#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
TMEM33	55161	broad.mit.edu	37	4	41941241	41941241	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr4:41941241C>T	ENST00000504986.1	+	3	534	c.169C>T	c.(169-171)Cgt>Tgt	p.R57C	TMEM33_ENST00000325094.5_Missense_Mutation_p.R57C|TMEM33_ENST00000513702.1_Missense_Mutation_p.R57C	NM_018126.2	NP_060596.2	P57088	TMM33_HUMAN	transmembrane protein 33	57						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)				endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9						CTTTTACCAACGTGCTTTGCT	0.458																																						ENST00000504986.1																			0				endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9						c.(169-171)Cgt>Tgt		transmembrane protein 33							128.0	112.0	117.0					4																	41941241		2203	4300	6503	SO:0001583	missense	55161					integral to membrane|melanosome	protein binding	g.chr4:41941241C>T	BC000948	CCDS3464.1	4p14	2008-02-05			ENSG00000109133	ENSG00000109133			25541	protein-coding gene	gene with protein product						12477932	Standard	NM_018126		Approved	FLJ10525	uc003gwi.2	P57088	OTTHUMG00000099381	ENST00000504986.1:c.169C>T	4.37:g.41941241C>T	ENSP00000422473:p.Arg57Cys					TMEM33_ENST00000325094.5_Missense_Mutation_p.R57C|TMEM33_ENST00000513702.1_Missense_Mutation_p.R57C	p.R57C	NM_018126.2	NP_060596.2	P57088	TMM33_HUMAN			3	534	+			57					B3KSS8|Q9H953	Missense_Mutation	SNP	ENST00000504986.1	37	c.169C>T	CCDS3464.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.003475	0.74932	.	.	ENSG00000109133	ENST00000504986;ENST00000508448;ENST00000513702;ENST00000325094	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.79488	0.4454	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77330	-0.2628	9	0.34782	T	0.22	-10.7529	19.2023	0.93715	0.0:1.0:0.0:0.0	.	57	P57088	TMM33_HUMAN	C	57	.	ENSP00000441455:R57C	R	+	1	0	TMEM33	41635998	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	3.589000	0.53972	2.540000	0.85666	0.591000	0.81541	CGT		0.458	TMEM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216834.2	NM_018126		32	46	0	0	0	1	0	32	46				
TP53	7157	broad.mit.edu	37	17	7578211	7578211	+	Missense_Mutation	SNP	C	C	T	rs587778720		TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr17:7578211C>T	ENST00000269305.4	-	6	827	c.638G>A	c.(637-639)cGa>cAa	p.R213Q	TP53_ENST00000445888.2_Missense_Mutation_p.R213Q|TP53_ENST00000413465.2_Missense_Mutation_p.R213Q|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.R213Q|TP53_ENST00000455263.2_Missense_Mutation_p.R213Q|TP53_ENST00000359597.4_Missense_Mutation_p.R213Q	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	213	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (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.R213L(38)|p.R213Q(29)|p.0?(8)|p.R213P(5)|p.?(5)|p.R120L(4)|p.R81L(4)|p.R120Q(2)|p.R81Q(2)|p.D208_V216delDRNTFRHSV(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.D208fs*1(1)|p.R213>L(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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)	CACACTATGTCGAAAAGTGTT	0.532		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"""		110	Substitution - Missense(85)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(5)|Unknown(5)|Complex - deletion inframe(1)|Complex - compound substitution(1)	p.R213L(38)|p.R213Q(29)|p.0?(8)|p.R213P(5)|p.?(5)|p.R120L(4)|p.R81L(4)|p.R120Q(2)|p.R81Q(2)|p.D208_V216delDRNTFRHSV(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.D208fs*1(1)|p.R213>L(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)	prostate(15)|large_intestine(14)|urinary_tract(9)|liver(9)|haematopoietic_and_lymphoid_tissue(8)|biliary_tract(6)|stomach(6)|oesophagus(6)|kidney(5)|lung(5)|central_nervous_system(4)|ovary(4)|pancreas(4)|bone(4)|upper_aerodigestive_tract(3)|soft_tissue(2)|eye(2)|vulva(1)|endometrium(1)|skin(1)|breast(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM004906|CM022474	TP53	M		c.(637-639)cGa>cAa	Other conserved DNA damage response genes	tumor protein p53							132.0	118.0	122.0					17																	7578211		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.chr17:7578211C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.638G>A	17.37:g.7578211C>T	ENSP00000269305:p.Arg213Gln	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.R213Q|TP53_ENST00000269305.4_Missense_Mutation_p.R213Q|TP53_ENST00000445888.2_Missense_Mutation_p.R213Q|TP53_ENST00000413465.2_Missense_Mutation_p.R213Q|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R213Q	p.R213Q	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)	6	770	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	213		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.638G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	37	6.233765	0.97399	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	5.28	4.32	0.51571	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.057335	0.64402	N	0.000003	D	0.99871	0.9939	M	0.92507	3.315	0.50039	D	0.999845	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.993;0.996;1.0;0.995;0.994;0.999	D	0.96662	0.9490	10	0.87932	D	0	-7.5444	11.7807	0.52013	0.0:0.9141:0.0:0.0859	.	174;213;213;120;213;213;213	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Q	213;213;213;213;213;213;202;120;81;120;81	ENSP00000410739:R213Q;ENSP00000352610:R213Q;ENSP00000269305:R213Q;ENSP00000398846:R213Q;ENSP00000391127:R213Q;ENSP00000391478:R213Q;ENSP00000425104:R81Q;ENSP00000423862:R120Q	ENSP00000269305:R213Q	R	-	2	0	TP53	7518936	0.996000	0.38824	0.185000	0.23176	0.961000	0.63080	7.775000	0.85489	1.367000	0.46095	0.563000	0.77884	CGA		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		25	2	0	0	0	1	0	25	2				
TXNDC12	51060	broad.mit.edu	37	1	52507235	52507235	+	Silent	SNP	T	T	C			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr1:52507235T>C	ENST00000371626.4	-	2	1206	c.132A>G	c.(130-132)gaA>gaG	p.E44E	TXNDC12_ENST00000610127.1_Silent_p.E44E|RP11-91A18.4_ENST00000425802.1_RNA	NM_015913.3	NP_056997.1	O95881	TXD12_HUMAN	thioredoxin domain containing 12 (endoplasmic reticulum)	44					cell redox homeostasis (GO:0045454)	endoplasmic reticulum (GO:0005783)	protein-disulfide reductase (glutathione) activity (GO:0019153)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7					Glutathione(DB00143)	TCTTCCCATCTTCCAGTGTCC	0.398																																						ENST00000371626.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						c.(130-132)gaA>gaG		thioredoxin domain containing 12 (endoplasmic reticulum)							132.0	116.0	121.0					1																	52507235		2203	4300	6503	SO:0001819	synonymous_variant	51060				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	g.chr1:52507235T>C	AF131758	CCDS561.1	1p32.3	2011-10-19			ENSG00000117862	ENSG00000117862		"""Protein disulfide isomerases"""	24626	protein-coding gene	gene with protein product	"""endoplasmic reticulum thioredoxin superfamily member, 18 kDa"", ""anterior gradient homolog 1 (Xenopus laevis)"", ""protein disulfide isomerase family A, member 16"""	609448				8619474, 9110174	Standard	NM_015913		Approved	TLP19, ERP18, ERP19, hAG-1, AGR1, PDIA16	uc001cti.4	O95881	OTTHUMG00000008629	ENST00000371626.4:c.132A>G	1.37:g.52507235T>C						TXNDC12_ENST00000472624.1_5'UTR|RP11-91A18.4_ENST00000425802.1_RNA	p.E44E	NM_015913.3	NP_056997.1	O95831	AIFM1_HUMAN			2	1206	-			384					B3KQS0|Q5T1T4|Q96H50	Silent	SNP	ENST00000371626.4	37	c.132A>G	CCDS561.1																																																																																				0.398	TXNDC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023818.1	NM_015913		30	34	0	0	0	1	0	30	34				
SAP130	79595	broad.mit.edu	37	2	128747140	128747140	+	Nonsense_Mutation	SNP	G	G	C			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr2:128747140G>C	ENST00000259235.3	-	13	1985	c.1856C>G	c.(1855-1857)tCa>tGa	p.S619*	SAP130_ENST00000357702.5_Nonsense_Mutation_p.S619*|SAP130_ENST00000259234.6_Nonsense_Mutation_p.S593*	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	619					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		AAAATTACCTGAAGTCTTTCC	0.433																																						ENST00000357702.5																			0				NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45						c.(1855-1857)tCa>tGa		Sin3A-associated protein, 130kDa							62.0	63.0	62.0					2																	128747140		2203	4300	6503	SO:0001587	stop_gained	79595				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:128747140G>C	BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.1856C>G	2.37:g.128747140G>C	ENSP00000259235:p.Ser619*					SAP130_ENST00000259234.6_Nonsense_Mutation_p.S593*|SAP130_ENST00000259235.3_Nonsense_Mutation_p.S619*	p.S619*	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0771)	13	1987	-	Colorectal(110;0.1)		619					B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Nonsense_Mutation	SNP	ENST00000259235.3	37	c.1856C>G	CCDS2153.1	.	.	.	.	.	.	.	.	.	.	G	40	8.014299	0.98610	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234	.	.	.	5.92	5.92	0.95590	.	0.120947	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-12.5011	20.3214	0.98679	0.0:0.0:1.0:0.0	.	.	.	.	X	619;619;593	.	ENSP00000259234:S593X	S	-	2	0	SAP130	128463610	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	6.603000	0.74145	2.804000	0.96469	0.655000	0.94253	TCA		0.433	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545		31	24	0	0	0	1	0	31	24				
OSCAR	126014	broad.mit.edu	37	19	54600417	54600417	+	Silent	SNP	C	C	T			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr19:54600417C>T	ENST00000284648.6	-	4	302	c.105G>A	c.(103-105)ctG>ctA	p.L35L	OSCAR_ENST00000391760.1_Intron|OSCAR_ENST00000359649.4_Silent_p.L39L|OSCAR_ENST00000358375.4_Silent_p.L35L|OSCAR_ENST00000351806.4_Silent_p.L24L|OSCAR_ENST00000391761.1_Silent_p.L24L|OSCAR_ENST00000356532.3_Silent_p.L39L			Q8IYS5	OSCAR_HUMAN	osteoclast associated, immunoglobulin-like receptor	35	Ig-like 1.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(1)|skin(1)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					GCTGAGCTCCCAGCCATGGCT	0.602																																						ENST00000284648.6																			0				large_intestine(1)|skin(1)	2						c.(103-105)ctG>ctA		osteoclast associated, immunoglobulin-like receptor							49.0	54.0	52.0					19																	54600417		2203	4300	6503	SO:0001819	synonymous_variant	126014					extracellular region|integral to membrane|plasma membrane	receptor activity	g.chr19:54600417C>T	AK130199	CCDS12873.1, CCDS12874.1, CCDS12875.1, CCDS12876.1, CCDS62789.1, CCDS74444.1	19q13.42	2013-01-29			ENSG00000170909	ENSG00000170909		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29960	protein-coding gene	gene with protein product		606862				11805147	Standard	NM_206818		Approved		uc002qda.3	Q8IYS5	OTTHUMG00000064966	ENST00000284648.6:c.105G>A	19.37:g.54600417C>T						OSCAR_ENST00000391760.1_Intron|OSCAR_ENST00000351806.4_Silent_p.L24L|OSCAR_ENST00000359649.4_Silent_p.L39L|OSCAR_ENST00000356532.3_Silent_p.L39L|OSCAR_ENST00000358375.4_Silent_p.L35L|OSCAR_ENST00000391761.1_Silent_p.L24L	p.L35L			Q8IYS5	OSCAR_HUMAN			4	302	-	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)		35			Ig-like 1.		B7WNS2|Q5GRG5|Q8N763|Q8NHL4|Q8WXQ0|Q8WXQ1|Q8WXQ2	Silent	SNP	ENST00000284648.6	37	c.105G>A																																																																																					0.602	OSCAR-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000139493.4	NM_133169		32	14	0	0	0	1	0	32	14				
MUM1L1	139221	broad.mit.edu	37	X	105450235	105450235	+	Silent	SNP	T	T	C			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chrX:105450235T>C	ENST00000357175.2	+	4	1459	c.810T>C	c.(808-810)tcT>tcC	p.S270S	MUM1L1_ENST00000372552.1_Silent_p.S270S|MUM1L1_ENST00000337685.2_Silent_p.S270S	NM_001171020.1	NP_001164491.1	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	270						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CTGTTCCCTCTGAATGCTCTG	0.473																																						ENST00000337685.2																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(808-810)tcT>tcC		melanoma associated antigen (mutated) 1-like 1							43.0	38.0	40.0					X																	105450235		1872	4102	5974	SO:0001819	synonymous_variant	139221							g.chrX:105450235T>C	AK090835	CCDS55469.1	Xq22.3	2008-02-05			ENSG00000157502	ENSG00000157502			26583	protein-coding gene	gene with protein product							Standard	NM_152423		Approved	FLJ33516	uc004emf.2	Q5H9M0	OTTHUMG00000022146	ENST00000357175.2:c.810T>C	X.37:g.105450235T>C						MUM1L1_ENST00000372552.1_Silent_p.S270S|MUM1L1_ENST00000357175.2_Silent_p.S270S	p.S270S	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN			5	1595	+			270					D3DUX2|Q49AS5|Q8N2C0|Q96MT6	Silent	SNP	ENST00000357175.2	37	c.810T>C	CCDS55469.1																																																																																				0.473	MUM1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057795.1	NM_152423		10	12	0	0	0	1	0	10	12				
VPS13D	55187	broad.mit.edu	37	1	12557680	12557680	+	Silent	SNP	C	C	T			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr1:12557680C>T	ENST00000358136.3	+	68	12919	c.12789C>T	c.(12787-12789)gaC>gaT	p.D4263D	VPS13D_ENST00000543766.1_Silent_p.D261D|VPS13D_ENST00000543710.1_Silent_p.D67D|VPS13D_ENST00000471923.1_5'UTR|VPS13D_ENST00000356315.4_Silent_p.D4238D|VPS13D_ENST00000496628.1_3'UTR	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ACATACAGGACGAATTGTAAG	0.517																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(12787-12789)gaC>gaT		vacuolar protein sorting 13 homolog D (S. cerevisiae)							79.0	79.0	79.0					1																	12557680		2203	4300	6503	SO:0001819	synonymous_variant	55187				protein localization			g.chr1:12557680C>T	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.12789C>T	1.37:g.12557680C>T						VPS13D_ENST00000543766.1_Silent_p.D261D|VPS13D_ENST00000471923.1_5'UTR|VPS13D_ENST00000543710.1_Silent_p.D67D|VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Silent_p.D4238D	p.D4263D	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	68	12919	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	4262						Silent	SNP	ENST00000358136.3	37	c.12789C>T	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	C	5.837	0.338722	0.11069	.	.	ENSG00000048707	ENST00000011700	.	.	.	6.03	-11.4	0.00090	.	.	.	.	.	T	0.59514	0.2199	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73209	-0.4055	4	.	.	.	.	16.1727	0.81828	0.0:0.5249:0.0:0.4751	.	.	.	.	M	3085	.	.	T	+	2	0	VPS13D	12480267	0.000000	0.05858	0.351000	0.25721	0.632000	0.37999	-3.046000	0.00630	-2.288000	0.00668	-0.794000	0.03295	ACG		0.517	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		19	31	0	0	0	1	0	19	31				
CR1L	1379	broad.mit.edu	37	1	207867851	207867851	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr1:207867851A>T	ENST00000508064.2	+	5	677	c.617A>T	c.(616-618)tAc>tTc	p.Y206F	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	206	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|receptor complex (GO:0043235)				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CCCTCCATATACTGCACCAGC	0.478																																						ENST00000508064.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(616-618)tAc>tTc		complement component (3b/4b) receptor 1-like							222.0	207.0	211.0					1																	207867851		1931	4141	6072	SO:0001583	missense	1379					cytoplasm|extracellular region|membrane		g.chr1:207867851A>T	AY114160	CCDS44310.1	1q32.1	2008-02-05			ENSG00000197721	ENSG00000197721		"""Complement system"""	2335	protein-coding gene	gene with protein product		605886				2295627	Standard	NM_175710		Approved		uc001hga.4	Q2VPA4	OTTHUMG00000036354	ENST00000508064.2:c.617A>T	1.37:g.207867851A>T	ENSP00000421736:p.Tyr206Phe					CR1L_ENST00000530905.1_Intron	p.Y206F	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN			5	677	+			206			Sushi 3.		Q32MC9|Q8NEU7	Missense_Mutation	SNP	ENST00000508064.2	37	c.617A>T	CCDS44310.1	.	.	.	.	.	.	.	.	.	.	A	9.881	1.201459	0.22121	.	.	ENSG00000197721	ENST00000444269;ENST00000508064	T	0.64085	-0.08	2.38	1.11	0.20524	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.58264	0.2110	L	0.50919	1.6	0.09310	N	1	B	0.33171	0.4	P	0.44811	0.461	T	0.51004	-0.8760	9	0.25106	T	0.35	.	4.4216	0.11482	0.7054:0.0:0.0:0.2946	.	206	Q2VPA4	CR1L_HUMAN	F	206	ENSP00000421736:Y206F	ENSP00000434864:Y150F	Y	+	2	0	CR1L	205934474	0.000000	0.05858	0.003000	0.11579	0.075000	0.17131	0.372000	0.20467	0.128000	0.18479	0.248000	0.18094	TAC		0.478	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390247.1	XM_114735		84	100	0	0	0	1	0	84	100				
PLXNB3	5365	broad.mit.edu	37	X	153032991	153032991	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chrX:153032991G>C	ENST00000361971.5	+	3	823	c.709G>C	c.(709-711)Gcc>Ccc	p.A237P	PLXNB3_ENST00000538282.1_Intron|U52111.14_ENST00000434284.1_RNA|PLXNB3_ENST00000538966.1_Missense_Mutation_p.A260P|PLXNB3_ENST00000538543.1_Intron|U52111.14_ENST00000416854.1_RNA|PLXNB3_ENST00000538776.1_Intron	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	237	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CTACGTCGGGGCCTTTGCCGA	0.721																																						ENST00000538966.1																			0				central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(778-780)Gcc>Ccc		plexin B3							17.0	15.0	16.0					X																	153032991		2188	4289	6477	SO:0001583	missense	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153032991G>C	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.709G>C	X.37:g.153032991G>C	ENSP00000355378:p.Ala237Pro					PLXNB3_ENST00000538776.1_Intron|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538282.1_Intron|PLXNB3_ENST00000361971.5_Missense_Mutation_p.A237P	p.A260P	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN			4	1049	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		237			Sema.		B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	c.778G>C	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.305944	0.60305	.	.	ENSG00000198753	ENST00000538966;ENST00000361971	T;T	0.06528	3.29;3.29	4.88	4.0	0.46444	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.329046	0.26851	N	0.022161	T	0.21062	0.0507	M	0.79123	2.44	0.34189	D	0.671897	D;D	0.89917	1.0;1.0	D;D	0.79108	0.989;0.992	T	0.18335	-1.0340	10	0.66056	D	0.02	.	7.4712	0.27351	0.2005:0.0:0.7995:0.0	.	260;237	F5H773;Q9ULL4	.;PLXB3_HUMAN	P	260;237	ENSP00000442736:A260P;ENSP00000355378:A237P	ENSP00000355378:A237P	A	+	1	0	PLXNB3	152686185	0.998000	0.40836	0.157000	0.22605	0.458000	0.32498	3.001000	0.49488	2.003000	0.58678	0.529000	0.55759	GCC		0.721	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			19	12	0	0	0	1	0	19	12				
SERPINA5	5104	broad.mit.edu	37	14	95057144	95057144	+	Missense_Mutation	SNP	G	G	T	rs61761874		TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr14:95057144G>T	ENST00000554866.1	+	4	1063	c.949G>T	c.(949-951)Gtc>Ttc	p.V317F	SERPINA5_ENST00000554276.1_Missense_Mutation_p.V317F|SERPINA5_ENST00000553780.1_Missense_Mutation_p.V317F|RP11-986E7.7_ENST00000553947.1_5'Flank|SERPINA5_ENST00000329597.7_Missense_Mutation_p.V317F			P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	317					fusion of sperm to egg plasma membrane (GO:0007342)|lipid transport (GO:0006869)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|spermatogenesis (GO:0007283)	acrosomal membrane (GO:0002080)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|platelet alpha granule (GO:0031091)|platelet dense tubular network (GO:0031094)|protein C inhibitor-coagulation factor V complex (GO:0097181)|protein C inhibitor-coagulation factor Xa complex (GO:0097182)|protein C inhibitor-coagulation factor XI complex (GO:0097183)|protein C inhibitor-KLK3 complex (GO:0036029)|protein C inhibitor-plasma kallikrein complex (GO:0036030)|protein C inhibitor-PLAT complex (GO:0036026)|protein C inhibitor-PLAU complex (GO:0036027)|protein C inhibitor-thrombin complex (GO:0036028)|protein C inhibitor-TMPRSS11E complex (GO:0036025)|protein C inhibitor-TMPRSS7 complex (GO:0036024)|protein complex (GO:0043234)	acrosin binding (GO:0032190)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|phosphatidylcholine binding (GO:0031210)|protease binding (GO:0002020)|retinoic acid binding (GO:0001972)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	GCTGGAGAAAGTCCTCCCCAG	0.517																																						ENST00000329597.7																			0				endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36						c.(949-951)Gtc>Ttc		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	Drotrecogin alfa(DB00055)|Urokinase(DB00013)						104.0	88.0	93.0					14																	95057144		2203	4300	6503	SO:0001583	missense	5104				fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr14:95057144G>T	M68516	CCDS9928.1	14q32.1	2014-02-18	2005-08-18		ENSG00000188488	ENSG00000188488		"""Serine (or cysteine) peptidase inhibitors"""	8723	protein-coding gene	gene with protein product		601841	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5"""	PLANH3, PCI		1714450, 8381582, 24172014	Standard	NM_000624		Approved	PAI3, PROCI	uc001ydm.3	P05154	OTTHUMG00000170860	ENST00000554866.1:c.949G>T	14.37:g.95057144G>T	ENSP00000451126:p.Val317Phe					SERPINA5_ENST00000553780.1_Missense_Mutation_p.V317F|SERPINA5_ENST00000554866.1_Missense_Mutation_p.V317F|SERPINA5_ENST00000554276.1_Missense_Mutation_p.V317F	p.V317F	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN		COAD - Colon adenocarcinoma(157;0.21)	5	1159	+			317					Q07616|Q9UG30	Missense_Mutation	SNP	ENST00000554866.1	37	c.949G>T	CCDS9928.1	.	.	.	.	.	.	.	.	.	.	G	7.352	0.623048	0.14193	.	.	ENSG00000188488	ENST00000553780;ENST00000554866;ENST00000329597;ENST00000554506;ENST00000537685;ENST00000438291;ENST00000554276	D;D;D;D	0.86164	-2.08;-2.08;-2.08;-2.08	4.17	-2.49	0.06403	Serpin domain (3);	0.749099	0.11981	N	0.510796	T	0.80869	0.4706	M	0.69248	2.105	0.20926	N	0.999826	B	0.29988	0.264	B	0.30782	0.12	T	0.71130	-0.4682	10	0.87932	D	0	.	0.8829	0.01238	0.3886:0.1066:0.1929:0.312	.	317	P05154	IPSP_HUMAN	F	317;317;317;93;169;241;317	ENSP00000450837:V317F;ENSP00000451126:V317F;ENSP00000333203:V317F;ENSP00000451610:V317F	ENSP00000333203:V317F	V	+	1	0	SERPINA5	94126897	0.000000	0.05858	0.145000	0.22337	0.259000	0.26198	-1.393000	0.02521	-0.403000	0.07622	0.561000	0.74099	GTC		0.517	SERPINA5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410726.1	NM_000624		33	59	1	0	1.62565e-12	1	1.70973e-12	33	59				
OR51B6	390058	broad.mit.edu	37	11	5373614	5373614	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr11:5373614A>G	ENST00000380219.1	+	1	877	c.877A>G	c.(877-879)Aaa>Gaa	p.K293E	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	293					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTATAGCATTAAAACTAAGCA	0.408																																						ENST00000380219.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(877-879)Aaa>Gaa		olfactory receptor, family 51, subfamily B, member 6							109.0	109.0	109.0					11																	5373614		2201	4297	6498	SO:0001583	missense	390058				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5373614A>G		CCDS31379.1	11p15.4	2012-08-09			ENSG00000176239	ENSG00000176239		"""GPCR / Class A : Olfactory receptors"""	19600	protein-coding gene	gene with protein product							Standard	NM_001004750		Approved		uc010qzb.2	Q9H340	OTTHUMG00000066669	ENST00000380219.1:c.877A>G	11.37:g.5373614A>G	ENSP00000369568:p.Lys293Glu					HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	p.K293E	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	877	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	293						Missense_Mutation	SNP	ENST00000380219.1	37	c.877A>G	CCDS31379.1	.	.	.	.	.	.	.	.	.	.	A	19.51	3.841461	0.71488	.	.	ENSG00000176239	ENST00000537299;ENST00000380219	T	0.37584	1.19	5.13	5.13	0.70059	.	0.000000	0.56097	D	0.000028	T	0.67924	0.2945	H	0.96943	3.91	0.32791	N	0.5012	D	0.54964	0.969	P	0.57324	0.818	D	0.84151	0.0423	10	0.87932	D	0	.	13.8994	0.63794	1.0:0.0:0.0:0.0	.	293	Q9H340	O51B6_HUMAN	E	292;293	ENSP00000369568:K293E	ENSP00000369568:K293E	K	+	1	0	OR51B6	5330190	0.771000	0.28555	1.000000	0.80357	0.822000	0.46500	6.281000	0.72632	2.148000	0.66965	0.528000	0.53228	AAA		0.408	OR51B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142960.1	NM_001004750		4	113	0	0	0	1	0	4	113				
USP20	10868	broad.mit.edu	37	9	132620334	132620334	+	Silent	SNP	C	C	T			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr9:132620334C>T	ENST00000315480.4	+	5	299	c.141C>T	c.(139-141)gcC>gcT	p.A47A	USP20_ENST00000358355.1_Silent_p.A47A|USP20_ENST00000372429.3_Silent_p.A47A			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	47					endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				CCCAGGTTGCCTGCCCCTATG	0.557																																						ENST00000315480.4																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11						c.(139-141)gcC>gcT		ubiquitin specific peptidase 20							183.0	187.0	186.0					9																	132620334		2087	4221	6308	SO:0001819	synonymous_variant	0				endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr9:132620334C>T	AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"""Ubiquitin-specific peptidases"""	12619	protein-coding gene	gene with protein product		615143	"""ubiquitin specific protease 20"""			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.141C>T	9.37:g.132620334C>T						USP20_ENST00000372429.3_Silent_p.A47A|USP20_ENST00000358355.1_Silent_p.A47A	p.A47A			Q9Y2K6	UBP20_HUMAN			5	299	+		Ovarian(14;0.00556)	47					Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Silent	SNP	ENST00000315480.4	37	c.141C>T	CCDS43892.1																																																																																				0.557	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054604.2			31	117	0	0	0	1	0	31	117				
LIMK1	3984	broad.mit.edu	37	7	73513561	73513561	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr7:73513561G>T	ENST00000336180.2	+	5	652	c.601G>T	c.(601-603)Gtc>Ttc	p.V201F	LIMK1_ENST00000418310.1_Missense_Mutation_p.V231F|LIMK1_ENST00000538333.3_Missense_Mutation_p.V167F|LIMK1_ENST00000491052.1_3'UTR	NM_002314.3	NP_002305.1	P53667	LIMK1_HUMAN	LIM domain kinase 1	201	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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)	CACCGTCCGCGTCCAGGGGTG	0.647																																						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.(691-693)Gtc>Ttc		LIM domain kinase 1							51.0	48.0	49.0					7																	73513561		2202	4299	6501	SO:0001583	missense	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.chr7:73513561G>T	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.601G>T	7.37:g.73513561G>T	ENSP00000336740:p.Val201Phe					LIMK1_ENST00000491052.1_3'UTR|LIMK1_ENST00000538333.3_Missense_Mutation_p.V167F|LIMK1_ENST00000336180.2_Missense_Mutation_p.V201F	p.V231F			P53667	LIMK1_HUMAN			5	793	+		Lung NSC(55;0.137)	201			PDZ.		B7Z6I8|D3DXF4|D3DXF5|O15283|Q15820|Q15821|Q75MU3|Q9Y5Q1	Missense_Mutation	SNP	ENST00000336180.2	37	c.691G>T	CCDS5563.1	.	.	.	.	.	.	.	.	.	.	G	32	5.128110	0.94473	.	.	ENSG00000106683	ENST00000418310;ENST00000419043;ENST00000336180;ENST00000423685;ENST00000538333	T;T;T;T	0.67523	-0.27;-0.27;1.02;-0.27	5.59	5.59	0.84812	PDZ/DHR/GLGF (4);	0.061993	0.64402	D	0.000004	T	0.79627	0.4478	L	0.56769	1.78	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79784	0.993;0.986	T	0.80683	-0.1273	10	0.72032	D	0.01	-47.8743	17.1444	0.86762	0.0:0.0:1.0:0.0	.	167;201	B7Z6I8;P53667	.;LIMK1_HUMAN	F	231;201;201;167;167	ENSP00000409717:V231F;ENSP00000336740:V201F;ENSP00000396480:V167F;ENSP00000444452:V167F	ENSP00000336740:V201F	V	+	1	0	LIMK1	73151497	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.209000	0.77916	2.660000	0.90430	0.644000	0.83932	GTC		0.647	LIMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252335.2	NM_002314		32	163	1	0	4.3181e-19	1	4.62112e-19	32	163				
MTMR1	8776	broad.mit.edu	37	X	149905114	149905114	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chrX:149905114A>T	ENST00000370390.3	+	10	1261	c.1104A>T	c.(1102-1104)gaA>gaT	p.E368D	MTMR1_ENST00000538506.1_Intron|MTMR1_ENST00000544228.1_Missense_Mutation_p.E368D|MTMR1_ENST00000451863.2_Missense_Mutation_p.E368D|MTMR1_ENST00000541925.1_Missense_Mutation_p.E274D|MTMR1_ENST00000445323.2_Missense_Mutation_p.E376D	NM_003828.2	NP_003819.1	Q13613	MTMR1_HUMAN	myotubularin related protein 1	368	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CAAATGCAGAACTTGTGTTCT	0.403																																						ENST00000445323.2																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23						c.(1126-1128)gaA>gaT		myotubularin related protein 1							175.0	139.0	151.0					X																	149905114		2203	4300	6503	SO:0001583	missense	8776					plasma membrane	protein tyrosine phosphatase activity	g.chrX:149905114A>T	U58032	CCDS14695.1	Xq28	2011-06-09			ENSG00000063601	ENSG00000063601		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7449	protein-coding gene	gene with protein product		300171				9828128	Standard	XM_005274765		Approved		uc004fei.3	Q13613	OTTHUMG00000024159	ENST00000370390.3:c.1104A>T	X.37:g.149905114A>T	ENSP00000359417:p.Glu368Asp					MTMR1_ENST00000538506.1_Intron|MTMR1_ENST00000451863.2_Missense_Mutation_p.E368D|MTMR1_ENST00000541925.1_Missense_Mutation_p.E274D|MTMR1_ENST00000544228.1_Missense_Mutation_p.E368D|MTMR1_ENST00000370390.3_Missense_Mutation_p.E368D	p.E376D			Q13613	MTMR1_HUMAN			11	1249	+	Acute lymphoblastic leukemia(192;6.56e-05)		368			Myotubularin phosphatase.|Substrate binding (By similarity).		A0A024RC07|Q9UBX6|Q9UEM0|Q9UQD5	Missense_Mutation	SNP	ENST00000370390.3	37	c.1128A>T	CCDS14695.1	.	.	.	.	.	.	.	.	.	.	A	13.67	2.305039	0.40795	.	.	ENSG00000063601	ENST00000541925;ENST00000370390;ENST00000445323;ENST00000544228;ENST00000451863	D;D;D;D;D	0.90955	-2.76;-2.76;-2.76;-2.76;-2.76	5.26	-4.12	0.03916	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.000000	0.85682	D	0.000000	D	0.90964	0.7159	M	0.82716	2.605	0.80722	D	1	B;B	0.28636	0.218;0.022	B;B	0.35655	0.207;0.015	T	0.80165	-0.1496	10	0.52906	T	0.07	.	18.3439	0.90314	0.143:0.0:0.857:0.0	.	368;376	Q13613;F8WA39	MTMR1_HUMAN;.	D	274;368;376;368;368	ENSP00000441879:E274D;ENSP00000359417:E368D;ENSP00000414178:E376D;ENSP00000440534:E368D;ENSP00000387446:E368D	ENSP00000359417:E368D	E	+	3	2	MTMR1	149655772	0.994000	0.37717	0.010000	0.14722	0.481000	0.33189	0.375000	0.20518	-1.247000	0.02507	-0.377000	0.06932	GAA		0.403	MTMR1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060863.2	NM_003828, NM_176789		40	43	0	0	0	1	0	40	43				
PELP1	27043	broad.mit.edu	37	17	4579733	4579733	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr17:4579733C>T	ENST00000574876.1	-	7	789	c.772G>A	c.(772-774)Gag>Aag	p.E258K	PELP1_ENST00000301396.4_Missense_Mutation_p.E258K|AC091153.4_ENST00000441700.2_RNA|PELP1_ENST00000436683.2_Missense_Mutation_p.E111K|PELP1_ENST00000269230.7_Missense_Mutation_p.E258K|PELP1_ENST00000572293.1_Missense_Mutation_p.E308K			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	258					cellular response to estrogen stimulus (GO:0071391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						TCCCAGCTCTCGGTGTGCTTC	0.607																																						ENST00000301396.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						c.(772-774)Gag>Aag		proline, glutamate and leucine rich protein 1							41.0	44.0	43.0					17																	4579733		1977	4153	6130	SO:0001583	missense	27043				transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding	g.chr17:4579733C>T		CCDS58503.1, CCDS58503.2, CCDS62038.1	17p13.2	2012-05-02	2008-02-21			ENSG00000141456			30134	protein-coding gene	gene with protein product		609455	"""proline, glutamic acid and leucine rich protein 1"""			11481323, 12682072	Standard	NM_014389		Approved	MNAR	uc002fyi.4	Q8IZL8		ENST00000574876.1:c.772G>A	17.37:g.4579733C>T	ENSP00000461625:p.Glu258Lys					PELP1_ENST00000574876.1_Missense_Mutation_p.E258K|AC091153.4_ENST00000441700.2_RNA|PELP1_ENST00000436683.2_Missense_Mutation_p.E111K|PELP1_ENST00000269230.7_Missense_Mutation_p.E258K|PELP1_ENST00000572293.1_Missense_Mutation_p.E308K	p.E258K			Q8IZL8	PELP1_HUMAN			7	997	-			258					O15450|Q5EGN3|Q6NTE6|Q96FT1|Q9BU60	Missense_Mutation	SNP	ENST00000574876.1	37	c.772G>A	CCDS58503.1	.	.	.	.	.	.	.	.	.	.	C	9.287	1.049728	0.19827	.	.	ENSG00000141456	ENST00000301396;ENST00000269230;ENST00000436683	T;T;T	0.66460	0.76;-0.21;1.39	5.31	4.33	0.51752	.	0.190261	0.43416	D	0.000566	T	0.51958	0.1705	L	0.50333	1.59	0.31718	N	0.638708	P;P	0.41710	0.76;0.76	B;B	0.22152	0.038;0.038	T	0.62201	-0.6904	10	0.32370	T	0.25	-7.6358	13.1228	0.59336	0.1613:0.8387:0.0:0.0	.	111;258	E7EV54;Q8IZL8	.;PELP1_HUMAN	K	258;258;111	ENSP00000301396:E258K;ENSP00000269230:E258K;ENSP00000416231:E111K	ENSP00000269230:E258K	E	-	1	0	AC091153.1	4526482	1.000000	0.71417	0.885000	0.34714	0.002000	0.02628	6.010000	0.70753	1.464000	0.47987	-0.187000	0.12897	GAG		0.607	PELP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000439140.2	NM_014389		25	29	0	0	0	1	0	25	29				
CCDC185	164127	broad.mit.edu	37	1	223567220	223567220	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr1:223567220T>A	ENST00000366875.3	+	1	506	c.403T>A	c.(403-405)Tgc>Agc	p.C135S		NM_152610.2	NP_689823.2	Q8N715	CC185_HUMAN		135	Pro-rich.									breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		GCCGCAGCCCTGCCCGCATTA	0.701																																						ENST00000366875.3																			0				breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29						c.(403-405)Tgc>Agc		chromosome 1 open reading frame 65							7.0	10.0	9.0					1																	223567220		2134	4250	6384	SO:0001583	missense	164127							g.chr1:223567220T>A																												ENST00000366875.3:c.403T>A	1.37:g.223567220T>A	ENSP00000355840:p.Cys135Ser						p.C135S	NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN		GBM - Glioblastoma multiforme(131;0.0704)	1	506	+			135			Pro-rich.		Q8N746|Q8NA93	Missense_Mutation	SNP	ENST00000366875.3	37	c.403T>A	CCDS1537.1	.	.	.	.	.	.	.	.	.	.	T	6.063	0.379922	0.11466	.	.	ENSG00000178395	ENST00000366875	T	0.14391	2.51	4.2	0.227	0.15359	.	.	.	.	.	T	0.04137	0.0115	N	0.04880	-0.145	0.09310	N	1	B	0.21606	0.058	B	0.14023	0.01	T	0.41698	-0.9494	9	0.06494	T	0.89	.	2.1932	0.03905	0.1605:0.0972:0.1542:0.588	.	135	Q8N715	CA065_HUMAN	S	135	ENSP00000355840:C135S	ENSP00000355840:C135S	C	+	1	0	C1orf65	221633843	0.000000	0.05858	0.119000	0.21687	0.335000	0.28730	-1.858000	0.01659	0.082000	0.17018	0.528000	0.53228	TGC		0.701	C1orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092718.1			6	7	0	0	0	1	0	6	7				
ZNF7	7553	broad.mit.edu	37	8	146068294	146068294	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr8:146068294G>A	ENST00000528372.1	+	5	2042	c.1802G>A	c.(1801-1803)aGa>aAa	p.R601K	ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000446747.2_Missense_Mutation_p.R612K|ZNF7_ENST00000544249.1_Missense_Mutation_p.R505K|ZNF7_ENST00000325241.6_Missense_Mutation_p.R601K			P17097	ZNF7_HUMAN	zinc finger protein 7	601					multicellular organismal development (GO:0007275)|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)			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		GAACACCAGAGAATACACACT	0.453																																						ENST00000528372.1																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1801-1803)aGa>aAa		zinc finger protein 7							78.0	83.0	81.0					8																	146068294		2203	4300	6503	SO:0001583	missense	7553				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146068294G>A	AB209619	CCDS6435.1, CCDS64996.1, CCDS64998.1, CCDS64999.1	8q24	2013-01-08	2006-05-09		ENSG00000147789	ENSG00000147789		"""Zinc fingers, C2H2-type"", ""-"""	13139	protein-coding gene	gene with protein product		194531	"""zinc finger protein 7 (KOX 4, clone HF.16)"""			2106481, 1946370	Standard	NM_003416		Approved	KOX4, HF.16	uc003zeg.4	P17097	OTTHUMG00000165200	ENST00000528372.1:c.1802G>A	8.37:g.146068294G>A	ENSP00000432724:p.Arg601Lys					ZNF7_ENST00000544249.1_Missense_Mutation_p.R505K|ZNF7_ENST00000325241.6_Missense_Mutation_p.R601K|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000446747.2_Missense_Mutation_p.R612K|ZNF7_ENST00000525266.1_Intron	p.R601K			P17097	ZNF7_HUMAN	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)	5	2042	+	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	601					B4DT08|D3DWN6|P17015|Q8N8Y4	Missense_Mutation	SNP	ENST00000528372.1	37	c.1802G>A	CCDS6435.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582153	0.65992	.	.	ENSG00000147789	ENST00000325241;ENST00000446747;ENST00000544249;ENST00000528372	T;T;T;T	0.54675	0.56;0.56;0.56;0.56	4.45	3.5	0.40072	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45126	D	0.000385	T	0.30572	0.0769	N	0.05050	-0.12	0.80722	D	1	B;B	0.27264	0.173;0.173	B;B	0.33295	0.161;0.161	T	0.10800	-1.0614	9	.	.	.	-19.243	11.4116	0.49929	0.0:0.0:0.729:0.271	.	612;601	B4DT08;P17097	.;ZNF7_HUMAN	K	601;612;505;601	ENSP00000320627:R601K;ENSP00000393260:R612K;ENSP00000439424:R505K;ENSP00000432724:R601K	.	R	+	2	0	ZNF7	146039098	0.001000	0.12720	1.000000	0.80357	0.949000	0.60115	1.137000	0.31479	2.462000	0.83206	0.655000	0.94253	AGA		0.453	ZNF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382660.1	NM_003416		37	70	0	0	0	1	0	37	70				
TTN	7273	broad.mit.edu	37	2	179598483	179598483	+	Silent	SNP	G	G	A	rs534365478		TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr2:179598483G>A	ENST00000591111.1	-	51	14906	c.14682C>T	c.(14680-14682)gaC>gaT	p.D4894D	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Silent_p.D5211D|TTN_ENST00000342992.6_Silent_p.D3967D|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12286	Ig-like 29.				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)			TGATTTTTCCGTCTTCTCTGA	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		18451	0.0		0.0	False		,,,				2504	0.001					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.(15631-15633)gaC>gaT		titin							199.0	188.0	191.0					2																	179598483		1908	4141	6049	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179598483G>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.14682C>T	2.37:g.179598483G>A						TTN_ENST00000591111.1_Silent_p.D4894D|TTN_ENST00000342992.6_Silent_p.D3967D|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron	p.D5211D	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)		53	15857	-			4894			Ig-like 32.		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	Silent	SNP	ENST00000591111.1	37	c.15633C>T																																																																																					0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	124	0	0	0	1	0	6	124				
ZMYM3	9203	broad.mit.edu	37	X	70469386	70469386	+	Silent	SNP	A	A	G			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chrX:70469386A>G	ENST00000353904.2	-	7	1582	c.1395T>C	c.(1393-1395)ccT>ccC	p.P465P	ZMYM3_ENST00000373988.1_Silent_p.P467P|ZMYM3_ENST00000373984.3_Silent_p.P467P|ZMYM3_ENST00000373998.1_Silent_p.P465P|ZMYM3_ENST00000314425.5_Silent_p.P465P|ZMYM3_ENST00000373978.1_3'UTR|ZMYM3_ENST00000373981.1_Silent_p.P465P|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373982.1_Silent_p.P467P	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	465					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					GCTCAGGGCCAGGACTCCCGG	0.557																																						ENST00000373998.1																			0				breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(1393-1395)ccT>ccC		zinc finger, MYM-type 3							116.0	80.0	92.0					X																	70469386		2203	4300	6503	SO:0001819	synonymous_variant	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70469386A>G	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.1395T>C	X.37:g.70469386A>G						ZMYM3_ENST00000373988.1_Silent_p.P467P|ZMYM3_ENST00000314425.5_Silent_p.P465P|ZMYM3_ENST00000373978.1_3'UTR|ZMYM3_ENST00000373982.1_Silent_p.P467P|ZMYM3_ENST00000353904.2_Silent_p.P465P|ZMYM3_ENST00000373984.3_Silent_p.P467P|ZMYM3_ENST00000373981.1_Silent_p.P465P|ZMYM3_ENST00000489332.1_5'UTR	p.P465P	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN			7	2092	-	Renal(35;0.156)		465					D3DVV3|O15089|Q96E26	Silent	SNP	ENST00000353904.2	37	c.1395T>C	CCDS14409.1																																																																																				0.557	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		6	8	0	0	0	1	0	6	8				
WDR78	79819	broad.mit.edu	37	1	67292589	67292589	+	Silent	SNP	G	G	A	rs369539029		TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr1:67292589G>A	ENST00000371026.3	-	15	2308	c.2253C>T	c.(2251-2253)taC>taT	p.Y751Y	WDR78_ENST00000431318.1_Silent_p.Y464Y|RP11-342H21.2_ENST00000456389.1_RNA	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	751					hematopoietic progenitor cell differentiation (GO:0002244)			p.Y751Y(1)		NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						AGGCAACGTCGTAAACAACAG	0.393																																						ENST00000371026.3																			1	Substitution - coding silent(1)	p.Y751Y(1)	kidney(1)	NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						c.(2251-2253)taC>taT		WD repeat domain 78		G		1,4405	2.1+/-5.4	0,1,2202	116.0	117.0	117.0		2253	0.2	1.0	1		117	0,8600		0,0,4300	no	coding-synonymous	WDR78	NM_024763.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		751/849	67292589	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79819							g.chr1:67292589G>A	BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"""WD repeat domain containing"""	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.2253C>T	1.37:g.67292589G>A						WDR78_ENST00000431318.1_Silent_p.Y464Y	p.Y751Y	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN			15	2308	-			751					A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Silent	SNP	ENST00000371026.3	37	c.2253C>T	CCDS635.1																																																																																				0.393	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	NM_024763		58	48	0	0	0	1	0	58	48				
KRTAP4-11	653240	broad.mit.edu	37	17	39274291	39274291	+	Missense_Mutation	SNP	T	T	C	rs200214744|rs565505867	byFrequency	TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	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			7	40	0	0	0	1	0	7	40				
CSHL1	1444	broad.mit.edu	37	17	61987185	61987185	+	Silent	SNP	G	G	A			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr17:61987185G>A	ENST00000309894.5	-	5	554	c.555C>T	c.(553-555)gaC>gaT	p.D185D	CSHL1_ENST00000561003.1_3'UTR|CSHL1_ENST00000346606.6_Silent_p.D91D|CSHL1_ENST00000450719.3_3'UTR|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000259003.10_Silent_p.D123D|CSHL1_ENST00000438387.2_Silent_p.D102D	NM_022579.1	NP_072101.1	Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	185						extracellular region (GO:0005576)	hormone activity (GO:0005179)|metal ion binding (GO:0046872)			endometrium(3)|lung(6)	9						TGAGCAGTGCGTCATGGTTGT	0.567																																						ENST00000259003.10																			0				endometrium(3)|lung(6)	9						c.(367-369)gaC>gaT		chorionic somatomammotropin hormone-like 1							223.0	197.0	206.0					17																	61987185		2203	4300	6503	SO:0001819	synonymous_variant	1444					extracellular region	hormone activity|metal ion binding	g.chr17:61987185G>A	BC029365	CCDS11652.1, CCDS42370.1, CCDS45759.1	17q22-q24	2012-10-02							2442	protein-coding gene	gene with protein product	"""chorionic somatomammotropin CS-5"""	603515		CSHP1		8083227	Standard	NM_001318		Approved	hCS-L, CSL, CS-5, MGC149868	uc002jda.1	Q14406		ENST00000309894.5:c.555C>T	17.37:g.61987185G>A						CSHL1_ENST00000561003.1_3'UTR|CSHL1_ENST00000450719.3_3'UTR|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000346606.6_Silent_p.D91D|CSHL1_ENST00000309894.5_Silent_p.D185D|CSHL1_ENST00000438387.2_Silent_p.D102D	p.D123D			Q14406	CSHL_HUMAN			5	513	-			185					D3DU26|D3DU27|Q0VDB2	Silent	SNP	ENST00000309894.5	37	c.369C>T	CCDS11652.1																																																																																				0.567	CSHL1-009	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444557.1	NM_022579		6	163	0	0	0	1	0	6	163				
CFAP36	112942	broad.mit.edu	37	2	55750876	55750876	+	Missense_Mutation	SNP	G	G	T	rs546758435	byFrequency	TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr2:55750876G>T	ENST00000349456.4	+	3	348	c.200G>T	c.(199-201)gGt>gTt	p.G67V	CCDC104_ENST00000406691.3_Missense_Mutation_p.G67V|CCDC104_ENST00000407816.3_Missense_Mutation_p.G67V|CCDC104_ENST00000339012.3_Missense_Mutation_p.G92V|CCDC104_ENST00000403007.3_Missense_Mutation_p.G67V			Q96G28	CFA36_HUMAN		67										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CTGTTAGAAGGTTACCTCAAA	0.294													G|||	3	0.000599042	0.0	0.0	5008	,	,		16320	0.0		0.0	False		,,,				2504	0.0031					ENST00000349456.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14						c.(199-201)gGt>gTt		coiled-coil domain containing 104							80.0	76.0	78.0					2																	55750876		2203	4299	6502	SO:0001583	missense	112942							g.chr2:55750876G>T																												ENST00000349456.4:c.200G>T	2.37:g.55750876G>T	ENSP00000295117:p.Gly67Val					CCDC104_ENST00000339012.3_Missense_Mutation_p.G92V|CCDC104_ENST00000407816.3_Missense_Mutation_p.G67V|CCDC104_ENST00000406691.3_Missense_Mutation_p.G67V|CCDC104_ENST00000403007.3_Missense_Mutation_p.G67V	p.G67V			Q96G28	CC104_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		3	348	+			67					Q53SF0|Q53ST9|Q6UY34	Missense_Mutation	SNP	ENST00000349456.4	37	c.200G>T	CCDS1854.2	.	.	.	.	.	.	.	.	.	.	G	10.26	1.301550	0.23736	.	.	ENSG00000163001	ENST00000339012;ENST00000406691;ENST00000349456;ENST00000407816;ENST00000403007	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	5.7	2.93	0.34026	ADP-ribosylation factor-like 2-binding protein, domain (2);	0.524747	0.25052	N	0.033514	T	0.30070	0.0753	L	0.38175	1.15	0.34119	D	0.663915	B;B	0.32573	0.036;0.376	B;B	0.32980	0.119;0.156	T	0.35226	-0.9797	10	0.49607	T	0.09	.	6.4265	0.21772	0.2636:0.1211:0.6153:0.0	.	67;92	Q96G28;Q96G28-2	CC104_HUMAN;.	V	92;67;67;67;67	ENSP00000342699:G92V;ENSP00000385400:G67V;ENSP00000295117:G67V;ENSP00000385376:G67V;ENSP00000385972:G67V	ENSP00000342699:G92V	G	+	2	0	CCDC104	55604380	1.000000	0.71417	0.929000	0.37066	0.666000	0.39218	3.315000	0.51951	0.355000	0.24131	-0.793000	0.03317	GGT		0.294	CCDC104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319610.2			5	48	1	0	0.000602214	1	0.000622628	5	48				
OR4A5	81318	broad.mit.edu	37	11	51411540	51411540	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr11:51411540A>T	ENST00000319760.6	-	1	908	c.856T>A	c.(856-858)Ttg>Atg	p.L286M		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	286						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				GAATTTCTCAACGTATATATT	0.333																																						ENST00000319760.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49						c.(856-858)Ttg>Atg		olfactory receptor, family 4, subfamily A, member 5							34.0	35.0	35.0					11																	51411540		2201	4293	6494	SO:0001583	missense	81318				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51411540A>T	AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"""GPCR / Class A : Olfactory receptors"""	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.856T>A	11.37:g.51411540A>T	ENSP00000367664:p.Leu286Met						p.L286M	NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN			1	908	-		all_lung(304;0.236)	286					Q6IF84	Missense_Mutation	SNP	ENST00000319760.6	37	c.856T>A	CCDS31497.1	.	.	.	.	.	.	.	.	.	.	.	2.980	-0.210506	0.06140	.	.	ENSG00000221840	ENST00000319760	T	0.48836	0.8	2.2	-2.09	0.07232	.	0.000000	0.36893	N	0.002346	T	0.35248	0.0925	M	0.64404	1.975	0.18873	N	0.999989	P	0.43287	0.802	B	0.39562	0.303	T	0.31806	-0.9930	10	0.87932	D	0	.	2.7716	0.05336	0.5257:0.0:0.2764:0.198	.	286	Q8NH83	OR4A5_HUMAN	M	286	ENSP00000367664:L286M	ENSP00000367664:L286M	L	-	1	2	OR4A5	51268116	0.057000	0.20700	0.056000	0.19401	0.108000	0.19459	0.325000	0.19628	-0.471000	0.06891	0.136000	0.15936	TTG		0.333	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272		3	56	0	0	0	1	0	3	56				
FGD5	152273	broad.mit.edu	37	3	14922109	14922109	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr3:14922109G>A	ENST00000285046.5	+	3	2799	c.2689G>A	c.(2689-2691)Gca>Aca	p.A897T	FGD5_ENST00000543601.1_Missense_Mutation_p.A656T	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	897	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CCTTGTCATCGCACAGGAACT	0.542																																						ENST00000285046.5																			0				NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						c.(2689-2691)Gca>Aca		FYVE, RhoGEF and PH domain containing 5							76.0	77.0	77.0					3																	14922109		2072	4200	6272	SO:0001583	missense	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14922109G>A	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.2689G>A	3.37:g.14922109G>A	ENSP00000285046:p.Ala897Thr					FGD5_ENST00000543601.1_Missense_Mutation_p.A656T	p.A897T	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN			3	2799	+			897			DH.		B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	c.2689G>A	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.623500	0.87460	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.63913	-0.07;-0.07	4.99	4.99	0.66335	Dbl homology (DH) domain (5);	0.000000	0.53938	D	0.000060	T	0.77205	0.4096	M	0.66297	2.02	0.47341	D	0.999393	D;D	0.89917	1.0;1.0	D;D	0.72625	0.97;0.978	T	0.80132	-0.1510	10	0.87932	D	0	-17.3609	16.0595	0.80830	0.0:0.0:1.0:0.0	.	656;897	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	T	897;656	ENSP00000285046:A897T;ENSP00000445949:A656T	ENSP00000285046:A897T	A	+	1	0	FGD5	14897113	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.978000	0.70501	2.311000	0.77944	0.313000	0.20887	GCA		0.542	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		5	30	0	0	0	1	0	5	30				
GBGT1	26301	broad.mit.edu	37	9	136029210	136029210	+	Silent	SNP	C	C	T			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr9:136029210C>T	ENST00000372040.3	-	7	1109	c.798G>A	c.(796-798)ggG>ggA	p.G266G	GBGT1_ENST00000540636.1_Silent_p.G249G|RALGDS_ENST00000542690.1_Intron|GBGT1_ENST00000372043.3_Missense_Mutation_p.G260E|GBGT1_ENST00000472281.1_5'UTR	NM_001282629.1	NP_001269558.1	Q8N5D6	GBGT1_HUMAN	globoside alpha-1,3-N-acetylgalactosaminyltransferase 1	266					glycolipid biosynthetic process (GO:0009247)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	globoside alpha-N-acetylgalactosaminyltransferase activity (GO:0047277)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(4)|lung(2)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)		CCACCTGCCCCCCGAAGACTG	0.612																																						ENST00000372043.3																			0				breast(2)|endometrium(1)|kidney(4)|lung(2)|skin(1)	10						c.(778-780)gGg>gAg		globoside alpha-1,3-N-acetylgalactosaminyltransferase 1							68.0	69.0	69.0					9																	136029210		2203	4300	6503	SO:0001819	synonymous_variant	26301							g.chr9:136029210C>T	AY358175	CCDS6960.1, CCDS65175.1, CCDS65176.1	9q34.13-q34.3	2014-07-18			ENSG00000148288	ENSG00000148288		"""Glycosyltransferase family 6 domain containing"""	20460	protein-coding gene	gene with protein product	"""Forssman glycolipid synthetase (FS)"", ""Forssman synthetase"""	606074				10506200, 8855242	Standard	NM_021996		Approved	UDP-GalNAc, A3GALNT, MGC44848, FS		Q8N5D6	OTTHUMG00000020853	ENST00000372040.3:c.798G>A	9.37:g.136029210C>T						GBGT1_ENST00000372040.3_Silent_p.G266G|GBGT1_ENST00000540636.1_Silent_p.G249G|RALGDS_ENST00000542690.1_Intron|GBGT1_ENST00000472281.1_5'UTR	p.G260E	NM_021996.4	NP_068836.2				OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)	7	1064	-								A8K633|B2RA95|B7Z8S5|Q45F07|Q5T7U9|Q5T7V1|Q8N2K4|Q9UKI5	Missense_Mutation	SNP	ENST00000372040.3	37	c.779G>A	CCDS6960.1	.	.	.	.	.	.	.	.	.	.	C	4.818	0.152157	0.09185	.	.	ENSG00000148288	ENST00000372043	T	0.27104	1.69	5.25	-1.72	0.08107	.	0.000000	0.85682	D	0.000000	T	0.28067	0.0692	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.10200	-1.0640	7	0.87932	D	0	-9.7844	3.8424	0.08920	0.2829:0.2413:0.0:0.4758	.	.	.	.	E	260	ENSP00000361113:G260E	ENSP00000361113:G260E	G	-	2	0	GBGT1	135019031	0.027000	0.19231	0.894000	0.35097	0.178000	0.23041	-1.005000	0.03674	-0.056000	0.13221	-0.291000	0.09656	GGG		0.612	GBGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054815.1	NM_021996		35	111	0	0	0	1	0	35	111				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			33	44	0	0	0	1	0	33	44				
PEX11A	8800	broad.mit.edu	37	15	90226670	90226670	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr15:90226670C>A	ENST00000300056.3	-	3	831	c.682G>T	c.(682-684)Gtg>Ttg	p.V228L	PEX11A_ENST00000561257.1_Missense_Mutation_p.V197L|PEX11A_ENST00000557982.1_Intron|PEX11A_ENST00000561224.1_Intron|PEX11A_ENST00000559170.1_3'UTR	NM_001271573.1	NP_001258502.1	O75192	PX11A_HUMAN	peroxisomal biogenesis factor 11 alpha	228					brown fat cell differentiation (GO:0050873)|cellular lipid metabolic process (GO:0044255)|peroxisome fission (GO:0016559)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|regulation of peroxisome size (GO:0044375)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	integral component of peroxisomal membrane (GO:0005779)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(2)|lung(3)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			ATAGAGGACACAAGACCTCCA	0.463																																						ENST00000300056.3																			0				endometrium(2)|large_intestine(2)|lung(3)	7						c.(682-684)Gtg>Ttg		peroxisomal biogenesis factor 11 alpha							244.0	245.0	245.0					15																	90226670		2200	4299	6499	SO:0001583	missense	8800				cellular lipid metabolic process|peroxisome fission|signal transduction	integral to peroxisomal membrane		g.chr15:90226670C>A	AF093668	CCDS10354.1, CCDS61751.1	15q	2008-08-26	2008-08-26		ENSG00000166821	ENSG00000166821			8852	protein-coding gene	gene with protein product		603866	"""peroxisomal biogenesis factor 11A"""			9792670	Standard	NM_003847		Approved	PEX11-ALPHA, MGC119947, MGC138534	uc002boi.4	O75192	OTTHUMG00000149809	ENST00000300056.3:c.682G>T	15.37:g.90226670C>A	ENSP00000300056:p.Val228Leu					PEX11A_ENST00000557982.1_Intron|PEX11A_ENST00000561224.1_Intron|PEX11A_ENST00000561257.1_Missense_Mutation_p.V197L|PEX11A_ENST00000559170.1_3'UTR	p.V228L	NM_001271573.1	NP_001258502.1	O75192	PX11A_HUMAN	KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)		3	831	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		228					B4DV88	Missense_Mutation	SNP	ENST00000300056.3	37	c.682G>T	CCDS10354.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.981310	0.34942	.	.	ENSG00000166821	ENST00000300056	T	0.46819	0.86	5.22	2.09	0.27110	.	0.258172	0.40064	N	0.001181	T	0.32763	0.0840	L	0.42245	1.32	0.80722	D	1	B	0.10296	0.003	B	0.16289	0.015	T	0.07046	-1.0793	10	0.18710	T	0.47	-4.7172	6.0233	0.19640	0.1158:0.6306:0.1704:0.0833	.	228	O75192	PX11A_HUMAN	L	228	ENSP00000300056:V228L	ENSP00000300056:V228L	V	-	1	0	PEX11A	88027674	0.020000	0.18652	0.647000	0.29507	0.983000	0.72400	0.238000	0.18004	0.739000	0.32628	0.655000	0.94253	GTG		0.463	PEX11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313420.1	NM_003847		5	280	1	0	0.00198382	1	0.00201688	5	280				
PAQR8	85315	broad.mit.edu	37	6	52268806	52268806	+	Silent	SNP	C	C	T			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr6:52268806C>T	ENST00000442253.2	+	2	969	c.795C>T	c.(793-795)ccC>ccT	p.P265P	PAQR8_ENST00000360726.3_Silent_p.P265P	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	265					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)	p.P265P(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					TCTCCTGCCCCGTGCCTGAGA	0.577																																						ENST00000442253.2																			1	Substitution - coding silent(1)	p.P265P(1)	kidney(1)	endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17						c.(793-795)ccC>ccT		progestin and adipoQ receptor family member VIII							121.0	107.0	112.0					6																	52268806		2203	4300	6503	SO:0001819	synonymous_variant	85315				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	g.chr6:52268806C>T	AF347029	CCDS4941.1	6p12	2012-08-10	2005-05-20	2005-05-20	ENSG00000170915	ENSG00000170915			15708	protein-coding gene	gene with protein product		607780	"""chromosome 6 open reading frame 33"""	C6orf33		11676489, 12574519	Standard	NM_133367		Approved	LMPB1, MPRB	uc003pao.4	Q8TEZ7	OTTHUMG00000014846	ENST00000442253.2:c.795C>T	6.37:g.52268806C>T						PAQR8_ENST00000360726.3_Silent_p.P265P	p.P265P	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN			2	969	+	Lung NSC(77;0.0875)		265					B2RCF6|Q86WL0|Q8N6D3|Q9HD02	Silent	SNP	ENST00000442253.2	37	c.795C>T	CCDS4941.1																																																																																				0.577	PAQR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040903.2	NM_133367		26	24	0	0	0	1	0	26	24				
CKAP2L	150468	broad.mit.edu	37	2	113513993	113513993	+	Missense_Mutation	SNP	G	G	A	rs200765044		TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr2:113513993G>A	ENST00000302450.6	-	4	1033	c.955C>T	c.(955-957)Cgg>Tgg	p.R319W	CKAP2L_ENST00000541405.1_Missense_Mutation_p.R154W|CKAP2L_ENST00000481732.1_5'Flank	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	319						centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						GGGTATGACCGTATCTTAGTT	0.378																																						ENST00000541405.1																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						c.(460-462)Cgg>Tgg		cytoskeleton associated protein 2-like		G	TRP/ARG	5,4401	9.9+/-24.2	0,5,2198	146.0	141.0	143.0		955	1.9	0.0	2		143	0,8600		0,0,4300	yes	missense	CKAP2L	NM_152515.3	101	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	possibly-damaging	319/746	113513993	5,13001	2203	4300	6503	SO:0001583	missense	150468					centrosome		g.chr2:113513993G>A	AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.955C>T	2.37:g.113513993G>A	ENSP00000305204:p.Arg319Trp					CKAP2L_ENST00000302450.6_Missense_Mutation_p.R319W	p.R154W			Q8IYA6	CKP2L_HUMAN			4	983	-			319					A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Missense_Mutation	SNP	ENST00000302450.6	37	c.460C>T	CCDS2100.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.857980	0.32791	0.001135	0.0	ENSG00000169607	ENST00000541405;ENST00000302450	T;T	0.13901	2.55;3.2	4.69	1.92	0.25849	.	1.267280	0.05516	N	0.561267	T	0.08358	0.0208	N	0.22421	0.69	0.09310	N	1	D	0.54772	0.968	B	0.36186	0.219	T	0.28839	-1.0031	10	0.51188	T	0.08	0.1851	5.3791	0.16181	0.1799:0.1639:0.6562:0.0	.	319	Q8IYA6	CKP2L_HUMAN	W	154;319	ENSP00000438763:R154W;ENSP00000305204:R319W	ENSP00000305204:R319W	R	-	1	2	CKAP2L	113230464	0.001000	0.12720	0.000000	0.03702	0.100000	0.18952	0.696000	0.25541	0.451000	0.26802	-0.203000	0.12734	CGG		0.378	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254082.2	NM_152515		4	134	0	0	0	1	0	4	134				
PRDM9	56979	broad.mit.edu	37	5	23526937	23526937	+	Nonsense_Mutation	SNP	T	T	G			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr5:23526937T>G	ENST00000296682.3	+	11	1922	c.1740T>G	c.(1738-1740)taT>taG	p.Y580*		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	580					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGAAGCCCTATGTCTGCAGGG	0.592										HNSCC(3;0.000094)																												ENST00000296682.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(1738-1740)taT>taG		PR domain containing 9							57.0	63.0	61.0					5																	23526937		2185	4295	6480	SO:0001587	stop_gained	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23526937T>G	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1740T>G	5.37:g.23526937T>G	ENSP00000296682:p.Tyr580*	HNSCC(3;0.000094)					p.Y580*	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			11	1922	+			580					B4DX22|Q27Q50	Nonsense_Mutation	SNP	ENST00000296682.3	37	c.1740T>G	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	T	30	5.056374	0.93793	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	.	.	.	2.31	1.07	0.20283	.	0.303464	0.18174	N	0.149380	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.9678	6.0743	0.19907	0.0:0.2823:0.0:0.7177	.	.	.	.	X	580;346	.	ENSP00000253473:Y346X	Y	+	3	2	PRDM9	23562694	0.000000	0.05858	0.955000	0.39395	0.672000	0.39443	-0.764000	0.04735	-0.062000	0.13088	-1.558000	0.00888	TAT		0.592	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		46	54	0	0	0	1	0	46	54				
DMD	1756	broad.mit.edu	37	X	32456373	32456373	+	Silent	SNP	C	C	T			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chrX:32456373C>T	ENST00000357033.4	-	29	4262	c.4056G>A	c.(4054-4056)agG>agA	p.R1352R	DMD_ENST00000378677.2_Silent_p.R1348R	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1352					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CATGTAGTTCCCTCCAACGAG	0.383																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(4054-4056)agG>agA		dystrophin							106.0	90.0	95.0					X																	32456373		2202	4300	6502	SO:0001819	synonymous_variant	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32456373C>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.4056G>A	X.37:g.32456373C>T						DMD_ENST00000378677.2_Silent_p.R1348R	p.R1352R	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			29	4262	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	1352					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	37	c.4056G>A	CCDS14233.1																																																																																				0.383	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		4	95	0	0	0	1	0	4	95				
OR5M9	390162	broad.mit.edu	37	11	56230565	56230565	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr11:56230565C>T	ENST00000279791.1	-	1	312	c.313G>A	c.(313-315)Gtt>Att	p.V105I		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	105						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(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					ACGTGGACAACGGCAATGAAA	0.473																																						ENST00000279791.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36						c.(313-315)Gtt>Att		olfactory receptor, family 5, subfamily M, member 9							129.0	121.0	124.0					11																	56230565		2201	4296	6497	SO:0001583	missense	390162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56230565C>T	AB065747	CCDS31531.1	11q11	2012-08-09			ENSG00000150269	ENSG00000150269		"""GPCR / Class A : Olfactory receptors"""	15294	protein-coding gene	gene with protein product							Standard	NM_001004743		Approved		uc010rjj.2	Q8NGP3	OTTHUMG00000166874	ENST00000279791.1:c.313G>A	11.37:g.56230565C>T	ENSP00000279791:p.Val105Ile						p.V105I	NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN			1	312	-	Esophageal squamous(21;0.00448)		105					Q6IEW5|Q96RB9	Missense_Mutation	SNP	ENST00000279791.1	37	c.313G>A	CCDS31531.1	.	.	.	.	.	.	.	.	.	.	C	8.903	0.956894	0.18507	.	.	ENSG00000150269	ENST00000279791	T	0.01323	5.01	4.49	1.53	0.23141	GPCR, rhodopsin-like superfamily (1);	0.177136	0.27311	N	0.019943	T	0.00998	0.0033	N	0.19112	0.55	0.09310	N	1	B	0.22746	0.074	B	0.14578	0.011	T	0.48636	-0.9018	10	0.87932	D	0	-13.9262	3.3171	0.07036	0.0893:0.1485:0.4593:0.303	.	105	Q8NGP3	OR5M9_HUMAN	I	105	ENSP00000279791:V105I	ENSP00000279791:V105I	V	-	1	0	OR5M9	55987141	0.000000	0.05858	0.555000	0.28281	0.548000	0.35241	-0.760000	0.04756	0.461000	0.27071	-0.992000	0.02543	GTT		0.473	OR5M9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391638.1	NM_001004743		41	33	0	0	0	1	0	41	33				
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs376114863		TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478																																						ENST00000418868.1																			0																																																			0							g.chr3:197348674A>G																													3.37:g.197348674A>G								NR_003266.2						0	585	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.478	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			5	130	0	0	0	1	0	5	130				
TRABD	80305	broad.mit.edu	37	22	50636345	50636345	+	Silent	SNP	C	C	T			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr22:50636345C>T	ENST00000303434.4	+	8	884	c.765C>T	c.(763-765)atC>atT	p.I255I	TRABD_ENST00000380909.4_Silent_p.I255I|RP3-402G11.26_ENST00000608025.1_RNA|TRABD_ENST00000395827.1_Silent_p.I255I|TRABD_ENST00000395829.1_Silent_p.I255I	NM_025204.2	NP_079480.2	Q9H4I3	TRABD_HUMAN	TraB domain containing	255										breast(1)|central_nervous_system(1)|large_intestine(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	7		all_cancers(38;1.07e-07)|all_epithelial(38;9.6e-07)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		LUAD - Lung adenocarcinoma(64;0.105)		ACCGCACCATCGTCTCGGAGC	0.652																																						ENST00000303434.4																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	7						c.(763-765)atC>atT		TraB domain containing							144.0	108.0	120.0					22																	50636345		2203	4300	6503	SO:0001819	synonymous_variant	80305							g.chr22:50636345C>T	AL449244	CCDS14086.1	22q13.33	2006-07-06			ENSG00000170638	ENSG00000170638			28805	protein-coding gene	gene with protein product						12477932	Standard	NM_025204		Approved	PP2447	uc003bjs.1	Q9H4I3	OTTHUMG00000044644	ENST00000303434.4:c.765C>T	22.37:g.50636345C>T						TRABD_ENST00000395829.1_Silent_p.I255I|TRABD_ENST00000395827.1_Silent_p.I255I|TRABD_ENST00000380909.4_Silent_p.I255I	p.I255I	NM_025204.2	NP_079480.2	Q9H4I3	TRABD_HUMAN		LUAD - Lung adenocarcinoma(64;0.105)	8	884	+		all_cancers(38;1.07e-07)|all_epithelial(38;9.6e-07)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)	255					Q19CC5|Q96ED8|Q9H7N1|Q9UGX6|Q9UGX7	Silent	SNP	ENST00000303434.4	37	c.765C>T	CCDS14086.1																																																																																				0.652	TRABD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316987.1	NM_025204		52	65	0	0	0	1	0	52	65				
USP19	10869	broad.mit.edu	37	3	49153204	49153204	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr3:49153204T>A	ENST00000398888.2	-	10	1654	c.1336A>T	c.(1336-1338)Aca>Tca	p.T446S	USP19_ENST00000434032.2_Missense_Mutation_p.T547S|USP19_ENST00000398898.2_Missense_Mutation_p.T486S|USP19_ENST00000398896.1_Missense_Mutation_p.T254S|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000417901.1_Missense_Mutation_p.T549S|USP19_ENST00000398892.3_Missense_Mutation_p.T486S|USP19_ENST00000453664.1_Missense_Mutation_p.T537S	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	446					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCCATGGGTGTGCGGGTTGCC	0.602																																						ENST00000453664.1																			0				NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(1609-1611)Aca>Tca		ubiquitin specific peptidase 19							91.0	96.0	94.0					3																	49153204		2110	4220	6330	SO:0001583	missense	10869				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:49153204T>A	AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"""Zinc fingers, MYND-type"", ""Ubiquitin-specific peptidases"""	12617	protein-coding gene	gene with protein product		614471	"""ubiquitin specific protease 19"""			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.1336A>T	3.37:g.49153204T>A	ENSP00000381863:p.Thr446Ser					USP19_ENST00000398888.2_Missense_Mutation_p.T446S|USP19_ENST00000398892.3_Missense_Mutation_p.T486S|USP19_ENST00000398896.1_Missense_Mutation_p.T254S|USP19_ENST00000434032.2_Missense_Mutation_p.T547S|USP19_ENST00000398898.2_Missense_Mutation_p.T486S|USP19_ENST00000417901.1_Missense_Mutation_p.T549S	p.T537S	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	11	1927	-			446					A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	ENST00000398888.2	37	c.1609A>T	CCDS43090.1	.	.	.	.	.	.	.	.	.	.	T	7.985	0.751989	0.15778	.	.	ENSG00000172046	ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032;ENST00000306026	T;T;T;T;T;T;T;T	0.35973	2.15;2.11;2.21;2.22;2.13;2.27;2.22;1.28	6.17	6.17	0.99709	Domain of unknown function DUF1872 (1);	0.820352	0.11557	N	0.552173	T	0.35856	0.0946	L	0.36672	1.1	0.37145	D	0.901874	B;B;B;B;B;B;B	0.30889	0.22;0.049;0.1;0.299;0.027;0.184;0.002	B;B;B;B;B;B;B	0.32583	0.097;0.044;0.097;0.091;0.055;0.148;0.017	T	0.28490	-1.0042	10	0.44086	T	0.13	-12.8321	16.4837	0.84171	0.0:0.0:0.0:1.0	.	612;547;537;446;486;532;254	A5PKX8;E9PEG8;E7EN22;O94966;B5MEG5;O94966-2;E7ESU0	.;.;.;UBP19_HUMAN;.;.;.	S	254;486;549;537;486;446;547;534	ENSP00000381870:T254S;ENSP00000381872:T486S;ENSP00000395260:T549S;ENSP00000400090:T537S;ENSP00000381867:T486S;ENSP00000381863:T446S;ENSP00000401197:T547S;ENSP00000303503:T534S	ENSP00000303503:T534S	T	-	1	0	USP19	49128208	1.000000	0.71417	0.404000	0.26397	0.320000	0.28249	3.347000	0.52200	2.371000	0.80710	0.533000	0.62120	ACA		0.602	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	NM_006677		17	43	0	0	0	1	0	17	43				
NEK11	79858	broad.mit.edu	37	3	130947384	130947384	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr3:130947384A>G	ENST00000510769.1	+	11	1350	c.1097A>G	c.(1096-1098)gAc>gGc	p.D366G	NEK11_ENST00000412440.2_Missense_Mutation_p.D287G|NEK11_ENST00000383366.4_Missense_Mutation_p.D471G|NEK11_ENST00000510688.1_Missense_Mutation_p.D471G|NEK11_ENST00000508196.1_Missense_Mutation_p.D471G|NEK11_ENST00000429253.2_Missense_Mutation_p.D471G					NIMA-related kinase 11											breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						ATCCCAGAAGACCCACTTGTG	0.368																																						ENST00000383366.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						c.(1411-1413)gAc>gGc		NIMA-related kinase 11							140.0	139.0	139.0					3																	130947384		2203	4300	6503	SO:0001583	missense	79858				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr3:130947384A>G	AK027148	CCDS3069.1, CCDS46915.1, CCDS54639.1	3q22.1	2012-11-15	2012-11-15		ENSG00000114670	ENSG00000114670			18593	protein-coding gene	gene with protein product		609779	"""NIMA (never in mitosis gene a)- related kinase 11"""				Standard	NM_024800		Approved	FLJ23495	uc003eny.3	Q8NG66	OTTHUMG00000159654	ENST00000510769.1:c.1097A>G	3.37:g.130947384A>G	ENSP00000421549:p.Asp366Gly					NEK11_ENST00000412440.2_Missense_Mutation_p.D287G|NEK11_ENST00000510688.1_Missense_Mutation_p.D471G|NEK11_ENST00000508196.1_Missense_Mutation_p.D471G|NEK11_ENST00000429253.2_Missense_Mutation_p.D471G|NEK11_ENST00000510769.1_Missense_Mutation_p.D366G	p.D471G	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN			15	1705	+			471						Missense_Mutation	SNP	ENST00000510769.1	37	c.1412A>G		.	.	.	.	.	.	.	.	.	.	A	19.91	3.915125	0.73098	.	.	ENSG00000114670	ENST00000510769;ENST00000429253;ENST00000510688;ENST00000383366;ENST00000412440;ENST00000508196	T;T;T;T;T;T	0.80393	-1.09;-0.96;-1.37;-0.96;-1.16;-0.96	5.67	5.67	0.87782	.	0.000000	0.44285	D	0.000467	D	0.86518	0.5952	L	0.52573	1.65	0.45150	D	0.998163	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.996	D	0.87571	0.2478	10	0.72032	D	0.01	.	13.4265	0.61028	1.0:0.0:0.0:0.0	.	366;287;471;471	E9PHI8;B4DDN2;Q8NG66-4;Q8NG66	.;.;.;NEK11_HUMAN	G	366;471;471;471;287;471	ENSP00000421549:D366G;ENSP00000397180:D471G;ENSP00000423458:D471G;ENSP00000372857:D471G;ENSP00000411888:D287G;ENSP00000421851:D471G	ENSP00000372857:D471G	D	+	2	0	NEK11	132430074	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	5.115000	0.64655	2.144000	0.66660	0.533000	0.62120	GAC		0.368	NEK11-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000356757.1	NM_024800		11	255	0	0	0	1	0	11	255				
USP9X	8239	broad.mit.edu	37	X	41069807	41069807	+	Missense_Mutation	SNP	A	A	C			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chrX:41069807A>C	ENST00000324545.8	+	33	5694	c.5061A>C	c.(5059-5061)ttA>ttC	p.L1687F	USP9X_ENST00000378308.2_Missense_Mutation_p.L1687F	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1687	USP.				axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ACGATGCTTTAGAATTTTTTA	0.353																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(5059-5061)ttA>ttC		ubiquitin specific peptidase 9, X-linked							117.0	111.0	113.0					X																	41069807		2174	4291	6465	SO:0001583	missense	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41069807A>C	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.5061A>C	X.37:g.41069807A>C	ENSP00000316357:p.Leu1687Phe					USP9X_ENST00000378308.2_Missense_Mutation_p.L1687F	p.L1687F	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			33	5694	+			1687					O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	c.5061A>C	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	A	14.32	2.501633	0.44455	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.05649	3.41;3.41	5.1	3.94	0.45596	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.64402	D	0.000001	T	0.04634	0.0126	L	0.31207	0.915	0.53688	D	0.999974	P;B	0.43826	0.818;0.362	B;B	0.39419	0.299;0.238	T	0.49113	-0.8973	10	0.10111	T	0.7	.	9.907	0.41381	0.9182:0.0:0.0818:0.0	.	1687;1687	Q93008-1;Q93008	.;USP9X_HUMAN	F	1687	ENSP00000367558:L1687F;ENSP00000316357:L1687F	ENSP00000316357:L1687F	L	+	3	2	USP9X	40954751	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.959000	0.63666	0.605000	0.29947	0.481000	0.45027	TTA		0.353	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		9	144	0	0	0	1	0	9	144				
TRIM50	135892	broad.mit.edu	37	7	72732892	72732892	+	Missense_Mutation	SNP	G	G	A	rs145742720		TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr7:72732892G>A	ENST00000333149.2	-	4	855	c.655C>T	c.(655-657)Cgg>Tgg	p.R219W	TRIM50_ENST00000453152.1_Missense_Mutation_p.R219W	NM_178125.2	NP_835226.2	Q86XT4	TRI50_HUMAN	tripartite motif containing 50	219						cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						AGCCGCTCCCGGGTTCCCTGG	0.667																																						ENST00000333149.2																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						c.(655-657)Cgg>Tgg		tripartite motif containing 50		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	44.0	49.0	47.0		655	4.4	0.0	7	dbSNP_134	47	0,8592		0,0,4296	no	missense	TRIM50	NM_178125.2	101	0,1,6498	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	219/488	72732892	1,12997	2203	4296	6499	SO:0001583	missense	135892					cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding	g.chr7:72732892G>A	AY081948	CCDS34654.1	7q11.23	2013-01-09	2011-01-25	2006-03-31	ENSG00000146755	ENSG00000146755		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19017	protein-coding gene	gene with protein product		612548	"""tripartite motif-containing 50A"", ""tripartite motif-containing 50"""	TRIM50A			Standard	NM_001281450		Approved	FLJ32804	uc003txy.1	Q86XT4	OTTHUMG00000156805	ENST00000333149.2:c.655C>T	7.37:g.72732892G>A	ENSP00000327994:p.Arg219Trp					TRIM50_ENST00000453152.1_Missense_Mutation_p.R219W	p.R219W	NM_178125.2	NP_835226.1	Q86XT4	TRI50_HUMAN			4	855	-			219					Q86XT3	Missense_Mutation	SNP	ENST00000333149.2	37	c.655C>T	CCDS34654.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.546599	0.45383	2.27E-4	0.0	ENSG00000146755	ENST00000333149;ENST00000453152	T;T	0.65549	-0.16;-0.16	4.36	4.36	0.52297	.	1.015530	0.07918	N	0.975346	T	0.46171	0.1379	N	0.08118	0	0.09310	N	1	B;B	0.19445	0.036;0.021	B;B	0.09377	0.004;0.002	T	0.37753	-0.9692	10	0.66056	D	0.02	.	13.8016	0.63204	0.0:0.0:1.0:0.0	.	219;219	Q86XT4-2;Q86XT4	.;TRI50_HUMAN	W	219	ENSP00000327994:R219W;ENSP00000413875:R219W	ENSP00000327994:R219W	R	-	1	2	TRIM50	72370828	0.061000	0.20836	0.006000	0.13384	0.933000	0.57130	2.481000	0.45215	2.253000	0.74438	0.461000	0.40582	CGG		0.667	TRIM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345925.1	NM_178125		29	120	0	0	0	1	0	29	120				
DNMT3A	1788	broad.mit.edu	37	2	25463521	25463521	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr2:25463521T>C	ENST00000264709.3	-	18	2498	c.2161A>G	c.(2161-2163)Aag>Gag	p.K721E	DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000380746.4_Missense_Mutation_p.K532E|DNMT3A_ENST00000402667.1_Missense_Mutation_p.K498E|DNMT3A_ENST00000321117.5_Missense_Mutation_p.K721E	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	721	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAGAGGCCCTTGCGAGCAGGG	0.577			"""Mis, F, N, S"""		AML																																	ENST00000264709.3				Rec	yes		2	2p23	1788	"""Mis, F, N, S"""	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021						c.(2161-2163)Aag>Gag		DNA (cytosine-5-)-methyltransferase 3 alpha							143.0	119.0	127.0					2																	25463521		2203	4300	6503	SO:0001583	missense	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25463521T>C		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2161A>G	2.37:g.25463521T>C	ENSP00000264709:p.Lys721Glu					DNMT3A_ENST00000321117.5_Missense_Mutation_p.K721E|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000402667.1_Missense_Mutation_p.K498E|DNMT3A_ENST00000380746.4_Missense_Mutation_p.K532E	p.K721E	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN			18	2498	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		721					E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	c.2161A>G	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	T	19.77	3.889473	0.72524	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.89213	0.6651	L	0.47190	1.495	0.80722	D	1	P;D	0.60575	0.462;0.988	B;D	0.66979	0.344;0.948	D	0.90283	0.4316	10	0.87932	D	0	-13.0344	14.4603	0.67445	0.0:0.0:0.0:1.0	.	721;532	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	E	532;721;721;498	ENSP00000370122:K532E;ENSP00000324375:K721E;ENSP00000264709:K721E;ENSP00000384237:K498E	ENSP00000264709:K721E	K	-	1	0	DNMT3A	25317025	1.000000	0.71417	1.000000	0.80357	0.636000	0.38137	7.976000	0.88070	2.111000	0.64477	0.454000	0.30748	AAG		0.577	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		28	31	0	0	0	1	0	28	31				
OR2AE1	81392	broad.mit.edu	37	7	99474198	99474198	+	Silent	SNP	G	G	A	rs200183500		TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr7:99474198G>A	ENST00000316368.2	-	1	482	c.459C>T	c.(457-459)tcC>tcT	p.S153S		NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE, member 1	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					GGGAGTTCACGGATGCCCCCA	0.507													G|||	1	0.000199681	0.0	0.0014	5008	,	,		24102	0.0		0.0	False		,,,				2504	0.0					ENST00000316368.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11						c.(457-459)tcC>tcT		olfactory receptor, family 2, subfamily AE, member 1		G		0,4406		0,0,2203	151.0	140.0	143.0		459	-3.1	0.0	7		143	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OR2AE1	NM_001005276.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		153/324	99474198	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	81392				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:99474198G>A	AC011904	CCDS34696.1	7q22.1	2014-02-19	2002-02-28		ENSG00000244623	ENSG00000244623		"""GPCR / Class A : Olfactory receptors"""	15087	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily AE, member 2"""	OR2AE2			Standard	NM_001005276		Approved		uc003usc.1	Q8NHA4	OTTHUMG00000156650	ENST00000316368.2:c.459C>T	7.37:g.99474198G>A							p.S153S	NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN			1	482	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		153					B2RPD2	Silent	SNP	ENST00000316368.2	37	c.459C>T	CCDS34696.1																																																																																				0.507	OR2AE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345053.1			29	91	0	0	0	1	0	29	91				
TMPRSS11B	132724	broad.mit.edu	37	4	69094596	69094596	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr4:69094596A>G	ENST00000332644.5	-	9	1114	c.953T>C	c.(952-954)tTt>tCt	p.F318S		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	318	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						TATCACTGGAAATGAACCTAA	0.358																																						ENST00000332644.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						c.(952-954)tTt>tCt		transmembrane protease, serine 11B							86.0	78.0	81.0					4																	69094596		2203	4300	6503	SO:0001583	missense	132724				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:69094596A>G	BX537945	CCDS3521.1	4q13.2	2010-04-13			ENSG00000185873	ENSG00000185873		"""Serine peptidases / Transmembrane"""	25398	protein-coding gene	gene with protein product							Standard	NM_182502		Approved		uc003hdw.4	Q86T26	OTTHUMG00000129301	ENST00000332644.5:c.953T>C	4.37:g.69094596A>G	ENSP00000330475:p.Phe318Ser						p.F318S	NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN			9	1114	-			318			Peptidase S1.		A8K4D9	Missense_Mutation	SNP	ENST00000332644.5	37	c.953T>C	CCDS3521.1	.	.	.	.	.	.	.	.	.	.	A	1.370	-0.586347	0.03827	.	.	ENSG00000185873	ENST00000332644	D	0.88277	-2.36	4.41	-5.87	0.02297	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	2.061820	0.02425	N	0.082988	T	0.67795	0.2931	N	0.01824	-0.7	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.63116	-0.6709	10	0.17369	T	0.5	.	3.8804	0.09076	0.3288:0.0:0.304:0.3672	.	318	Q86T26	TM11B_HUMAN	S	318	ENSP00000330475:F318S	ENSP00000330475:F318S	F	-	2	0	TMPRSS11B	68777191	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.309000	0.08145	-0.722000	0.04922	-1.093000	0.02169	TTT		0.358	TMPRSS11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251431.2	NM_182502		3	62	0	0	0	1	0	3	62				
SYT16	83851	broad.mit.edu	37	14	62542108	62542108	+	Splice_Site	SNP	A	A	G			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr14:62542108A>G	ENST00000430451.2	+	3	1189	c.992A>G	c.(991-993)gAg>gGg	p.E331G	SYT16_ENST00000446982.2_Splice_Site_p.E331G|RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	331					exocytosis (GO:0006887)					central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TGGAGTCCAGAGGCAAGTTAT	0.443																																						ENST00000430451.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35						c.e3+1		synaptotagmin XVI							124.0	121.0	122.0					14																	62542108		1889	4094	5983	SO:0001630	splice_region_variant	83851							g.chr14:62542108A>G	BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"""Synaptotagmins"""	23142	protein-coding gene	gene with protein product	"""synaptotagmin XIV-related"", "" chr14 synaptotagmin"""	610950	"""synaptotagmin XIV-like"""	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.993+1A>G	14.37:g.62542108A>G						RP11-355I22.5_ENST00000553990.1_lincRNA|SYT16_ENST00000446982.2_Splice_Site_p.E331_splice	p.E331_splice	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)	3	1189	+			331					B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Splice_Site	SNP	ENST00000430451.2	37	c.993_splice	CCDS45121.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.723146	0.89298	.	.	ENSG00000139973	ENST00000446982;ENST00000430451	T;T	0.63417	-0.04;3.36	5.65	5.65	0.86999	.	.	.	.	.	T	0.76807	0.4039	M	0.68593	2.085	0.80722	D	1	D;B	0.71674	0.998;0.284	D;B	0.68039	0.955;0.234	T	0.78889	-0.2026	9	0.66056	D	0.02	-30.406	16.0399	0.80667	1.0:0.0:0.0:0.0	.	331;331	B4DZH2;Q17RD7	.;SYT16_HUMAN	G	331	ENSP00000388023:E331G;ENSP00000394700:E331G	ENSP00000394700:E331G	E	+	2	0	SYT16	61611861	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.830000	0.86741	2.371000	0.80710	0.533000	0.62120	GAG		0.443	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1	NM_031914	Missense_Mutation	41	61	0	0	0	1	0	41	61				
RPP25L	138716	broad.mit.edu	37	9	34611084	34611084	+	Silent	SNP	G	G	A			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr9:34611084G>A	ENST00000297613.4	-	2	490	c.210C>T	c.(208-210)tgC>tgT	p.C70C	RPP25L_ENST00000378959.4_Silent_p.C70C|DCTN3_ENST00000479399.1_5'Flank	NM_148179.2	NP_680545.1	Q8N5L8	RP25L_HUMAN	ribonuclease P/MRP 25kDa subunit-like	70						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										CAATCTCAGCGCAGCTGACAG	0.622																																						ENST00000297613.4																			0											c.(208-210)tgC>tgT		ribonuclease P/MRP 25kDa subunit-like							61.0	60.0	60.0					9																	34611084		2203	4300	6503	SO:0001819	synonymous_variant	138716						nucleic acid binding	g.chr9:34611084G>A	BC032136	CCDS6559.1	9p11.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164967	ENSG00000164967			19909	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 23"""	C9orf23		16998185	Standard	NM_148178		Approved	bA296L22.5, MGC29635	uc003zuv.3	Q8N5L8	OTTHUMG00000000443	ENST00000297613.4:c.210C>T	9.37:g.34611084G>A						RPP25L_ENST00000378959.4_Silent_p.C70C	p.C70C	NM_148179.2	NP_680545.1	Q8N5L8	CI023_HUMAN			2	490	-			70					D3DRM5	Silent	SNP	ENST00000297613.4	37	c.210C>T	CCDS6559.1																																																																																				0.622	RPP25L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001130.1	NM_148179		3	43	0	0	0	1	0	3	43				
NT5DC3	51559	broad.mit.edu	37	12	104187730	104187730	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr12:104187730T>C	ENST00000392876.3	-	7	839	c.799A>G	c.(799-801)Att>Gtt	p.I267V	NT5DC3_ENST00000465502.1_5'Flank	NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	267						cytosol (GO:0005829)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						TCTGCTTCAATTGCTCTGTAC	0.403																																						ENST00000392876.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						c.(799-801)Att>Gtt		5'-nucleotidase domain containing 3							233.0	202.0	212.0					12																	104187730		2203	4300	6503	SO:0001583	missense	51559						hydrolase activity|metal ion binding	g.chr12:104187730T>C	AB032786	CCDS41824.1	12q22-q23.1	2006-02-03			ENSG00000111696	ENSG00000111696			30826	protein-coding gene	gene with protein product		611076					Standard	NM_001031701		Approved	TU12B1-TY, FLJ11266	uc010swe.1	Q86UY8	OTTHUMG00000157017	ENST00000392876.3:c.799A>G	12.37:g.104187730T>C	ENSP00000376615:p.Ile267Val						p.I267V	NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN			7	839	-			267					Q9NUM7|Q9P2T2|Q9P2T3	Missense_Mutation	SNP	ENST00000392876.3	37	c.799A>G	CCDS41824.1	.	.	.	.	.	.	.	.	.	.	T	1.989	-0.432169	0.04669	.	.	ENSG00000111696	ENST00000392876	T	0.19938	2.11	5.73	4.59	0.56863	HAD-like domain (1);	0.109304	0.64402	N	0.000004	T	0.10035	0.0246	N	0.11427	0.14	0.40935	D	0.984423	B	0.14805	0.011	B	0.28011	0.085	T	0.13229	-1.0517	10	0.02654	T	1	-30.4477	8.8668	0.35291	0.0:0.1437:0.0:0.8563	.	267	Q86UY8	NT5D3_HUMAN	V	267	ENSP00000376615:I267V	ENSP00000376615:I267V	I	-	1	0	NT5DC3	102711860	1.000000	0.71417	0.626000	0.29213	0.799000	0.45148	3.564000	0.53791	1.001000	0.39076	0.455000	0.32223	ATT		0.403	NT5DC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347118.2	NM_016575		35	51	0	0	0	1	0	35	51				
NAIP	4671	broad.mit.edu	37	5	70308494	70308494	+	Silent	SNP	G	G	A			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr5:70308494G>A	ENST00000517649.1	-	4	539	c.249C>T	c.(247-249)gcC>gcT	p.A83A	NAIP_ENST00000508426.2_Silent_p.A83A|NAIP_ENST00000503719.2_Intron|NAIP_ENST00000523981.1_Intron|NAIP_ENST00000194097.4_Silent_p.A83A	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	83					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|metal ion binding (GO:0046872)			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		AAAACCCAGCGGCCGCCATCT	0.493																																						ENST00000517649.1																			0				central_nervous_system(1)	1						c.(247-249)gcC>gcT		NLR family, apoptosis inhibitory protein							85.0	78.0	80.0					5																	70308494		2202	4296	6498	SO:0001819	synonymous_variant	4671				anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding	g.chr5:70308494G>A	U19251	CCDS4009.1, CCDS43327.1	5q13.2	2010-06-16	2006-12-08	2006-12-08	ENSG00000249437	ENSG00000249437		"""Baculoviral IAP repeat containing"", ""Nucleotide-binding domain and leucine rich repeat containing"""	7634	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and BIR domain containing 1"", ""NLR family, BIR domain containing 1"""	600355	"""baculoviral IAP repeat-containing 1"""	BIRC1		7813013	Standard	NM_022892		Approved	NLRB1	uc003jyj.1	Q13075	OTTHUMG00000163318	ENST00000517649.1:c.249C>T	5.37:g.70308494G>A						NAIP_ENST00000503719.2_Intron|NAIP_ENST00000194097.4_Silent_p.A83A|NAIP_ENST00000508426.2_Silent_p.A83A|NAIP_ENST00000523981.1_Intron	p.A83A	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)	4	539	-		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)	83					B9EG72|E9PHD1|O75857|Q13730|Q59GI6|Q8TDZ4|Q99796	Silent	SNP	ENST00000517649.1	37	c.249C>T	CCDS4009.1																																																																																				0.493	NAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372649.6	NM_004536		39	65	0	0	0	1	0	39	65				
SLC22A2	6582	broad.mit.edu	37	6	160666576	160666576	+	Splice_Site	SNP	C	C	T			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr6:160666576C>T	ENST00000366953.3	-	6	1217	c.959G>A	c.(958-960)cGc>cAc	p.R320H	SLC22A2_ENST00000491092.1_5'UTR|SLC22A2_ENST00000366952.1_Splice_Site_p.R299H	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	320					body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496)	p.R320H(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	AAGTCTCAGGCGCTAAGAAAA	0.408																																						ENST00000366952.1																			1	Substitution - Missense(1)	p.R320H(1)	prostate(1)	breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27						c.e8-1		solute carrier family 22 (organic cation transporter), member 2							64.0	60.0	62.0					6																	160666576		2203	4300	6503	SO:0001630	splice_region_variant	6582				body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity	g.chr6:160666576C>T	X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499		"""Solute carriers"""	10966	protein-coding gene	gene with protein product		602608				9605850	Standard	NM_003058		Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366953.3:c.958-1G>A	6.37:g.160666576C>T						SLC22A2_ENST00000491092.1_5'UTR|SLC22A2_ENST00000366953.3_Splice_Site_p.R320_splice	p.R299_splice			O15244	S22A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	8	2377	-		Breast(66;0.000776)|Ovarian(120;0.0303)	320					Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	Splice_Site	SNP	ENST00000366953.3	37	c.894_splice	CCDS5276.1	.	.	.	.	.	.	.	.	.	.	C	8.510	0.866226	0.17250	.	.	ENSG00000112499	ENST00000366953;ENST00000366952	T;T	0.74947	-0.89;-0.89	4.87	3.07	0.35406	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.543240	0.21107	N	0.080043	T	0.29491	0.0735	N	0.04260	-0.245	0.21416	N	0.999692	B;B	0.09022	0.002;0.001	B;B	0.04013	0.001;0.0	T	0.22977	-1.0201	10	0.44086	T	0.13	.	8.403	0.32597	0.0:0.6976:0.0:0.3024	.	320;320	O15244;O15244-2	S22A2_HUMAN;.	H	320;299	ENSP00000355920:R320H;ENSP00000355919:R299H	ENSP00000355919:R299H	R	-	2	0	SLC22A2	160586566	0.706000	0.27856	0.954000	0.39281	0.035000	0.12851	0.144000	0.16135	0.736000	0.32559	-0.137000	0.14449	CGC		0.408	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042943.1	NM_003058	Missense_Mutation	10	24	0	0	0	1	0	10	24				
TMPRSS11B	132724	broad.mit.edu	37	4	69095170	69095170	+	Missense_Mutation	SNP	G	G	A	rs201912154		TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr4:69095170G>A	ENST00000332644.5	-	8	912	c.751C>T	c.(751-753)Cgg>Tgg	p.R251W		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	251	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						TGGACTTTCCGTGTCATATAT	0.338													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18640	0.0		0.0	False		,,,				2504	0.0					ENST00000332644.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						c.(751-753)Cgg>Tgg		transmembrane protease, serine 11B		G	TRP/ARG	0,4406		0,0,2203	65.0	63.0	64.0		751	0.6	0.0	4		64	1,8599	1.2+/-3.3	0,1,4299	yes	missense	TMPRSS11B	NM_182502.3	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	251/417	69095170	1,13005	2203	4300	6503	SO:0001583	missense	132724				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:69095170G>A	BX537945	CCDS3521.1	4q13.2	2010-04-13			ENSG00000185873	ENSG00000185873		"""Serine peptidases / Transmembrane"""	25398	protein-coding gene	gene with protein product							Standard	NM_182502		Approved		uc003hdw.4	Q86T26	OTTHUMG00000129301	ENST00000332644.5:c.751C>T	4.37:g.69095170G>A	ENSP00000330475:p.Arg251Trp						p.R251W	NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN			8	912	-			251			Peptidase S1.		A8K4D9	Missense_Mutation	SNP	ENST00000332644.5	37	c.751C>T	CCDS3521.1	.	.	.	.	.	.	.	.	.	.	G	10.73	1.432304	0.25813	0.0	1.16E-4	ENSG00000185873	ENST00000332644	D	0.93712	-3.27	4.62	0.599	0.17519	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.744561	0.10956	N	0.615478	D	0.95159	0.8431	M	0.88775	2.98	0.09310	N	1	D	0.76494	0.999	P	0.60173	0.87	D	0.86408	0.1746	10	0.87932	D	0	.	0.999	0.01473	0.1792:0.1529:0.3535:0.3144	.	251	Q86T26	TM11B_HUMAN	W	251	ENSP00000330475:R251W	ENSP00000330475:R251W	R	-	1	2	TMPRSS11B	68777765	0.000000	0.05858	0.000000	0.03702	0.186000	0.23388	-1.856000	0.01662	0.262000	0.21774	-0.310000	0.09108	CGG		0.338	TMPRSS11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251431.2	NM_182502		27	28	0	0	0	1	0	27	28				
LRP1B	53353	broad.mit.edu	37	2	141130603	141130603	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr2:141130603C>T	ENST00000389484.3	-	69	11713	c.10742G>A	c.(10741-10743)gGg>gAg	p.G3581E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3581	LDL-receptor class A 27. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTCATCTTCCCCATATTTGCA	0.358										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(10741-10743)gGg>gAg		low density lipoprotein receptor-related protein 1B							215.0	209.0	211.0					2																	141130603		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141130603C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.10742G>A	2.37:g.141130603C>T	ENSP00000374135:p.Gly3581Glu	TSP Lung(27;0.18)					p.G3581E	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	69	11713	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3581			LDL-receptor class A 27.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.10742G>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.943172	0.92526	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	T	0.53857	0.6	5.67	5.67	0.87782	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.64402	U	0.000001	T	0.74891	0.3776	M	0.79343	2.45	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74870	-0.3517	10	0.49607	T	0.09	.	19.7612	0.96319	0.0:1.0:0.0:0.0	.	3581	Q9NZR2	LRP1B_HUMAN	E	3581;3519	ENSP00000374135:G3581E	ENSP00000374135:G3581E	G	-	2	0	LRP1B	140847073	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	7.484000	0.81180	2.679000	0.91253	0.655000	0.94253	GGG		0.358	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		6	150	0	0	0	1	0	6	150				
PRPF31	26121	broad.mit.edu	37	19	54628008	54628008	+	Silent	SNP	C	C	T			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr19:54628008C>T	ENST00000321030.4	+	8	1177	c.828C>T	c.(826-828)caC>caT	p.H276H	PRPF31_ENST00000419967.1_Silent_p.H276H|PRPF31_ENST00000498612.1_3'UTR|PRPF31_ENST00000391755.1_Silent_p.H276H|AC012314.8_ENST00000452097.1_RNA	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31	276	Nop. {ECO:0000255|PROSITE- ProRule:PRU00690}.				mRNA splicing, via spliceosome (GO:0000398)|spliceosomal tri-snRNP complex assembly (GO:0000244)	Cajal body (GO:0015030)|MLL1 complex (GO:0071339)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|U2-type spliceosomal complex (GO:0005684)|U4 snRNP (GO:0005687)|U4/U6 x U5 tri-snRNP complex (GO:0046540)|U4atac snRNP (GO:0005690)	poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|snRNP binding (GO:0070990)			breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					ACATCTACCACAGTGACATCG	0.667																																						ENST00000321030.4																			0				breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	GRCh37	CD033222	PRPF31	D		c.(826-828)caC>caT		pre-mRNA processing factor 31							84.0	70.0	75.0					19																	54628008		2203	4300	6503	SO:0001819	synonymous_variant	26121				assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding	g.chr19:54628008C>T	AL050369	CCDS12879.1	19q13.4	2013-07-16	2013-06-10		ENSG00000105618	ENSG00000105618			15446	protein-coding gene	gene with protein product		606419	"""PRP31 pre-mRNA processing factor 31 homolog (yeast)"", ""PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae)"""	RP11		11545739	Standard	NM_015629		Approved	NY-BR-99, PRP31, hPrp31, SNRNP61	uc002qdh.2	Q8WWY3	OTTHUMG00000066040	ENST00000321030.4:c.828C>T	19.37:g.54628008C>T						PRPF31_ENST00000498612.1_3'UTR|PRPF31_ENST00000419967.1_Silent_p.H276H|AC012314.8_ENST00000452097.1_RNA|PRPF31_ENST00000391755.1_Silent_p.H276H	p.H276H	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN			8	1177	+	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		276			Nop.		Q17RB4|Q8N7F9|Q9H271|Q9Y439	Silent	SNP	ENST00000321030.4	37	c.828C>T	CCDS12879.1																																																																																				0.667	PRPF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141417.2			19	11	0	0	0	1	0	19	11				
ZBTB38	253461	broad.mit.edu	37	3	141161851	141161851	+	Silent	SNP	C	C	T			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr3:141161851C>T	ENST00000514251.1	+	4	900	c.621C>T	c.(619-621)gaC>gaT	p.D207D	ZBTB38_ENST00000441582.2_Silent_p.D207D|ZBTB38_ENST00000321464.5_Silent_p.D208D					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						AGAGGACGGACGTCTGCCACG	0.512																																						ENST00000514251.1																			0				breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						c.(619-621)gaC>gaT		zinc finger and BTB domain containing 38							67.0	65.0	66.0					3																	141161851		2064	4198	6262	SO:0001819	synonymous_variant	253461				positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:141161851C>T	BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26636	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 171"""	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.621C>T	3.37:g.141161851C>T						ZBTB38_ENST00000321464.5_Silent_p.D208D|ZBTB38_ENST00000441582.2_Silent_p.D207D	p.D207D			Q8NAP3	ZBT38_HUMAN			4	900	+			207						Silent	SNP	ENST00000514251.1	37	c.621C>T	CCDS43157.1																																																																																				0.512	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2			36	44	0	0	0	1	0	36	44				
ANKRD36BP2	645784	broad.mit.edu	37	2	89103807	89103807	+	RNA	DEL	T	T	-	rs67046863		TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr2:89103807delT	ENST00000393525.3	+	0	4281									ankyrin repeat domain 36B pseudogene 2																		GTCTAAAATATTTTATATata	0.249																																						ENST00000393525.3																			0																																																			0							g.chr2:89103807delT			2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89103807delT														0	4281	+									RNA	DEL	ENST00000393525.3	37																																																																																						0.249	ANKRD36BP2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000323523.1			2	4						2	4	---	---	---	---
GIGYF2	26058	broad.mit.edu	37	2	233697764	233697766	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr2:233697764_233697766delGCA	ENST00000409547.1	+	24	3038_3040	c.2727_2729delGCA	c.(2725-2730)ttgcag>ttg	p.Q917del	GIGYF2_ENST00000373563.4_In_Frame_Del_p.Q917del|GIGYF2_ENST00000409196.3_In_Frame_Del_p.Q911del|GIGYF2_ENST00000452341.2_In_Frame_Del_p.Q748del|GIGYF2_ENST00000409451.3_In_Frame_Del_p.Q938del|GIGYF2_ENST00000409480.1_In_Frame_Del_p.Q939del|GIGYF2_ENST00000373566.3_In_Frame_Del_p.Q939del	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	917	Gln-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TCCGGAGGTTgcagcagcagcag	0.547																																						ENST00000373566.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63						c.(2791-2796)ttg>tt		GRB10 interacting GYF protein 2			,,,	86,3842		7,72,1885					,,,	5.4	0.9			10	179,7475		8,163,3656	no	coding,coding,coding,coding	GIGYF2	NM_015575.3,NM_001103148.1,NM_001103147.1,NM_001103146.1	,,,	15,235,5541	A1A1,A1R,RR		2.3386,2.1894,2.288	,,,	,,,		265,11317				SO:0001651	inframe_deletion	26058				cell death		protein binding	g.chr2:233697764_233697766delGCA	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.2727_2729delGCA	2.37:g.233697773_233697775delGCA	ENSP00000386537:p.Gln917del					GIGYF2_ENST00000452341.2_In_Frame_Del_p.LQ740del|GIGYF2_ENST00000409547.1_In_Frame_Del_p.LQ909del|GIGYF2_ENST00000409451.3_In_Frame_Del_p.LQ930del|GIGYF2_ENST00000409480.1_In_Frame_Del_p.LQ931del|GIGYF2_ENST00000373563.4_In_Frame_Del_p.LQ909del|GIGYF2_ENST00000409196.3_In_Frame_Del_p.LQ903del	p.LQ931del			Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	23	2990_2992	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	909			Gln-rich.		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	In_Frame_Del	DEL	ENST00000409547.1	37	c.2793_2795delGCA	CCDS33401.1																																																																																				0.547	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		2	4						2	4	---	---	---	---
HLA-DRB6	3128	broad.mit.edu	37	6	32521769	32521771	+	RNA	DEL	ATT	ATT	-	rs66758325|rs115430423|rs67954476		TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr6:32521769_32521771delATT	ENST00000411500.1	-	0	740					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		AGGTTTAGTGATTTTTATTCCAA	0.429																																						ENST00000411500.1																			0																																																			0							g.chr6:32521769_32521771delATT	L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32521769_32521771delATT								NR_001298.1						0	740	-									RNA	DEL	ENST00000411500.1	37																																																																																						0.429	HLA-DRB6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000272900.1	NR_001298		3	5						3	5	---	---	---	---
PMS2P3	5387	broad.mit.edu	37	7	75142142	75142142	+	RNA	DEL	A	A	-	rs35519730	byFrequency	TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr7:75142142delA	ENST00000418756.1	-	0	991				Y_RNA_ENST00000364004.1_RNA	NR_028059.1		Q13401	PM2P3_HUMAN	postmeiotic segregation increased 2 pseudogene 3						mismatch repair (GO:0006298)|regulation of transcription, DNA-templated (GO:0006355)	mismatch repair complex (GO:0032300)	nucleic acid binding (GO:0003676)			lung(1)	1						tctcaaaaagaaaaaaaaaaa	0.418													|||unknown(NO_COVERAGE)	2287	0.456669	0.1619	0.6037	5008	,	,		12703	0.6558		0.4861	False		,,,				2504	0.5153				NSCLC(70;602 1339 5301 18528 38453)	ENST00000418756.1																			0				lung(1)	1																																														0							g.chr7:75142142delA	D38437		7q11.23	2010-10-26	2010-10-26	2010-10-26	ENSG00000127957	ENSG00000127957			9128	pseudogene	pseudogene			"""postmeiotic segregation increased 2-like 3"", ""postmeiotic segregation increased 2-like 3, pseudogene"""	PMS2L9, PMS2L3		8586419	Standard	NR_028059		Approved	PMS5, PMSR3	uc022agi.1	Q13401	OTTHUMG00000156049		7.37:g.75142142delA								NR_028059.1						0	991	-								A6NG70|Q3MJ29	RNA	DEL	ENST00000418756.1	37																																																																																						0.418	PMS2P3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000342862.2	NR_028059		4	9						4	9	---	---	---	---
CHST3	9469	broad.mit.edu	37	10	73767262	73767264	+	In_Frame_Del	DEL	TCT	TCT	-	rs145538723		TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr10:73767262_73767264delTCT	ENST00000373115.4	+	3	910_912	c.473_475delTCT	c.(472-477)atcttc>atc	p.F159del		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	159					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)|T cell homeostasis (GO:0043029)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 6-sulfotransferase activity (GO:0008459)|proteoglycan sulfotransferase activity (GO:0050698)|sulfotransferase activity (GO:0008146)			endometrium(1)|lung(5)	6						CAGGGCAACATCTTCTACCTCTT	0.7																																						ENST00000373115.4																			0				endometrium(1)|lung(5)	6						c.(472-477)atc>a		carbohydrate (chondroitin 6) sulfotransferase 3																																				SO:0001651	inframe_deletion	9469				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity	g.chr10:73767262_73767264delTCT	AB017915	CCDS7312.1	10q22.1	2007-03-14			ENSG00000122863	ENSG00000122863		"""Sulfotransferases, membrane-bound"""	1971	protein-coding gene	gene with protein product		603799				9883891, 9714738	Standard	NM_004273		Approved	C6ST, C6ST1	uc001jsn.3	Q7LGC8	OTTHUMG00000018431	ENST00000373115.4:c.473_475delTCT	10.37:g.73767265_73767267delTCT	ENSP00000362207:p.Phe159del						p.IF158del	NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN			3	910_912	+			158					O75099|Q52M30	In_Frame_Del	DEL	ENST00000373115.4	37	c.473_475delTCT	CCDS7312.1																																																																																				0.700	CHST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048563.1	NM_004273		8	12						8	12	---	---	---	---
CDKN1B	1027	broad.mit.edu	37	12	12870928	12870929	+	Frame_Shift_Ins	INS	-	-	GGAAGAGGCG	rs543122580		TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr12:12870928_12870929insGGAAGAGGCG	ENST00000228872.4	+	1	871_872	c.155_156insGGAAGAGGCG	c.(154-159)atggaafs	p.-53fs	CDKN1B_ENST00000477087.1_Intron|CDKN1B_ENST00000396340.1_Frame_Shift_Ins_p.-53fs	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|autophagic cell death (GO:0048102)|cell cycle arrest (GO:0007050)|cellular response to antibiotic (GO:0071236)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular component movement (GO:0051271)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of kinase activity (GO:0033673)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|potassium ion transport (GO:0006813)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein phosphatase binding (GO:0019903)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)	p.M52I(1)		breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		TGCAGAGACATGGAAGAGGCGA	0.594																																						ENST00000228872.4																			1	Substitution - Missense(1)	p.M52I(1)	lung(1)	breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13						c.(154-156)agafs		cyclin-dependent kinase inhibitor 1B (p27, Kip1)																																				SO:0001589	frameshift_variant	1027				autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity	g.chr12:12870928_12870929insGGAAGAGGCG	AF480891	CCDS8653.1	12p13.1-p12	2008-08-04			ENSG00000111276	ENSG00000111276			1785	protein-coding gene	gene with protein product		600778				8033212	Standard	NM_004064		Approved	KIP1, P27KIP1	uc001rat.2	P46527	OTTHUMG00000149914	ENST00000228872.4:c.156_165dupGGAAGAGGCG	12.37:g.12870929_12870938dupGGAAGAGGCG	ENSP00000228872:p.Glu53fs					CDKN1B_ENST00000477087.1_Intron|CDKN1B_ENST00000396340.1_Frame_Shift_Ins_p.R52fs	p.R52fs	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0336)	1	871_872	+		Prostate(47;0.0322)|all_epithelial(100;0.159)	52					Q16307|Q5U0H2|Q9BUS6	Frame_Shift_Ins	INS	ENST00000228872.4	37	c.155_156insGGAAGAGGCG	CCDS8653.1																																																																																				0.594	CDKN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313878.2	NM_004064		10	76						10	76	---	---	---	---
TPTE2P1	646405	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG	rs375560921|rs201773491	byFrequency	TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282							Q5T6R2	TPT2L_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 1																		AGGAAGGTTCTAAAAAAAATTT	0.252														9	0.00179712	0.0008	0.0014	5008	,	,		20326	0.004		0.003	False		,,,				2504	0.0					ENST00000429698.1																			0																																																			0							g.chr13:25527490_25527491insAAAAAG			13q12.12-q12.13	2012-10-03			ENSG00000253771	ENSG00000253771			35196	pseudogene	pseudogene							Standard	NR_026730		Approved		uc010tdh.2	Q5T6R2	OTTHUMG00000016596		13.37:g.25527490_25527491insAAAAAG														0	282	-								B3KST4|B4DMH9	RNA	INS	ENST00000429698.1	37																																																																																						0.252	TPTE2P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000044206.1			2	4						2	4	---	---	---	---
SPIRE2	84501	broad.mit.edu	37	16	89916879	89916880	+	In_Frame_Ins	INS	-	-	GAG	rs146569219|rs377330880	byFrequency	TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr16:89916879_89916880insGAG	ENST00000378247.3	+	3	499_500	c.456_457insGAG	c.(457-459)gag>GAGgag	p.153_153E>EE	SPIRE2_ENST00000393062.2_In_Frame_Ins_p.153_153E>EE|SPIRE2_ENST00000564878.1_3'UTR	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	153	KIND. {ECO:0000255|PROSITE- ProRule:PRU00709}.				actin cytoskeleton organization (GO:0030036)|cleavage furrow formation (GO:0036089)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|intracellular transport (GO:0046907)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		ACGGGGGTCCCGAGGAGGAGGA	0.728														371	0.0740815	0.0038	0.0245	5008	,	,		12494	0.2679		0.0606	False		,,,				2504	0.0184					ENST00000378247.3																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(454-459)ccagga>ccGAGagga		spire-type actin nucleation factor 2																																				SO:0001652	inframe_insertion	84501				transport	cytoplasm|cytoskeleton	actin binding	g.chr16:89916879_89916880insGAG	AL834408	CCDS32516.1	16q24	2013-08-27	2013-08-27			ENSG00000204991			30623	protein-coding gene	gene with protein product		609217	"""spire homolog 2 (Drosophila)"", ""spire family actin nucleation factor 2"""			11347906	Standard	NM_032451		Approved	spir-2, KIAA1832	uc002foz.1	Q8WWL2		ENST00000378247.3:c.469_471dupGAG	16.37:g.89916886_89916888dupGAG	ENSP00000367494:p.Glu157dup					SPIRE2_ENST00000393062.2_In_Frame_Ins_p.152_153PG>PRG|SPIRE2_ENST00000564878.1_3'UTR	p.152_153PG>PRG	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0286)	3	499_500	+		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)	152			KIND.		A4QPB1|Q2TA98|Q6P433|Q8ND47|Q96JJ5	In_Frame_Ins	INS	ENST00000378247.3	37	c.456_457insGAG	CCDS32516.1																																																																																				0.728	SPIRE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421843.1	XM_047462		6	4						6	4	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76939556	76939557	+	Frame_Shift_Ins	INS	-	-	A			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chrX:76939556_76939557insA	ENST00000373344.5	-	9	1405_1406	c.1191_1192insT	c.(1189-1194)tctgtgfs	p.V398fs	ATRX_ENST00000395603.3_Frame_Shift_Ins_p.V360fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	398					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TCAGCCAACACAGACTTAAAAG	0.361			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(1189-1194)tctgttfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76939556_76939557insA	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.1192dupT	X.37:g.76939557_76939557dupA	ENSP00000362441:p.Val398fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.V360fs	p.V398fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	1405_1406	-			398					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Ins	INS	ENST00000373344.5	37	c.1191_1192insT	CCDS14434.1																																																																																				0.361	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		242	320						242	320	---	---	---	---
