030	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr2:1440030T>C	ENST00000345913.4	+	5	447	c.356T>C	c.(355-357)tTa>tCa	p.L119S	TPO_ENST00000337415.3_Missense_Mutation_p.L119S|TPO_ENST00000346956.3_Missense_Mutation_p.L119S|TPO_ENST00000539820.1_Missense_Mutation_p.L119S|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Missense_Mutation_p.L119S|TPO_ENST00000329066.4_Missense_Mutation_p.L119S|TPO_ENST00000382269.3_Missense_Mutation_p.L119S|TPO_ENST00000349624.3_Missense_Mutation_p.L119S|TPO_ENST00000382201.3_Missense_Mutation_p.L119S	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	119					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	ACAGATGCTTTATCAGAAGAT	0.423																																						ENST00000345913.4																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(355-357)tTa>tCa		thyroid peroxidase	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						129.0	124.0	125.0					2																	1440030		2203	4300	6503	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1440030T>C		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.356T>C	2.37:g.1440030T>C	ENSP00000318820:p.Leu119Ser					TPO_ENST00000329066.4_Missense_Mutation_p.L119S|TPO_ENST00000346956.3_Missense_Mutation_p.L119S|TPO_ENST00000349624.3_Missense_Mutation_p.L119S|TPO_ENST00000382201.3_Missense_Mutation_p.L119S|TPO_ENST00000539820.1_Missense_Mutation_p.L119S|TPO_ENST00000382198.1_Missense_Mutation_p.L119S|TPO_ENST00000337415.3_Missense_Mutation_p.L119S|TPO_ENST00000497517.2_Intron|TPO_ENST00000382269.3_Missense_Mutation_p.L119S	p.L119S	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	5	447	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	119					P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.356T>C	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	T	15.84	2.951056	0.53186	.	.	ENSG00000115705	ENST00000382269;ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000539820;ENST00000329066;ENST00000382201;ENST00000423320;ENST00000382198;ENST00000422464	T;T;T;T;T;T;T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43	5.47	5.47	0.80525	.	0.164580	0.35970	N	0.002868	T	0.73737	0.3625	M	0.84683	2.71	0.09310	N	1	D;D;D;D;P	0.71674	0.994;0.998;0.998;0.994;0.948	P;D;P;P;P	0.71656	0.821;0.974;0.858;0.821;0.539	T	0.69818	-0.5042	10	0.87932	D	0	-1.9708	13.0803	0.59109	0.0:0.0:0.0:1.0	.	119;119;119;119;119	P07202-4;P07202-5;E9PFM6;P07202-2;P07202	.;.;.;.;PERT_HUMAN	S	119;119;119;119;119;119;119;119;119;119;48	ENSP00000371704:L119S;ENSP00000337263:L119S;ENSP00000318820:L119S;ENSP00000263886:L119S;ENSP00000332044:L119S;ENSP00000444840:L119S;ENSP00000329869:L119S;ENSP00000371636:L119S;ENSP00000390994:L119S;ENSP00000371633:L119S;ENSP00000405788:L48S	ENSP00000329869:L119S	L	+	2	0	TPO	1419037	0.050000	0.20438	0.002000	0.10522	0.007000	0.05969	3.065000	0.49994	2.074000	0.62210	0.379000	0.24179	TTA		0.423	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		13	82	0	0	0	1	0	13	82				
BOC	91653	broad.mit.edu	37	3	112989708	112989708	+	Missense_Mutation	SNP	A	A	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr3:112989708A>T	ENST00000495514.1	+	6	1288	c.584A>T	c.(583-585)gAg>gTg	p.E195V	BOC_ENST00000355385.3_Missense_Mutation_p.E195V|BOC_ENST00000273395.4_Missense_Mutation_p.E195V			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	195	Ig-like C2-type 2.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			CAGGAGGACGAGGGCATGTAC	0.607																																						ENST00000495514.1																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(583-585)gAg>gTg		BOC cell adhesion associated, oncogene regulated							145.0	137.0	140.0					3																	112989708		2203	4300	6503	SO:0001583	missense	91653				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	g.chr3:112989708A>T	AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17173	protein-coding gene	gene with protein product	"""brother of CDO"", ""brother of CDON"", ""cell adhesion associated, oncogene regulated 2"""	608708	"""Boc homolog (mouse)"""			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.584A>T	3.37:g.112989708A>T	ENSP00000418663:p.Glu195Val					BOC_ENST00000355385.3_Missense_Mutation_p.E195V|BOC_ENST00000273395.4_Missense_Mutation_p.E195V	p.E195V			Q9BWV1	BOC_HUMAN	Epithelial(53;0.227)		6	1288	+			195			Ig-like C2-type 2.		A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	ENST00000495514.1	37	c.584A>T	CCDS2971.1	.	.	.	.	.	.	.	.	.	.	A	28.2	4.896842	0.91962	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385	T;T;T	0.12569	2.67;2.67;2.67	5.8	5.8	0.92144	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.26304	0.0642	L	0.49513	1.565	0.80722	D	1	D;P	0.56287	0.975;0.898	P;P	0.58266	0.836;0.498	T	0.02190	-1.1198	10	0.16896	T	0.51	.	16.1549	0.81657	1.0:0.0:0.0:0.0	.	195;195	Q9BWV1-3;Q9BWV1	.;BOC_HUMAN	V	195	ENSP00000418663:E195V;ENSP00000273395:E195V;ENSP00000347546:E195V	ENSP00000273395:E195V	E	+	2	0	BOC	114472398	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.013000	0.76373	2.209000	0.71365	0.533000	0.62120	GAG		0.607	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254		47	131	0	0	0	1	0	47	131				
MALAT1	378938	broad.mit.edu	37	11	65270407	65270407	+	lincRNA	SNP	A	A	G			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr11:65270407A>G	ENST00000534336.1	+	0	5175					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		GAGAAATACAATGAAGAGGCA	0.294																																						ENST00000534336.1																			0																				13.0	13.0	13.0					11																	65270407		874	1984	2858			378938							g.chr11:65270407A>G	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65270407A>G								NR_002819.2						0	5175	+									RNA	SNP	ENST00000534336.1	37																																																																																						0.294	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		9	8	0	0	0	1	0	9	8				
PLEC	5339	broad.mit.edu	37	8	144995673	144995673	+	Silent	SNP	G	G	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr8:144995673G>A	ENST00000322810.4	-	32	8896	c.8727C>T	c.(8725-8727)cgC>cgT	p.R2909R	PLEC_ENST00000354958.2_Silent_p.R2750R|PLEC_ENST00000356346.3_Silent_p.R2758R|PLEC_ENST00000354589.3_Silent_p.R2772R|PLEC_ENST00000436759.2_Silent_p.R2799R|PLEC_ENST00000527096.1_Silent_p.R2795R|PLEC_ENST00000357649.2_Silent_p.R2776R|PLEC_ENST00000398774.2_Silent_p.R2740R|PLEC_ENST00000345136.3_Silent_p.R2772R	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2909	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CAGTGACGGCGCGCTCGGCCG	0.662																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(8725-8727)cgC>cgT		plectin							34.0	43.0	40.0					8																	144995673		2058	4165	6223	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144995673G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.8727C>T	8.37:g.144995673G>A						PLEC_ENST00000354589.3_Silent_p.R2772R|PLEC_ENST00000436759.2_Silent_p.R2799R|PLEC_ENST00000356346.3_Silent_p.R2758R|PLEC_ENST00000357649.2_Silent_p.R2776R|PLEC_ENST00000398774.2_Silent_p.R2740R|PLEC_ENST00000345136.3_Silent_p.R2772R|PLEC_ENST00000354958.2_Silent_p.R2750R|PLEC_ENST00000527096.1_Silent_p.R2795R	p.R2909R	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	8896	-			2909			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.8727C>T	CCDS43772.1																																																																																				0.662	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		27	75	0	0	0	1	0	27	75				
GOLGA2P5	55592	broad.mit.edu	37	12	100550594	100550594	+	RNA	SNP	G	G	C			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr12:100550594G>C	ENST00000397112.4	-	0	2227				RN7SL176P_ENST00000580352.1_RNA|AC010203.1_ENST00000408843.1_RNA	NR_036632.1		Q9HBQ8	GGA2B_HUMAN								Golgi apparatus (GO:0005794)				large_intestine(1)|lung(3)	4						TGCTGGCAAGGCTCACCTCAC	0.592																																						ENST00000397112.4																			0				large_intestine(1)|lung(3)	4																																														55592							g.chr12:100550594G>C																													12.37:g.100550594G>C								NR_036632.1						0	2227	-								Q9NSV2	RNA	SNP	ENST00000397112.4	37																																																																																						0.592	GOLGA2B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000396439.2			6	12	0	0	0	1	0	6	12				
DCTN1	1639	broad.mit.edu	37	2	74597797	74597797	+	Silent	SNP	G	G	A	rs200952455		TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr2:74597797G>A	ENST00000361874.3	-	10	1316	c.999C>T	c.(997-999)gaC>gaT	p.D333D	DCTN1_ENST00000409567.3_Silent_p.D313D|DCTN1_ENST00000409868.1_Silent_p.D316D|DCTN1_ENST00000407639.2_Silent_p.D199D|DCTN1_ENST00000409240.1_Silent_p.D296D|DCTN1_ENST00000409438.1_Silent_p.D199D|DCTN1_ENST00000394003.3_Silent_p.D326D|DCTN1_ENST00000495643.1_5'Flank	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	333					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TAGTGAGCTCGTCCACCCGCT	0.582													g|||	1	0.000199681	0.0008	0.0	5008	,	,		20930	0.0		0.0	False		,,,				2504	0.0					ENST00000361874.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						c.(997-999)gaC>gaT		dynactin 1							131.0	133.0	133.0					2																	74597797		2203	4300	6503	SO:0001819	synonymous_variant	1639				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	g.chr2:74597797G>A		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.999C>T	2.37:g.74597797G>A						DCTN1_ENST00000407639.2_Silent_p.D199D|DCTN1_ENST00000409438.1_Silent_p.D199D|DCTN1_ENST00000409868.1_Silent_p.D316D|DCTN1_ENST00000394003.3_Silent_p.D326D|DCTN1_ENST00000409567.3_Silent_p.D313D|DCTN1_ENST00000409240.1_Silent_p.D296D	p.D333D	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN			10	1316	-			333					A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Silent	SNP	ENST00000361874.3	37	c.999C>T	CCDS1939.1																																																																																				0.582	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		17	89	0	0	0	1	0	17	89				
KIAA1804	84451	broad.mit.edu	37	1	233514966	233514966	+	Silent	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr1:233514966C>T	ENST00000366624.3	+	9	2475	c.2214C>T	c.(2212-2214)gaC>gaT	p.D738D	MLK4_ENST00000366622.1_Silent_p.D184D	NM_032435.2	NP_115811.2																					TGGGACTGGACCTCAGAGAGC	0.542																																						ENST00000366624.3																			0											c.(2212-2214)gaC>gaT									69.0	75.0	73.0					1																	233514966		2203	4300	6503	SO:0001819	synonymous_variant	84451							g.chr1:233514966C>T																												ENST00000366624.3:c.2214C>T	1.37:g.233514966C>T						MLK4_ENST00000366622.1_Silent_p.D184D	p.D738D	NM_032435.2	NP_115811.2					9	2475	+									Silent	SNP	ENST00000366624.3	37	c.2214C>T	CCDS1598.1																																																																																				0.542	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1			23	82	0	0	0	1	0	23	82				
POM121	9883	broad.mit.edu	37	7	72397439	72397439	+	Silent	SNP	G	G	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr7:72397439G>A	ENST00000434423.2	+	3	960	c.960G>A	c.(958-960)gaG>gaA	p.E320E	POM121_ENST00000395270.1_Silent_p.E55E|POM121_ENST00000257622.4_Silent_p.E55E|RP11-313P13.5_ENST00000608799.1_RNA|POM121_ENST00000446813.1_Silent_p.E55E|POM121_ENST00000358357.3_Silent_p.E55E			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	320	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				AAGAGAAGGAGAAGAAAAGGA	0.483																																						ENST00000395270.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(163-165)gaG>gaA		POM121 transmembrane nucleoporin							309.0	304.0	306.0					7																	72397439		2203	4300	6503	SO:0001819	synonymous_variant	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72397439G>A	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.960G>A	7.37:g.72397439G>A						POM121_ENST00000358357.3_Silent_p.E55E|POM121_ENST00000257622.4_Silent_p.E55E|POM121_ENST00000434423.2_Silent_p.E320E|POM121_ENST00000446813.1_Silent_p.E55E	p.E55E	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN			6	1206	+		Lung NSC(55;0.163)	320			Required for targeting to the nucleus and nuclear pore complex.		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Silent	SNP	ENST00000434423.2	37	c.165G>A																																																																																					0.483	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			35	172	0	0	0	1	0	35	172				
RRP12	23223	broad.mit.edu	37	10	99148069	99148069	+	Silent	SNP	C	C	T	rs182185024		TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr10:99148069C>T	ENST00000370992.4	-	8	1068	c.957G>A	c.(955-957)ccG>ccA	p.P319P	RRP12_ENST00000536831.1_Intron|RRP12_ENST00000315563.6_Silent_p.P219P|RRP12_ENST00000414986.1_Silent_p.P258P	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	319						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		CCAGGCCTTCCGGGAAGCAGG	0.592													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19422	0.0		0.0	False		,,,				2504	0.0					ENST00000370992.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(955-957)ccG>ccA		ribosomal RNA processing 12 homolog (S. cerevisiae)		C	,	1,4405	2.1+/-5.4	0,1,2202	65.0	64.0	64.0		774,957	-11.3	0.5	10		64	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	RRP12	NM_001145114.1,NM_015179.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	258/1237,319/1298	99148069	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23223					integral to membrane|nuclear membrane|nucleolus	protein binding	g.chr10:99148069C>T		CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"""KIAA0690"""	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.957G>A	10.37:g.99148069C>T						RRP12_ENST00000315563.6_Silent_p.P219P|RRP12_ENST00000414986.1_Silent_p.P258P|RRP12_ENST00000536831.1_Intron	p.P319P	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)	8	1068	-		Colorectal(252;0.162)	319					B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Silent	SNP	ENST00000370992.4	37	c.957G>A	CCDS7457.1																																																																																				0.592	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	NM_015179		9	50	0	0	0	1	0	9	50				
LIMK1	3984	broad.mit.edu	37	7	73530278	73530278	+	Silent	SNP	G	G	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr7:73530278G>A	ENST00000336180.2	+	13	1608	c.1557G>A	c.(1555-1557)gaG>gaA	p.E519E	LIMK1_ENST00000418310.1_Silent_p.E549E|LIMK1_ENST00000538333.3_Silent_p.E485E	NM_002314.3	NP_002305.1	P53667	LIMK1_HUMAN	LIM domain kinase 1	519	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|nervous system development (GO:0007399)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of axon extension (GO:0045773)|positive regulation of stress fiber assembly (GO:0051496)|protein phosphorylation (GO:0006468)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)	ATP binding (GO:0005524)|heat shock protein binding (GO:0031072)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)			Dabrafenib(DB08912)	TGGCACCTGAGATGATCAACG	0.632																																						ENST00000418310.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						c.(1645-1647)gaG>gaA		LIM domain kinase 1							96.0	81.0	86.0					7																	73530278		2203	4300	6503	SO:0001819	synonymous_variant	3984				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding	g.chr7:73530278G>A	D26309	CCDS5563.1, CCDS56491.1	7q11.23	2005-01-21			ENSG00000106683	ENSG00000106683			6613	protein-coding gene	gene with protein product		601329				8673124, 8812460	Standard	NM_002314		Approved	LIMK	uc003uaa.2	P53667	OTTHUMG00000023448	ENST00000336180.2:c.1557G>A	7.37:g.73530278G>A						LIMK1_ENST00000336180.2_Silent_p.E519E|LIMK1_ENST00000538333.3_Silent_p.E485E	p.E549E			P53667	LIMK1_HUMAN			13	1749	+		Lung NSC(55;0.137)	519			Protein kinase.		B7Z6I8|D3DXF4|D3DXF5|O15283|Q15820|Q15821|Q75MU3|Q9Y5Q1	Silent	SNP	ENST00000336180.2	37	c.1647G>A	CCDS5563.1																																																																																				0.632	LIMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252335.2	NM_002314		16	34	0	0	0	1	0	16	34				
ETFDH	2110	broad.mit.edu	37	4	159627474	159627474	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr4:159627474C>G	ENST00000511912.1	+	11	1751	c.1419C>G	c.(1417-1419)atC>atG	p.I473M	ETFDH_ENST00000307738.5_Missense_Mutation_p.I426M	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	473					cellular metabolic process (GO:0044237)|electron transport chain (GO:0022900)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, oxidizing metal ions with flavin as acceptor (GO:0043783)|quinone binding (GO:0048038)|ubiquinone binding (GO:0048039)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		ACACTGGAATCTTTTACTGGA	0.388																																						ENST00000511912.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28						c.(1417-1419)atC>atG		electron-transferring-flavoprotein dehydrogenase							99.0	101.0	100.0					4																	159627474		2203	4300	6503	SO:0001583	missense	2110				fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding	g.chr4:159627474C>G	S69232	CCDS3800.1, CCDS64090.1	4q32-q35	2008-08-26			ENSG00000171503	ENSG00000171503			3483	protein-coding gene	gene with protein product		231675					Standard	NM_004453		Approved	ETFQO	uc003iqb.3	Q16134	OTTHUMG00000161684	ENST00000511912.1:c.1419C>G	4.37:g.159627474C>G	ENSP00000426638:p.Ile473Met					ETFDH_ENST00000307738.5_Missense_Mutation_p.I426M	p.I473M	NM_004453.2	NP_004444.2	Q16134	ETFD_HUMAN		COAD - Colon adenocarcinoma(41;0.0172)	11	1751	+	all_hematologic(180;0.24)	Renal(120;0.0458)	473					B4E3R9|J3KND9|Q7Z347	Missense_Mutation	SNP	ENST00000511912.1	37	c.1419C>G	CCDS3800.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.067346	0.36470	.	.	ENSG00000171503	ENST00000511912;ENST00000307738	D;D	0.94613	-3.47;-3.47	5.89	0.839	0.18907	.	0.239522	0.47455	D	0.000223	D	0.89684	0.6786	L	0.53249	1.67	0.47905	D	0.999545	B;B;B	0.22211	0.066;0.027;0.024	B;B;B	0.17098	0.017;0.017;0.009	T	0.81965	-0.0691	10	0.56958	D	0.05	-3.4176	3.9694	0.09446	0.3924:0.3995:0.1168:0.0913	.	426;412;473	B4E3R9;B4DEQ0;Q16134	.;.;ETFD_HUMAN	M	473;426	ENSP00000426638:I473M;ENSP00000303552:I426M	ENSP00000303552:I426M	I	+	3	3	ETFDH	159846924	0.670000	0.27512	0.999000	0.59377	0.979000	0.70002	-0.024000	0.12435	0.231000	0.21079	-0.362000	0.07510	ATC		0.388	ETFDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365718.2			15	88	0	0	0	1	0	15	88				
STX16	8675	broad.mit.edu	37	20	57245658	57245658	+	Splice_Site	SNP	G	G	C			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr20:57245658G>C	ENST00000371141.4	+	6	1371	c.647G>C	c.(646-648)cGg>cCg	p.R216P	STX16_ENST00000496003.1_3'UTR|STX16-NPEPL1_ENST00000530122.1_Splice_Site_p.R216P|STX16_ENST00000361830.3_Splice_Site_p.R216P|STX16_ENST00000358029.4_Splice_Site_p.R212P|STX16_ENST00000371132.4_Splice_Site_p.R195P|STX16_ENST00000361770.5_Splice_Site_p.R199P|STX16_ENST00000359617.4_Splice_Site_p.R163P|STX16_ENST00000355957.5_Splice_Site_p.R199P	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	syntaxin 16	216					intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			CTTTACCATCGGGTACGTGAA	0.473																																						ENST00000371141.4																			0				breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17						c.e6+1		syntaxin 16							168.0	120.0	136.0					20																	57245658		2203	4300	6503	SO:0001630	splice_region_variant	8675				intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|microsome|SNARE complex	SNAP receptor activity	g.chr20:57245658G>C	AF038897	CCDS13468.1, CCDS13469.1, CCDS46619.1, CCDS46620.1, CCDS56199.1	20q13.32	2008-07-02			ENSG00000124222	ENSG00000124222			11431	protein-coding gene	gene with protein product		603666				9464276, 9587053, 15800843	Standard	NM_003763		Approved	hsyn16, SYN16	uc002xzi.3	O14662	OTTHUMG00000033084	ENST00000371141.4:c.648+1G>C	20.37:g.57245658G>C						STX16_ENST00000359617.4_Splice_Site_p.R163_splice|STX16-NPEPL1_ENST00000530122.1_Splice_Site_p.R216_splice|STX16_ENST00000371132.4_Splice_Site_p.R195_splice|STX16_ENST00000496003.1_3'UTR|STX16_ENST00000358029.4_Splice_Site_p.R212_splice|STX16_ENST00000361770.5_Splice_Site_p.R199_splice|STX16_ENST00000361830.3_Splice_Site_p.R216_splice|STX16_ENST00000355957.5_Splice_Site_p.R199_splice	p.R216_splice	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)		6	1371	+	all_lung(29;0.0175)		216					A6NK32|A6NN69|A8MPP0|B7ZBN1|B7ZBN2|B7ZBN3|E1P5M0|E1P607|O14661|O14663|O60517|Q5W084|Q5W086|Q5W087|Q5XKI6|Q6GMS8|Q9H0Z0|Q9H1T7|Q9H1T8|Q9UIX5	Splice_Site	SNP	ENST00000371141.4	37	c.648_splice	CCDS13468.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.770078	0.49680	.	.	ENSG00000124222	ENST00000355957;ENST00000361770;ENST00000312283;ENST00000359617;ENST00000371141;ENST00000371138;ENST00000371132;ENST00000358029;ENST00000361830;ENST00000438253;ENST00000435446	T;T;T;T;T;T;T;T;T	0.42900	1.88;1.88;0.96;1.88;1.88;1.88;1.88;1.88;0.96	5.91	4.96	0.65561	t-SNARE (1);	0.122285	0.51477	U	0.000093	T	0.46328	0.1387	L	0.59436	1.845	0.40329	D	0.978902	B;P;B;P	0.46220	0.004;0.874;0.005;0.604	B;P;B;B	0.47470	0.008;0.548;0.019;0.422	T	0.41197	-0.9522	10	0.28530	T	0.3	-24.6396	13.2899	0.60264	0.0766:0.0:0.9234:0.0	.	212;199;195;216	Q6GMS8;O14662-4;O14662-2;O14662	.;.;.;STX16_HUMAN	P	199;199;163;163;216;163;195;212;216;158;30	ENSP00000348229:R199P;ENSP00000355408:R199P;ENSP00000312086:R163P;ENSP00000352634:R163P;ENSP00000360183:R216P;ENSP00000360173:R195P;ENSP00000350723:R212P;ENSP00000354445:R216P;ENSP00000401801:R158P	ENSP00000360180:R163P	R	+	2	0	STX16	56679064	1.000000	0.71417	0.997000	0.53966	0.031000	0.12232	4.489000	0.60309	1.484000	0.48361	0.655000	0.94253	CGG		0.473	STX16-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080517.2	NM_001001433	Missense_Mutation	8	85	0	0	0	1	0	8	85				
NUPL1	9818	broad.mit.edu	37	13	25883402	25883402	+	Missense_Mutation	SNP	A	A	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr13:25883402A>T	ENST00000381736.3	+	3	518	c.268A>T	c.(268-270)Act>Tct	p.T90S	NUPL1_ENST00000463407.1_Missense_Mutation_p.T90S|NUPL1_ENST00000381718.3_Intron|NUPL1_ENST00000466694.1_3'UTR	NM_001008564.1|NM_014089.3	NP_001008564.1|NP_054808.1	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	90	14 X 2 AA repeats of F-G.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	nucleocytoplasmic transporter activity (GO:0005487)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		AACAACTATAACTACAGGATT	0.328																																					Pancreas(166;1040 2004 4560 4728 37041)|GBM(109;1045 1520 7614 9308 19618)	ENST00000463407.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16						c.(268-270)Act>Tct		nucleoporin like 1							92.0	90.0	91.0					13																	25883402		2203	4299	6502	SO:0001583	missense	9818				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore		g.chr13:25883402A>T	AB007870	CCDS9314.1, CCDS31949.1	13q12.12	2011-04-12			ENSG00000139496	ENSG00000139496			20261	protein-coding gene	gene with protein product		607615				9455477	Standard	NM_014089		Approved	KIAA0410	uc001uqi.3	Q9BVL2	OTTHUMG00000016608	ENST00000381736.3:c.268A>T	13.37:g.25883402A>T	ENSP00000371155:p.Thr90Ser					NUPL1_ENST00000466694.1_3'UTR|NUPL1_ENST00000381736.3_Missense_Mutation_p.T90S|NUPL1_ENST00000381718.3_Intron	p.T90S			Q9BVL2	NUPL1_HUMAN		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)	3	411	+		Lung SC(185;0.0225)|Breast(139;0.0351)	90			14 X 2 AA repeats of F-G.		A6NI12|B4DZJ1|O43160|Q5JRG2|Q5JRG5	Missense_Mutation	SNP	ENST00000381736.3	37	c.268A>T	CCDS9314.1	.	.	.	.	.	.	.	.	.	.	A	5.502	0.277608	0.10403	.	.	ENSG00000139496	ENST00000381736;ENST00000313619;ENST00000463407;ENST00000381747	T;T;T	0.32988	1.44;1.45;1.43	5.18	-4.52	0.03472	.	0.672378	0.14270	N	0.330237	T	0.15046	0.0363	L	0.39898	1.24	0.58432	D	0.999998	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.43376	-0.9395	10	0.02654	T	1	-0.6493	6.0462	0.19762	0.1734:0.0:0.5018:0.3248	.	90;90	Q9BVL2;Q9BVL2-2	NUPL1_HUMAN;.	S	90;67;90;90	ENSP00000371155:T90S;ENSP00000418555:T90S;ENSP00000371166:T90S	ENSP00000318459:T67S	T	+	1	0	NUPL1	24781402	0.998000	0.40836	0.906000	0.35671	0.992000	0.81027	0.393000	0.20817	-0.702000	0.05056	0.379000	0.24179	ACT		0.328	NUPL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044228.2			16	23	0	0	0	1	0	16	23				
THAP10	56906	broad.mit.edu	37	15	71184275	71184275	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr15:71184275C>T	ENST00000249861.4	-	1	849	c.337G>A	c.(337-339)Gga>Aga	p.G113R	LRRC49_ENST00000260382.5_5'Flank|LRRC49_ENST00000560369.1_5'Flank|LRRC49_ENST00000443425.2_5'Flank|LRRC49_ENST00000544974.2_Intron	NM_020147.3	NP_064532.1	Q9P2Z0	THA10_HUMAN	THAP domain containing 10	113							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|kidney(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TGGAGCTCTCCTCGCGTGTCC	0.687																																						ENST00000249861.4																			0				NS(1)|kidney(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(337-339)Gga>Aga		THAP domain containing 10							34.0	34.0	34.0					15																	71184275		2199	4297	6496	SO:0001583	missense	56906						DNA binding|metal ion binding	g.chr15:71184275C>T	AL360202	CCDS10237.1	15q22.32	2013-01-25			ENSG00000129028	ENSG00000129028		"""THAP (C2CH-type zinc finger) domain containing"""	23193	protein-coding gene	gene with protein product		612538				12575992	Standard	NM_020147		Approved		uc002asv.3	Q9P2Z0	OTTHUMG00000133388	ENST00000249861.4:c.337G>A	15.37:g.71184275C>T	ENSP00000249861:p.Gly113Arg					LRRC49_ENST00000544974.2_Intron	p.G113R	NM_020147.3	NP_064532.1	Q9P2Z0	THA10_HUMAN			1	849	-			113					B2R8R0	Missense_Mutation	SNP	ENST00000249861.4	37	c.337G>A	CCDS10237.1	.	.	.	.	.	.	.	.	.	.	C	8.381	0.837418	0.16891	.	.	ENSG00000129028	ENST00000249861	.	.	.	2.23	1.24	0.21308	.	.	.	.	.	T	0.15955	0.0384	N	0.08118	0	0.09310	N	1	B	0.16603	0.018	B	0.10450	0.005	T	0.31194	-0.9952	8	0.15952	T	0.53	.	6.5679	0.22523	0.0:0.6958:0.3042:0.0	.	113	Q9P2Z0	THA10_HUMAN	R	113	.	ENSP00000249861:G113R	G	-	1	0	THAP10	68971329	0.001000	0.12720	0.002000	0.10522	0.033000	0.12548	-0.097000	0.11042	0.243000	0.21327	0.561000	0.74099	GGA		0.687	THAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257242.2	NM_020147		3	21	0	0	0	1	0	3	21				
ITLN1	55600	broad.mit.edu	37	1	160850392	160850392	+	Nonsense_Mutation	SNP	G	G	C			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr1:160850392G>C	ENST00000326245.3	-	6	786	c.671C>G	c.(670-672)tCa>tGa	p.S224*	ITLN1_ENST00000487531.1_5'UTR	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	224	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				positive regulation of glucose import (GO:0046326)|positive regulation of protein phosphorylation (GO:0001934)|response to nematode (GO:0009624)	anchored component of membrane (GO:0031225)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GCCATAGGGTGAGTAATAAGA	0.468																																						ENST00000326245.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21						c.(670-672)tCa>tGa		intelectin 1 (galactofuranose binding)							191.0	193.0	192.0					1																	160850392		2203	4300	6503	SO:0001587	stop_gained	55600				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding	g.chr1:160850392G>C	AB036706	CCDS1211.1	1q21.3	2008-02-05			ENSG00000179914	ENSG00000179914			18259	protein-coding gene	gene with protein product		609873				11313366, 11181563	Standard	NM_017625		Approved	ITLN, FLJ20022, LFR, HL-1, hIntL	uc001fxc.3	Q8WWA0	OTTHUMG00000028604	ENST00000326245.3:c.671C>G	1.37:g.160850392G>C	ENSP00000323587:p.Ser224*					ITLN1_ENST00000487531.1_5'UTR	p.S224*	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		6	786	-	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		224			Fibrinogen C-terminal.		Q5IWS4|Q5VYI4|Q6YDJ3|Q9NP67	Nonsense_Mutation	SNP	ENST00000326245.3	37	c.671C>G	CCDS1211.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.980164	0.53827	.	.	ENSG00000179914	ENST00000326245	.	.	.	4.17	3.25	0.37280	.	0.230412	0.29451	N	0.012101	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-9.3788	9.6915	0.40131	0.1041:0.0:0.8959:0.0	.	.	.	.	X	224	.	ENSP00000323587:S224X	S	-	2	0	ITLN1	159117016	1.000000	0.71417	0.494000	0.27515	0.049000	0.14656	1.981000	0.40628	0.942000	0.37525	0.655000	0.94253	TCA		0.468	ITLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071462.1	NM_017625		86	161	0	0	0	1	0	86	161				
KIAA1211	57482	broad.mit.edu	37	4	57176857	57176857	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr4:57176857G>C	ENST00000504228.1	+	4	416	c.311G>C	c.(310-312)aGt>aCt	p.S104T	KIAA1211_ENST00000541073.1_Missense_Mutation_p.S97T|KIAA1211_ENST00000505410.1_3'UTR|KIAA1211_ENST00000264229.6_Missense_Mutation_p.S104T			Q6ZU35	K1211_HUMAN	KIAA1211	104										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AGTTCTCTAAGTCCTCTGAAT	0.423																																						ENST00000504228.1																			0				endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65						c.(310-312)aGt>aCt		KIAA1211							144.0	143.0	144.0					4																	57176857		1906	4118	6024	SO:0001583	missense	57482							g.chr4:57176857G>C	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.311G>C	4.37:g.57176857G>C	ENSP00000423366:p.Ser104Thr					KIAA1211_ENST00000541073.1_Missense_Mutation_p.S97T|KIAA1211_ENST00000505410.1_3'UTR|KIAA1211_ENST00000264229.6_Missense_Mutation_p.S104T	p.S104T			Q6ZU35	K1211_HUMAN			4	416	+	Glioma(25;0.08)|all_neural(26;0.101)		104					Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	c.311G>C	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.941073	0.53079	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.14893	2.49;2.49;2.47	4.74	4.74	0.60224	.	.	.	.	.	T	0.42607	0.1210	M	0.77103	2.36	0.27920	N	0.938297	D;D;D	0.64830	0.994;0.987;0.987	D;P;P	0.65773	0.938;0.856;0.856	T	0.26018	-1.0115	9	0.59425	D	0.04	-12.3353	15.251	0.73545	0.0:0.0:1.0:0.0	.	97;97;104	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	T	104;104;97;14	ENSP00000264229:S104T;ENSP00000423366:S104T;ENSP00000444006:S97T	ENSP00000264229:S104T	S	+	2	0	KIAA1211	56871614	1.000000	0.71417	0.944000	0.38274	0.977000	0.68977	2.960000	0.49161	2.463000	0.83235	0.555000	0.69702	AGT		0.423	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		6	69	0	0	0	1	0	6	69				
ITGAD	3681	broad.mit.edu	37	16	31404690	31404690	+	Silent	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr16:31404690C>T	ENST00000389202.2	+	1	58	c.9C>T	c.(7-9)ttC>ttT	p.F3F		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	3					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGATGACCTTCGGCACTGTGC	0.587																																						ENST00000389202.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(7-9)ttC>ttT		integrin, alpha D							113.0	95.0	101.0					16																	31404690		2197	4300	6497	SO:0001819	synonymous_variant	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31404690C>T	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.9C>T	16.37:g.31404690C>T							p.F3F	NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN			1	58	+			3					Q15575|Q15576	Silent	SNP	ENST00000389202.2	37	c.9C>T	CCDS32438.1																																																																																				0.587	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		23	112	0	0	0	1	0	23	112				
TATDN1	83940	broad.mit.edu	37	8	125498726	125498726	+	IGR	SNP	A	A	G			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr8:125498726A>G	ENST00000276692.6	-	0	1018				RP11-158K1.3_ENST00000518639.1_RNA|RNF139_ENST00000303545.3_Missense_Mutation_p.N279S	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1						DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CTCATTTGCAATCTTATAATT	0.398																																						ENST00000303545.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20						c.(835-837)aAt>aGt		ring finger protein 139							116.0	106.0	109.0					8																	125498726		2203	4300	6503	SO:0001628	intergenic_variant	11236				negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr8:125498726A>G	AF212250	CCDS6351.1, CCDS55273.1	8q24.13	2004-06-07			ENSG00000147687	ENSG00000147687			24220	protein-coding gene	gene with protein product						12477932	Standard	NM_032026		Approved	CDA11	uc003yrd.2	Q6P1N9	OTTHUMG00000165068		8.37:g.125498726A>G							p.N279S	NM_007218.3	NP_009149.2	Q8WU17	RN139_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		2	1208	+	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		279					B2R5J0|Q8TD02|Q9BY40	Missense_Mutation	SNP	ENST00000276692.6	37	c.836A>G	CCDS6351.1	.	.	.	.	.	.	.	.	.	.	A	0.009	-1.839779	0.00573	.	.	ENSG00000170881	ENST00000303545	T	0.21191	2.02	5.24	1.58	0.23477	.	0.197825	0.51477	N	0.000083	T	0.07683	0.0193	N	0.05554	-0.025	0.47407	D	0.999414	B	0.16166	0.016	B	0.15052	0.012	T	0.29150	-1.0021	10	0.06099	T	0.92	-13.9892	7.5802	0.27961	0.6296:0.0:0.3704:0.0	.	279	Q8WU17	RN139_HUMAN	S	279	ENSP00000304051:N279S	ENSP00000304051:N279S	N	+	2	0	RNF139	125567907	1.000000	0.71417	0.999000	0.59377	0.308000	0.27856	4.660000	0.61511	0.390000	0.25115	-0.297000	0.09499	AAT		0.398	TATDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381655.1	NM_032026		13	74	0	0	0	1	0	13	74				
LRRC4C	57689	broad.mit.edu	37	11	40137573	40137573	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr11:40137573G>C	ENST00000278198.2	-	2	2233	c.270C>G	c.(268-270)atC>atG	p.I90M	LRRC4C_ENST00000528697.1_Missense_Mutation_p.I90M|LRRC4C_ENST00000530763.1_Missense_Mutation_p.I90M|LRRC4C_ENST00000527150.1_Missense_Mutation_p.I90M			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	90					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TCACTTTGATGATCTGGATTT	0.468																																						ENST00000278198.2																			0				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86						c.(268-270)atC>atG		leucine rich repeat containing 4C							104.0	96.0	99.0					11																	40137573		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40137573G>C	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.270C>G	11.37:g.40137573G>C	ENSP00000278198:p.Ile90Met					LRRC4C_ENST00000530763.1_Missense_Mutation_p.I90M|LRRC4C_ENST00000527150.1_Missense_Mutation_p.I90M|LRRC4C_ENST00000528697.1_Missense_Mutation_p.I90M	p.I90M			Q9HCJ2	LRC4C_HUMAN			2	2233	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	90					A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.270C>G	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	G	10.92	1.486977	0.26686	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	D;D;D;D	0.91577	-2.87;-2.87;-2.87;-2.87	5.76	4.84	0.62591	.	0.109610	0.64402	D	0.000009	D	0.85856	0.5794	L	0.45470	1.425	0.41029	D	0.985141	B	0.09022	0.002	B	0.15052	0.012	T	0.80906	-0.1173	10	0.40728	T	0.16	.	9.2472	0.37534	0.0742:0.0:0.7837:0.1421	.	90	Q9HCJ2	LRC4C_HUMAN	M	90	ENSP00000278198:I90M;ENSP00000436976:I90M;ENSP00000437132:I90M;ENSP00000434761:I90M	ENSP00000278198:I90M	I	-	3	3	LRRC4C	40094149	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.047000	0.49854	2.719000	0.93026	0.650000	0.86243	ATC		0.468	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		8	60	0	0	0	1	0	8	60				
KCTD8	386617	broad.mit.edu	37	4	44176962	44176962	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr4:44176962T>C	ENST00000360029.3	-	2	1550	c.1267A>G	c.(1267-1269)Aca>Gca	p.T423A		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	423					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						GACAGATTTGTTTCCCGGGAC	0.408										HNSCC(17;0.042)																												ENST00000360029.3																			0				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						c.(1267-1269)Aca>Gca		potassium channel tetramerization domain containing 8							210.0	221.0	217.0					4																	44176962		2203	4300	6503	SO:0001583	missense	386617					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr4:44176962T>C	AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 8"""				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.1267A>G	4.37:g.44176962T>C	ENSP00000353129:p.Thr423Ala	HNSCC(17;0.042)					p.T423A	NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN			2	1550	-			423					A2RU39	Missense_Mutation	SNP	ENST00000360029.3	37	c.1267A>G	CCDS3467.1	.	.	.	.	.	.	.	.	.	.	T	11.43	1.635357	0.29068	.	.	ENSG00000183783	ENST00000360029	T	0.37584	1.19	4.76	4.76	0.60689	.	0.000000	0.52532	D	0.000067	T	0.23054	0.0557	N	0.19112	0.55	0.27699	N	0.945869	B	0.32507	0.373	B	0.21360	0.034	T	0.24512	-1.0158	10	0.72032	D	0.01	.	13.8906	0.63736	0.0:0.0:0.0:1.0	.	423	Q6ZWB6	KCTD8_HUMAN	A	423	ENSP00000353129:T423A	ENSP00000353129:T423A	T	-	1	0	KCTD8	43871719	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	4.092000	0.57707	2.119000	0.64992	0.528000	0.53228	ACA		0.408	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1			62	135	0	0	0	1	0	62	135				
USP3	9960	broad.mit.edu	37	15	63881009	63881009	+	Silent	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr15:63881009C>T	ENST00000380324.3	+	13	1453	c.1324C>T	c.(1324-1326)Cta>Tta	p.L442L	USP3-AS1_ENST00000560622.1_RNA|USP3_ENST00000539772.1_Silent_p.L193L|USP3_ENST00000540797.1_Silent_p.L398L|USP3-AS1_ENST00000561191.1_RNA|USP3-AS1_ENST00000559737.1_RNA|USP3_ENST00000558285.1_Silent_p.L425L|USP3_ENST00000268049.7_Silent_p.L420L|USP3_ENST00000559711.1_Silent_p.L353L|USP3-AS1_ENST00000558831.1_RNA|USP3-AS1_ENST00000560350.1_RNA|USP3_ENST00000558218.1_3'UTR|USP3-AS1_ENST00000561256.1_RNA|USP3-AS1_ENST00000559357.1_RNA|USP3-AS1_ENST00000560962.1_RNA|USP3-AS1_ENST00000559861.1_RNA	NM_006537.3	NP_006528.2	Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	442	USP.				DNA repair (GO:0006281)|histone deubiquitination (GO:0016578)|mitotic cell cycle (GO:0000278)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear chromatin (GO:0000790)	histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		ATGCTACTTACTAGAGGTAAG	0.373																																						ENST00000268049.7																			0				endometrium(3)|large_intestine(7)|lung(4)	14						c.(1258-1260)Cta>Tta		ubiquitin specific peptidase 3							122.0	122.0	122.0					15																	63881009		2203	4300	6503	SO:0001819	synonymous_variant	9960				DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr15:63881009C>T	AF073344	CCDS32265.1, CCDS58370.1	15q22.3	2008-04-11	2005-08-08			ENSG00000140455		"""Ubiquitin-specific peptidases"""	12626	protein-coding gene	gene with protein product		604728	"""ubiquitin specific protease 3"""			12838346	Standard	NM_006537		Approved		uc002amf.4	Q9Y6I4		ENST00000380324.3:c.1324C>T	15.37:g.63881009C>T						USP3-AS1_ENST00000558831.1_RNA|USP3-AS1_ENST00000560962.1_RNA|USP3_ENST00000558285.1_Silent_p.L425L|USP3-AS1_ENST00000559861.1_RNA|USP3_ENST00000540797.1_Silent_p.L398L|USP3_ENST00000539772.1_Silent_p.L193L|USP3_ENST00000380324.3_Silent_p.L442L|USP3-AS1_ENST00000559737.1_RNA|USP3_ENST00000559711.1_Silent_p.L353L|USP3_ENST00000558218.1_3'UTR|USP3-AS1_ENST00000559357.1_RNA|USP3-AS1_ENST00000560350.1_RNA	p.L420L			Q9Y6I4	UBP3_HUMAN		GBM - Glioblastoma multiforme(80;0.0187)	14	1582	+			442					B4DVU5|F5H1A6|Q8WVD0	Silent	SNP	ENST00000380324.3	37	c.1258C>T	CCDS32265.1																																																																																				0.373	USP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417773.1			23	60	0	0	0	1	0	23	60				
TMEM151A	256472	broad.mit.edu	37	11	66063113	66063113	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr11:66063113G>A	ENST00000327259.4	+	2	1540	c.1396G>A	c.(1396-1398)Ggt>Agt	p.G466S		NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	466						integral component of membrane (GO:0016021)				central_nervous_system(1)|kidney(4)|lung(6)	11						GGATGGGCAGGGTGCTCTCTG	0.652																																						ENST00000327259.4																			0				central_nervous_system(1)|kidney(4)|lung(6)	11						c.(1396-1398)Ggt>Agt		transmembrane protein 151A							7.0	8.0	8.0					11																	66063113		1688	3284	4972	SO:0001583	missense	256472					integral to membrane		g.chr11:66063113G>A	BC033898	CCDS8133.1	11q13.2	2007-10-25	2007-10-25	2007-10-25	ENSG00000179292	ENSG00000179292			28497	protein-coding gene	gene with protein product			"""transmembrane protein 151"""	TMEM151		12477932	Standard	NM_153266		Approved	MGC33486	uc001ohl.3	Q8N4L1	OTTHUMG00000166920	ENST00000327259.4:c.1396G>A	11.37:g.66063113G>A	ENSP00000326244:p.Gly466Ser						p.G466S	NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN			2	1540	+			466					Q8ND14	Missense_Mutation	SNP	ENST00000327259.4	37	c.1396G>A	CCDS8133.1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.665792	0.29604	.	.	ENSG00000179292	ENST00000327259	.	.	.	4.14	3.19	0.36642	.	0.284575	0.27306	N	0.019971	T	0.14787	0.0357	N	0.08118	0	0.21967	N	0.999449	B	0.02656	0.0	B	0.04013	0.001	T	0.10800	-1.0614	9	0.28530	T	0.3	-18.8792	2.6896	0.05117	0.1027:0.1882:0.5149:0.1942	.	466	Q8N4L1	T151A_HUMAN	S	466	.	ENSP00000326244:G466S	G	+	1	0	TMEM151A	65819689	0.956000	0.32656	0.912000	0.35992	0.907000	0.53573	1.335000	0.33839	0.902000	0.36520	0.462000	0.41574	GGT		0.652	TMEM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391897.1	NM_153266		9	12	0	0	0	1	0	9	12				
CLSTN3	9746	broad.mit.edu	37	12	7288484	7288484	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr12:7288484A>G	ENST00000266546.6	+	5	1127	c.677A>G	c.(676-678)aAg>aGg	p.K226R	CLSTN3_ENST00000537408.1_Missense_Mutation_p.K238R	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	226	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						TGTGGGAAGAAGCGGGCAGCA	0.537																																						ENST00000537408.1																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						c.(712-714)aAg>aGg		calsyntenin 3							107.0	99.0	102.0					12																	7288484		2203	4300	6503	SO:0001583	missense	9746				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr12:7288484A>G	AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"""Cadherins / Cadherin-related"""	18371	protein-coding gene	gene with protein product	"""cadherin-related family member 14"""	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.677A>G	12.37:g.7288484A>G	ENSP00000266546:p.Lys226Arg					CLSTN3_ENST00000266546.6_Missense_Mutation_p.K226R	p.K238R			Q9BQT9	CSTN3_HUMAN			4	1251	+			226			Cadherin 2.		D3DUT6|O94831|Q2T9J5|Q5UE57	Missense_Mutation	SNP	ENST00000266546.6	37	c.713A>G	CCDS8575.1	.	.	.	.	.	.	.	.	.	.	A	16.94	3.261694	0.59431	.	.	ENSG00000139182	ENST00000266546;ENST00000537408	T;T	0.61274	0.12;0.12	4.89	4.89	0.63831	Cadherin (4);Cadherin-like (1);	0.144584	0.64402	D	0.000009	T	0.54498	0.1862	L	0.55213	1.73	0.50039	D	0.999847	P;P	0.43477	0.808;0.549	B;B	0.40444	0.121;0.329	T	0.60084	-0.7332	10	0.51188	T	0.08	-36.2367	14.68	0.69009	1.0:0.0:0.0:0.0	.	238;226	Q5UE57;Q9BQT9	.;CSTN3_HUMAN	R	226;238	ENSP00000266546:K226R;ENSP00000440679:K238R	ENSP00000266546:K226R	K	+	2	0	CLSTN3	7179751	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.193000	0.72075	2.053000	0.61076	0.379000	0.24179	AAG		0.537	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	NM_014718		17	55	0	0	0	1	0	17	55				
NCAM1	4684	broad.mit.edu	37	11	113085207	113085207	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr11:113085207A>G	ENST00000533760.1	+	8	1278	c.679A>G	c.(679-681)Acc>Gcc	p.T227A	NCAM1_ENST00000316851.7_Missense_Mutation_p.T335A|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.T344A	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	345	Ig-like C2-type 3.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GAGGACTTCTACCCGGAACAT	0.517																																						ENST00000316851.7																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49						c.(1003-1005)Acc>Gcc		neural cell adhesion molecule 1							60.0	62.0	61.0					11																	113085207		1916	4124	6040	SO:0001583	missense	4684				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		g.chr11:113085207A>G		CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.679A>G	11.37:g.113085207A>G	ENSP00000473281:p.Thr227Ala					NCAM1_ENST00000533760.1_Missense_Mutation_p.T227A|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.T344A	p.T335A	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)	7	1003	+		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)	345			Ig-like C2-type 4.		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	ENST00000533760.1	37	c.1003A>G		.	.	.	.	.	.	.	.	.	.	A	14.71	2.617418	0.46736	.	.	ENSG00000149294	ENST00000531044;ENST00000401611;ENST00000316851	T;T	0.74526	-0.85;-0.85	6.03	6.03	0.97812	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.053220	0.85682	D	0.000000	T	0.65893	0.2735	.	.	.	0.80722	D	1	P;B;B;B;B	0.40660	0.726;0.317;0.367;0.202;0.202	B;B;B;B;B	0.38755	0.255;0.164;0.253;0.205;0.281	T	0.63616	-0.6597	9	0.18276	T	0.48	-37.0463	16.5582	0.84512	1.0:0.0:0.0:0.0	.	345;345;345;345;345	P13591-5;P13591-1;P13591;P13591-3;P13591-6	.;.;NCAM1_HUMAN;.;.	A	227;344;335	ENSP00000384055:T344A;ENSP00000318472:T335A	ENSP00000318472:T335A	T	+	1	0	NCAM1	112590417	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.495000	0.66912	2.308000	0.77769	0.533000	0.62120	ACC		0.517	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615		6	7	0	0	0	1	0	6	7				
NOLC1	9221	broad.mit.edu	37	10	103921897	103921897	+	Silent	SNP	A	A	G			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr10:103921897A>G	ENST00000605788.1	+	13	2206	c.1971A>G	c.(1969-1971)cgA>cgG	p.R657R	NOLC1_ENST00000603742.1_Silent_p.R376R|NOLC1_ENST00000405356.1_Silent_p.R667R|NOLC1_ENST00000477977.1_Intron|NOLC1_ENST00000488254.2_Silent_p.R658R	NM_001284389.1|NM_004741.3	NP_001271318.1|NP_004732.2	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	657					cell cycle (GO:0007049)|mitotic nuclear division (GO:0007067)|nucleolus organization (GO:0007000)|rRNA processing (GO:0006364)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		GGGGAGAGCGAGCCAATCAGG	0.532																																						ENST00000405356.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31						c.(1999-2001)cgA>cgG		nucleolar and coiled-body phosphoprotein 1							137.0	151.0	146.0					10																	103921897		2203	4300	6503	SO:0001819	synonymous_variant	9221				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding	g.chr10:103921897A>G	Z34289	CCDS7530.1, CCDS65925.1, CCDS65926.1	10q24.32	2008-08-01			ENSG00000166197	ENSG00000166197			15608	protein-coding gene	gene with protein product		602394				7657714, 10567578	Standard	XM_005270273		Approved	P130, KIAA0035, NOPP140, NOPP130	uc001kuo.2	Q14978	OTTHUMG00000018944	ENST00000605788.1:c.1971A>G	10.37:g.103921897A>G						NOLC1_ENST00000477977.1_Intron|NOLC1_ENST00000488254.2_Silent_p.R658R|NOLC1_ENST00000603742.1_Silent_p.R376R|NOLC1_ENST00000605788.1_Silent_p.R657R	p.R667R			Q14978	NOLC1_HUMAN		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)	13	2236	+		Colorectal(252;0.122)	657					Q15030|Q5VV70|Q9BUV3	Silent	SNP	ENST00000605788.1	37	c.2001A>G	CCDS7530.1																																																																																				0.532	NOLC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050012.2	NM_004741		42	160	0	0	0	1	0	42	160				
TBC1D3	729873	broad.mit.edu	37	17	36352487	36352487	+	5'UTR	SNP	C	C	G	rs528631762	byFrequency	TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr17:36352487C>G	ENST00000537432.1	-	0	361				RP11-1407O15.2_ENST00000312412.4_Missense_Mutation_p.D434H|RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.D279H			Q8IZP1	TBC3A_HUMAN	TBC1 domain family, member 3							plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5	Breast(7;2.97e-12)	Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GATATAGCATCAAATATCTCA	0.393																																						ENST00000312412.4																			0				kidney(1)|lung(3)	4						c.(1300-1302)Gat>Cat																																						SO:0001623	5_prime_UTR_variant	0							g.chr17:36352487C>G		CCDS45658.1	17q12	2014-09-16			ENSG00000274611	ENSG00000274419			19031	protein-coding gene	gene with protein product	"""prostate cancer gene 17"""	607741				12604796, 12359748, 16863688	Standard	NM_001123391		Approved	TBC1D3A, DKFZp434P2235, PRC17	uc002hoo.2	Q8IZP1	OTTHUMG00000188487	ENST00000537432.1:c.-128G>C	17.37:g.36352487C>G						RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.D279H|TBC1D3_ENST00000537432.1_5'UTR	p.D434H							11	1299	-								A6NGX2|A8K007|Q6DCB4|Q9H0B9|Q9UDD4	Missense_Mutation	SNP	ENST00000537432.1	37	c.1300G>C	CCDS45658.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.22|17.22	3.334476|3.334476	0.60853|0.60853	.|.	.|.	ENSG00000174093|ENSG00000174093	ENST00000544906;ENST00000520237;ENST00000312412;ENST00000518004|ENST00000523089	T;T;T;T|.	0.03745|.	3.82;3.82;3.82;3.82|.	2.62|2.62	2.62|2.62	0.31277|0.31277	.|.	.|.	.|.	.|.	.|.	T|.	0.67277|.	0.2876|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.67256|.	-0.5716|.	6|.	0.87932|.	D|.	0|.	.|.	13.2758|13.2758	0.60186|0.60186	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	H|S	279;434;434;430|389	ENSP00000444117:D279H;ENSP00000428261:D434H;ENSP00000308540:D434H;ENSP00000428330:D430H|.	ENSP00000308540:D434H|.	D|X	-|-	1|2	0|2	RP11-1407O15.2|RP11-1407O15.2	33606286|33606286	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.731000|0.731000	0.41821|0.41821	7.442000|7.442000	0.80503|0.80503	1.458000|1.458000	0.47871|0.47871	0.194000|0.194000	0.17425|0.17425	GAT|TGA		0.393	TBC1D3-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001123391		6	67	0	0	0	1	0	6	67				
LRRTM4	80059	broad.mit.edu	37	2	76975981	76975981	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr2:76975981C>A	ENST00000409093.1	-	4	1949	c.1613G>T	c.(1612-1614)tGc>tTc	p.C538F	LRRTM4_ENST00000409911.1_Missense_Mutation_p.C539F|LRRTM4_ENST00000409884.1_Missense_Mutation_p.C538F			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	538					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GTGGGCCTGGCAGTACCCGAT	0.537																																						ENST00000409911.1																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64						c.(1615-1617)tGc>tTc		leucine rich repeat transmembrane neuronal 4							58.0	59.0	59.0					2																	76975981		1568	3582	5150	SO:0001583	missense	80059					integral to membrane		g.chr2:76975981C>A	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.1613G>T	2.37:g.76975981C>A	ENSP00000386357:p.Cys538Phe					LRRTM4_ENST00000409884.1_Missense_Mutation_p.C538F|LRRTM4_ENST00000409093.1_Missense_Mutation_p.C538F	p.C539F	NM_001134745.1	NP_001128217.1	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	1839	-			538					Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	c.1616G>T	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.937950	0.73557	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093	T;T;T	0.65549	-0.16;-0.13;-0.13	5.91	5.91	0.95273	.	.	.	.	.	T	0.70029	0.3177	L	0.27053	0.805	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.71724	-0.4506	9	0.62326	D	0.03	.	17.7956	0.88568	0.0:1.0:0.0:0.0	.	538	Q86VH4	LRRT4_HUMAN	F	539;538;538	ENSP00000387228:C539F;ENSP00000387297:C538F;ENSP00000386357:C538F	ENSP00000386357:C538F	C	-	2	0	LRRTM4	76829489	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.885000	0.69736	2.799000	0.96334	0.650000	0.86243	TGC		0.537	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		10	36	1	0	6.40141e-05	1	6.68592e-05	10	36				
INO80	54617	broad.mit.edu	37	15	41313173	41313173	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr15:41313173G>A	ENST00000361937.3	-	26	3623	c.3199C>T	c.(3199-3201)Cag>Tag	p.Q1067*	RP11-540O11.4_ENST00000558967.1_RNA|INO80_ENST00000401393.3_Nonsense_Mutation_p.Q1067*			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1067	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GGGAAGAACTGTGATCGTCTA	0.522																																						ENST00000361937.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(3199-3201)Cag>Tag		INO80 complex subunit							64.0	61.0	62.0					15																	41313173		2203	4300	6503	SO:0001587	stop_gained	54617				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity	g.chr15:41313173G>A	AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.3199C>T	15.37:g.41313173G>A	ENSP00000355205:p.Gln1067*					INO80_ENST00000401393.3_Nonsense_Mutation_p.Q1067*|RP11-540O11.4_ENST00000558967.1_RNA	p.Q1067*			Q9ULG1	INO80_HUMAN			26	3623	-			1067			Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.		A6H8X4|Q9NTG6	Nonsense_Mutation	SNP	ENST00000361937.3	37	c.3199C>T	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	G	41	9.027643	0.99040	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	.	.	.	5.35	5.35	0.76521	.	0.402709	0.29159	N	0.012978	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	19.2627	0.93974	0.0:0.0:1.0:0.0	.	.	.	.	X	1067	.	ENSP00000355205:Q1067X	Q	-	1	0	INO80	39100465	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	3.015000	0.49599	2.778000	0.95560	0.655000	0.94253	CAG		0.522	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553		11	36	0	0	0	1	0	11	36				
PXDC1	221749	broad.mit.edu	37	6	3737363	3737363	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr6:3737363T>C	ENST00000380283.4	-	3	910	c.416A>G	c.(415-417)gAt>gGt	p.D139G	PXDC1_ENST00000477592.2_5'UTR	NM_183373.3	NP_899229.2	Q5TGL8	PXDC1_HUMAN	PX domain containing 1	139							phosphatidylinositol binding (GO:0035091)										ATGCACATTATCATTTTTTAA	0.433																																						ENST00000380283.4																			0											c.(415-417)gAt>gGt		PX domain containing 1							175.0	172.0	173.0					6																	3737363		2203	4300	6503	SO:0001583	missense	221749				cell communication		phosphatidylinositol binding	g.chr6:3737363T>C	AJ420534	CCDS4486.1	6p25.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000168994	ENSG00000168994			21361	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 145"""	C6orf145			Standard	NM_183373		Approved		uc003mvt.2	Q5TGL8	OTTHUMG00000014146	ENST00000380283.4:c.416A>G	6.37:g.3737363T>C	ENSP00000369636:p.Asp139Gly					PXDC1_ENST00000477592.2_5'UTR	p.D139G	NM_183373.3	NP_899229.2	Q5TGL8	CF145_HUMAN			3	910	-			139					A8K0N3|Q6PGP0|Q86XB7	Missense_Mutation	SNP	ENST00000380283.4	37	c.416A>G	CCDS4486.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.1|25.1	4.602902|4.602902	0.87157|0.87157	.|.	.|.	ENSG00000168994|ENSG00000168994	ENST00000380283|ENST00000380277	T|.	0.69435|.	-0.4|.	5.0|5.0	5.0|5.0	0.66597|0.66597	Phox homologous domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61664|0.61664	0.2365|0.2365	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	P|.	0.44690|.	0.841|.	B|.	0.35182|.	0.197|.	T|T	0.62882|0.62882	-0.6760|-0.6760	10|5	0.59425|.	D|.	0.04|.	-40.4621|-40.4621	13.9927|13.9927	0.64376|0.64376	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	139|.	Q5TGL8|.	CF145_HUMAN|.	G|V	139|87	ENSP00000369636:D139G|.	ENSP00000369636:D139G|.	D|I	-|-	2|1	0|0	C6orf145|C6orf145	3682362|3682362	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.995000|0.995000	0.86356|0.86356	7.184000|7.184000	0.77705|0.77705	2.007000|2.007000	0.58848|0.58848	0.459000|0.459000	0.35465|0.35465	GAT|ATA		0.433	PXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039688.1	NM_183373		60	145	0	0	0	1	0	60	145				
ZCCHC6	79670	broad.mit.edu	37	9	88967696	88967696	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr9:88967696T>C	ENST00000375963.3	-	2	591	c.419A>G	c.(418-420)tAt>tGt	p.Y140C	ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.Y140C|ZCCHC6_ENST00000375947.1_5'Flank|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.Y140C	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	140					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						TTGCCACCTATAACCATCTTC	0.413																																						ENST00000375961.2																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						c.(418-420)tAt>tGt		zinc finger, CCHC domain containing 6							199.0	200.0	200.0					9																	88967696		2203	4300	6503	SO:0001583	missense	79670				RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding	g.chr9:88967696T>C	AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.419A>G	9.37:g.88967696T>C	ENSP00000365130:p.Tyr140Cys					ZCCHC6_ENST00000375963.3_Missense_Mutation_p.Y140C|ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.Y140C	p.Y140C			Q5VYS8	TUT7_HUMAN			2	633	-			140					Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	ENST00000375963.3	37	c.419A>G	CCDS35057.1	.	.	.	.	.	.	.	.	.	.	T	17.72	3.459381	0.63401	.	.	ENSG00000083223	ENST00000375960;ENST00000375961;ENST00000375963	T;T;T	0.46451	0.87;0.87;0.87	5.31	5.31	0.75309	.	0.211867	0.32134	N	0.006524	T	0.46347	0.1388	N	0.24115	0.695	0.25567	N	0.986932	D;D;D;D;D	0.65815	0.973;0.973;0.973;0.995;0.97	P;P;P;P;P	0.60415	0.724;0.724;0.724;0.874;0.541	T	0.42207	-0.9465	10	0.87932	D	0	.	13.2748	0.60182	0.0:0.0:0.0:1.0	.	140;140;140;140;140	Q5VYS8-3;Q5VYS8-5;Q5VYS8-2;Q5VYS8-4;Q5VYS8	.;.;.;.;TUT7_HUMAN	C	140	ENSP00000365127:Y140C;ENSP00000365128:Y140C;ENSP00000365130:Y140C	ENSP00000365127:Y140C	Y	-	2	0	ZCCHC6	88157516	0.856000	0.29760	0.837000	0.33122	0.902000	0.53008	1.565000	0.36386	2.243000	0.73865	0.482000	0.46254	TAT		0.413	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	NM_024617		56	86	0	0	0	1	0	56	86				
ZNF451	26036	broad.mit.edu	37	6	56989595	56989595	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr6:56989595C>T	ENST00000370706.4	+	4	494	c.250C>T	c.(250-252)Cgt>Tgt	p.R84C	RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.R84C|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.R84C|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	84					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AACTCTGGCTCGTCTAGCCCG	0.308																																						ENST00000370706.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(250-252)Cgt>Tgt		zinc finger protein 451							42.0	41.0	41.0					6																	56989595		2203	4300	6503	SO:0001583	missense	26036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:56989595C>T	AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"""Zinc fingers, C2H2-type"""	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.250C>T	6.37:g.56989595C>T	ENSP00000359740:p.Arg84Cys					RP11-203B9.4_ENST00000586053.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.R84C|ZNF451_ENST00000357489.3_Missense_Mutation_p.R84C|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|ZNF451_ENST00000370711.5_3'UTR|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA	p.R84C	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		4	494	+	Lung NSC(77;0.145)		84					Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Missense_Mutation	SNP	ENST00000370706.4	37	c.250C>T	CCDS43477.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.855526	0.91355	.	.	ENSG00000112200	ENST00000510483;ENST00000370706;ENST00000357489;ENST00000491832	T;T;T;T	0.08458	3.09;3.09;3.09;3.09	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.23611	0.0571	M	0.70275	2.135	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.998	T	0.00719	-1.1595	10	0.87932	D	0	-21.2572	19.3967	0.94610	0.0:1.0:0.0:0.0	.	84;84;84;84	Q9Y4E5-2;Q9Y4E5;E9PH99;Q4KMR5	.;ZN451_HUMAN;.;.	C	56;84;84;84	ENSP00000427558:R56C;ENSP00000359740:R84C;ENSP00000350083:R84C;ENSP00000421645:R84C	ENSP00000350083:R84C	R	+	1	0	ZNF451	57097554	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.481000	0.66826	2.665000	0.90641	0.655000	0.94253	CGT		0.308	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	NM_015555		10	23	0	0	0	1	0	10	23				
CUBN	8029	broad.mit.edu	37	10	17169924	17169924	+	Splice_Site	SNP	C	C	G			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr10:17169924C>G	ENST00000377833.4	-	3	318		c.e3-1		CUBN_ENST00000377823.1_Splice_Site	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)						cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTTTCTGGATCTAATTTTAGA	0.274																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.e3-1		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						114.0	115.0	115.0					10																	17169924		2202	4300	6502	SO:0001630	splice_region_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17169924C>G	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.253-1G>C	10.37:g.17169924C>G						CUBN_ENST00000377823.1_Splice_Site		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			3	318	-								B0YIZ4|Q5VTA6|Q96RU9	Splice_Site	SNP	ENST00000377833.4	37		CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.416664	0.62511	.	.	ENSG00000107611	ENST00000377833;ENST00000377823	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.293	0.90136	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CUBN	17209930	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.321000	0.65846	2.699000	0.92147	0.650000	0.86243	.		0.274	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081	Intron	4	51	0	0	0	1	0	4	51				
XPNPEP1	7511	broad.mit.edu	37	10	111667465	111667465	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr10:111667465G>A	ENST00000502935.1	-	3	349	c.230C>T	c.(229-231)tCg>tTg	p.S77L	XPNPEP1_ENST00000369680.4_Missense_Mutation_p.S34L|XPNPEP1_ENST00000369683.1_5'UTR|XPNPEP1_ENST00000322238.8_Missense_Mutation_p.S77L|XPNPEP1_ENST00000430337.1_5'UTR					X-prolyl aminopeptidase (aminopeptidase P) 1, soluble											endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		AGCATCTCCCGATGGGATGAT	0.498																																						ENST00000502935.1																			0				endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31						c.(229-231)tCg>tTg		X-prolyl aminopeptidase (aminopeptidase P) 1, soluble							227.0	189.0	202.0					10																	111667465		2203	4300	6503	SO:0001583	missense	7511				bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity	g.chr10:111667465G>A		CCDS7560.1, CCDS7560.2, CCDS53576.1	10q25.3	2006-01-16	2002-07-17		ENSG00000108039	ENSG00000108039	3.4.11.9		12822	protein-coding gene	gene with protein product		602443	"""X-prolyl aminopeptidase (aminopeptidase P)-like"""	XPNPEP, XPNPEPL1, XPNPEPL			Standard	NM_020383		Approved		uc001kyp.2	Q9NQW7	OTTHUMG00000019029	ENST00000502935.1:c.230C>T	10.37:g.111667465G>A	ENSP00000421566:p.Ser77Leu					XPNPEP1_ENST00000322238.8_Missense_Mutation_p.S77L|XPNPEP1_ENST00000369683.1_5'UTR|XPNPEP1_ENST00000369680.4_Missense_Mutation_p.S34L|XPNPEP1_ENST00000430337.1_5'UTR	p.S77L			Q9NQW7	XPP1_HUMAN		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)	3	349	-		Breast(234;0.174)	34						Missense_Mutation	SNP	ENST00000502935.1	37	c.230C>T	CCDS7560.2	.	.	.	.	.	.	.	.	.	.	G	25.2	4.618155	0.87359	.	.	ENSG00000108039	ENST00000502935;ENST00000322238;ENST00000369680;ENST00000403138;ENST00000423625	.	.	.	5.33	5.33	0.75918	Creatinase (1);	0.000000	0.85682	D	0.000000	D	0.85358	0.5678	M	0.92169	3.28	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.70227	0.968;0.955;0.946	D	0.88625	0.3165	9	0.66056	D	0.02	-6.8743	15.934	0.79688	0.0:0.0:1.0:0.0	.	77;77;34	B4E2P4;G5E9Y2;Q9NQW7	.;.;XPP1_HUMAN	L	77;77;34;34;34	.	ENSP00000324011:S77L	S	-	2	0	XPNPEP1	111657455	1.000000	0.71417	0.216000	0.23742	0.964000	0.63967	8.715000	0.91416	2.504000	0.84457	0.655000	0.94253	TCG		0.498	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050264.2			28	100	0	0	0	1	0	28	100				
ZNF750	79755	broad.mit.edu	37	17	80790264	80790264	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr17:80790264A>G	ENST00000269394.3	-	2	900	c.67T>C	c.(67-69)Ttc>Ctc	p.F23L	TBCD_ENST00000397466.2_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000539345.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	23					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TTATACTTGAAGGGCTTTCCT	0.418																																						ENST00000269394.3																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31						c.(67-69)Ttc>Ctc		zinc finger protein 750							93.0	101.0	98.0					17																	80790264		2203	4300	6503	SO:0001583	missense	79755					intracellular	zinc ion binding	g.chr17:80790264A>G	AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.67T>C	17.37:g.80790264A>G	ENSP00000269394:p.Phe23Leu					ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron	p.F23L	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)		2	900	-	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	23					Q9H899	Missense_Mutation	SNP	ENST00000269394.3	37	c.67T>C	CCDS11819.1	.	.	.	.	.	.	.	.	.	.	A	34	5.410954	0.96072	.	.	ENSG00000141579	ENST00000269394	T	0.36699	1.24	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000001	T	0.60766	0.2294	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.62105	-0.6924	9	.	.	.	-38.3122	15.3545	0.74418	1.0:0.0:0.0:0.0	.	23	Q32MQ0	ZN750_HUMAN	L	23	ENSP00000269394:F23L	.	F	-	1	0	ZNF750	78383553	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.160000	0.94734	2.214000	0.71695	0.533000	0.62120	TTC		0.418	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2	NM_024702		15	40	0	0	0	1	0	15	40				
KCNT2	343450	broad.mit.edu	37	1	196436881	196436881	+	Silent	SNP	T	T	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr1:196436881T>A	ENST00000294725.9	-	7	1410	c.495A>T	c.(493-495)ccA>ccT	p.P165P	KCNT2_ENST00000367433.5_Silent_p.P165P|KCNT2_ENST00000498426.1_5'Flank|KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000609185.1_Silent_p.P165P|KCNT2_ENST00000367431.4_Silent_p.P165P			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	165					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TCAGAAAGACTGGGACAAATA	0.313																																						ENST00000367433.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						c.(493-495)ccA>ccT		potassium channel, subfamily T, member 2							46.0	48.0	47.0					1																	196436881		2203	4297	6500	SO:0001819	synonymous_variant	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196436881T>A	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.495A>T	1.37:g.196436881T>A						KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000294725.8_Silent_p.P165P|KCNT2_ENST00000367431.4_Silent_p.P165P	p.P165P			Q6UVM3	KCNT2_HUMAN			7	596	-			165					Q3SY59|Q5VTN1|Q6ZMT3	Silent	SNP	ENST00000294725.9	37	c.495A>T	CCDS1384.1																																																																																				0.313	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		12	50	0	0	0	1	0	12	50				
TRAV12-2	28673	broad.mit.edu	37	14	22356168	22356168	+	RNA	SNP	G	G	C			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr14:22356168G>C	ENST00000390437.2	+	0	132									T cell receptor alpha variable 12-2																		TTTTACTAGTGATCCTGTGGC	0.368																																						ENST00000390437.2																			0																				109.0	107.0	108.0					14																	22356168		1845	4085	5930			28673							g.chr14:22356168G>C	AE000659		14q11.2	2012-02-07			ENSG00000211789	ENSG00000211789		"""T cell receptors / TRA locus"""	12106	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000168994		14.37:g.22356168G>C														0	132	+									RNA	SNP	ENST00000390437.2	37																																																																																						0.368	TRAV12-2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000401892.1	NG_001332		6	19	0	0	0	1	0	6	19				
TMEM179	388021	broad.mit.edu	37	14	105071043	105071043	+	Silent	SNP	G	G	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr14:105071043G>A	ENST00000556573.1	-	1	277	c.36C>T	c.(34-36)gcC>gcT	p.A12A	TMEM179_ENST00000341595.3_Silent_p.A12A			Q6ZVK1	T179A_HUMAN	transmembrane protein 179	12						integral component of membrane (GO:0016021)				endometrium(1)|lung(2)|skin(1)	4			all cancers(16;0.00276)|OV - Ovarian serous cystadenocarcinoma(23;0.0262)|Epithelial(46;0.058)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.129)		AGAAGTAGCAGGCGCACTGAG	0.701																																						ENST00000341595.3																			0				endometrium(1)|lung(2)|skin(1)	4						c.(34-36)gcC>gcT		transmembrane protein 179							37.0	37.0	37.0					14																	105071043		2192	4297	6489	SO:0001819	synonymous_variant	388021					integral to membrane		g.chr14:105071043G>A	AK124477	CCDS66723.1, CCDS73688.1	14q32.33	2012-04-11	2006-10-16	2006-10-16	ENSG00000258986	ENSG00000258986			20137	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 90"""	C14orf90			Standard	NM_001286390		Approved	FLJ42486, TMEM179A	uc001yox.1	Q6ZVK1	OTTHUMG00000170829	ENST00000556573.1:c.36C>T	14.37:g.105071043G>A						TMEM179_ENST00000556573.1_Silent_p.A12A	p.A12A	NM_207379.1	NP_997262.1	Q6ZVK1	T179A_HUMAN	all cancers(16;0.00276)|OV - Ovarian serous cystadenocarcinoma(23;0.0262)|Epithelial(46;0.058)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.129)	1	941	-			12						Silent	SNP	ENST00000556573.1	37	c.36C>T																																																																																					0.701	TMEM179-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000410585.1	NM_207379		8	13	0	0	0	1	0	8	13				
TMEM213	155006	broad.mit.edu	37	7	138482852	138482852	+	Start_Codon_SNP	SNP	G	G	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr7:138482852G>A	ENST00000442682.2	+	1	156	c.3G>A	c.(1-3)atG>atA	p.M1I	ATP6V0A4_ENST00000353492.4_5'Flank|ATP6V0A4_ENST00000310018.2_5'UTR|TMEM213_ENST00000397602.3_Start_Codon_SNP_p.M1I|TMEM213_ENST00000413208.1_Start_Codon_SNP_p.M1I|TMEM213_ENST00000458494.1_Start_Codon_SNP_p.M1I|TMEM213_ENST00000422794.2_Missense_Mutation_p.M52I	NM_001085429.1	NP_001078898.1	A2RRL7	TM213_HUMAN	transmembrane protein 213	1						integral component of membrane (GO:0016021)		p.Q2fs*7(2)		breast(1)|endometrium(3)|kidney(1)|lung(1)	6						CCTCCAGCATGCAGCGCCTCC	0.657																																						ENST00000422794.2																			2	Deletion - Frameshift(2)	p.Q2fs*7(2)	breast(2)	breast(1)|endometrium(3)|kidney(1)|lung(1)	6						c.(154-156)atG>atA		transmembrane protein 213							15.0	19.0	18.0					7																	138482852		2184	4273	6457	SO:0001582	initiator_codon_variant	155006					integral to membrane		g.chr7:138482852G>A		CCDS47722.1	7q34	2008-08-08			ENSG00000214128	ENSG00000214128			27220	protein-coding gene	gene with protein product							Standard	NM_001085429		Approved		uc010lna.3	A2RRL7	OTTHUMG00000157182	ENST00000442682.2:c.3G>A	7.37:g.138482852G>A	ENSP00000390407:p.Met1Ile					ATP6V0A4_ENST00000310018.2_5'UTR|TMEM213_ENST00000397602.3_Start_Codon_SNP_p.M1I|TMEM213_ENST00000458494.1_Start_Codon_SNP_p.M1I|TMEM213_ENST00000442682.2_Start_Codon_SNP_p.M1I|TMEM213_ENST00000413208.1_Start_Codon_SNP_p.M1I	p.M52I			A2RRL7	TM213_HUMAN			1	158	+			1					A4D1R3|C9JH49|C9JX41|C9K0P0	Missense_Mutation	SNP	ENST00000442682.2	37	c.156G>A	CCDS47722.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.859408	0.32884	.	.	ENSG00000214128	ENST00000422794;ENST00000397602;ENST00000442682;ENST00000458494;ENST00000413208	.	.	.	4.52	1.41	0.22369	.	.	.	.	.	T	0.31638	0.0803	.	.	.	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.10450	0.005;0.005	T	0.28586	-1.0039	7	0.87932	D;D	0;0	-4.3604	7.39	0.26905	0.0:0.1593:0.4888:0.3518	.	1;1	A2RRL7-3;A2RRL7	.;TM213_HUMAN	I	52;1;1;1;1	.	ENSP00000380727:M1I;ENSP00000380727:M1I	M	+	3	0	TMEM213	138133392	0.001000	0.12720	0.000000	0.03702	0.043000	0.13939	0.786000	0.26844	-0.041000	0.13558	0.609000	0.83330	ATG		0.657	TMEM213-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347800.2	NM_001085429	Missense_Mutation	3	14	0	0	0	1	0	3	14				
AK5	26289	broad.mit.edu	37	1	77987628	77987628	+	Splice_Site	SNP	G	G	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr1:77987628G>T	ENST00000354567.2	+	12	1691	c.1428G>T	c.(1426-1428)agG>agT	p.R476S	AK5_ENST00000344720.5_Splice_Site_p.R450S	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	476	Adenylate kinase 2.				ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						TCGGACGCAGGGTGAGTGGTT	0.517																																						ENST00000344720.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						c.e12+1		adenylate kinase 5							47.0	49.0	48.0					1																	77987628		2203	4300	6503	SO:0001630	splice_region_variant	26289				ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity	g.chr1:77987628G>T	AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"""Adenylate kinases"""	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.1428+1G>T	1.37:g.77987628G>T						AK5_ENST00000354567.2_Splice_Site_p.R476_splice	p.R450_splice	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN			12	2376	+			476					Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Splice_Site	SNP	ENST00000354567.2	37	c.1350_splice	CCDS675.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.504921	0.64410	.	.	ENSG00000154027	ENST00000354567;ENST00000344720	T;T	0.76060	-0.99;-0.99	4.76	4.76	0.60689	.	0.155823	0.42172	D	0.000741	T	0.41003	0.1140	N	0.10874	0.06	0.80722	D	1	B	0.21309	0.054	B	0.24269	0.052	T	0.41052	-0.9530	10	0.13108	T	0.6	6.0E-4	16.9143	0.86147	0.0:0.0:1.0:0.0	.	476	Q9Y6K8	KAD5_HUMAN	S	476;450	ENSP00000346577:R476S;ENSP00000341430:R450S	ENSP00000341430:R450S	R	+	3	2	AK5	77760216	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.791000	0.91849	2.343000	0.79666	0.650000	0.86243	AGG		0.517	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026993.4	NM_174858	Missense_Mutation	10	19	1	0	3.86212e-05	1	4.0563e-05	10	19				
SMG1	23049	broad.mit.edu	37	16	18882711	18882711	+	Silent	SNP	T	T	C			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr16:18882711T>C	ENST00000446231.2	-	16	2689	c.2277A>G	c.(2275-2277)aaA>aaG	p.K759K	SMG1_ENST00000389467.3_Silent_p.K759K|snoU13_ENST00000459248.1_RNA			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	759	Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CTTTGCAAAATTTATGGAAAG	0.353																																						ENST00000446231.2																			0				NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						c.(2275-2277)aaA>aaG		SMG1 phosphatidylinositol 3-kinase-related kinase							44.0	41.0	42.0					16																	18882711		1803	4066	5869	SO:0001819	synonymous_variant	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18882711T>C	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.2277A>G	16.37:g.18882711T>C						SMG1_ENST00000389467.3_Silent_p.K759K	p.K759K			Q96Q15	SMG1_HUMAN			16	2689	-			759			Interaction with SMG8 and SMG9.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Silent	SNP	ENST00000446231.2	37	c.2277A>G	CCDS45430.1																																																																																				0.353	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		4	12	0	0	0	1	0	4	12				
SEMA6C	10500	broad.mit.edu	37	1	151105571	151105571	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr1:151105571C>T	ENST00000341697.3	-	19	3873	c.2182G>A	c.(2182-2184)Gcc>Acc	p.A728T	SEMA6C_ENST00000479820.1_5'Flank|RP11-68I18.10_ENST00000563624.1_RNA			Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	728					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCCTCCTTGGCGTTGTTCCTG	0.786																																						ENST00000341697.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28						c.(2182-2184)Gcc>Acc		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C							7.0	8.0	8.0					1																	151105571		1534	2920	4454	SO:0001583	missense	10500					integral to membrane	receptor activity	g.chr1:151105571C>T	AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"""Semaphorins"""	10740	protein-coding gene	gene with protein product	"""m-Sema Y2"""	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.2182G>A	1.37:g.151105571C>T	ENSP00000344148:p.Ala728Thr						p.A728T			Q9H3T2	SEM6C_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		19	3873	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		728					D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Missense_Mutation	SNP	ENST00000341697.3	37	c.2182G>A	CCDS984.1	.	.	.	.	.	.	.	.	.	.	c	20.6	4.018461	0.75275	.	.	ENSG00000143434	ENST00000368914;ENST00000368912;ENST00000368913;ENST00000341697	T;T;T;T	0.27256	1.68;1.93;1.76;1.68	3.74	3.74	0.42951	.	420.798000	0.00853	U	0.001858	T	0.17109	0.0411	L	0.47190	1.495	0.52501	D	0.999955	P;B;P	0.43909	0.821;0.252;0.727	B;B;B	0.40101	0.319;0.195;0.17	T	0.27400	-1.0075	10	0.46703	T	0.11	.	13.0858	0.59140	0.0:1.0:0.0:0.0	.	720;760;728	Q9H3T2-2;Q9H3T2-3;Q9H3T2	.;.;SEM6C_HUMAN	T	728;720;760;728	ENSP00000357910:A728T;ENSP00000357908:A720T;ENSP00000357909:A760T;ENSP00000344148:A728T	ENSP00000344148:A728T	A	-	1	0	SEMA6C	149372195	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.216000	0.51176	1.912000	0.55364	0.556000	0.70494	GCC		0.786	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034074.1	NM_030913		6	19	0	0	0	1	0	6	19				
ALG5	29880	broad.mit.edu	37	13	37569650	37569650	+	Silent	SNP	T	T	C			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr13:37569650T>C	ENST00000239891.3	-	2	216	c.150A>G	c.(148-150)aaA>aaG	p.K50K	ALG5_ENST00000496689.1_5'UTR|ALG5_ENST00000443765.1_Silent_p.K50K|ALG5_ENST00000413537.2_Silent_p.K50K	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN	ALG5, dolichyl-phosphate beta-glucosyltransferase	50					cellular protein metabolic process (GO:0044267)|determination of left/right symmetry (GO:0007368)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	dolichyl-phosphate beta-glucosyltransferase activity (GO:0004581)|oligosaccharyl transferase activity (GO:0004576)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		CTTTCTGGCCTTTGGCATTTA	0.403																																						ENST00000239891.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(148-150)aaA>aaG		ALG5, dolichyl-phosphate beta-glucosyltransferase							120.0	116.0	118.0					13																	37569650		2203	4300	6503	SO:0001819	synonymous_variant	29880				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity	g.chr13:37569650T>C	AF088028	CCDS9361.1, CCDS45033.1	13q13.1	2013-02-22	2013-02-21		ENSG00000120697	ENSG00000120697	2.4.1.117	"""Glycosyltransferase family 2 domain containing"""	20266	protein-coding gene	gene with protein product		604565	"""asparagine-linked glycosylation 5 homolog (yeast, dolichyl-phosphate beta-glucosyltransferase)"", ""asparagine-linked glycosylation 5, dolichyl-phosphate beta-glucosyltransferase homolog (S. cerevisiae)"""			10359825	Standard	NM_013338		Approved	bA421P11.2	uc001uvy.3	Q9Y673	OTTHUMG00000016741	ENST00000239891.3:c.150A>G	13.37:g.37569650T>C						ALG5_ENST00000496689.1_5'UTR|ALG5_ENST00000413537.2_Silent_p.K50K|ALG5_ENST00000443765.1_Silent_p.K50K	p.K50K	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)	2	216	-		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	50					B4DR37|Q5TBA6	Silent	SNP	ENST00000239891.3	37	c.150A>G	CCDS9361.1																																																																																				0.403	ALG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044528.2	NM_013338		23	35	0	0	0	1	0	23	35				
SLAMF6	114836	broad.mit.edu	37	1	160460471	160460471	+	Silent	SNP	A	A	G			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr1:160460471A>G	ENST00000368057.3	-	4	711	c.651T>C	c.(649-651)gtT>gtC	p.V217V	SLAMF6_ENST00000368055.1_Silent_p.V106V|SLAMF6_ENST00000368059.3_Silent_p.V217V			Q96DU3	SLAF6_HUMAN	SLAM family member 6	217						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			ATTGAATTTTAACATCTGAAA	0.393																																						ENST00000368059.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22						c.(649-651)gtT>gtC		SLAM family member 6							56.0	56.0	56.0					1																	160460471		2203	4300	6503	SO:0001819	synonymous_variant	114836					integral to membrane|plasma membrane	receptor activity	g.chr1:160460471A>G	AL832854	CCDS1205.1, CCDS53393.1, CCDS53394.1	1q23.1	2013-01-29			ENSG00000162739	ENSG00000162739		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21392	protein-coding gene	gene with protein product		606446				11489943	Standard	NM_052931		Approved	KALI, NTBA, KALIb, Ly108, SF2000, NTB-A, CD352	uc001fwe.2	Q96DU3	OTTHUMG00000022729	ENST00000368057.3:c.651T>C	1.37:g.160460471A>G						SLAMF6_ENST00000368055.1_Silent_p.V106V|SLAMF6_ENST00000368057.3_Silent_p.V217V	p.V217V	NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4	NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1	Q96DU3	SLAF6_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0923)		4	720	-	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		217					A6NMW2|B2R8X8|Q14CF0|Q5TAS4|Q5TAS6|Q5TAT3|Q96DV0	Silent	SNP	ENST00000368057.3	37	c.651T>C	CCDS53394.1																																																																																				0.393	SLAMF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059010.1	NM_052931		3	30	0	0	0	1	0	3	30				
FAM160B1	57700	broad.mit.edu	37	10	116606427	116606427	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr10:116606427A>G	ENST00000369248.4	+	11	1843	c.1508A>G	c.(1507-1509)tAt>tGt	p.Y503C	FAM160B1_ENST00000369250.3_Missense_Mutation_p.Y503C	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	503										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						TATACAGAATATAAACCTTTG	0.353																																						ENST00000369248.4																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						c.(1507-1509)tAt>tGt		family with sequence similarity 160, member B1							67.0	67.0	67.0					10																	116606427		2203	4299	6502	SO:0001583	missense	57700							g.chr10:116606427A>G	AB046820	CCDS31290.1, CCDS44480.1	10q26.11	2008-06-05	2008-06-05	2008-06-05	ENSG00000151553	ENSG00000151553			29320	protein-coding gene	gene with protein product			"""KIAA1600"""	KIAA1600		10997877	Standard	NM_020940		Approved	bA106M7.3	uc001lcb.3	Q5W0V3	OTTHUMG00000019092	ENST00000369248.4:c.1508A>G	10.37:g.116606427A>G	ENSP00000358251:p.Tyr503Cys					FAM160B1_ENST00000369250.3_Missense_Mutation_p.Y503C	p.Y503C	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN			11	1843	+			503					Q5H9P7|Q5W0V2|Q8IY76|Q9HCH2	Missense_Mutation	SNP	ENST00000369248.4	37	c.1508A>G	CCDS31290.1	.	.	.	.	.	.	.	.	.	.	A	10.50	1.368921	0.24771	.	.	ENSG00000151553	ENST00000369248;ENST00000369250	T;T	0.65364	-0.15;-0.15	5.83	4.7	0.59300	.	0.393396	0.27782	N	0.017861	T	0.49047	0.1534	N	0.22421	0.69	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.22591	-1.0212	10	0.38643	T	0.18	-8.1178	14.2289	0.65877	0.9364:0.0:0.0636:0.0	.	503;503	Q5W0V3-2;Q5W0V3	.;F16B1_HUMAN	C	503	ENSP00000358251:Y503C;ENSP00000358253:Y503C	ENSP00000358251:Y503C	Y	+	2	0	FAM160B1	116596417	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.958000	0.56737	0.469000	0.27268	-1.139000	0.01908	TAT		0.353	FAM160B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050499.1	XM_049351		13	41	0	0	0	1	0	13	41				
LRRCC1	85444	broad.mit.edu	37	8	86041489	86041489	+	Nonsense_Mutation	SNP	A	A	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr8:86041489A>T	ENST00000360375.3	+	10	1650	c.1501A>T	c.(1501-1503)Aaa>Taa	p.K501*	LRRCC1_ENST00000414626.2_Nonsense_Mutation_p.K481*	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	501					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.K482fs*2(1)|p.K502fs*2(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						AAATGAAATTAAAAAACTGAC	0.318																																						ENST00000414626.2																			2	Deletion - Frameshift(2)	p.K482fs*2(1)|p.K502fs*2(1)	large_intestine(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						c.(1441-1443)Aaa>Taa		leucine rich repeat and coiled-coil centrosomal protein 1							100.0	102.0	102.0					8																	86041489		1810	4073	5883	SO:0001587	stop_gained	85444				cell division|mitosis	centriole|nucleus		g.chr8:86041489A>T	BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"""centrosomal leucine-rich repeat and coiled-coil containing protein"", ""variable number of flagella 1 homolog (Chlamydomonas)"""		"""leucine rich repeat and coiled-coil domain containing 1"""			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.1501A>T	8.37:g.86041489A>T	ENSP00000353538:p.Lys501*					LRRCC1_ENST00000360375.3_Nonsense_Mutation_p.K501*	p.K481*			Q9C099	LRCC1_HUMAN			9	2330	+			501					B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Nonsense_Mutation	SNP	ENST00000360375.3	37	c.1441A>T	CCDS43750.1	.	.	.	.	.	.	.	.	.	.	A	38	6.883366	0.97908	.	.	ENSG00000133739	ENST00000360375;ENST00000414626	.	.	.	5.58	2.91	0.33838	.	0.000000	0.41938	D	0.000797	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-35.6262	0.3149	0.00294	0.383:0.2396:0.1474:0.23	.	.	.	.	X	501;481	.	ENSP00000353538:K501X	K	+	1	0	LRRCC1	86228741	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.620000	0.54203	1.026000	0.39733	0.528000	0.53228	AAA		0.318	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402		16	105	0	0	0	1	0	16	105				
ISL1	3670	broad.mit.edu	37	5	50685525	50685525	+	Missense_Mutation	SNP	A	A	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr5:50685525A>T	ENST00000230658.7	+	4	1109	c.524A>T	c.(523-525)cAc>cTc	p.H175L	ISL1_ENST00000505475.2_3'UTR|ISL1_ENST00000511384.1_Missense_Mutation_p.H175L	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	175					atrial septum morphogenesis (GO:0060413)|axon regeneration (GO:0031103)|cardiac cell fate determination (GO:0060913)|cardiac muscle cell myoblast differentiation (GO:0060379)|cardiac right ventricle morphogenesis (GO:0003215)|cellular response to glucocorticoid stimulus (GO:0071385)|endocardial cushion morphogenesis (GO:0003203)|innervation (GO:0060384)|mesenchymal cell differentiation (GO:0048762)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of inflammatory response (GO:0050728)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of protein homodimerization activity (GO:0090074)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate specification (GO:0048665)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|pancreas development (GO:0031016)|peripheral nervous system neuron axonogenesis (GO:0048936)|pharyngeal system development (GO:0060037)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 alpha production (GO:0032730)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage colony-stimulating factor production (GO:1901258)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|retinal ganglion cell axon guidance (GO:0031290)|secondary heart field specification (GO:0003139)|sensory system development (GO:0048880)|spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron differentiation (GO:0021522)|trigeminal nerve development (GO:0021559)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				CCCCACGTCCACAAGCAGCCG	0.716																																						ENST00000230658.7																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(523-525)cAc>cTc		ISL LIM homeobox 1							31.0	37.0	35.0					5																	50685525		2203	4300	6503	SO:0001583	missense	3670				generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:50685525A>T	BC031213	CCDS43314.1	5q11.2	2012-03-09	2007-07-13		ENSG00000016082	ENSG00000016082		"""Homeoboxes / LIM class"""	6132	protein-coding gene	gene with protein product		600366	"""ISL1 transcription factor, LIM/homeodomain, (islet-1)"""			7912209	Standard	NM_002202		Approved	Isl-1, ISLET1	uc003jor.3	P61371	OTTHUMG00000162281	ENST00000230658.7:c.524A>T	5.37:g.50685525A>T	ENSP00000230658:p.His175Leu					ISL1_ENST00000511384.1_Missense_Mutation_p.H175L|ISL1_ENST00000505475.2_3'UTR	p.H175L	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN			4	1109	+		Lung NSC(810;0.000845)|Breast(144;0.0411)	175					P20663|P47894	Missense_Mutation	SNP	ENST00000230658.7	37	c.524A>T	CCDS43314.1	.	.	.	.	.	.	.	.	.	.	A	18.98	3.736931	0.69304	.	.	ENSG00000016082	ENST00000230658;ENST00000503187;ENST00000511384	D;D	0.95238	-3.65;-3.65	6.02	6.02	0.97574	.	0.049950	0.85682	D	0.000000	D	0.91264	0.7246	L	0.43923	1.385	0.80722	D	1	B	0.14438	0.01	B	0.11329	0.006	D	0.87623	0.2511	10	0.15066	T	0.55	.	16.2228	0.82267	1.0:0.0:0.0:0.0	.	175	P61371	ISL1_HUMAN	L	175	ENSP00000230658:H175L;ENSP00000422676:H175L	ENSP00000230658:H175L	H	+	2	0	ISL1	50721282	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	8.848000	0.92172	2.299000	0.77371	0.528000	0.53228	CAC		0.716	ISL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368413.3	NM_002202		16	23	0	0	0	1	0	16	23				
LRIT2	340745	broad.mit.edu	37	10	85984841	85984841	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr10:85984841C>T	ENST00000372113.4	-	2	145	c.140G>A	c.(139-141)gGa>gAa	p.G47E	LRIT2_ENST00000538192.1_Missense_Mutation_p.G47E	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	47	LRRNT.					integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						AGGGATCTTTCCCAAGGAGAC	0.463																																						ENST00000372113.4																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						c.(139-141)gGa>gAa		leucine-rich repeat, immunoglobulin-like and transmembrane domains 2							60.0	65.0	63.0					10																	85984841		2156	4277	6433	SO:0001583	missense	340745					integral to membrane		g.chr10:85984841C>T		CCDS31234.1, CCDS60581.1	10q23.2	2013-01-11	2007-06-19	2007-06-19	ENSG00000204033	ENSG00000204033		"""Immunoglobulin superfamily / I-set domain containing"""	23443	protein-coding gene	gene with protein product			"""leucine rich repeat containing 22"""	LRRC22			Standard	NM_001017924		Approved	AC022389.4	uc001kcy.3	A6NDA9	OTTHUMG00000018633	ENST00000372113.4:c.140G>A	10.37:g.85984841C>T	ENSP00000361185:p.Gly47Glu					LRIT2_ENST00000538192.1_Missense_Mutation_p.G47E	p.G47E	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN			2	145	-			47			LRRNT.		B7ZME6	Missense_Mutation	SNP	ENST00000372113.4	37	c.140G>A	CCDS31234.1	.	.	.	.	.	.	.	.	.	.	C	4.097	0.015949	0.07959	.	.	ENSG00000204033	ENST00000372113;ENST00000538192	T;T	0.49720	0.77;0.77	5.98	3.02	0.34903	Leucine-rich repeat-containing N-terminal (1);	0.669254	0.15204	N	0.274846	T	0.36580	0.0972	M	0.63428	1.95	0.33450	D	0.583546	P;P	0.38922	0.651;0.651	B;B	0.35859	0.212;0.154	T	0.39683	-0.9602	10	0.10902	T	0.67	.	5.9894	0.19452	0.0:0.637:0.1425:0.2204	.	47;47	B7ZME6;A6NDA9	.;LRIT2_HUMAN	E	47	ENSP00000361185:G47E;ENSP00000438264:G47E	ENSP00000361185:G47E	G	-	2	0	LRIT2	85974821	0.048000	0.20356	0.713000	0.30519	0.187000	0.23431	0.294000	0.19047	1.550000	0.49438	-0.237000	0.12165	GGA		0.463	LRIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049110.4	XM_291697		12	81	0	0	0	1	0	12	81				
FNDC1	84624	broad.mit.edu	37	6	159654521	159654521	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr6:159654521C>A	ENST00000297267.9	+	11	3177	c.2977C>A	c.(2977-2979)Ccc>Acc	p.P993T	FNDC1_ENST00000340366.6_Missense_Mutation_p.P930T	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	993					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TCCCAGTGTTCCCAGAAGGAT	0.697																																						ENST00000297267.9																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(2977-2979)Ccc>Acc		fibronectin type III domain containing 1							25.0	31.0	29.0					6																	159654521		2187	4277	6464	SO:0001583	missense	84624					extracellular region		g.chr6:159654521C>A	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.2977C>A	6.37:g.159654521C>A	ENSP00000297267:p.Pro993Thr					FNDC1_ENST00000340366.6_Missense_Mutation_p.P930T	p.P993T	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	3177	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	993					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.2977C>A	CCDS47512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.88|17.88	3.496859|3.496859	0.64186|0.64186	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000297267;ENST00000340366|ENST00000329629	T;T|.	0.06849|.	3.25;4.02|.	4.98|4.98	4.1|4.1	0.47936|0.47936	.|.	0.890866|.	0.09829|.	N|.	0.750517|.	T|T	0.11580|0.11580	0.0282|0.0282	N|N	0.17082|0.17082	0.46|0.46	0.23834|0.23834	N|N	0.996711|0.996711	D;D|.	0.67145|.	0.996;0.975|.	P;P|.	0.62491|.	0.903;0.685|.	T|T	0.12993|0.12993	-1.0526|-1.0526	10|5	0.44086|.	T|.	0.13|.	-14.4875|-14.4875	9.6646|9.6646	0.39977|0.39977	0.0:0.9:0.0:0.1|0.0:0.9:0.0:0.1	.|.	930;993|.	Q4ZHG4-2;Q4ZHG4|.	.;FNDC1_HUMAN|.	T|Y	993;930|888	ENSP00000297267:P993T;ENSP00000342460:P930T|.	ENSP00000297267:P993T|.	P|S	+|+	1|2	0|0	FNDC1|FNDC1	159574511|159574511	0.014000|0.014000	0.17966|0.17966	0.114000|0.114000	0.21550|0.21550	0.904000|0.904000	0.53231|0.53231	0.807000|0.807000	0.27140|0.27140	2.310000|2.310000	0.77875|0.77875	0.555000|0.555000	0.69702|0.69702	CCC|TCC		0.697	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		6	24	1	0	0.00307968	1	0.00318121	6	24				
LMTK3	114783	broad.mit.edu	37	19	49001562	49001562	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr19:49001562G>A	ENST00000600059.1	-	11	2991	c.2764C>T	c.(2764-2766)Cca>Tca	p.P922S	LMTK3_ENST00000270238.3_Missense_Mutation_p.P951S			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	922	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CCGTTCACTGGGAGGCTCAGG	0.667																																						ENST00000600059.1																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16						c.(2764-2766)Cca>Tca		lemur tyrosine kinase 3							33.0	37.0	36.0					19																	49001562		1930	4130	6060	SO:0001583	missense	114783							g.chr19:49001562G>A	AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 101"""						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.2764C>T	19.37:g.49001562G>A	ENSP00000472020:p.Pro922Ser					LMTK3_ENST00000270238.3_Missense_Mutation_p.P951S	p.P922S						OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)	11	2991	-		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)						Q4G0U1	Missense_Mutation	SNP	ENST00000600059.1	37	c.2764C>T		.	.	.	.	.	.	.	.	.	.	G	5.161	0.215290	0.09810	.	.	ENSG00000142235	ENST00000270238	T	0.73681	-0.77	3.99	0.21	0.15231	.	0.498441	0.17746	N	0.163400	T	0.47911	0.1471	N	0.19112	0.55	0.09310	N	0.999994	B	0.12013	0.005	B	0.08055	0.003	T	0.19386	-1.0307	10	0.08179	T	0.78	.	3.1965	0.06635	0.2366:0.0:0.5568:0.2066	.	922	Q96Q04	LMTK3_HUMAN	S	951	ENSP00000270238:P951S	ENSP00000270238:P951S	P	-	1	0	LMTK3	53693374	0.988000	0.35896	0.095000	0.20976	0.008000	0.06430	3.070000	0.50033	0.302000	0.22762	-0.403000	0.06358	CCA		0.667	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1	NM_052895		18	33	0	0	0	1	0	18	33				
IL12A-AS1	101928376	broad.mit.edu	37	3	159819384	159819384	+	RNA	SNP	G	G	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr3:159819384G>A	ENST00000497452.1	-	0	517									IL12A antisense RNA 1																		TGGCTGACTTGCAGAAAACTC	0.488																																						ENST00000497452.1																			0																																																			101928376							g.chr3:159819384G>A	AK097161		3q25.33	2013-09-02			ENSG00000244040	ENSG00000244040		"""Long non-coding RNAs"""	49094	non-coding RNA	RNA, long non-coding							Standard	NR_108088		Approved				OTTHUMG00000158951		3.37:g.159819384G>A														0	517	-									RNA	SNP	ENST00000497452.1	37																																																																																						0.488	IL12A-AS1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000352647.1			24	109	0	0	0	1	0	24	109				
RARA	5914	broad.mit.edu	37	17	38510721	38510721	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr17:38510721G>C	ENST00000254066.5	+	7	1430	c.975G>C	c.(973-975)gaG>gaC	p.E325D	RARA_ENST00000394081.3_Missense_Mutation_p.E320D|RARA_ENST00000394086.3_Missense_Mutation_p.E341D|RARA_ENST00000425707.3_Missense_Mutation_p.E228D|RARA_ENST00000420042.1_3'UTR|RARA_ENST00000394089.2_Missense_Mutation_p.E325D	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	325	Ligand-binding.				apoptotic cell clearance (GO:0043277)|cellular response to estrogen stimulus (GO:0071391)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|chondroblast differentiation (GO:0060591)|embryonic camera-type eye development (GO:0031076)|face development (GO:0060324)|female pregnancy (GO:0007565)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|intracellular estrogen receptor signaling pathway (GO:0030520)|limb development (GO:0060173)|liver development (GO:0001889)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translational initiation (GO:0045947)|negative regulation of tumor necrosis factor production (GO:0032720)|neural tube closure (GO:0001843)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of binding (GO:0051099)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein phosphorylation (GO:0006468)|regulation of myelination (GO:0031641)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|retinoic acid receptor signaling pathway (GO:0048384)|Sertoli cell fate commitment (GO:0060010)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chromatin DNA binding (GO:0031490)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|mRNA 5'-UTR binding (GO:0048027)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein kinase A binding (GO:0051018)|protein kinase B binding (GO:0043422)|receptor binding (GO:0005102)|retinoic acid binding (GO:0001972)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|translation repressor activity, nucleic acid binding (GO:0000900)|zinc ion binding (GO:0008270)			breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	ATGATGCGGAGACGGGGCTGC	0.677			T	"""PML, ZNF145, TIF1, NUMA1, NPM1"""	APL																																	ENST00000254066.5				Dom	yes		17	17q12	5914	T	"""retinoic acid receptor, alpha"""			L	"""PML, ZNF145, TIF1, NUMA1, NPM1"""		APL		0				breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16						c.(973-975)gaG>gaC		retinoic acid receptor, alpha	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)						55.0	55.0	55.0					17																	38510721		2203	4300	6503	SO:0001583	missense	5914				apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr17:38510721G>C	X06538	CCDS11366.1, CCDS42317.1, CCDS45671.1	17q21.1	2014-01-20			ENSG00000131759	ENSG00000131759		"""Nuclear hormone receptors"""	9864	protein-coding gene	gene with protein product		180240				2825036, 8244378	Standard	NM_001145301		Approved	RAR, NR1B1	uc002huk.2	P10276	OTTHUMG00000133328	ENST00000254066.5:c.975G>C	17.37:g.38510721G>C	ENSP00000254066:p.Glu325Asp					RARA_ENST00000394086.3_Missense_Mutation_p.E341D|RARA_ENST00000394089.2_Missense_Mutation_p.E325D|RARA_ENST00000425707.3_Missense_Mutation_p.E228D|RARA_ENST00000394081.3_Missense_Mutation_p.E320D|RARA_ENST00000420042.1_3'UTR	p.E325D	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	STAD - Stomach adenocarcinoma(5;0.00143)		7	1430	+		Breast(137;0.00328)	325			Ligand-binding.		B8Y636|P78456|Q13440|Q13441|Q96S41|Q9NQS0	Missense_Mutation	SNP	ENST00000254066.5	37	c.975G>C	CCDS11366.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.781455	0.90282	.	.	ENSG00000131759	ENST00000254066;ENST00000425707;ENST00000394089;ENST00000394086;ENST00000394081;ENST00000319149;ENST00000420042	D;D;D;D;D	0.99298	-5.71;-5.71;-5.71;-5.71;-5.71	4.92	3.95	0.45737	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.99058	0.9677	M	0.78285	2.405	0.53688	D	0.999973	P;P;P	0.52577	0.946;0.908;0.954	P;P;P	0.60345	0.724;0.873;0.782	D	0.99457	1.0942	10	0.87932	D	0	.	9.2451	0.37520	0.1738:0.0:0.8262:0.0	.	228;320;325	B8Y636;F1D8N9;P10276	.;.;RARA_HUMAN	D	325;228;325;341;320;318;212	ENSP00000254066:E325D;ENSP00000389993:E228D;ENSP00000377649:E325D;ENSP00000377648:E341D;ENSP00000377643:E320D	ENSP00000254066:E325D	E	+	3	2	RARA	35764247	1.000000	0.71417	0.989000	0.46669	0.821000	0.46438	0.924000	0.28777	1.290000	0.44636	0.585000	0.79938	GAG		0.677	RARA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257136.2			20	48	0	0	0	1	0	20	48				
TMC6	11322	broad.mit.edu	37	17	76120647	76120647	+	Silent	SNP	G	G	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr17:76120647G>A	ENST00000590602.1	-	8	1008	c.849C>T	c.(847-849)ggC>ggT	p.G283G	TMC6_ENST00000322933.4_5'UTR|TMC6_ENST00000591436.1_5'Flank|TMC6_ENST00000306591.7_Silent_p.G283G|TMC6_ENST00000592076.1_5'Flank|TMC6_ENST00000322914.3_Silent_p.G283G|TMC6_ENST00000392467.3_Silent_p.G283G|TMC6_ENST00000589553.1_Silent_p.G56G			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	283					ion transport (GO:0006811)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CGGGGGCAGGGCCCGGCAGGG	0.667																																						ENST00000590602.1																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14						c.(847-849)ggC>ggT		transmembrane channel-like 6							13.0	17.0	15.0					17																	76120647		2171	4220	6391	SO:0001819	synonymous_variant	11322					endoplasmic reticulum membrane|integral to membrane		g.chr17:76120647G>A	AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"""epidermodysplasia verruciformis 1"""	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.849C>T	17.37:g.76120647G>A						TMC6_ENST00000392467.3_Silent_p.G283G|TMC6_ENST00000322933.4_5'UTR|TMC6_ENST00000306591.7_Silent_p.G283G|TMC6_ENST00000589553.1_Silent_p.G56G|TMC6_ENST00000322914.3_Silent_p.G283G	p.G283G			Q7Z403	TMC6_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		8	1008	-			283					O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Silent	SNP	ENST00000590602.1	37	c.849C>T	CCDS32748.1																																																																																				0.667	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437146.1			11	36	0	0	0	1	0	11	36				
SRRM1	10250	broad.mit.edu	37	1	24993374	24993374	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr1:24993374C>A	ENST00000323848.9	+	13	2012	c.1697C>A	c.(1696-1698)cCt>cAt	p.P566H	SRRM1_ENST00000374389.4_Missense_Mutation_p.P575H|SRRM1_ENST00000537199.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.P578H|snoU13_ENST00000459464.1_RNA|SRRM1_ENST00000479034.1_3'UTR	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	566	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.P566H(2)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CCCGCCCCTCCTCCTCGACGG	0.542																																					Ovarian(68;897 1494 3282 17478)	ENST00000323848.9																			2	Substitution - Missense(2)	p.P566H(2)	urinary_tract(1)|central_nervous_system(1)	breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36						c.(1696-1698)cCt>cAt		serine/arginine repetitive matrix 1							53.0	45.0	48.0					1																	24993374		2203	4300	6503	SO:0001583	missense	10250				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding	g.chr1:24993374C>A	AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"""Ser/Arg-related nuclear matrix protein"", ""plenty of prolines 101-like"""	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.1697C>A	1.37:g.24993374C>A	ENSP00000326261:p.Pro566His					SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.P578H|SRRM1_ENST00000374389.4_Missense_Mutation_p.P575H|SRRM1_ENST00000537199.1_3'UTR	p.P566H	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)	13	2012	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	566			Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.		O60585|Q5VVN4	Missense_Mutation	SNP	ENST00000323848.9	37	c.1697C>A	CCDS255.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.173271	0.78452	.	.	ENSG00000133226	ENST00000323848;ENST00000447431;ENST00000374389	T;T;T	0.56776	0.44;0.65;0.71	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000007	T	0.70613	0.3244	L	0.58101	1.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.68074	-0.5505	10	0.42905	T	0.14	-3.0627	19.3453	0.94361	0.0:1.0:0.0:0.0	.	578;566	E9PCT1;Q8IYB3	.;SRRM1_HUMAN	H	566;578;575	ENSP00000326261:P566H;ENSP00000391430:P578H;ENSP00000363510:P575H	ENSP00000326261:P566H	P	+	2	0	SRRM1	24865961	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	4.865000	0.62998	2.654000	0.90174	0.650000	0.86243	CCT		0.542	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009292.2	NM_005839		4	47	1	0	1	1	1	4	47				
LRRK1	79705	broad.mit.edu	37	15	101569183	101569183	+	Silent	SNP	C	C	T	rs370260141		TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr15:101569183C>T	ENST00000388948.3	+	20	3068	c.2709C>T	c.(2707-2709)acC>acT	p.T903T	LRRK1_ENST00000284395.5_Silent_p.T900T	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TCATAGAAACCGGCACCCTGC	0.557																																						ENST00000284395.5																			0				breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(2698-2700)acC>acT		leucine-rich repeat kinase 1		C		0,3906		0,0,1953	93.0	102.0	99.0		2709	-10.2	0.0	15		99	1,8291		0,1,4145	no	coding-synonymous	LRRK1	NM_024652.3		0,1,6098	TT,TC,CC		0.0121,0.0,0.0082		903/2016	101569183	1,12197	1953	4146	6099	SO:0001819	synonymous_variant	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101569183C>T	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.2709C>T	15.37:g.101569183C>T						LRRK1_ENST00000388948.3_Silent_p.T903T	p.T900T			Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		21	3100	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		903						Silent	SNP	ENST00000388948.3	37	c.2700C>T	CCDS42086.1																																																																																				0.557	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		24	105	0	0	0	1	0	24	105				
RANBP2	5903	broad.mit.edu	37	2	109380846	109380846	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr2:109380846G>A	ENST00000283195.6	+	20	3977	c.3851G>A	c.(3850-3852)aGg>aAg	p.R1284K		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1284	RanBD1 1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CTTGCTATTAGGTTCAAAACT	0.408																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(3850-3852)aGg>aAg		RAN binding protein 2							70.0	73.0	72.0					2																	109380846		2203	4297	6500	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109380846G>A	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.3851G>A	2.37:g.109380846G>A	ENSP00000283195:p.Arg1284Lys						p.R1284K	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			20	3977	+			1284			RanBD1 1.		Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.3851G>A	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	10.14	1.269542	0.23221	.	.	ENSG00000153201	ENST00000283195	T	0.41400	1.0	5.26	3.1	0.35709	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.38295	0.1035	L	0.54323	1.7	0.28760	N	0.900964	B	0.17852	0.024	B	0.18561	0.022	T	0.28490	-1.0042	9	0.27082	T	0.32	-19.563	12.3756	0.55279	0.1616:0.0:0.8384:0.0	.	1284	P49792	RBP2_HUMAN	K	1284	ENSP00000283195:R1284K	ENSP00000283195:R1284K	R	+	2	0	RANBP2	108747278	1.000000	0.71417	0.995000	0.50966	0.980000	0.70556	5.788000	0.69020	1.196000	0.43129	0.650000	0.86243	AGG		0.408	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		14	95	0	0	0	1	0	14	95				
ADAM20	8748	broad.mit.edu	37	14	70989921	70989921	+	Silent	SNP	A	A	G			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr14:70989921A>G	ENST00000256389.3	-	2	1948	c.1704T>C	c.(1702-1704)atT>atC	p.I568I	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	518	Cys-rich.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		CTTGGCCAAAAATCTCTTTAC	0.433																																						ENST00000256389.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27						c.(1702-1704)atT>atC		ADAM metallopeptidase domain 20							202.0	151.0	169.0					14																	70989921		2203	4300	6503	SO:0001819	synonymous_variant	8748				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70989921A>G	AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"""ADAM metallopeptidase domain containing"""	199	protein-coding gene	gene with protein product		603712	"""a disintegrin and metalloproteinase domain 20"""			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.1704T>C	14.37:g.70989921A>G						RP11-486O13.4_ENST00000556646.1_lincRNA	p.I568I	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)	2	1948	-			518			Cys-rich.		Q6GTZ1|Q9UKJ9	Silent	SNP	ENST00000256389.3	37	c.1704T>C	CCDS32111.1																																																																																				0.433	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2			27	99	0	0	0	1	0	27	99				
TLR10	81793	broad.mit.edu	37	4	38775082	38775082	+	Silent	SNP	G	G	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr4:38775082G>A	ENST00000308973.4	-	4	2735	c.2130C>T	c.(2128-2130)ttC>ttT	p.F710F	TLR10_ENST00000361424.2_Silent_p.F710F|TLR10_ENST00000508334.1_Silent_p.F710F|TLR10_ENST00000507953.1_5'Flank|TLR10_ENST00000506111.1_Silent_p.F710F	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	710	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of inflammatory response (GO:0050729)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						GGGCAAAGTAGAATTCATAAT	0.363																																						ENST00000308973.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						c.(2128-2130)ttC>ttT		toll-like receptor 10							113.0	117.0	115.0					4																	38775082		2203	4300	6503	SO:0001819	synonymous_variant	81793				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity	g.chr4:38775082G>A	AF296673	CCDS3445.1	4p14	2009-11-23			ENSG00000174123	ENSG00000174123		"""CD molecules"""	15634	protein-coding gene	gene with protein product		606270				11267672	Standard	NM_030956		Approved	CD290	uc003gtk.3	Q9BXR5	OTTHUMG00000128578	ENST00000308973.4:c.2130C>T	4.37:g.38775082G>A						TLR10_ENST00000361424.2_Silent_p.F710F|TLR10_ENST00000506111.1_Silent_p.F710F|TLR10_ENST00000508334.1_Silent_p.F710F	p.F710F	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN			4	2735	-			710			TIR.		A8K7L1|B3Y668|D1CS21|D1CS22|Q32MI7|Q32MI8|Q5FWG4|Q6UXL3	Silent	SNP	ENST00000308973.4	37	c.2130C>T	CCDS3445.1																																																																																				0.363	TLR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250430.1			12	116	0	0	0	1	0	12	116				
KRTAP4-11	653240	broad.mit.edu	37	17	39274291	39274291	+	Missense_Mutation	SNP	T	T	C	rs200214744|rs565505867	byFrequency	TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr17:39274291T>C	ENST00000391413.2	-	1	315	c.277A>G	c.(277-279)Atg>Gtg	p.M93V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	93	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.M93V(4)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGCAGCACATAGACTGGCAG	0.662																																						ENST00000391413.2																			4	Substitution - Missense(4)	p.M93V(4)	endometrium(3)|kidney(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(277-279)Atg>Gtg		keratin associated protein 4-11							6.0	10.0	8.0					17																	39274291		651	1556	2207	SO:0001583	missense	653240					keratin filament		g.chr17:39274291T>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.277A>G	17.37:g.39274291T>C	ENSP00000375232:p.Met93Val						p.M93V	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	315	-		Breast(137;0.000496)	93			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.277A>G	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	0.073	-1.199029	0.01581	.	.	ENSG00000212721	ENST00000391413	T	0.00580	6.43	4.25	-4.9	0.03094	.	.	.	.	.	T	0.00109	0.0003	N	0.00040	-2.49	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43097	-0.9412	9	0.02654	T	1	.	0.4739	0.00536	0.3479:0.2455:0.1203:0.2863	.	93	Q9BYQ6	KR411_HUMAN	V	93	ENSP00000375232:M93V	ENSP00000375232:M93V	M	-	1	0	KRTAP4-11	36527817	.	.	0.012000	0.15200	0.010000	0.07245	.	.	-1.319000	0.02286	-1.132000	0.01976	ATG		0.662	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			3	29	0	0	0	1	0	3	29				
BTN2A3P	54718	broad.mit.edu	37	6	26431129	26431129	+	RNA	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr6:26431129C>T	ENST00000466808.2	+	0	1447							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)											AGGAGAGCTTCGCCTCAGGGA	0.517																																						ENST00000466808.2																			0																				149.0	148.0	148.0					6																	26431129		2203	4300	6503			54718							g.chr6:26431129C>T	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26431129C>T														0	1447	+								A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.517	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		44	94	0	0	0	1	0	44	94				
RBCK1	10616	broad.mit.edu	37	20	398389	398389	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr20:398389A>G	ENST00000356286.5	+	4	980	c.275A>G	c.(274-276)tAt>tGt	p.Y92C	RBCK1_ENST00000382181.2_5'UTR|RBCK1_ENST00000353660.3_Missense_Mutation_p.Y50C	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1	92	Interaction with IRF3.|Interaction with RNF31.|Interaction with TAB2.|Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				negative regulation of necroptotic process (GO:0060546)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				TTTCTGGACTATGGCTTCCCA	0.612																																						ENST00000356286.5																			0				kidney(1)|lung(4)	5						c.(274-276)tAt>tGt		RanBP-type and C3HC4-type zinc finger containing 1							48.0	38.0	41.0					20																	398389		2203	4300	6503	SO:0001583	missense	10616				interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr20:398389A>G	U67322	CCDS12998.1, CCDS13000.2	20p13	2014-09-17	2006-06-28	2006-06-28	ENSG00000125826	ENSG00000125826		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, RAN-binding domain containing"""	15864	protein-coding gene	gene with protein product	"""heme-oxidized IRP2 ubiquitin ligase 1"""	610924	"""chromosome 20 open reading frame 18"""	C20orf18			Standard	NM_031229		Approved	RBCK2, XAP4, RNF54, ZRANB4, UBCE7IP3, HOIL1	uc002wdp.4	Q9BYM8	OTTHUMG00000031634	ENST00000356286.5:c.275A>G	20.37:g.398389A>G	ENSP00000348632:p.Tyr92Cys					RBCK1_ENST00000382181.2_5'UTR|RBCK1_ENST00000353660.3_Missense_Mutation_p.Y50C	p.Y92C	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN			4	980	+		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)	92			Interaction with IRF3.|Interaction with RNF31.|Interaction with TAB2.|Ubiquitin-like.		O95623|Q86SL2|Q96BS3|Q9BYM9	Missense_Mutation	SNP	ENST00000356286.5	37	c.275A>G	CCDS13000.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.75|16.75	3.208431|3.208431	0.58343|0.58343	.|.	.|.	ENSG00000125826|ENSG00000125826	ENST00000414880|ENST00000411647;ENST00000356286;ENST00000441733;ENST00000353660;ENST00000400244;ENST00000400243	.|T;T;T;T	.|0.11821	.|2.74;2.74;2.74;2.74	4.77|4.77	4.77|4.77	0.60923|0.60923	.|Ubiquitin supergroup (1);	.|0.070272	.|0.64402	.|D	.|0.000018	T|T	0.34483|0.34483	0.0899|0.0899	M|M	0.72118|0.72118	2.19|2.19	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.999;1.0;0.998	.|D;D;P	.|0.70716	.|0.97;0.961;0.87	T|T	0.08953|0.08953	-1.0697|-1.0697	5|10	.|0.87932	.|D	.|0	-4.5832|-4.5832	12.5534|12.5534	0.56240|0.56240	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|82;50;92	.|B4E0F5;Q9BYM8-3;Q9BYM8	.|.;.;HOIL1_HUMAN	V|C	125|92;92;91;50;92;133	.|ENSP00000415080:Y92C;ENSP00000348632:Y92C;ENSP00000387799:Y91C;ENSP00000254960:Y50C	.|ENSP00000254960:Y50C	M|Y	+|+	1|2	0|0	RBCK1|RBCK1	346389|346389	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.801000|0.801000	0.45260|0.45260	3.225000|3.225000	0.51246|0.51246	2.131000|2.131000	0.65755|0.65755	0.374000|0.374000	0.22700|0.22700	ATG|TAT		0.612	RBCK1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077461.3	NM_031229		9	37	0	0	0	1	0	9	37				
AHNAK	79026	broad.mit.edu	37	11	62285071	62285071	+	Silent	SNP	G	G	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr11:62285071G>A	ENST00000378024.4	-	5	17092	c.16818C>T	c.(16816-16818)ctC>ctT	p.L5606L	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000525875.1_5'Flank	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5606	Gly-rich.				protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGTCCAAGTTGAGAGCAGAGG	0.557																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(16816-16818)ctC>ctT		AHNAK nucleoprotein							124.0	140.0	135.0					11																	62285071		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62285071G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.16818C>T	11.37:g.62285071G>A						AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.L5606L	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	17092	-		Melanoma(852;0.155)	5606			Gly-rich.		A1A586	Silent	SNP	ENST00000378024.4	37	c.16818C>T	CCDS31584.1																																																																																				0.557	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		63	126	0	0	0	1	0	63	126				
CCDC82	79780	broad.mit.edu	37	11	96092212	96092212	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr11:96092212T>A	ENST00000278520.5	-	8	1939	c.1511A>T	c.(1510-1512)aAa>aTa	p.K504I	CCDC82_ENST00000542662.1_Missense_Mutation_p.K504I|CCDC82_ENST00000423339.2_Missense_Mutation_p.K504I			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	504										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		CACTGTTTCTTTAACTTGTTC	0.343																																						ENST00000278520.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19						c.(1510-1512)aAa>aTa		coiled-coil domain containing 82							185.0	181.0	182.0					11																	96092212		2200	4297	6497	SO:0001583	missense	79780						protein binding	g.chr11:96092212T>A	AF245436	CCDS8307.1	11q21	2006-03-09			ENSG00000149231	ENSG00000149231			26282	protein-coding gene	gene with protein product						12477932	Standard	NM_024725		Approved	FLJ23518	uc001pfx.4	Q8N4S0	OTTHUMG00000167678	ENST00000278520.5:c.1511A>T	11.37:g.96092212T>A	ENSP00000278520:p.Lys504Ile					CCDC82_ENST00000423339.2_Missense_Mutation_p.K504I|CCDC82_ENST00000542662.1_Missense_Mutation_p.K504I	p.K504I			Q8N4S0	CCD82_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.154)	8	1939	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	504					B3KPU7|Q8WV71|Q9H2Q5|Q9H5E3	Missense_Mutation	SNP	ENST00000278520.5	37	c.1511A>T	CCDS8307.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.281002	0.80692	.	.	ENSG00000149231	ENST00000278520;ENST00000542662;ENST00000423339	T;T;T	0.38240	1.15;1.15;1.15	5.78	4.62	0.57501	.	0.168599	0.50627	D	0.000120	T	0.51669	0.1688	M	0.71581	2.175	0.47698	D	0.999491	D	0.62365	0.991	P	0.55871	0.786	T	0.55829	-0.8079	10	0.72032	D	0.01	-17.2854	12.368	0.55240	0.0:0.0:0.1411:0.8589	.	504	Q8N4S0	CCD82_HUMAN	I	504	ENSP00000278520:K504I;ENSP00000444010:K504I;ENSP00000397156:K504I	ENSP00000278520:K504I	K	-	2	0	CCDC82	95731860	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.467000	0.53078	1.084000	0.41184	0.533000	0.62120	AAA		0.343	CCDC82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395542.2	NM_024725		5	53	0	0	0	1	0	5	53				
ADAM22	53616	broad.mit.edu	37	7	87792473	87792473	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr7:87792473G>T	ENST00000265727.7	+	23	2133	c.2054G>T	c.(2053-2055)gGc>gTc	p.G685V	ADAM22_ENST00000398209.3_Missense_Mutation_p.G685V|ADAM22_ENST00000398201.4_Missense_Mutation_p.G685V|ADAM22_ENST00000315984.7_Missense_Mutation_p.G685V|ADAM22_ENST00000398204.4_Missense_Mutation_p.G685V			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	685	EGF-like.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			AGTAAAGAAGGCACTATTTGC	0.393																																						ENST00000398204.4																			0				endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53						c.(2053-2055)gGc>gTc		ADAM metallopeptidase domain 22							101.0	91.0	94.0					7																	87792473		1845	4085	5930	SO:0001583	missense	53616				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding	g.chr7:87792473G>T	AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"""ADAM metallopeptidase domain containing"""	201	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"""	603709	"""a disintegrin and metalloproteinase domain 22"""			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.2054G>T	7.37:g.87792473G>T	ENSP00000265727:p.Gly685Val					ADAM22_ENST00000265727.7_Missense_Mutation_p.G685V|ADAM22_ENST00000315984.7_Missense_Mutation_p.G685V|ADAM22_ENST00000398209.3_Missense_Mutation_p.G685V|ADAM22_ENST00000398201.4_Missense_Mutation_p.G685V	p.G685V	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		23	2377	+	Esophageal squamous(14;0.00202)		685			EGF-like.		O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Missense_Mutation	SNP	ENST00000265727.7	37	c.2054G>T	CCDS47637.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.637818	0.47049	.	.	ENSG00000008277	ENST00000398204;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203;ENST00000426930	T;T;T;T;T;T;T	0.58797	4.47;4.48;4.48;4.49;4.49;4.48;0.31	5.93	4.95	0.65309	Epidermal growth factor-like (1);	0.355574	0.32314	N	0.006271	T	0.60495	0.2273	L	0.57536	1.79	0.50467	D	0.999875	P;P;P;B	0.48694	0.914;0.911;0.856;0.406	P;P;P;B	0.50049	0.629;0.611;0.508;0.26	T	0.63449	-0.6635	10	0.72032	D	0.01	.	9.5875	0.39526	0.1256:0.0:0.8744:0.0	.	737;685;685;685	E9PBH5;Q9P0K1-5;Q9P0K1;Q9P0K1-2	.;.;ADA22_HUMAN;.	V	685;685;685;685;685;652;43	ENSP00000381262:G685V;ENSP00000381260:G685V;ENSP00000265727:G685V;ENSP00000315900:G685V;ENSP00000381267:G685V;ENSP00000381261:G652V;ENSP00000396233:G43V	ENSP00000265727:G685V	G	+	2	0	ADAM22	87630409	0.572000	0.26668	1.000000	0.80357	0.997000	0.91878	0.924000	0.28777	2.799000	0.96334	0.650000	0.86243	GGC		0.393	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2	NM_021723		6	35	1	0	0.0293803	1	0.0296963	6	35				
BRINP1	1620	broad.mit.edu	37	9	121930221	121930221	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr9:121930221C>T	ENST00000265922.3	-	8	1888	c.1427G>A	c.(1426-1428)aGc>aAc	p.S476N	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	476					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											AGTCTCAAAGCTGATGAACTG	0.567																																						ENST00000265922.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(1426-1428)aGc>aAc									196.0	151.0	166.0					9																	121930221		2203	4300	6503	SO:0001583	missense	1620				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:121930221C>T	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1427G>A	9.37:g.121930221C>T	ENSP00000265922:p.Ser476Asn					DBC1_ENST00000482797.1_Intron	p.S476N	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN			8	1888	-			476					Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	ENST00000265922.3	37	c.1427G>A	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.657747	0.67586	.	.	ENSG00000078725	ENST00000373969;ENST00000265922	T	0.54675	0.56	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.59115	0.2170	N	0.19112	0.55	0.80722	D	1	D	0.57899	0.981	D	0.65140	0.932	T	0.59144	-0.7509	10	0.39692	T	0.17	-29.0392	19.5083	0.95130	0.0:1.0:0.0:0.0	.	476	O60477	DBC1_HUMAN	N	476	ENSP00000265922:S476N	ENSP00000265922:S476N	S	-	2	0	DBC1	120970042	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.743000	0.85020	2.600000	0.87896	0.655000	0.94253	AGC		0.567	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		11	72	0	0	0	1	0	11	72				
TMEM61	199964	broad.mit.edu	37	1	55457641	55457641	+	Silent	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr1:55457641C>T	ENST00000371268.3	+	3	772	c.498C>T	c.(496-498)ctC>ctT	p.L166L	RP11-12C17.2_ENST00000436960.1_RNA	NM_182532.1	NP_872338.1	Q8N0U2	TMM61_HUMAN	transmembrane protein 61	166						integral component of membrane (GO:0016021)				endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	4						ATGCCCTGCTCAGCACCCAGC	0.642																																						ENST00000371268.3																			0				endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	4						c.(496-498)ctC>ctT		transmembrane protein 61							101.0	89.0	93.0					1																	55457641		2203	4300	6503	SO:0001819	synonymous_variant	199964					integral to membrane		g.chr1:55457641C>T	BC029775	CCDS601.1	1p32.3	2008-02-05			ENSG00000143001	ENSG00000143001			27296	protein-coding gene	gene with protein product						12477932	Standard	NM_182532		Approved		uc001cyd.3	Q8N0U2	OTTHUMG00000009991	ENST00000371268.3:c.498C>T	1.37:g.55457641C>T						RP11-12C17.2_ENST00000436960.1_RNA	p.L166L	NM_182532.1	NP_872338.1	Q8N0U2	TMM61_HUMAN			3	772	+			166						Silent	SNP	ENST00000371268.3	37	c.498C>T	CCDS601.1																																																																																				0.642	TMEM61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027683.1	NM_182532		12	112	0	0	0	1	0	12	112				
KIAA0922	23240	broad.mit.edu	37	4	154478124	154478124	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr4:154478124C>G	ENST00000409663.3	+	6	491	c.439C>G	c.(439-441)Cca>Gca	p.P147A	KIAA0922_ENST00000440693.1_Missense_Mutation_p.P147A|KIAA0922_ENST00000409959.3_Missense_Mutation_p.P147A	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	147						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				TCAGGTAATTCCAGCAATGGG	0.378																																						ENST00000409663.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(439-441)Cca>Gca		KIAA0922							61.0	65.0	63.0					4																	154478124		2203	4300	6503	SO:0001583	missense	23240					integral to membrane		g.chr4:154478124C>G	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.439C>G	4.37:g.154478124C>G	ENSP00000386574:p.Pro147Ala					KIAA0922_ENST00000409959.3_Missense_Mutation_p.P147A|KIAA0922_ENST00000440693.1_Missense_Mutation_p.P147A	p.P147A	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN			6	491	+	all_hematologic(180;0.093)	Renal(120;0.118)	147					B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	37	c.439C>G	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327901	0.81690	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.37584	2.28;2.03;2.28;1.19	5.64	5.64	0.86602	.	.	.	.	.	T	0.58509	0.2127	M	0.64404	1.975	0.45261	D	0.998267	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.48328	-0.9045	9	0.23302	T	0.38	.	19.7025	0.96060	0.0:1.0:0.0:0.0	.	147;147	A2VDJ0-5;A2VDJ0	.;T131L_HUMAN	A	147;147;147;8	ENSP00000386574:P147A;ENSP00000409663:P147A;ENSP00000386787:P147A;ENSP00000240487:P8A	ENSP00000240487:P8A	P	+	1	0	KIAA0922	154697574	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.650000	0.67944	2.674000	0.91012	0.650000	0.86243	CCA		0.378	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196		23	36	0	0	0	1	0	23	36				
OTOGL	283310	broad.mit.edu	37	12	80749709	80749709	+	Silent	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr12:80749709C>T	ENST00000547103.1	+	46	5730	c.5724C>T	c.(5722-5724)tgC>tgT	p.C1908C	OTOGL_ENST00000458043.2_Silent_p.C1920C|OTOGL_ENST00000546620.1_5'Flank			Q3ZCN5	OTOGL_HUMAN	otogelin-like	1908	Cys-rich.				L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						AATGGACCTGCTGTTCAAAGG	0.388																																						ENST00000458043.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						c.(5758-5760)tgC>tgT		otogelin-like							230.0	214.0	219.0					12																	80749709		1903	4134	6037	SO:0001819	synonymous_variant	283310							g.chr12:80749709C>T	AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.5724C>T	12.37:g.80749709C>T						OTOGL_ENST00000547103.1_Silent_p.C1908C	p.C1920C	NM_173591.3	NP_775862.3					46	5766	+								F8W0C3|Q495U8|Q8N8G5|Q8NC28	Silent	SNP	ENST00000547103.1	37	c.5760C>T		.	.	.	.	.	.	.	.	.	.	C	7.775	0.708351	0.15239	.	.	ENSG00000165899	ENST00000298820	.	.	.	5.18	3.28	0.37604	.	.	.	.	.	T	0.61286	0.2335	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56226	-0.8014	4	.	.	.	.	10.7898	0.46426	0.0:0.8559:0.0:0.1441	.	.	.	.	V	363	.	.	A	+	2	0	OTOGL	79273840	0.999000	0.42202	1.000000	0.80357	0.857000	0.48899	0.721000	0.25911	0.520000	0.28426	0.591000	0.81541	GCT		0.388	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591		36	101	0	0	0	1	0	36	101				
ETFDH	2110	broad.mit.edu	37	4	159627834	159627834	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr4:159627834C>G	ENST00000511912.1	+	12	1854	c.1522C>G	c.(1522-1524)Cca>Gca	p.P508A	ETFDH_ENST00000307738.5_Missense_Mutation_p.P461A	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	508					cellular metabolic process (GO:0044237)|electron transport chain (GO:0022900)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, oxidizing metal ions with flavin as acceptor (GO:0043783)|quinone binding (GO:0048038)|ubiquinone binding (GO:0048039)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		TATTGAGTATCCAAAACCCGA	0.428																																						ENST00000511912.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28						c.(1522-1524)Cca>Gca		electron-transferring-flavoprotein dehydrogenase							197.0	187.0	190.0					4																	159627834		2203	4300	6503	SO:0001583	missense	2110				fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding	g.chr4:159627834C>G	S69232	CCDS3800.1, CCDS64090.1	4q32-q35	2008-08-26			ENSG00000171503	ENSG00000171503			3483	protein-coding gene	gene with protein product		231675					Standard	NM_004453		Approved	ETFQO	uc003iqb.3	Q16134	OTTHUMG00000161684	ENST00000511912.1:c.1522C>G	4.37:g.159627834C>G	ENSP00000426638:p.Pro508Ala					ETFDH_ENST00000307738.5_Missense_Mutation_p.P461A	p.P508A	NM_004453.2	NP_004444.2	Q16134	ETFD_HUMAN		COAD - Colon adenocarcinoma(41;0.0172)	12	1854	+	all_hematologic(180;0.24)	Renal(120;0.0458)	508					B4E3R9|J3KND9|Q7Z347	Missense_Mutation	SNP	ENST00000511912.1	37	c.1522C>G	CCDS3800.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.425026	0.83667	.	.	ENSG00000171503	ENST00000511912;ENST00000307738	D;D	0.94793	-3.52;-3.52	5.75	4.89	0.63831	.	0.000000	0.85682	D	0.000000	D	0.97579	0.9207	M	0.89414	3.03	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.98272	1.0504	10	0.72032	D	0.01	-13.9176	16.011	0.80404	0.1358:0.8642:0.0:0.0	.	461;447;508	B4E3R9;B4DEQ0;Q16134	.;.;ETFD_HUMAN	A	508;461	ENSP00000426638:P508A;ENSP00000303552:P461A	ENSP00000303552:P461A	P	+	1	0	ETFDH	159847284	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	1.386000	0.46466	0.591000	0.81541	CCA		0.428	ETFDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365718.2			18	353	0	0	0	1	0	18	353				
KAZN	23254	broad.mit.edu	37	1	15420822	15420822	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr1:15420822G>A	ENST00000376030.2	+	9	1663	c.1369G>A	c.(1369-1371)Gtg>Atg	p.V457M		NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	457	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.				keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						CTGGCTGGAGGTGGTGATGGC	0.652																																						ENST00000376030.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						c.(1369-1371)Gtg>Atg		kazrin, periplakin interacting protein							34.0	42.0	40.0					1																	15420822		2127	4231	6358	SO:0001583	missense	23254				keratinization	cornified envelope|cytoplasm|desmosome|nucleus		g.chr1:15420822G>A	AY505119	CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1	1p36.21	2014-02-12	2011-01-31		ENSG00000189337	ENSG00000189337		"""Sterile alpha motif (SAM) domain containing"""	29173	protein-coding gene	gene with protein product						15337775, 18840647	Standard	NM_015209		Approved	KIAA1026, KAZRIN, FLJ43806	uc001avm.4	Q674X7	OTTHUMG00000002042	ENST00000376030.2:c.1369G>A	1.37:g.15420822G>A	ENSP00000365198:p.Val457Met						p.V457M	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN			9	1663	+			457			SAM 1.		B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4	Missense_Mutation	SNP	ENST00000376030.2	37	c.1369G>A	CCDS152.2	.	.	.	.	.	.	.	.	.	.	G	24.0	4.483564	0.84854	.	.	ENSG00000189337	ENST00000376030	T	0.49432	0.78	4.68	4.68	0.58851	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.53938	D	0.000060	T	0.66839	0.2830	M	0.75447	2.3	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	T	0.70651	-0.4813	10	0.66056	D	0.02	-30.3566	13.4568	0.61204	0.0:0.0:1.0:0.0	.	457	Q674X7	KAZRN_HUMAN	M	457	ENSP00000365198:V457M	ENSP00000365198:V457M	V	+	1	0	KAZN	15293409	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.216000	0.65246	2.322000	0.78497	0.561000	0.74099	GTG		0.652	KAZN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005690.2	NM_001017999		4	35	0	0	0	1	0	4	35				
ERF	2077	broad.mit.edu	37	19	42754049	42754049	+	Silent	SNP	C	C	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr19:42754049C>A	ENST00000222329.4	-	3	460	c.303G>T	c.(301-303)cgG>cgT	p.R101R	AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000595941.1_5'Flank|ERF_ENST00000440177.2_Silent_p.R26R	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	101					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				TGTAGGTGAACCGTTTCCCCT	0.488																																						ENST00000222329.4																			0				central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17						c.(301-303)cgG>cgT		Ets2 repressor factor							390.0	333.0	352.0					19																	42754049		2203	4300	6503	SO:0001819	synonymous_variant	2077				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:42754049C>A	U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"""Ets2 repressor factor"""	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.303G>T	19.37:g.42754049C>A						ERF_ENST00000440177.2_Silent_p.R26R|AC006486.9_ENST00000594664.1_Intron	p.R101R	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN			3	460	-		Prostate(69;0.00682)	101					B2RAP1|B7Z4R0|Q59G38|Q9UPI7	Silent	SNP	ENST00000222329.4	37	c.303G>T	CCDS12600.1																																																																																				0.488	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	NM_006494		48	138	1	0	4.10826e-27	1	4.62487e-27	48	138				
NXF4	55999	broad.mit.edu	37	X	101817596	101817596	+	RNA	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chrX:101817596C>T	ENST00000360035.2	+	0	522					NR_002216.1				nuclear RNA export factor 4 pseudogene											endometrium(2)|lung(8)	10						TGCAGTGTCCCCTTCACTCCA	0.488																																						ENST00000360035.2																			0				endometrium(2)|lung(8)	10																																														55999							g.chrX:101817596C>T	AK124700		Xq22	2005-01-24			ENSG00000196970	ENSG00000196970			8074	pseudogene	pseudogene		300318	"""nuclear RNA export factor 4"""			11566096	Standard	NR_002216		Approved		uc004ejf.1		OTTHUMG00000039695		X.37:g.101817596C>T								NR_002216.1						0	522	+									RNA	SNP	ENST00000360035.2	37																																																																																						0.488	NXF4-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000095720.1			5	14	0	0	0	1	0	5	14				
MUC16	94025	broad.mit.edu	37	19	9046542	9046542	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr19:9046542T>C	ENST00000397910.4	-	5	35292	c.35089A>G	c.(35089-35091)Acc>Gcc	p.T11697A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11699	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTGTGCTGGTCTGTGGAGGA	0.522																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(35089-35091)Acc>Gcc		mucin 16, cell surface associated							118.0	116.0	117.0					19																	9046542		2009	4171	6180	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9046542T>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.35089A>G	19.37:g.9046542T>C	ENSP00000381008:p.Thr11697Ala						p.T11697A	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			5	35292	-			11699			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.35089A>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	6.090	0.384938	0.11524	.	.	ENSG00000181143	ENST00000397910	T	0.01998	4.51	3.22	-0.0256	0.13934	.	.	.	.	.	T	0.02688	0.0081	L	0.47190	1.495	.	.	.	B	0.21225	0.053	B	0.22152	0.038	T	0.18618	-1.0331	8	0.87932	D	0	.	6.8031	0.23762	0.0:0.3372:0.0:0.6628	.	11697	B5ME49	.	A	11697	ENSP00000381008:T11697A	ENSP00000381008:T11697A	T	-	1	0	MUC16	8907542	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.314000	0.08092	-0.078000	0.12730	-0.386000	0.06593	ACC		0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		15	80	0	0	0	1	0	15	80				
GRM8	2918	broad.mit.edu	37	7	126086333	126086333	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr7:126086333T>A	ENST00000339582.2	-	10	3332	c.2524A>T	c.(2524-2526)Att>Ttt	p.I842F	GRM8_ENST00000358373.3_Missense_Mutation_p.I842F|GRM8_ENST00000444921.2_Missense_Mutation_p.I842F			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	842					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				GGATGAAAAATTATAATATAA	0.418										HNSCC(24;0.065)																												ENST00000339582.2																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(2524-2526)Att>Ttt		glutamate receptor, metabotropic 8	L-Glutamic Acid(DB00142)						85.0	82.0	83.0					7																	126086333		2203	4300	6503	SO:0001583	missense	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126086333T>A		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.2524A>T	7.37:g.126086333T>A	ENSP00000344173:p.Ile842Phe	HNSCC(24;0.065)				GRM8_ENST00000444921.2_Missense_Mutation_p.I842F|GRM8_ENST00000358373.3_Missense_Mutation_p.I842F	p.I842F			O00222	GRM8_HUMAN			10	3332	-		Prostate(267;0.186)	842					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.2524A>T	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	T	15.52	2.859075	0.51376	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373	D;D;D	0.88975	-2.37;-2.37;-2.45	5.93	4.76	0.60689	GPCR, family 3, C-terminal (1);	0.108147	0.64402	D	0.000009	D	0.87736	0.6252	M	0.64404	1.975	0.80722	D	1	P;B	0.49783	0.928;0.061	B;B	0.43103	0.408;0.04	D	0.87628	0.2514	10	0.87932	D	0	.	12.5324	0.56122	0.0:0.0:0.1392:0.8608	.	842;842	O00222-2;O00222	.;GRM8_HUMAN	F	842	ENSP00000344173:I842F;ENSP00000409790:I842F;ENSP00000351142:I842F	ENSP00000344173:I842F	I	-	1	0	GRM8	125873569	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.444000	0.52914	1.041000	0.40125	0.533000	0.62120	ATT		0.418	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			9	49	0	0	0	1	0	9	49				
NADSYN1	55191	broad.mit.edu	37	11	71169582	71169582	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr11:71169582C>G	ENST00000319023.2	+	3	443	c.255C>G	c.(253-255)gaC>gaG	p.D85E		NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	85	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	TCATCTGCGACGTGGGGATGT	0.567																																					Ovarian(79;763 1781 6490 50276)	ENST00000319023.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(253-255)gaC>gaG		NAD synthetase 1	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						124.0	102.0	110.0					11																	71169582		2200	4294	6494	SO:0001583	missense	55191				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding	g.chr11:71169582C>G	AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.255C>G	11.37:g.71169582C>G	ENSP00000326424:p.Asp85Glu						p.D85E	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN			3	443	+			85			CN hydrolase.		B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Missense_Mutation	SNP	ENST00000319023.2	37	c.255C>G	CCDS8201.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.352780	0.61293	.	.	ENSG00000172890	ENST00000319023	D	0.87887	-2.31	4.53	-7.28	0.01456	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	0.000000	0.85682	D	0.000000	D	0.93536	0.7937	H	0.95539	3.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93028	0.6446	10	0.54805	T	0.06	-31.5966	13.8379	0.63421	0.0:0.3519:0.0:0.6481	.	85	Q6IA69	NADE_HUMAN	E	85	ENSP00000326424:D85E	ENSP00000326424:D85E	D	+	3	2	NADSYN1	70847230	0.001000	0.12720	0.588000	0.28705	0.671000	0.39405	-2.383000	0.01063	-1.725000	0.01371	-0.258000	0.10820	GAC		0.567	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394356.1	NM_018161		11	122	0	0	0	1	0	11	122				
IZUMO2	126123	broad.mit.edu	37	19	50666045	50666045	+	Silent	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr19:50666045C>T	ENST00000293405.3	-	2	258	c.258G>A	c.(256-258)gcG>gcA	p.A86A		NM_152358.2	NP_689571.2	Q6UXV1	IZUM2_HUMAN	IZUMO family member 2	86						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						TGACAAAGGACGCCACAAGGT	0.582																																						ENST00000293405.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						c.(256-258)gcG>gcA		IZUMO family member 2							128.0	124.0	126.0					19																	50666045		1958	4157	6115	SO:0001819	synonymous_variant	126123					integral to membrane		g.chr19:50666045C>T	AY358196	CCDS12792.2	19q13.33	2014-02-17	2010-07-29	2010-07-29	ENSG00000161652	ENSG00000161652		"""-"""	28518	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 41"""	C19orf41		19658160, 22957301	Standard	XM_006723007		Approved	MGC33947, SCRL	uc002prp.1	Q6UXV1	OTTHUMG00000074063	ENST00000293405.3:c.258G>A	19.37:g.50666045C>T							p.A86A	NM_152358.2	NP_689571.2	Q6UXV1	IZUM2_HUMAN			2	258	-			86					Q5GRG3|Q5GRG4|Q6ZNM5|Q8NHR8	Silent	SNP	ENST00000293405.3	37	c.258G>A	CCDS12792.2																																																																																				0.582	IZUMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157232.1	NM_152358		14	84	0	0	0	1	0	14	84				
ARID3B	10620	broad.mit.edu	37	15	74883702	74883702	+	Silent	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr15:74883702C>T	ENST00000346246.5	+	6	1323	c.1092C>T	c.(1090-1092)atC>atT	p.I364I		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	364	Interaction with RB1.					nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						GCTTTCCCATCCTTGGGCTTG	0.622																																						ENST00000346246.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						c.(1090-1092)atC>atT		AT rich interactive domain 3B (BRIGHT-like)							59.0	67.0	64.0					15																	74883702		2197	4295	6492	SO:0001819	synonymous_variant	10620				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr15:74883702C>T		CCDS10264.1	15q24	2013-02-07	2006-11-08		ENSG00000179361	ENSG00000179361		"""-"""	14350	protein-coding gene	gene with protein product		612457	"""AT rich interactive domain 3B (BRIGHT- like)"""				Standard	NM_006465		Approved	BDP, DRIL2	uc002ayd.3	Q8IVW6	OTTHUMG00000141321	ENST00000346246.5:c.1092C>T	15.37:g.74883702C>T							p.I364I	NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN			6	1323	+			364			Interaction with RB1.		O95443|Q59HC9|Q6P9C9	Silent	SNP	ENST00000346246.5	37	c.1092C>T	CCDS10264.1																																																																																				0.622	ARID3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280688.2	NM_006465		22	98	0	0	0	1	0	22	98				
FAM41C	284593	broad.mit.edu	37	1	812279	812279	+	lincRNA	DEL	G	G	-			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr1:812279delG	ENST00000446136.1	-	0	4					NR_027055.1				family with sequence similarity 41, member C																		GAAGCCTACAGGCAGCAGAAC	0.542																																						ENST00000446136.1																			0																																																			284593							g.chr1:812279delG	BC047940		1p36.33	2013-01-16	2011-08-31	2011-08-31	ENSG00000230368	ENSG00000230368		"""Long non-coding RNAs"""	27635	non-coding RNA	RNA, long non-coding						12477932	Standard	NR_027055		Approved		uc001abt.4		OTTHUMG00000002469		1.37:g.812279delG								NR_027055.1						0	4	-									RNA	DEL	ENST00000446136.1	37																																																																																						0.542	FAM41C-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000007021.1	NR_027055		2	4						2	4	---	---	---	---
IFT172	26160	broad.mit.edu	37	2	27669129	27669130	+	Frame_Shift_Ins	INS	-	-	GGCA			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr2:27669129_27669130insGGCA	ENST00000260570.3	-	43	4855_4856	c.4752_4753insTGCC	c.(4750-4755)gccaagfs	p.K1585fs	KRTCAP3_ENST00000543753.1_Intron	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	1585					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CAGCTCACCTTGGCAGCAATGC	0.505																																						ENST00000260570.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43						c.(4750-4755)gcaggcfs		intraflagellar transport 172 homolog (Chlamydomonas)																																				SO:0001589	frameshift_variant	26160				cilium assembly	cilium	binding	g.chr2:27669129_27669130insGGCA	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.4749_4752dupTGCC	2.37:g.27669130_27669133dupGGCA	ENSP00000260570:p.Lys1585fs					KRTCAP3_ENST00000543753.1_Intron	p.G1585fs	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN			43	4855_4856	-	Acute lymphoblastic leukemia(172;0.155)		1585					A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Frame_Shift_Ins	INS	ENST00000260570.3	37	c.4752_4753insTGCC	CCDS1755.1																																																																																				0.505	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		7	99						7	99	---	---	---	---
MUC20	200958	broad.mit.edu	37	3	195447912	195447914	+	In_Frame_Del	DEL	TTC	TTC	-	rs201907823	byFrequency	TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr3:195447912_195447914delTTC	ENST00000447234.2	+	1	160_162	c.34_36delTTC	c.(34-36)ttcdel	p.F14del	MUC20_ENST00000320736.6_In_Frame_Del_p.F14del|MUC20_ENST00000436408.1_In_Frame_Del_p.F14del|MUC20_ENST00000485430.1_3'UTR	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	14					activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260)	basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		TCTGCCCCTTTTCTTCTTCTGCT	0.611														210	0.0419329	0.1104	0.0202	5008	,	,		38073	0.0		0.0149	False		,,,				2504	0.0358					ENST00000320736.6																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23						c.(34-36)del		mucin 20, cell surface associated				386,3300		8,370,1465						1.6	0.2			59	120,7760		1,118,3821	no	coding	MUC20	NM_152673.2		9,488,5286	A1A1,A1R,RR		1.5228,10.4721,4.3749				506,11060				SO:0001651	inframe_deletion	200958				protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane		g.chr3:195447912_195447914delTTC	AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945		"""Mucins"""	23282	protein-coding gene	gene with protein product		610360				14565953	Standard	NM_001282506		Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000447234.2:c.34_36delTTC	3.37:g.195447918_195447920delTTC	ENSP00000414350:p.Phe14del					MUC20_ENST00000447234.2_In_Frame_Del_p.F14del|MUC20_ENST00000485430.1_3'UTR|MUC20_ENST00000436408.1_In_Frame_Del_p.F14del	p.F14del	NM_001098516.1|NM_152673.2	NP_001091986.1|NP_689886.2	Q8N307	MUC20_HUMAN	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)	1	160_162	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	14					Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	In_Frame_Del	DEL	ENST00000447234.2	37	c.34_36delTTC																																																																																					0.611	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000341835.1	NM_152673		8	22						8	22	---	---	---	---
WDR46	9277	broad.mit.edu	37	6	33255224	33255225	+	Frame_Shift_Ins	INS	-	-	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr6:33255224_33255225insA	ENST00000374617.4	-	8	1142_1143	c.786_787insT	c.(784-789)tatgacfs	p.D263fs	PFDN6_ENST00000395131.1_5'Flank|PFDN6_ENST00000463584.1_5'Flank|PFDN6_ENST00000374607.1_5'Flank|WDR46_ENST00000477718.1_5'Flank|PFDN6_ENST00000374606.5_5'Flank|PFDN6_ENST00000374610.2_5'Flank	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	263							poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						CCCTGATTGTCATAGATGTGGA	0.545																																						ENST00000374617.4																			0				NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						c.(784-789)taacaafs		WD repeat domain 46																																				SO:0001589	frameshift_variant	9277							g.chr6:33255224_33255225insA	Z97184	CCDS4772.1	6p21.3	2013-01-09	2005-05-31	2005-05-31	ENSG00000227057	ENSG00000227057		"""WD repeat domain containing"""	13923	protein-coding gene	gene with protein product		611440	"""chromosome 6 open reading frame 11"""	C6orf11		9545376, 9521053	Standard	NM_005452		Approved	BING4, UTP7	uc003ods.3	O15213	OTTHUMG00000031192	ENST00000374617.4:c.787dupT	6.37:g.33255225_33255225dupA	ENSP00000363746:p.Asp263fs						p.*Q262fs	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN			8	1142_1143	-			262					A6NDP5|Q5HYZ0|Q5STK5|Q5STR3	Frame_Shift_Ins	INS	ENST00000374617.4	37	c.786_787insT	CCDS4772.1																																																																																				0.545	WDR46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076382.2	NM_005452		23	65						23	65	---	---	---	---
ZNF629	23361	broad.mit.edu	37	16	30793334	30793334	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr16:30793334delT	ENST00000262525.4	-	3	2522	c.2315delA	c.(2314-2316)gatfs	p.D772fs	RP11-2C24.6_ENST00000575562.1_RNA	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	772					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(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			GGCCCTGCAATCTGAGCAGCG	0.652																																						ENST00000262525.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22						c.(2314-2316)gtfs		zinc finger protein 629							69.0	81.0	77.0					16																	30793334		1901	4105	6006	SO:0001589	frameshift_variant	23361				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30793334delT	AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870		"""Zinc fingers, C2H2-type"""	29008	protein-coding gene	gene with protein product			"""zinc finger protein 65"""	ZNF65		9205841	Standard	NM_001080417		Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.2315delA	16.37:g.30793334delT	ENSP00000262525:p.Asp772fs						p.D772fs	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	Colorectal(24;0.198)		3	2522	-			772					Q15938	Frame_Shift_Del	DEL	ENST00000262525.4	37	c.2315delA	CCDS45463.1																																																																																				0.652	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434291.1	NM_015309		56	116						56	116	---	---	---	---
SPATA32	124783	broad.mit.edu	37	17	43339503	43339519	+	5'Flank	DEL	CTGTGATGTCGCCGCCT	CTGTGATGTCGCCGCCT	-	rs369318086	byFrequency	TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr17:43339503_43339519delCTGTGATGTCGCCGCCT	ENST00000331780.4	-	0	0				MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14_ENST00000344686.2_RNA|SPATA32_ENST00000543122.1_5'Flank|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000586450.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000585780.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA	NM_152343.2	NP_689556.2	Q96LK8	SPT32_HUMAN	spermatogenesis associated 32						spermatogenesis (GO:0007283)	perinuclear region of cytoplasm (GO:0048471)											GCGCCGGTGCCTGTGATGTCGCCGCCTCTGTGACGTC	0.691																																						ENST00000585780.1																			0																																																	SO:0001631	upstream_gene_variant	100133991							g.chr17:43339503_43339519delCTGTGATGTCGCCGCCT	AK058143	CCDS32669.1	17q21.31	2013-10-11	2012-10-08	2012-10-08	ENSG00000184361	ENSG00000184361			26349	protein-coding gene	gene with protein product	"""acrosome expressed 2"""		"""chromosome 17 open reading frame 46"", ""testis expressed 34"""	C17orf46, TEX34		18621766	Standard	NM_152343		Approved	FLJ25414, AEP2, VAD1.2	uc002iis.1	Q96LK8	OTTHUMG00000180363		17.37:g.43339503_43339519delCTGTGATGTCGCCGCCT	Exception_encountered					MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000586450.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA								0	360_376	+								Q7Z4U1|Q8N6V6	RNA	DEL	ENST00000331780.4	37		CCDS32669.1																																																																																				0.691	SPATA32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450946.1	NM_152343		3	5						3	5	---	---	---	---
ANKRD20A18P	391269	broad.mit.edu	37	21	15436915	15436915	+	RNA	DEL	G	G	-	rs148280092		TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr21:15436915delG	ENST00000428809.1	+	0	177				AP001347.6_ENST00000432621.1_RNA|AP001347.6_ENST00000448463.1_RNA																							CCCCTGGGACGGGGGCCTTGG	0.687																																						ENST00000428809.1																			0																																																			391269							g.chr21:15436915delG																													21.37:g.15436915delG														0	177	+									RNA	DEL	ENST00000428809.1	37																																																																																						0.687	AP001347.6-001	KNOWN	basic	antisense	antisense	OTTHUMT00000157812.1			4	6						4	6	---	---	---	---
