#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_BAM_File	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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	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
BACE1	23621	broad.mit.edu;hgsc.bcm.edu	37	11	117163878	117163880	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	CAG	CAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr11:117163878_117163880delCAG	ENST00000313005.6	-	5	1190_1192	c.730_732delCTG	c.(730-732)ctgdel	p.L244del	BACE1_ENST00000428381.2_In_Frame_Del_p.L175del|BACE1_ENST00000514464.1_5'Flank|BACE1_ENST00000528053.1_In_Frame_Del_p.L244del|BACE1_ENST00000392937.6_In_Frame_Del_p.L144del|BACE1_ENST00000445823.2_In_Frame_Del_p.L200del|BACE1_ENST00000513780.1_In_Frame_Del_p.L219del|BACE1_ENST00000510630.1_In_Frame_Del_p.L119del	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1	244					beta-amyloid metabolic process (GO:0050435)|membrane protein ectodomain proteolysis (GO:0006509)|proteolysis (GO:0006508)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	aspartic-type endopeptidase activity (GO:0004190)|beta-amyloid binding (GO:0001540)|beta-aspartyl-peptidase activity (GO:0008798)|enzyme binding (GO:0019899)			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		TGCCTGTGTACAGCGAGTGGTCG	0.512																																						.											0																																										SO:0001651	inframe_deletion	23621			AF190725	CCDS8383.1, CCDS44739.1, CCDS44740.1, CCDS44741.1, CCDS55787.1, CCDS55786.1	11q23-q24	2011-07-27	2004-04-02	2004-04-02	ENSG00000186318	ENSG00000186318			933	protein-coding gene	gene with protein product		604252	"""beta-site APP-cleaving enzyme"""	BACE		10531052	Standard	NM_012104		Approved		uc001pqz.3	P56817	OTTHUMG00000160636	ENST00000313005.6:c.730_732delCTG	11.37:g.117163878_117163880delCAG	ENSP00000318585:p.Leu244del		A0M8W7|B0YIU9|E9PE65|H7BXJ9|Q9BYB9|Q9BYC0|Q9BYC1|Q9UJT5|Q9ULS1	In_Frame_Del	DEL	ENST00000313005.6	37	CCDS8383.1																																																																																				0.512	BACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361505.1		
TP53	7157	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	17	7578396	7578396	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr17:7578396G>T	ENST00000269305.4	-	5	723	c.534C>A	c.(532-534)caC>caA	p.H178Q	TP53_ENST00000359597.4_Missense_Mutation_p.H178Q|TP53_ENST00000420246.2_Missense_Mutation_p.H178Q|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.H178Q|TP53_ENST00000445888.2_Missense_Mutation_p.H178Q|TP53_ENST00000413465.2_Missense_Mutation_p.H178Q	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	178	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> HPHP (in a Burkitt lymphoma). {ECO:0000269|PubMed:1303181}.|H -> L (in a sporadic cancer; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; 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.P177_C182delPHHERC(8)|p.H179Y(8)|p.0?(8)|p.H178Q(5)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.H178H(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.R175_H178>X(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.H178del(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H178fs*3(1)|p.H85_S90delHHERCS(1)|p.R174fs*3(1)|p.H178_H179>QY(1)|p.E171fs*61(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)	AGCGCTCATGGTGGGGGCAGC	0.642		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)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	71	Deletion - In frame(26)|Deletion - Frameshift(18)|Substitution - Missense(13)|Whole gene deletion(8)|Complex - deletion inframe(2)|Substitution - coding silent(2)|Insertion - Frameshift(1)|Complex - compound substitution(1)	large_intestine(17)|upper_aerodigestive_tract(12)|skin(8)|breast(8)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(4)|oesophagus(4)|bone(4)|ovary(3)|lung(2)|pancreas(2)|stomach(1)|thymus(1)|liver(1)											47.0	48.0	47.0					17																	7578396		2203	4300	6503	SO:0001583	missense	7157	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;	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.534C>A	17.37:g.7578396G>T	ENSP00000269305:p.His178Gln		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	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.143016	0.77888	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99778	-6.73;-6.73;-6.73;-6.73;-6.73;-6.73;-6.73;-6.73	5.59	1.36	0.22044	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.050213	0.85682	D	0.000000	D	0.99504	0.9823	M	0.69248	2.105	0.58432	D	0.999995	D;D;D;D;D;D;D	0.89917	0.998;1.0;0.975;1.0;1.0;1.0;1.0	D;D;P;D;D;D;D	0.97110	0.973;0.999;0.808;0.997;1.0;1.0;0.999	D	0.99425	1.0934	10	0.87932	D	0	-32.3354	5.932	0.19144	0.2114:0.0:0.6512:0.1374	.	139;178;178;85;178;178;178	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Q	178;178;178;178;178;178;167;85;46;85;46	ENSP00000410739:H178Q;ENSP00000352610:H178Q;ENSP00000269305:H178Q;ENSP00000398846:H178Q;ENSP00000391127:H178Q;ENSP00000391478:H178Q;ENSP00000425104:H46Q;ENSP00000423862:H85Q	ENSP00000269305:H178Q	H	-	3	2	TP53	7519121	1.000000	0.71417	0.990000	0.47175	0.866000	0.49608	4.023000	0.57211	0.113000	0.18004	-0.140000	0.14226	CAC		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
CACNA1A	773	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	19	13340907	13340907	+	Silent	SNP	G	G	A	rs372083869		TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr19:13340907G>A	ENST00000360228.5	-	36	5516	c.5517C>T	c.(5515-5517)gaC>gaT	p.D1839D	CACNA1A_ENST00000574822.1_5'UTR|CACNA1A_ENST00000573710.2_Silent_p.D1840D	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1840					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	AAGCTGCGGGGTCATACTCGG	0.597																																						.											0													63.0	69.0	67.0					19																	13340907		2063	4228	6291	SO:0001819	synonymous_variant	773			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.5517C>T	19.37:g.13340907G>A			J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	ENST00000360228.5	37	CCDS45998.1																																																																																				0.597	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068	
TIAM1	7074	broad.mit.edu;hgsc.bcm.edu	37	21	32624307	32624307	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr21:32624307G>A	ENST00000286827.3	-	6	1633	c.1162C>T	c.(1162-1164)Cgg>Tgg	p.R388W	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.R388W	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	388					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						AGCTCCCGCCGGAAGTTCTCG	0.687																																						.											0													44.0	51.0	49.0					21																	32624307		2203	4299	6502	SO:0001583	missense	7074				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.1162C>T	21.37:g.32624307G>A	ENSP00000286827:p.Arg388Trp		B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.915919	0.73098	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.48836	0.84;0.8	4.86	0.664	0.17890	.	0.000000	0.85682	D	0.000000	T	0.61311	0.2337	L	0.55481	1.735	0.54753	D	0.999986	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.61978	-0.6951	10	0.66056	D	0.02	.	14.2083	0.65748	0.0:0.0:0.4736:0.5264	.	388;388;388	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	W	388;229;388	ENSP00000286827:R388W;ENSP00000441570:R388W	ENSP00000286827:R388W	R	-	1	2	TIAM1	31546178	1.000000	0.71417	0.056000	0.19401	0.957000	0.61999	2.596000	0.46205	-0.066000	0.12998	0.655000	0.94253	CGG		0.687	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253	
SPEG	10290	hgsc.bcm.edu;ucsc.edu	37	2	220354242	220354242	+	Silent	SNP	G	G	A	rs148685205	byFrequency	TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr2:220354242G>A	ENST00000312358.7	+	36	8634	c.8502G>A	c.(8500-8502)tcG>tcA	p.S2834S	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2834	Pro-rich.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCTTGTCCTCGCTCAAGGCTG	0.682													G|||	11	0.00219649	0.0008	0.0	5008	,	,		9136	0.0079		0.001	False		,,,				2504	0.001					.											0								G		1,3893		0,1,1946	43.0	48.0	46.0		8502	-10.1	0.8	2	dbSNP_134	46	0,8246		0,0,4123	no	coding-synonymous	SPEG	NM_005876.4		0,1,6069	AA,AG,GG		0.0,0.0257,0.0082		2834/3268	220354242	1,12139	1947	4123	6070	SO:0001819	synonymous_variant	10290			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.8502G>A	2.37:g.220354242G>A			A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	ENST00000312358.7	37	CCDS42824.1																																																																																				0.682	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876	
MROH2B	133558	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	5	41045851	41045851	+	Silent	SNP	C	C	T			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr5:41045851C>T	ENST00000399564.4	-	18	2283	c.1833G>A	c.(1831-1833)gaG>gaA	p.E611E	MROH2B_ENST00000506092.2_Silent_p.E166E	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	611								p.E611E(1)									AACCAACCTTCTCAGTGGAGT	0.443																																						.											1	Substitution - coding silent(1)	kidney(1)											170.0	162.0	164.0					5																	41045851		1949	4152	6101	SO:0001819	synonymous_variant	133558				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.1833G>A	5.37:g.41045851C>T			Q68DM1|Q7Z4U4|Q8N7X3	Silent	SNP	ENST00000399564.4	37	CCDS47202.1																																																																																				0.443	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489	
ELFN1	392617	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	7	1785380	1785380	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr7:1785380C>T	ENST00000424383.2	+	3	1635	c.1148C>T	c.(1147-1149)tCc>tTc	p.S383F	ELFN1_ENST00000561626.1_Missense_Mutation_p.S383F|ELFN1_ENST00000541472.1_Missense_Mutation_p.S383F			P0C7U0	ELFN1_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 1	383	Fibronectin type-III.				negative regulation of phosphatase activity (GO:0010923)|synapse organization (GO:0050808)	dendrite (GO:0030425)|excitatory synapse (GO:0060076)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)	1						TGCGTGGTGTCCACCAGCGCC	0.672																																						.											0													63.0	61.0	62.0					7																	1785380		692	1591	2283	SO:0001583	missense	392617				CCDS59046.1	7p22.3	2013-02-11	2011-10-27	2011-10-27	ENSG00000225968	ENSG00000225968		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	33154	protein-coding gene	gene with protein product		614964	"""extracellular leucine-rich repeat and fibronectin type III containing 1"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 1"", ""protein phosphatase 1, regulatory subunit 28"""	PPP1R28		17868438	Standard	NM_001128636		Approved		uc010ksg.2	P0C7U0	OTTHUMG00000151495	ENST00000424383.2:c.1148C>T	7.37:g.1785380C>T	ENSP00000456548:p.Ser383Phe		H3BS57	Missense_Mutation	SNP	ENST00000424383.2	37	CCDS59046.1																																																																																				0.672	ELFN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322893.2	NM_001128636	
MLLT3	4300	hgsc.bcm.edu	37	9	20414341	20414343	+	In_Frame_Del	DEL	CTA	CTA	-	rs372894655	byFrequency	TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	CTA	CTA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr9:20414341_20414343delCTA	ENST00000380338.4	-	5	787_789	c.501_503delTAG	c.(499-504)agtagc>agc	p.167_168SS>S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_In_Frame_Del_p.164_165SS>S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		gctgctgctgctactgctgctgc	0.532			T	MLL	ALL																																	.		Dom	yes		9	9p22	4300	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""		L	19	Substitution - coding silent(19)	lung(8)|kidney(5)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|prostate(1)								369,2479		91,187,1146						4.9	1.0			13	562,5562		125,312,2625	no	coding	MLLT3	NM_004529.2		216,499,3771	A1A1,A1R,RR		9.177,12.9565,10.3767				931,8041				SO:0001651	inframe_deletion	4300			L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.501_503delTAG	9.37:g.20414341_20414343delCTA	ENSP00000369695:p.Ser190del		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	In_Frame_Del	DEL	ENST00000380338.4	37	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529	
AMPD2	271	broad.mit.edu	37	1	110169839	110169839	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr1:110169839A>G	ENST00000256578.3	+	7	1283	c.923A>G	c.(922-924)gAg>gGg	p.E308G	AMPD2_ENST00000528454.1_Missense_Mutation_p.E190G|AMPD2_ENST00000393688.3_Missense_Mutation_p.E189G|AMPD2_ENST00000342115.4_Missense_Mutation_p.E227G|AMPD2_ENST00000358729.4_Missense_Mutation_p.E233G|AMPD2_ENST00000528667.1_Missense_Mutation_p.E308G|AMPD2_ENST00000526301.1_3'UTR|RP5-1160K1.6_ENST00000369843.3_RNA	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	308					cell death (GO:0008219)|cyclic purine nucleotide metabolic process (GO:0052652)|energy homeostasis (GO:0097009)|IMP biosynthetic process (GO:0006188)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		CACCCGTATGAGCACTGTGAG	0.662																																						.											0													81.0	88.0	86.0					1																	110169839		2203	4300	6503	SO:0001583	missense	271			S47833	CCDS804.1, CCDS805.1, CCDS30796.1, CCDS58016.1	1p13.3	2014-03-03	2010-02-10		ENSG00000116337	ENSG00000116337	3.5.4.6		469	protein-coding gene	gene with protein product	"""AMPD isoform L"""	102771	"""adenosine monophosphate deaminase 2 (isoform L)"""			1400401, 24482476	Standard	NM_004037		Approved	SPG63	uc009wfh.2	Q01433	OTTHUMG00000011649	ENST00000256578.3:c.923A>G	1.37:g.110169839A>G	ENSP00000256578:p.Glu308Gly		B4DK50|B4DZI5|E9PNG0|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4	Missense_Mutation	SNP	ENST00000256578.3	37	CCDS805.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.18|16.18	3.048861|3.048861	0.55110|0.55110	.|.	.|.	ENSG00000116337|ENSG00000116337	ENST00000342115;ENST00000528667;ENST00000256578;ENST00000358729;ENST00000528454;ENST00000393688|ENST00000369840	D;D;D;D;D;D|.	0.83419|.	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72|.	4.71|4.71	4.71|4.71	0.59529|0.59529	.|.	0.129125|.	0.51477|.	D|.	0.000096|.	T|.	0.45677|.	0.1354|.	L|L	0.40543|0.40543	1.245|1.245	0.49915|0.49915	D|D	0.999834|0.999834	P;B;B;B|.	0.35908|.	0.527;0.001;0.001;0.31|.	B;B;B;B|.	0.32624|.	0.149;0.003;0.002;0.084|.	T|.	0.43180|.	-0.9407|.	10|.	0.36615|.	T|.	0.2|.	-32.0982|-32.0982	13.3042|13.3042	0.60342|0.60342	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	233;189;308;227|.	Q01433-4;Q01433-3;Q01433;Q01433-2|.	.;.;AMPD2_HUMAN;.|.	G|W	227;308;308;233;190;189|278	ENSP00000345498:E227G;ENSP00000436541:E308G;ENSP00000256578:E308G;ENSP00000351573:E233G;ENSP00000437164:E190G;ENSP00000377292:E189G|.	ENSP00000256578:E308G|.	E|X	+|+	2|3	0|0	AMPD2|AMPD2	109971362|109971362	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.910000|0.910000	0.53928|0.53928	5.672000|5.672000	0.68102|0.68102	1.974000|1.974000	0.57490|0.57490	0.379000|0.379000	0.24179|0.24179	GAG|TGA		0.662	AMPD2-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390615.1		
MSRB2	22921	broad.mit.edu	37	10	23399207	23399207	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr10:23399207G>A	ENST00000376510.3	+	3	359	c.256G>A	c.(256-258)Gga>Aga	p.G86R		NM_012228.3	NP_036360.3	Q9Y3D2	MSRB2_HUMAN	methionine sulfoxide reductase B2	86					actin filament polymerization (GO:0030041)|protein repair (GO:0030091)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)	actin binding (GO:0003779)|peptide-methionine (R)-S-oxide reductase activity (GO:0033743)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	9					L-Methionine(DB00134)	CAAGGAAGCAGGAATGTATCA	0.433																																					Esophageal Squamous(89;1240 1363 4973 30188 42299)	.											0													101.0	97.0	99.0					10																	23399207		1932	4138	6070	SO:0001583	missense	22921			AF122004	CCDS41495.1	10p12	2004-12-07	2004-12-06	2004-12-07	ENSG00000148450	ENSG00000148450			17061	protein-coding gene	gene with protein product		613782	"""methionine sulfoxide reductase B"""	MSRB		8749308, 10375640	Standard	NM_012228		Approved	PILB, CGI-131, CBS1, CBS-1	uc001iro.3	Q9Y3D2	OTTHUMG00000017812	ENST00000376510.3:c.256G>A	10.37:g.23399207G>A	ENSP00000365693:p.Gly86Arg		Q17R44|Q4G1C7|Q9Y5W6	Missense_Mutation	SNP	ENST00000376510.3	37	CCDS41495.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.420404	0.83559	.	.	ENSG00000148450	ENST00000376510	D	0.93247	-3.19	5.83	5.83	0.93111	Mss4-like (1);Methionine sulphoxide reductase B (3);	0.000000	0.85682	D	0.000000	D	0.98220	0.9411	H	0.98199	4.17	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99215	1.0877	10	0.87932	D	0	-21.1633	18.8761	0.92337	0.0:0.0:1.0:0.0	.	86	Q9Y3D2	MSRB2_HUMAN	R	86	ENSP00000365693:G86R	ENSP00000365693:G86R	G	+	1	0	MSRB2	23439213	1.000000	0.71417	0.289000	0.24876	0.741000	0.42261	7.676000	0.84012	2.762000	0.94881	0.655000	0.94253	GGA		0.433	MSRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047205.1	NM_012228	
MTA2	9219	broad.mit.edu	37	11	62367694	62367694	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr11:62367694A>G	ENST00000278823.2	-	3	523	c.134T>C	c.(133-135)cTt>cCt	p.L45P	MTA2_ENST00000527204.1_5'UTR|MTA2_ENST00000524902.1_5'Flank	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	45	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin assembly or disassembly (GO:0006333)|DNA methylation (GO:0006306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	histone deacetylase complex (GO:0000118)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|histone deacetylase activity (GO:0004407)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						gcgccggaaaagacagacaac	0.443																																						.											0													125.0	125.0	125.0					11																	62367694		2202	4299	6501	SO:0001583	missense	9219			AB016591	CCDS8022.1	11q12-q13.1	2013-01-25	2004-12-15	2003-12-17	ENSG00000149480	ENSG00000149480		"""GATA zinc finger domain containing"""	7411	protein-coding gene	gene with protein product		603947	"""metastasis associated gene family, member 2"""	MTA1L1		9929979	Standard	NM_004739		Approved	MTA1-L1	uc001ntq.2	O94776	OTTHUMG00000167684	ENST00000278823.2:c.134T>C	11.37:g.62367694A>G	ENSP00000278823:p.Leu45Pro		Q68DB1|Q9UQB5	Missense_Mutation	SNP	ENST00000278823.2	37	CCDS8022.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.589262	0.86851	.	.	ENSG00000149480	ENST00000278823	D	0.86432	-2.12	5.56	5.56	0.83823	Bromo adjacent homology (BAH) domain (3);	0.000000	0.85682	D	0.000000	D	0.85639	0.5743	N	0.08118	0	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	D	0.87777	0.2609	10	0.56958	D	0.05	-13.1504	12.1235	0.53905	1.0:0.0:0.0:0.0	.	45	O94776	MTA2_HUMAN	P	45	ENSP00000278823:L45P	ENSP00000278823:L45P	L	-	2	0	MTA2	62124270	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.461000	0.66699	2.125000	0.65367	0.533000	0.62120	CTT		0.443	MTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395578.1	NM_004739	
DMXL2	23312	broad.mit.edu	37	15	51787229	51787229	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr15:51787229A>G	ENST00000251076.5	-	19	5062	c.4775T>C	c.(4774-4776)cTt>cCt	p.L1592P	DMXL2_ENST00000543779.2_Missense_Mutation_p.L1592P|DMXL2_ENST00000449909.3_Missense_Mutation_p.L956P|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1592						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ACCTTGATGAAGTAGCTGCAC	0.403																																						.											0													106.0	95.0	99.0					15																	51787229		2195	4293	6488	SO:0001583	missense	23312			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.4775T>C	15.37:g.51787229A>G	ENSP00000251076:p.Leu1592Pro		B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.602697	0.87157	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.41758	0.99;0.99;0.99	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.61652	0.2364	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.965;0.998;0.999	T	0.62950	-0.6745	10	0.56958	D	0.05	.	15.7131	0.77646	1.0:0.0:0.0:0.0	.	1592;956;1592	F5GWF1;B2RTR3;Q8TDJ6	.;.;DMXL2_HUMAN	P	1592;1592;956	ENSP00000251076:L1592P;ENSP00000441858:L1592P;ENSP00000400855:L956P	ENSP00000251076:L1592P	L	-	2	0	DMXL2	49574521	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	8.930000	0.92872	2.194000	0.70268	0.482000	0.46254	CTT		0.403	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263	
CHTF18	63922	broad.mit.edu	37	16	840180	840180	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr16:840180T>C	ENST00000262315.9	+	5	673	c.610T>C	c.(610-612)Tct>Cct	p.S204P	RPUSD1_ENST00000565809.1_5'Flank|CHTF18_ENST00000317063.6_Missense_Mutation_p.S401P|CHTF18_ENST00000455171.2_Missense_Mutation_p.S232P|RPUSD1_ENST00000007264.2_5'Flank|RPUSD1_ENST00000561734.1_5'Flank|CHTF18_ENST00000491530.1_3'UTR|RPUSD1_ENST00000567114.1_5'Flank	NM_022092.2	NP_071375.1	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	204					cell cycle (GO:0007049)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				CCCACAGGGCTCTCTCCTCCA	0.657																																						.											0													32.0	36.0	35.0					16																	840180		2047	4196	6243	SO:0001583	missense	63922			BC018184	CCDS45371.1	16p13.3	2010-04-21	2003-12-09		ENSG00000127586	ENSG00000127586		"""ATPases / AAA-type"""	18435	protein-coding gene	gene with protein product		613201	"""chromosome 16 open reading frame 41"""	C16orf41		12171929	Standard	NM_022092		Approved	CHL12, C321D2.4, Ctf18	uc002cke.4	Q8WVB6	OTTHUMG00000047838	ENST00000262315.9:c.610T>C	16.37:g.840180T>C	ENSP00000262315:p.Ser204Pro		B7ZBA2|D3DU68|Q7Z6Y4|Q7Z6Y6|Q9BR83|Q9BRG5|Q9H7K3	Missense_Mutation	SNP	ENST00000262315.9	37	CCDS45371.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.836|8.836	0.941125|0.941125	0.18281|0.18281	.|.	.|.	ENSG00000127586|ENSG00000127586	ENST00000426047|ENST00000317063;ENST00000455171;ENST00000262315	.|T;T;T	.|0.11169	.|2.8;2.86;2.86	4.9|4.9	0.411|0.411	0.16392|0.16392	.|.	.|1.230480	.|0.05417	.|N	.|0.543613	T|T	0.03178|0.03178	0.0093|0.0093	N|N	0.00841|0.00841	-1.15|-1.15	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.06405	.|0.0;0.002;0.0	T|T	0.37361|0.37361	-0.9709|-0.9709	5|10	.|0.26408	.|T	.|0.33	-3.3244|-3.3244	4.3262|4.3262	0.11041|0.11041	0.0:0.6021:0.185:0.2129|0.0:0.6021:0.185:0.2129	.|.	.|204;232;204	.|B4DEY3;Q8WVB6-2;Q8WVB6	.|.;.;CTF18_HUMAN	P|P	99|401;232;204	.|ENSP00000313029:S401P;ENSP00000406252:S232P;ENSP00000262315:S204P	.|ENSP00000262315:S204P	L|S	+|+	2|1	0|0	CHTF18|CHTF18	780181|780181	0.000000|0.000000	0.05858|0.05858	0.003000|0.003000	0.11579|0.11579	0.002000|0.002000	0.02628|0.02628	0.161000|0.161000	0.16481|0.16481	1.123000|1.123000	0.41961|0.41961	-0.876000|-0.876000	0.02978|0.02978	CTC|TCT		0.657	CHTF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109061.3	NM_022092	
ATAD5	79915	broad.mit.edu	37	17	29161986	29161986	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr17:29161986T>C	ENST00000321990.4	+	2	1265	c.887T>C	c.(886-888)gTc>gCc	p.V296A	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	296					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TCTGAAACTGTCGACGAAATA	0.363																																						.											0													43.0	45.0	45.0					17																	29161986		2203	4299	6502	SO:0001583	missense	79915				CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.887T>C	17.37:g.29161986T>C	ENSP00000313171:p.Val296Ala		Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	T	5.654	0.305365	0.10678	.	.	ENSG00000176208	ENST00000321990	T	0.14266	2.52	5.91	-0.71	0.11234	.	1.819450	0.02672	N	0.108661	T	0.07728	0.0194	N	0.21448	0.665	0.09310	N	1	B;B	0.16603	0.018;0.003	B;B	0.12156	0.007;0.001	T	0.21075	-1.0256	10	0.08837	T	0.75	.	1.8808	0.03227	0.1166:0.3259:0.2497:0.3077	.	296;296	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	A	296	ENSP00000313171:V296A	ENSP00000313171:V296A	V	+	2	0	ATAD5	26186112	0.010000	0.17322	0.001000	0.08648	0.567000	0.35839	-0.188000	0.09642	-0.091000	0.12440	0.533000	0.62120	GTC		0.363	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857	
BPTF	2186	broad.mit.edu;mdanderson.org	37	17	65889530	65889530	+	Silent	SNP	C	C	T			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr17:65889530C>T	ENST00000321892.4	+	8	2539	c.2478C>T	c.(2476-2478)acC>acT	p.T826T	BPTF_ENST00000424123.3_Silent_p.T687T|BPTF_ENST00000306378.6_Silent_p.T700T|BPTF_ENST00000335221.5_Silent_p.T826T			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	826					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GGTTGAGCACCAAAAAGGAAG	0.343																																						.											0													55.0	53.0	53.0					17																	65889530		2202	4300	6502	SO:0001819	synonymous_variant	2186			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.2478C>T	17.37:g.65889530C>T			Q6NX67|Q7Z7D6|Q9UIG2	Silent	SNP	ENST00000321892.4	37																																																																																					0.343	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459	
SPINT2	10653	broad.mit.edu;mdanderson.org	37	19	38782514	38782514	+	Silent	SNP	G	G	A			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr19:38782514G>A	ENST00000301244.7	+	7	1062	c.627G>A	c.(625-627)ttG>ttA	p.L209L	CTB-102L5.4_ENST00000591889.1_Intron|Y_RNA_ENST00000363339.1_RNA|SPINT2_ENST00000454580.3_Silent_p.L152L|SPINT2_ENST00000587090.1_Silent_p.L159L	NM_021102.3	NP_066925.1	O43291	SPIT2_HUMAN	serine peptidase inhibitor, Kunitz type, 2	209					cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			large_intestine(2)|lung(1)|ovary(1)	4	all_cancers(60;6.83e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TGATGGTGTTGATCCTCTTCC	0.647																																						.											0													89.0	71.0	77.0					19																	38782514		2203	4300	6503	SO:0001819	synonymous_variant	10653			U78095	CCDS12510.1, CCDS54261.1	19q13.2	2010-05-12	2005-08-17		ENSG00000167642	ENSG00000167642			11247	protein-coding gene	gene with protein product	"""placental bikunin"""	605124	"""serine protease inhibitor, Kunitz type, 2"""			9115294, 9346890	Standard	NM_021102		Approved	Kop, HAI-2	uc002ohr.2	O43291		ENST00000301244.7:c.627G>A	19.37:g.38782514G>A			A8K667|B4DLU1|O00271|O14895|Q5TZQ3|Q969E0	Silent	SNP	ENST00000301244.7	37	CCDS12510.1																																																																																				0.647	SPINT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458151.2		
USP29	57663	broad.mit.edu;mdanderson.org;bcgsc.ca	37	19	57641826	57641826	+	Missense_Mutation	SNP	G	G	A	rs141050797		TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr19:57641826G>A	ENST00000254181.4	+	4	2237	c.1783G>A	c.(1783-1785)Gtt>Att	p.V595I	USP29_ENST00000598197.1_Missense_Mutation_p.V595I	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	595	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGTTCTACCCGTTGAACCAGA	0.488													A|||	1	0.000199681	0.0008	0.0	5008	,	,		19382	0.0		0.0	False		,,,				2504	0.0					.											0								A	ILE/VAL	3,4403	824.5+/-416.5	0,3,2200	69.0	68.0	68.0		1783	-4.2	0.0	19	dbSNP_134	68	0,8600		0,0,4300	yes	missense	USP29	NM_020903.2	29	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign	595/923	57641826	3,13003	2203	4300	6503	SO:0001583	missense	57663				CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.1783G>A	19.37:g.57641826G>A	ENSP00000254181:p.Val595Ile			Missense_Mutation	SNP	ENST00000254181.4	37	CCDS33124.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	0.004	-2.321542	0.00232	6.81E-4	0.0	ENSG00000131864	ENST00000254181	T	0.48522	0.81	2.09	-4.19	0.03835	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	.	.	.	.	T	0.14356	0.0347	N	0.01048	-1.04	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.23762	-1.0179	9	0.06236	T	0.91	-0.3075	10.5526	0.45099	0.4498:0.0:0.5502:0.0	.	595	Q9HBJ7	UBP29_HUMAN	I	595	ENSP00000254181:V595I	ENSP00000254181:V595I	V	+	1	0	USP29	62333638	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.795000	0.04580	-2.562000	0.00473	-2.832000	0.00106	GTT		0.488	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1		
FBXO41	150726	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	73493739	73493739	+	Missense_Mutation	SNP	T	T	G			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr2:73493739T>G	ENST00000521871.1	-	3	1392	c.977A>C	c.(976-978)cAg>cCg	p.Q326P	FBXO41_ENST00000295133.5_Missense_Mutation_p.Q387P|FBXO41_ENST00000520530.2_Missense_Mutation_p.Q326P			Q8TF61	FBX41_HUMAN	F-box protein 41	326										breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						AATGAACTGCTGCAGCCGCAG	0.677																																						.											0													26.0	30.0	29.0					2																	73493739		2012	4173	6185	SO:0001583	missense	150726			AB075820	CCDS46337.1, CCDS46337.2	2p13.2	2004-08-24				ENSG00000163013		"""F-boxes /  ""other"""""	29409	protein-coding gene	gene with protein product		609108				11853319	Standard	NM_001080410		Approved	KIAA1940, Fbx41	uc021vjh.1	Q8TF61		ENST00000521871.1:c.977A>C	2.37:g.73493739T>G	ENSP00000428646:p.Gln326Pro		G3V0Z7|Q2M1V8	Missense_Mutation	SNP	ENST00000521871.1	37	CCDS46337.2	.	.	.	.	.	.	.	.	.	.	T	18.00	3.525616	0.64860	.	.	ENSG00000163013	ENST00000295133;ENST00000521871;ENST00000520530	T;T	0.39997	1.05;1.05	5.17	5.17	0.71159	.	0.198803	0.44902	D	0.000409	T	0.60676	0.2287	L	0.61218	1.895	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.63024	-0.6729	10	0.56958	D	0.05	.	13.8113	0.63266	0.0:0.0:0.0:1.0	.	326	Q8TF61	FBX41_HUMAN	P	387;326;387	ENSP00000295133:Q387P;ENSP00000428646:Q326P	ENSP00000295133:Q387P	Q	-	2	0	FBXO41	73347247	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	6.001000	0.70685	1.948000	0.56530	0.372000	0.22366	CAG		0.677	FBXO41-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377381.1		
TMEM127	55654	broad.mit.edu	37	2	96920609	96920609	+	Missense_Mutation	SNP	T	T	C	rs377430566		TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr2:96920609T>C	ENST00000258439.3	-	3	627	c.371A>G	c.(370-372)aAg>aGg	p.K124R	TMEM127_ENST00000435268.1_Missense_Mutation_p.K40R|TMEM127_ENST00000432959.1_Missense_Mutation_p.K124R	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN	transmembrane protein 127	124					negative regulation of cell proliferation (GO:0008285)|negative regulation of TOR signaling (GO:0032007)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						ACGAGTGATCTTCAGAGCAGG	0.582																																						.											0								T	ARG/LYS,ARG/LYS	1,4405	2.1+/-5.4	0,1,2202	158.0	152.0	154.0		371,371	5.9	1.0	2		154	0,8600		0,0,4300	no	missense,missense	TMEM127	NM_001193304.2,NM_017849.3	26,26	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	probably-damaging,probably-damaging	124/239,124/239	96920609	1,13005	2203	4300	6503	SO:0001583	missense	55654			AK000514	CCDS2018.1	2q11.2	2014-09-17			ENSG00000135956	ENSG00000135956			26038	protein-coding gene	gene with protein product		613403				10493829	Standard	NM_017849		Approved	FLJ20507, FLJ22257	uc002svr.3	O75204	OTTHUMG00000130454	ENST00000258439.3:c.371A>G	2.37:g.96920609T>C	ENSP00000258439:p.Lys124Arg		D3DXH0	Missense_Mutation	SNP	ENST00000258439.3	37	CCDS2018.1	.	.	.	.	.	.	.	.	.	.	T	18.42	3.619625	0.66787	2.27E-4	0.0	ENSG00000135956	ENST00000258439;ENST00000432959;ENST00000435268	D;D;D	0.83506	-1.73;-1.73;-1.73	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.78792	0.4339	N	0.03608	-0.345	0.80722	D	1	D	0.56035	0.974	D	0.67725	0.953	T	0.78028	-0.2364	10	0.16420	T	0.52	-27.9347	15.3262	0.74164	0.0:0.0:0.0:1.0	.	124	O75204	TM127_HUMAN	R	124;124;40	ENSP00000258439:K124R;ENSP00000416660:K124R;ENSP00000411810:K40R	ENSP00000258439:K124R	K	-	2	0	TMEM127	96284336	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.589000	0.82641	2.269000	0.75478	0.533000	0.62120	AAG		0.582	TMEM127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252845.3	NM_017849	
INPP4A	3631	broad.mit.edu;mdanderson.org	37	2	99163146	99163146	+	Silent	SNP	G	G	A			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr2:99163146G>A	ENST00000523221.1	+	11	1152	c.1152G>A	c.(1150-1152)gaG>gaA	p.E384E	INPP4A_ENST00000074304.5_Silent_p.E384E|INPP4A_ENST00000545415.1_Silent_p.E384E|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000409851.3_Silent_p.E384E|INPP4A_ENST00000409540.3_Silent_p.E384E|INPP4A_ENST00000409016.4_Silent_p.E384E			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	384					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						AATTTGAAGAGACCAAGAAAC	0.438																																						.											0													55.0	56.0	56.0					2																	99163146		1874	4115	5989	SO:0001819	synonymous_variant	3631			U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"""inositol polyphosphate-4-phosphatase, type I, 107kD"""	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.1152G>A	2.37:g.99163146G>A			O15326|Q13187|Q53TD8|Q8TC02	Silent	SNP	ENST00000523221.1	37	CCDS46369.1																																																																																				0.438	INPP4A-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376095.1	NM_001566	
TUBA4A	7277	broad.mit.edu	37	2	220115802	220115802	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr2:220115802C>T	ENST00000248437.4	-	4	792	c.619G>A	c.(619-621)Gaa>Aaa	p.E207K	TUBA4A_ENST00000392088.2_Missense_Mutation_p.E192K|TUBA4A_ENST00000498660.1_5'UTR|TUBA4B_ENST00000490341.1_RNA	NM_006000.2	NP_005991.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	207					'de novo' posttranslational protein folding (GO:0051084)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Cabazitaxel(DB06772)|Podofilox(DB01179)|Vincristine(DB00541)	TAGATTGCTTCGTTGTCCACC	0.562																																						.											0													117.0	115.0	116.0					2																	220115802		2203	4300	6503	SO:0001583	missense	7277			AK054731	CCDS2438.1, CCDS63131.1	2q36.1	2012-10-02	2007-02-12	2007-02-12	ENSG00000127824	ENSG00000127824		"""Tubulins"""	12407	protein-coding gene	gene with protein product		191110	"""tubulin, alpha 1 (testis specific)"", ""tubulin, alpha 1"""	TUBA1		3785200	Standard	NM_006000		Approved	FLJ30169, H2-ALPHA	uc002vkt.1	P68366	OTTHUMG00000133126	ENST00000248437.4:c.619G>A	2.37:g.220115802C>T	ENSP00000248437:p.Glu207Lys		A8MUB1|B3KNQ6|P05215	Missense_Mutation	SNP	ENST00000248437.4	37	CCDS2438.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.323188	0.60634	.	.	ENSG00000127824	ENST00000248437;ENST00000392088;ENST00000398989	T;T;T	0.70631	-0.5;-0.5;-0.5	5.44	5.44	0.79542	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.85682	D	0.000000	D	0.83348	0.5235	H	0.94847	3.59	0.80722	D	1	P	0.43477	0.808	P	0.44946	0.465	D	0.87852	0.2658	10	0.87932	D	0	.	19.4628	0.94924	0.0:1.0:0.0:0.0	.	207	P68366	TBA4A_HUMAN	K	207;192;54	ENSP00000248437:E207K;ENSP00000375938:E192K;ENSP00000396212:E54K	ENSP00000248437:E207K	E	-	1	0	TUBA4A	219824046	1.000000	0.71417	0.982000	0.44146	0.712000	0.41017	7.538000	0.82048	2.837000	0.97791	0.655000	0.94253	GAA		0.562	TUBA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256816.3	NM_006000	
SEPT2	4735	broad.mit.edu;ucsc.edu;mdanderson.org	37	2	242283310	242283310	+	Silent	SNP	C	C	A			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr2:242283310C>A	ENST00000391973.2	+	9	1368	c.840C>A	c.(838-840)ctC>ctA	p.L280L	SEPT2_ENST00000360051.3_Silent_p.L280L|SEPT2_ENST00000407971.1_Silent_p.L240L|SEPT2_ENST00000391971.2_Silent_p.L280L|SEPT2_ENST00000402092.2_Silent_p.L280L|SEPT2_ENST00000401990.1_Silent_p.L290L	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	280	Septin-type G.				cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|neuron projection development (GO:0031175)|regulation of L-glutamate transport (GO:0002036)|regulation of protein localization (GO:0032880)|smoothened signaling pathway (GO:0007224)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|synapse (GO:0045202)	enzyme regulator activity (GO:0030234)|GTP binding (GO:0005525)			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		GAACCATGCTCATGTAAGACA	0.507																																						.											0													168.0	160.0	163.0					2																	242283310		2203	4300	6503	SO:0001819	synonymous_variant	4735			D28540	CCDS2548.1, CCDS63195.1, CCDS74682.1	2q37.3	2013-01-21	2005-01-11	2005-01-12	ENSG00000168385	ENSG00000168385		"""Septins"""	7729	protein-coding gene	gene with protein product		601506	"""neural precursor cell expressed, developmentally down-regulated 5"""	DIFF6, NEDD5		8697812	Standard	XM_005247011		Approved	KIAA0158, hNedd5, Pnutl3	uc002wbd.3	Q15019	OTTHUMG00000133394	ENST00000391973.2:c.840C>A	2.37:g.242283310C>A			B4DGE8|Q14132|Q53QU3|Q8IUK9|Q96CB0	Silent	SNP	ENST00000391973.2	37	CCDS2548.1																																																																																				0.507	SEPT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323177.3	NM_006155	
IFNAR1	3454	broad.mit.edu	37	21	34727798	34727798	+	Silent	SNP	T	T	C			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr21:34727798T>C	ENST00000270139.3	+	11	1769	c.1617T>C	c.(1615-1617)tcT>tcC	p.S539S	IFNAR1_ENST00000442357.2_Silent_p.S478S|IFNAR1_ENST00000416947.2_Silent_p.S470S	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN	interferon (alpha, beta and omega) receptor 1	539					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to virus (GO:0009615)|T cell activation (GO:0042110)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	type I interferon receptor activity (GO:0004905)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					"""""""Interferon Alfa-2a(DB00034)|""""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Natural alpha interferon(DB05258)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"""	GAAATTATTCTAATGAAGATG	0.333																																					Esophageal Squamous(73;817 1211 32990 35667 42746)	.											0													86.0	94.0	91.0					21																	34727798		2203	4300	6503	SO:0001819	synonymous_variant	3454				CCDS13624.1	21q22.1	2008-05-02			ENSG00000142166	ENSG00000142166		"""Interferons"""	5432	protein-coding gene	gene with protein product		107450		IFNAR		8181059	Standard	NM_000629		Approved	IFRC	uc002yrn.3	P17181	OTTHUMG00000065126	ENST00000270139.3:c.1617T>C	21.37:g.34727798T>C			B2R6L9|B4DNT3|D3DSF0|Q53GW9|Q53H11|Q6PKD7|Q7M4L2|Q8WTZ2	Silent	SNP	ENST00000270139.3	37	CCDS13624.1																																																																																				0.333	IFNAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139823.4		
DIP2A	23181	broad.mit.edu	37	21	47970588	47970588	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr21:47970588C>T	ENST00000417564.2	+	23	2791	c.2770C>T	c.(2770-2772)Ccg>Tcg	p.P924S	DIP2A_ENST00000427143.2_Missense_Mutation_p.P860S|DIP2A_ENST00000400274.1_Missense_Mutation_p.P920S|DIP2A_ENST00000318711.7_Missense_Mutation_p.P925S			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	924					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GACGCTGCACCCGTGTAATGT	0.532																																						.											0													77.0	76.0	76.0					21																	47970588		2048	4208	6256	SO:0001583	missense	23181			AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.2770C>T	21.37:g.47970588C>T	ENSP00000392066:p.Pro924Ser		A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	ENST00000417564.2	37	CCDS46655.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.900007	0.92035	.	.	ENSG00000160305	ENST00000400274;ENST00000427143;ENST00000318711;ENST00000417564	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.64114	0.2569	M	0.76574	2.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.994	T	0.58476	-0.7630	10	0.19590	T	0.45	-30.2615	18.2448	0.89981	0.0:1.0:0.0:0.0	.	925;860;924	E9PER1;E7EMA5;Q14689	.;.;DIP2A_HUMAN	S	920;860;925;924	ENSP00000383133:P920S;ENSP00000400528:P860S;ENSP00000323633:P925S;ENSP00000392066:P924S	ENSP00000323633:P925S	P	+	1	0	DIP2A	46795016	1.000000	0.71417	0.997000	0.53966	0.876000	0.50452	7.680000	0.84062	2.639000	0.89480	0.655000	0.94253	CCG		0.532	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151	
NAGA	4668	broad.mit.edu;ucsc.edu;mdanderson.org	37	22	42456379	42456379	+	Silent	SNP	G	G	A			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr22:42456379G>A	ENST00000396398.3	-	9	1672	c.1140C>T	c.(1138-1140)ctC>ctT	p.L380L	NAGA_ENST00000402937.1_Silent_p.L380L|NAGA_ENST00000403363.1_Silent_p.L380L	NM_000262.2	NP_000253.1	P17050	NAGAB_HUMAN	N-acetylgalactosaminidase, alpha-	380					carbohydrate catabolic process (GO:0016052)|glycolipid catabolic process (GO:0019377)|glycoside catabolic process (GO:0016139)|glycosylceramide catabolic process (GO:0046477)|oligosaccharide metabolic process (GO:0009311)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-galactosidase activity (GO:0004557)|alpha-N-acetylgalactosaminidase activity (GO:0008456)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						TTTCATCTCGGAGGCCACTGA	0.567																																						.											0													179.0	158.0	165.0					22																	42456379		2203	4300	6503	SO:0001819	synonymous_variant	4668				CCDS14030.1	22q13.2	2010-07-09			ENSG00000198951	ENSG00000198951	3.2.1.49		7631	protein-coding gene	gene with protein product		104170					Standard	NM_000262		Approved	D22S674	uc003bbw.4	P17050	OTTHUMG00000151276	ENST00000396398.3:c.1140C>T	22.37:g.42456379G>A				Silent	SNP	ENST00000396398.3	37	CCDS14030.1																																																																																				0.567	NAGA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322056.1		
RFT1	91869	broad.mit.edu	37	3	53139767	53139767	+	Silent	SNP	G	G	A			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr3:53139767G>A	ENST00000296292.3	-	9	940	c.879C>T	c.(877-879)ttC>ttT	p.F293F	RFT1_ENST00000394738.3_Silent_p.F254F	NM_052859.3	NP_443091.1	Q96AA3	RFT1_HUMAN	RFT1 homolog (S. cerevisiae)	293					carbohydrate transport (GO:0008643)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)	lipid transporter activity (GO:0005319)			NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		CTATTGGCTGGAAAATTAATC	0.358																																						.											0													54.0	60.0	58.0					3																	53139767		2203	4300	6503	SO:0001819	synonymous_variant	91869			AJ318099	CCDS2869.1	3p21.1	2014-02-06	2005-01-26		ENSG00000163933	ENSG00000163933			30220	protein-coding gene	gene with protein product	"""congenital disorder of glycosylation 1N"""	611908	"""RFT1, requiring fifty three 1 homolog (S. cerevisiae)"""			12477932	Standard	NM_052859		Approved	CDG1N	uc003dgj.3	Q96AA3	OTTHUMG00000074035	ENST00000296292.3:c.879C>T	3.37:g.53139767G>A			Q96J03	Silent	SNP	ENST00000296292.3	37	CCDS2869.1																																																																																				0.358	RFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157136.2	NM_052859	
ALCAM	214	broad.mit.edu	37	3	105269023	105269023	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr3:105269023C>T	ENST00000306107.5	+	12	1927	c.1427C>T	c.(1426-1428)tCc>tTc	p.S476F	ALCAM_ENST00000486979.2_Missense_Mutation_p.S425F|ALCAM_ENST00000472644.2_Missense_Mutation_p.S476F|ALCAM_ENST00000389927.4_Missense_Mutation_p.S198F	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	476	Ig-like C2-type 3.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|motor neuron axon guidance (GO:0008045)|signal transduction (GO:0007165)	axon (GO:0030424)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	receptor binding (GO:0005102)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						ATTATCATTTCCCCTGAAGAG	0.343																																						.											0													91.0	110.0	104.0					3																	105269023		2201	4294	6495	SO:0001583	missense	214			AK054632	CCDS33810.1, CCDS58841.1	3q13.1	2013-01-29	2002-08-08		ENSG00000170017	ENSG00000170017		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	400	protein-coding gene	gene with protein product		601662	"""activated leucocyte cell adhesion molecule"""			7760007	Standard	NM_001627		Approved	CD166, MEMD	uc003dvx.3	Q13740	OTTHUMG00000159192	ENST00000306107.5:c.1427C>T	3.37:g.105269023C>T	ENSP00000305988:p.Ser476Phe		B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Missense_Mutation	SNP	ENST00000306107.5	37	CCDS33810.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.187352	0.78789	.	.	ENSG00000170017	ENST00000306107;ENST00000472644;ENST00000486979;ENST00000389927	T;T;T;T	0.16324	3.78;3.78;3.78;2.35	5.92	5.92	0.95590	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.362066	0.33005	N	0.005388	T	0.31104	0.0786	N	0.24115	0.695	0.48288	D	0.999628	D;D;D	0.71674	0.998;0.995;0.995	D;P;D	0.68483	0.958;0.876;0.913	T	0.02958	-1.1089	10	0.66056	D	0.02	-9.5915	20.3343	0.98733	0.0:1.0:0.0:0.0	.	198;476;476	Q6ZS95;B4DTU0;Q13740	.;.;CD166_HUMAN	F	476;476;425;198	ENSP00000305988:S476F;ENSP00000419236:S476F;ENSP00000418213:S425F;ENSP00000374577:S198F	ENSP00000305988:S476F	S	+	2	0	ALCAM	106751713	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.059000	0.64306	2.822000	0.97130	0.650000	0.86243	TCC		0.343	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353764.1	NM_001627	
PARP14	54625	broad.mit.edu	37	3	122433231	122433231	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr3:122433231delG	ENST00000474629.2	+	12	4221	c.3955delG	c.(3955-3957)gaafs	p.E1319fs		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1319	Macro 3. {ECO:0000255|PROSITE- ProRule:PRU00490}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		GCAGGAGTGTGAAAAAAAAAA	0.423																																						.											0													58.0	56.0	57.0					3																	122433231		1887	4111	5998	SO:0001589	frameshift_variant	54625			AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.3955delG	3.37:g.122433231delG	ENSP00000418194:p.Glu1319fs		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Frame_Shift_Del	DEL	ENST00000474629.2	37	CCDS46894.1																																																																																				0.423	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554	
MUC4	4585	broad.mit.edu	37	3	195507051	195507051	+	Silent	SNP	T	T	C			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr3:195507051T>C	ENST00000463781.3	-	2	11859	c.11400A>G	c.(11398-11400)tcA>tcG	p.S3800S	MUC4_ENST00000475231.1_Silent_p.S3800S|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.S3800S(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CTGTGGATGCTGAGGAAGTGT	0.597																																						.											1	Substitution - coding silent(1)	kidney(1)											8.0	6.0	7.0					3																	195507051		641	1506	2147	SO:0001819	synonymous_variant	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.11400A>G	3.37:g.195507051T>C			O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	CCDS54700.1																																																																																				0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
MUC4	4585	broad.mit.edu	37	3	195507059	195507059	+	Missense_Mutation	SNP	T	T	C	rs76367261		TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr3:195507059T>C	ENST00000463781.3	-	2	11851	c.11392A>G	c.(11392-11394)Act>Gct	p.T3798A	MUC4_ENST00000475231.1_Missense_Mutation_p.T3798A|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.T3798A(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GCTGAGGAAGTGTCGGTGACA	0.602																																						.											1	Substitution - Missense(1)	kidney(1)											8.0	7.0	7.0					3																	195507059		640	1492	2132	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.11392A>G	3.37:g.195507059T>C	ENSP00000417498:p.Thr3798Ala		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	N	5.737	0.320503	0.10845	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.36878	1.23;1.27	.	.	.	.	101.427000	0.03934	U	0.285798	T	0.15349	0.0370	N	0.08118	0	0.19575	N	0.999967	B	0.13594	0.008	B	0.08055	0.003	T	0.13980	-1.0489	8	.	.	.	.	4.6071	0.12383	0.0:0.6657:0.0:0.3343	.	3670	E7ESK3	.	A	3798	ENSP00000417498:T3798A;ENSP00000420243:T3798A	.	T	-	1	0	MUC4	196991838	0.003000	0.15002	0.034000	0.17996	0.034000	0.12701	0.899000	0.28417	-2.094000	0.00854	-2.075000	0.00382	ACT		0.602	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
CEP19	84984	broad.mit.edu;mdanderson.org;bcgsc.ca	37	3	196434505	196434505	+	Missense_Mutation	SNP	C	C	A			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr3:196434505C>A	ENST00000399942.4	-	2	598	c.304G>T	c.(304-306)Gtt>Ttt	p.V102F	CEP19_ENST00000409690.3_Missense_Mutation_p.V141F|RNU6-646P_ENST00000364571.1_RNA			Q96LK0	CEP19_HUMAN	centrosomal protein 19kDa	137						centriole (GO:0005814)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	10						ATGTCATAAACAAAATTTGGA	0.408																																						.											0													154.0	143.0	147.0					3																	196434505		1913	4132	6045	SO:0001583	missense	84984			BC007827	CCDS43193.2	3q29	2014-02-20	2011-05-06	2011-05-06	ENSG00000174007	ENSG00000174007			28209	protein-coding gene	gene with protein product		615586	"""chromosome 3 open reading frame 34"""	C3orf34		21399614	Standard	XM_005269370		Approved	MGC14126	uc011btw.2	Q96LK0	OTTHUMG00000153933	ENST00000399942.4:c.304G>T	3.37:g.196434505C>A	ENSP00000382823:p.Val102Phe		B2RA74|Q96I48	Missense_Mutation	SNP	ENST00000399942.4	37		.	.	.	.	.	.	.	.	.	.	C	20.1	3.932672	0.73442	.	.	ENSG00000174007	ENST00000409690;ENST00000399942	.	.	.	5.66	5.66	0.87406	.	0.112186	0.64402	D	0.000011	T	0.69753	0.3146	M	0.73962	2.25	0.48395	D	0.999649	D	0.56746	0.977	P	0.56648	0.803	T	0.70981	-0.4724	9	0.51188	T	0.08	-19.7616	12.9512	0.58401	0.0:0.8851:0.0:0.1149	.	137	Q96LK0	CEP19_HUMAN	F	141;102	.	ENSP00000382823:V102F	V	-	1	0	CEP19	197918902	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.777000	0.47717	2.832000	0.97577	0.655000	0.94253	GTT		0.408	CEP19-002	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000333081.1	NM_032898	
PRKAA1	5562	broad.mit.edu	37	5	40775606	40775606	+	Splice_Site	SNP	C	C	T			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr5:40775606C>T	ENST00000397128.2	-	3	278		c.e3-1		PRKAA1_ENST00000354209.3_Splice_Site|PRKAA1_ENST00000296800.4_Splice_Site	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit						activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to glucose starvation (GO:0042149)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|cold acclimation (GO:0009631)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|fatty acid oxidation (GO:0019395)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of glucosylceramide biosynthetic process (GO:0046318)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of gene expression (GO:0010628)|positive regulation of glycolytic process (GO:0045821)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of transcription, DNA-templated (GO:0006355)|regulation of vesicle-mediated transport (GO:0060627)|response to activity (GO:0014823)|response to caffeine (GO:0031000)|response to camptothecin (GO:1901563)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	AMP-activated protein kinase complex (GO:0031588)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|tau-protein kinase activity (GO:0050321)			breast(1)	1					Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	GACCTGGTACCTGGTGAGAGA	0.353																																						.											0													105.0	92.0	96.0					5																	40775606		1836	4079	5915	SO:0001630	splice_region_variant	5562				CCDS3932.2, CCDS3933.2	5p13.1	2012-10-03			ENSG00000132356	ENSG00000132356			9376	protein-coding gene	gene with protein product	"""AMPK, alpha, 1"""	602739				8557660	Standard	XM_006714481		Approved	AMPKa1	uc003jmb.3	Q13131	OTTHUMG00000162269	ENST00000397128.2:c.270-1G>A	5.37:g.40775606C>T			A8MTQ6|B2R7E1|O00286|Q5D0E1|Q86VS1|Q9UNQ4	Splice_Site	SNP	ENST00000397128.2	37	CCDS3932.2	.	.	.	.	.	.	.	.	.	.	C	24.0	4.477067	0.84640	.	.	ENSG00000132356	ENST00000397128;ENST00000354209;ENST00000296800	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2799	0.90096	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AC008810.1	40811363	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.461000	0.80834	2.391000	0.81399	0.585000	0.79938	.		0.353	PRKAA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253833.2	NM_006251	Intron
ZSWIM6	57688	broad.mit.edu	37	5	60822118	60822118	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr5:60822118T>C	ENST00000252744.5	+	7	1732	c.1732T>C	c.(1732-1734)Tct>Cct	p.S578P		NM_020928.1	NP_065979.1	Q9HCJ5	ZSWM6_HUMAN	zinc finger, SWIM-type containing 6	578					neuron projection morphogenesis (GO:0048812)|regulation of neuron migration (GO:2001222)		zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)	8						CGCATTACGTTCTCATGGGTA	0.418																																						.											0													126.0	105.0	111.0					5																	60822118		692	1591	2283	SO:0001583	missense	57688			BC039438	CCDS47215.1	5q12.1	2011-03-17			ENSG00000130449	ENSG00000130449		"""Zinc fingers, SWIM-type"""	29316	protein-coding gene	gene with protein product		615951				10997877, 16427614	Standard	NM_020928		Approved	KIAA1577	uc003jsr.3	Q9HCJ5	OTTHUMG00000162388	ENST00000252744.5:c.1732T>C	5.37:g.60822118T>C	ENSP00000252744:p.Ser578Pro			Missense_Mutation	SNP	ENST00000252744.5	37	CCDS47215.1	.	.	.	.	.	.	.	.	.	.	T	18.42	3.619792	0.66787	.	.	ENSG00000130449	ENST00000252744	T	0.57907	0.37	5.69	5.69	0.88448	.	0.114849	0.64402	D	0.000009	T	0.72732	0.3497	M	0.73962	2.25	0.58432	D	0.999996	D	0.76494	0.999	D	0.91635	0.999	T	0.75456	-0.3311	10	0.59425	D	0.04	-8.2418	15.9518	0.79846	0.0:0.0:0.0:1.0	.	578	Q9HCJ5	ZSWM6_HUMAN	P	578	ENSP00000252744:S578P	ENSP00000252744:S578P	S	+	1	0	ZSWIM6	60857875	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.673000	0.83973	2.180000	0.69256	0.533000	0.62120	TCT		0.418	ZSWIM6-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368710.1	NM_020928	
AGGF1	55109	broad.mit.edu	37	5	76358967	76358967	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr5:76358967delA	ENST00000312916.7	+	14	2417	c.2035delA	c.(2035-2037)aaafs	p.K680fs		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	680					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|RNA processing (GO:0006396)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	nucleic acid binding (GO:0003676)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		AAACAAGAACAAAAAAAACTG	0.468																																						.											0													149.0	161.0	157.0					5																	76358967		2203	4300	6503	SO:0001589	frameshift_variant	55109			AK001145	CCDS4035.1	5q13.3	2013-10-11			ENSG00000164252	ENSG00000164252		"""G patch domain containing"""	24684	protein-coding gene	gene with protein product		608464				18564129, 17103452	Standard	NM_018046		Approved	VG5Q, HSU84971, FLJ10283, GPATC7, GPATCH7	uc003ket.3	Q8N302	OTTHUMG00000102132	ENST00000312916.7:c.2035delA	5.37:g.76358967delA	ENSP00000316109:p.Lys680fs		O00581|Q53YS3|Q9BU84|Q9NW66	Frame_Shift_Del	DEL	ENST00000312916.7	37	CCDS4035.1																																																																																				0.468	AGGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219971.2	NM_018046	
DHFR	1719	broad.mit.edu;mdanderson.org	37	5	79945302	79945302	+	Silent	SNP	G	G	A			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr5:79945302G>A	ENST00000439211.2	-	3	641	c.148C>T	c.(148-150)Ctg>Ttg	p.L50L	DHFR_ENST00000505337.1_Silent_p.L50L|DHFR_ENST00000513048.1_5'UTR|DHFR_ENST00000504396.1_5'UTR|DHFR_ENST00000511032.1_Silent_p.L50L	NM_000791.3	NP_000782.1	P00374	DYR_HUMAN	dihydrofolate reductase	50	DHFR. {ECO:0000255|PROSITE- ProRule:PRU00660}.				folic acid metabolic process (GO:0046655)|G1/S transition of mitotic cell cycle (GO:0000082)|glycine biosynthetic process (GO:0006545)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|nucleotide biosynthetic process (GO:0009165)|one-carbon metabolic process (GO:0006730)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|response to methotrexate (GO:0031427)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)|tetrahydrofolate metabolic process (GO:0046653)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	dihydrofolate reductase activity (GO:0004146)|drug binding (GO:0008144)|mRNA binding (GO:0003729)|NADP binding (GO:0050661)			kidney(1)|large_intestine(1)	2		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Pralatrexate(DB06813)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)	ATAATCACCAGATTCTGTTTA	0.323																																						.											0													74.0	71.0	72.0					5																	79945302		2010	4199	6209	SO:0001819	synonymous_variant	1719				CCDS47240.1	5q11.2-q13.2	2012-10-02			ENSG00000228716	ENSG00000228716	1.5.1.3		2861	protein-coding gene	gene with protein product		126060					Standard	XM_005248455		Approved		uc003kgy.1	P00374	OTTHUMG00000162529	ENST00000439211.2:c.148C>T	5.37:g.79945302G>A			B4DDD2|Q14130|Q6IRW8	Silent	SNP	ENST00000439211.2	37	CCDS47240.1																																																																																				0.323	DHFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369450.1	NM_000791	
ATXN1	6310	broad.mit.edu	37	6	16326646	16326646	+	Silent	SNP	G	G	A			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr6:16326646G>A	ENST00000244769.4	-	8	2832	c.1896C>T	c.(1894-1896)gcC>gcT	p.A632A	ATXN1_ENST00000436367.1_Silent_p.A632A	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	632	AXH. {ECO:0000255|PROSITE- ProRule:PRU00496}.|Interaction with USP7.|RNA-binding.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GCTCCCCGACGGCGAACTGTA	0.577																																						.											0													64.0	67.0	66.0					6																	16326646		2203	4300	6503	SO:0001819	synonymous_variant	6310			X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.1896C>T	6.37:g.16326646G>A			Q17S02|Q9UJG2|Q9Y4J1	Silent	SNP	ENST00000244769.4	37	CCDS34342.1																																																																																				0.577	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332	
FAM86B2	653333	broad.mit.edu;mdanderson.org;bcgsc.ca	37	8	12287958	12287958	+	Missense_Mutation	SNP	G	G	T	rs567088130	byFrequency	TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr8:12287958G>T	ENST00000262365.4	-	4	242	c.243C>A	c.(241-243)caC>caA	p.H81Q	FAM86B2_ENST00000393715.3_Intron|FAM86B2_ENST00000309608.5_Intron|FAM86B2_ENST00000351291.4_Intron	NM_001137610.1	NP_001131082.1	P0C5J1	F86B2_HUMAN	family with sequence similarity 86, member B2	81										endometrium(1)|kidney(2)	3						GGACAGCCTCGTGCTGGGGGC	0.537																																						.											0													8.0	13.0	11.0					8																	12287958		680	1574	2254	SO:0001583	missense	653333				CCDS59092.1	8p23.1	2011-07-01			ENSG00000145002	ENSG00000145002			32222	protein-coding gene	gene with protein product							Standard	NM_001137610		Approved		uc003wvt.4	P0C5J1	OTTHUMG00000165462	ENST00000262365.4:c.243C>A	8.37:g.12287958G>T	ENSP00000262365:p.His81Gln			Missense_Mutation	SNP	ENST00000262365.4	37	CCDS59092.1	.	.	.	.	.	.	.	.	.	.	-	4.395	0.072989	0.08485	.	.	ENSG00000145002	ENST00000262365	T	0.24538	1.85	1.16	0.223	0.15292	.	.	.	.	.	T	0.20495	0.0493	L	0.56769	1.78	0.80722	D	1	B	0.17852	0.024	B	0.14578	0.011	T	0.08166	-1.0735	9	0.51188	T	0.08	.	3.3083	0.07007	0.2978:0.0:0.7022:0.0	.	81	P0C5J1	F86B2_HUMAN	Q	81	ENSP00000262365:H81Q	ENSP00000262365:H81Q	H	-	3	2	FAM86B2	12332329	0.305000	0.24481	0.987000	0.45799	0.116000	0.19942	-0.569000	0.05902	0.061000	0.16311	0.162000	0.16502	CAC		0.537	FAM86B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_928336	
NOTCH1	4851	broad.mit.edu;mdanderson.org;bcgsc.ca	37	9	139395222	139395222	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr9:139395222C>T	ENST00000277541.6	-	31	5791	c.5716G>A	c.(5716-5718)Gcg>Acg	p.A1906T		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1906					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ACGGCCGGCGCGTCCTCCTCT	0.682			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												.		Dom	yes		9	9q34.3	4851	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""		L	0													37.0	46.0	43.0					9																	139395222		2113	4229	6342	SO:0001583	missense	4851			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.5716G>A	9.37:g.139395222C>T	ENSP00000277541:p.Ala1906Thr		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.261608	0.59431	.	.	ENSG00000148400	ENST00000277541	D	0.82255	-1.59	4.6	3.7	0.42460	Ankyrin repeat-containing domain (3);	0.168956	0.51477	D	0.000085	T	0.78761	0.4334	L	0.27053	0.805	0.58432	D	0.999992	P	0.40332	0.713	P	0.48840	0.592	T	0.74420	-0.3671	10	0.27082	T	0.32	.	11.9893	0.53166	0.0:0.9143:0.0:0.0857	.	1906	P46531	NOTC1_HUMAN	T	1906	ENSP00000277541:A1906T	ENSP00000277541:A1906T	A	-	1	0	NOTCH1	138515043	1.000000	0.71417	0.828000	0.32881	0.220000	0.24768	3.737000	0.55060	1.084000	0.41184	0.536000	0.68110	GCG		0.682	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617	
HEXA	3073	broad.mit.edu	37	15	72640036	72640037	+	Frame_Shift_Ins	INS	-	-	T			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr15:72640036_72640037insT	ENST00000268097.5	-	10	1639_1640	c.1136_1137insA	c.(1135-1137)aatfs	p.N379fs	HEXA_ENST00000567159.1_Frame_Shift_Ins_p.N379fs|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000566304.1_Frame_Shift_Ins_p.N390fs|HEXA_ENST00000429918.2_Frame_Shift_Ins_p.N206fs|HEXA_ENST00000457859.2_Intron|RP11-106M3.3_ENST00000570175.1_RNA	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	379					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						CCTTTACTTTATTATCAAACAC	0.545																																						.											0																																										SO:0001589	frameshift_variant	3073			M13520	CCDS10243.1	15q24.1	2012-10-02			ENSG00000213614	ENSG00000213614	3.2.1.52		4878	protein-coding gene	gene with protein product	"""Tay Sachs disease"", ""GM2 gangliosidosis"""	606869				2952641, 3013851	Standard	NM_000520		Approved		uc002aun.4	P06865	OTTHUMG00000133445	ENST00000268097.5:c.1137dupA	15.37:g.72640038_72640038dupT	ENSP00000268097:p.Asn379fs		B4DKE7|E7ENH7|Q53HS8|Q6AI32	Frame_Shift_Ins	INS	ENST00000268097.5	37	CCDS10243.1																																																																																				0.545	HEXA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257317.2	NM_000520	
SRRM3	222183	broad.mit.edu	37	7	75914932	75914933	+	Splice_Site	INS	-	-	C			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr7:75914932_75914933insC	ENST00000326382.8	+	15	1940_1941		c.e15-1		SRRM3_ENST00000388802.4_Splice_Site	NM_001110199.1	NP_001103669.1	A6NNA2	SRRM3_HUMAN	serine/arginine repetitive matrix 3											NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)	8						CTTCCCGGCAGCGCCGCAAGCG	0.658																																						.											0																																										SO:0001630	splice_region_variant	222183			AK092590		7q11.23	2014-02-12			ENSG00000177679	ENSG00000177679			26729	protein-coding gene	gene with protein product							Standard	NM_001291831		Approved	FLJ37078	uc010ldi.2	A6NNA2	OTTHUMG00000130489	ENST00000326382.8:c.1734-1->C	7.37:g.75914933_75914933dupC			A6ND75	Splice_Site	INS	ENST00000326382.8	37																																																																																					0.658	SRRM3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000252889.2	NM_001110199	Intron
ESPN	83715	ucsc.edu;bcgsc.ca	37	1	6512010	6512010	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr1:6512010A>G	ENST00000377828.1	+	10	2347	c.2179A>G	c.(2179-2181)Act>Gct	p.T727A	ESPN_ENST00000461727.1_Missense_Mutation_p.T161A|ESPN_ENST00000416731.1_Missense_Mutation_p.T161A|ESPN_ENST00000475228.1_3'UTR	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	727	Pro-rich.				locomotory behavior (GO:0007626)|negative regulation of cytoskeleton organization (GO:0051494)|parallel actin filament bundle assembly (GO:0030046)|positive regulation of filopodium assembly (GO:0051491)|sensory perception of sound (GO:0007605)	brush border (GO:0005903)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|microvillus (GO:0005902)|stereocilium bundle tip (GO:0032426)	actin filament binding (GO:0051015)|SH3 domain binding (GO:0017124)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		GCCGCCCACTACTCCTGCGCC	0.667																																						.											0													22.0	24.0	23.0					1																	6512010		2200	4298	6498	SO:0001583	missense	83715			AF134401	CCDS70.1	1p36.31	2013-01-10			ENSG00000187017	ENSG00000187017		"""Ankyrin repeat domain containing"""	13281	protein-coding gene	gene with protein product		606351	"""deafness, autosomal recessive 36"""	DFNB36		10975527, 15286153	Standard	NM_031475		Approved		uc001amy.3	B1AK53	OTTHUMG00000000753	ENST00000377828.1:c.2179A>G	1.37:g.6512010A>G	ENSP00000367059:p.Thr727Ala		Q6XYB2|Q9H0A2|Q9Y329	Missense_Mutation	SNP	ENST00000377828.1	37	CCDS70.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	4.577|4.577	0.107208|0.107208	0.08780|0.08780	.|.	.|.	ENSG00000187017|ENSG00000187017	ENST00000377828;ENST00000416731|ENST00000434576	T;D|.	0.82803|.	-0.1;-1.65|.	4.61|4.61	4.61|4.61	0.57282|0.57282	.|.	0.745694|.	0.13365|.	N|.	0.393397|.	T|T	0.38746|0.38746	0.1052|0.1052	L|L	0.31294|0.31294	0.92|0.92	0.31964|0.31964	N|N	0.608001|0.608001	P;B|.	0.44241|.	0.829;0.004|.	B;B|.	0.40864|.	0.342;0.006|.	T|T	0.45891|0.45891	-0.9230|-0.9230	10|5	0.13108|.	T|.	0.6|.	-25.3007|-25.3007	7.7898|7.7898	0.29114|0.29114	0.9056:0.0:0.0944:0.0|0.9056:0.0:0.0944:0.0	.|.	161;727|.	B1AK53-2;B1AK53|.	.;ESPN_HUMAN|.	A|C	727;161|70	ENSP00000367059:T727A;ENSP00000399239:T161A|.	ENSP00000367059:T727A|.	T|Y	+|+	1|2	0|0	ESPN|ESPN	6434597|6434597	0.938000|0.938000	0.31826|0.31826	1.000000|1.000000	0.80357|0.80357	0.183000|0.183000	0.23260|0.23260	3.684000|3.684000	0.54671|0.54671	1.943000|1.943000	0.56356|0.56356	0.402000|0.402000	0.26972|0.26972	ACT|TAC		0.667	ESPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001887.3	NM_031475	
CLCA4	22802	ucsc.edu	37	1	87045902	87045902	+	Silent	SNP	A	A	T	rs1932809|rs4001061|rs77067122|rs56040873|rs574759485|rs368263974	byFrequency	TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr1:87045902A>T	ENST00000370563.3	+	14	2676	c.2634A>T	c.(2632-2634)acA>acT	p.T878T	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	878			Missing. {ECO:0000269|PubMed:10437792, ECO:0000269|PubMed:15489334}.		chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		TTGAtcctacacctactccta	0.348														35	0.00698882	0.0234	0.0014	5008	,	,		16699	0.002		0.001	False		,,,				2504	0.0					.											0								A		815,2361		278,259,1051	73.0	63.0	66.0		2634	-1.3	0.0	1	dbSNP_92	66	2425,4057		1007,411,1823	no	coding-synonymous	CLCA4	NM_012128.3		1285,670,2874	TT,TA,AA		37.4113,25.6612,33.5473		878/920	87045902	3240,6418	1588	3241	4829	SO:0001819	synonymous_variant	22802			AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"""chloride channel, calcium activated, family member 4"", ""chloride channel regulator 4"""			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.2634A>T	1.37:g.87045902A>T			A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Silent	SNP	ENST00000370563.3	37	CCDS41355.1																																																																																				0.348	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1	NM_012128	
GRB7	2886	ucsc.edu	37	17	37901742	37901742	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr17:37901742A>G	ENST00000309156.4	+	11	1417	c.1160A>G	c.(1159-1161)aAc>aGc	p.N387S	GRB7_ENST00000445327.2_Missense_Mutation_p.N410S|GRB7_ENST00000309185.3_Missense_Mutation_p.N387S|GRB7_ENST00000394204.1_Missense_Mutation_p.N387S|GRB7_ENST00000394211.3_Missense_Mutation_p.N387S|GRB7_ENST00000394209.2_Missense_Mutation_p.N387S	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	387					blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|leukocyte migration (GO:0050900)|negative regulation of translation (GO:0017148)|positive regulation of cell migration (GO:0030335)|positive regulation of signal transduction (GO:0009967)|stress granule assembly (GO:0034063)	cell projection (GO:0042995)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GTCATTGAGAACCCCCGGGAG	0.607																																						.											0													63.0	67.0	66.0					17																	37901742		2203	4300	6503	SO:0001583	missense	2886			D43772	CCDS11345.1, CCDS56028.1	17q12	2013-02-14			ENSG00000141738	ENSG00000141738		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4567	protein-coding gene	gene with protein product		601522					Standard	NM_005310		Approved		uc021twu.1	Q14451	OTTHUMG00000133253	ENST00000309156.4:c.1160A>G	17.37:g.37901742A>G	ENSP00000310771:p.Asn387Ser		B2RAV1|B3KNL0|B3KWP9|B7WP75|J3KQM4|Q53YD3|Q92568|Q96DF9|Q9Y220	Missense_Mutation	SNP	ENST00000309156.4	37	CCDS11345.1	.	.	.	.	.	.	.	.	.	.	A	17.46	3.394536	0.62066	.	.	ENSG00000141738	ENST00000309185;ENST00000309156;ENST00000394211;ENST00000394209;ENST00000445327;ENST00000394204	T;T;T;T;T;T	0.63255	-0.03;1.29;1.29;1.29;1.26;-0.03	5.97	5.97	0.96955	BPS (Between PH and SH2) domain (1);	0.000000	0.85682	D	0.000000	T	0.79429	0.4444	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.80764	0.994;0.991	T	0.81111	-0.1081	10	0.56958	D	0.05	-35.7628	15.433	0.75116	1.0:0.0:0.0:0.0	.	387;387	Q14451-2;Q14451	.;GRB7_HUMAN	S	387;387;387;387;410;387	ENSP00000311752:N387S;ENSP00000310771:N387S;ENSP00000377761:N387S;ENSP00000377759:N387S;ENSP00000403459:N410S;ENSP00000377754:N387S	ENSP00000310771:N387S	N	+	2	0	GRB7	35155268	1.000000	0.71417	1.000000	0.80357	0.011000	0.07611	7.419000	0.80179	2.288000	0.76882	0.533000	0.62120	AAC		0.607	GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257024.2	NM_005310	
MCMBP	79892	ucsc.edu	37	10	121587065	121587065	+	IGR	SNP	T	T	C	rs201053908|rs148162878	byFrequency	TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr10:121587065T>C	ENST00000360003.3	-	0	4113				INPP5F_ENST00000369080.3_Missense_Mutation_p.S448P|INPP5F_ENST00000361976.2_Missense_Mutation_p.S1058P	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein						DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						TGTAACTCCTTCTCCTTCAGA	0.493																																						.											0								T	PRO/SER	1,4405	2.1+/-5.4	0,1,2202	106.0	104.0	105.0		3172	4.5	1.0	10	dbSNP_134	105	0,8600		0,0,4300	yes	missense	INPP5F	NM_014937.3	74	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	probably-damaging	1058/1133	121587065	1,13005	2203	4300	6503	SO:0001628	intergenic_variant	22876			BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"""chromosome 10 open reading frame 119"""	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159		10.37:g.121587065T>C			B3KSP7|Q6IA56|Q9BVT9|Q9H916	Missense_Mutation	SNP	ENST00000360003.3	37	CCDS7617.1	.	.	.	.	.	.	.	.	.	.	T	19.08	3.757919	0.69648	2.27E-4	0.0	ENSG00000198825	ENST00000361976;ENST00000369080	T;T	0.59906	0.65;0.23	5.63	4.5	0.54988	.	0.296722	0.37483	N	0.002064	T	0.70718	0.3256	L	0.58101	1.795	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.994	T	0.72337	-0.4324	10	0.87932	D	0	-18.4272	11.441	0.50096	0.0:0.0707:0.0:0.9293	.	448;1058	Q5W135;Q9Y2H2	.;SAC2_HUMAN	P	1058;448	ENSP00000354519:S1058P;ENSP00000358076:S448P	ENSP00000354519:S1058P	S	+	1	0	INPP5F	121577055	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.090000	0.71397	0.983000	0.38602	0.358000	0.22013	TCT		0.493	MCMBP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050684.1	NM_024834	
PARS2	25973	ucsc.edu	37	1	55224826	55224826	+	Silent	SNP	C	C	T			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr1:55224826C>T	ENST00000371279.3	-	2	91	c.9G>A	c.(7-9)ggG>ggA	p.G3G		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	3					gene expression (GO:0010467)|prolyl-tRNA aminoacylation (GO:0006433)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|proline-tRNA ligase activity (GO:0004827)			breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	TTGTCAGCAGCCCTTCCATGA	0.572																																						.											0													18.0	17.0	17.0					1																	55224826		2201	4299	6500	SO:0001819	synonymous_variant	25973			AK025585	CCDS597.1	1p32.2	2011-07-01	2007-02-23		ENSG00000162396	ENSG00000162396	6.1.1.15	"""Aminoacyl tRNA synthetases / Class II"""	30563	protein-coding gene	gene with protein product	"""proline tRNA ligase 2, mitochondrial (putative)"""	612036				15779907	Standard	NM_152268		Approved	DKFZp727A071	uc001cxy.3	Q7L3T8	OTTHUMG00000009915	ENST00000371279.3:c.9G>A	1.37:g.55224826C>T			A8K0W4|Q9H6S5|Q9UFT1	Silent	SNP	ENST00000371279.3	37	CCDS597.1																																																																																				0.572	PARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027436.1	NM_152268	
SCN3A	6328	ucsc.edu	37	2	166032778	166032778	+	Missense_Mutation	SNP	T	T	C	rs34236036|rs72471101	byFrequency	TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr2:166032778T>C	ENST00000360093.3	-	3	618	c.127A>G	c.(127-129)Aat>Gat	p.N43D	SCN3A_ENST00000409101.3_Missense_Mutation_p.N43D|SCN3A_ENST00000283254.7_Missense_Mutation_p.N43D	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	43			Missing. {ECO:0000269|PubMed:12610651}.		membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCATCATCATTATCTTGTTCC	0.428																																						.											0													217.0	198.0	204.0					2																	166032778		2201	4280	6481	SO:0001583	missense	6328			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.127A>G	2.37:g.166032778T>C	ENSP00000353206:p.Asn43Asp		Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37		.	.	.	.	.	.	.	.	.	.	T	2.695	-0.272189	0.05716	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431;ENST00000453007	D;D;D;D;T	0.95656	-3.77;-3.77;-3.72;-3.6;8.06	4.68	3.34	0.38264	.	0.615244	0.15295	N	0.269958	T	0.73345	0.3575	N	0.00122	-2.065	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.0;0.003;0.0	T	0.73770	-0.3878	10	0.06236	T	0.91	.	3.2823	0.06920	0.0:0.3988:0.0:0.6012	.	43;43;43	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	D	43	ENSP00000353206:N43D;ENSP00000283254:N43D;ENSP00000386726:N43D;ENSP00000403348:N43D;ENSP00000391569:N43D	ENSP00000283254:N43D	N	-	1	0	SCN3A	165741024	0.797000	0.28877	0.992000	0.48379	0.893000	0.52053	1.361000	0.34136	1.873000	0.54277	0.260000	0.18958	AAT		0.428	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922	
VWF	7450	ucsc.edu	37	12	6181608	6181608	+	Splice_Site	SNP	T	T	C			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr12:6181608T>C	ENST00000261405.5	-	9	1252	c.998A>G	c.(997-999)gAg>gGg	p.E333G		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	333	TIL 1.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GAGCTGTCCCTCTGGGGTCAA	0.572																																						.											0													74.0	58.0	63.0					12																	6181608		2203	4300	6503	SO:0001630	splice_region_variant	7450				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.998-1A>G	12.37:g.6181608T>C			Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	T	19.66	3.868610	0.72065	.	.	ENSG00000110799	ENST00000261405	D	0.91577	-2.87	5.55	5.55	0.83447	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	0.000000	0.43919	D	0.000511	D	0.95847	0.8648	M	0.88450	2.955	0.80722	D	1	P;D	0.71674	0.775;0.998	B;D	0.83275	0.438;0.996	D	0.96404	0.9299	10	0.66056	D	0.02	.	14.5333	0.67942	0.0:0.0:0.0:1.0	.	333;333	B4DNX0;P04275	.;VWF_HUMAN	G	333	ENSP00000261405:E333G	ENSP00000261405:E333G	E	-	2	0	VWF	6051869	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	1.258000	0.32944	2.112000	0.64535	0.459000	0.35465	GAG		0.572	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552	Missense_Mutation
ANKRD20A5P	440482	mdanderson.org	37	18	14183978	14183978	+	RNA	SNP	T	T	C	rs77403707	byFrequency	TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr18:14183978T>C	ENST00000581935.1	+	0	667							A0PJZ0	A20A5_HUMAN	ankyrin repeat domain 20 family, member A5, pseudogene											lung(3)	3						TGGAACATGGTGCCAATCCAA	0.448																																						.											0													93.0	93.0	93.0					18																	14183978		2201	4296	6497			440482			BC022023		18p11.21	2011-06-01	2011-06-01	2011-06-01	ENSG00000186481	ENSG00000186481			33833	pseudogene	pseudogene			"""ankyrin repeat domain 20 family, member A5"""	ANKRD20A5			Standard	NR_040113		Approved	MGC26718	uc010xag.2	A0PJZ0	OTTHUMG00000157172		18.37:g.14183978T>C			Q4G1B6	RNA	SNP	ENST00000581935.1	37																																																																																					0.448	ANKRD20A5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000442833.1		
BDNF	627	mdanderson.org;bcgsc.ca	37	11	27679447	27679447	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr11:27679447C>T	ENST00000525528.1	-	1	1758	c.665G>A	c.(664-666)aGc>aAc	p.S222N	BDNF_ENST00000533246.1_Missense_Mutation_p.S222N|BDNF_ENST00000584049.1_5'UTR|BDNF_ENST00000395978.3_Missense_Mutation_p.S222N|BDNF_ENST00000395983.3_Missense_Mutation_p.S222N|BDNF_ENST00000395980.2_Missense_Mutation_p.S222N|BDNF_ENST00000525950.1_Missense_Mutation_p.S222N|BDNF_ENST00000420794.1_Missense_Mutation_p.S222N|BDNF_ENST00000395981.3_Missense_Mutation_p.S222N|BDNF-AS_ENST00000530686.1_RNA|BDNF_ENST00000530861.1_Missense_Mutation_p.S222N|BDNF_ENST00000533131.1_Missense_Mutation_p.S222N|BDNF-AS_ENST00000530313.1_RNA|BDNF-AS_ENST00000499008.3_RNA|BDNF_ENST00000439476.2_Missense_Mutation_p.S222N|BDNF_ENST00000532997.1_Missense_Mutation_p.S222N|BDNF_ENST00000418212.1_Missense_Mutation_p.S222N|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000314915.6_Missense_Mutation_p.S230N|BDNF_ENST00000356660.4_Missense_Mutation_p.S222N|BDNF-AS_ENST00000532965.1_RNA|BDNF_ENST00000395986.2_Missense_Mutation_p.S237N|BDNF-AS_ENST00000499568.2_RNA|BDNF-AS_ENST00000502161.2_RNA|BDNF-AS_ENST00000500662.2_RNA|BDNF_ENST00000438929.1_Missense_Mutation_p.S304N	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor	222					axon extension (GO:0048675)|axon guidance (GO:0007411)|axon target recognition (GO:0007412)|behavioral fear response (GO:0001662)|chronic inflammatory response (GO:0002544)|circadian rhythm (GO:0007623)|dendrite development (GO:0016358)|dendrite extension (GO:0097484)|feeding behavior (GO:0007631)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glutamate secretion (GO:0014047)|inner ear development (GO:0048839)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuron recognition (GO:0008038)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of synapse assembly (GO:0051965)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of retinal cell programmed cell death (GO:0046668)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|response to anesthetic (GO:0072347)|response to fluoxetine (GO:0014076)|response to hormone (GO:0009725)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to vitamin A (GO:0033189)|taste bud development (GO:0061193)|ureteric bud development (GO:0001657)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	growth factor activity (GO:0008083)			breast(1)|large_intestine(3)|lung(2)	6						TCTCTTTTTGCTATCCATGGT	0.443																																						.											0													113.0	116.0	115.0					11																	27679447		2202	4299	6501	SO:0001583	missense	627			AB038670	CCDS7865.1, CCDS7866.1, CCDS44558.1, CCDS41628.1	11p14.1	2014-01-30			ENSG00000176697	ENSG00000176697		"""Endogenous ligands"""	1033	protein-coding gene	gene with protein product	"""neurotrophin"""	113505				2236018, 1889806, 17942328, 17493809	Standard	NM_170731		Approved		uc009yje.3	P23560	OTTHUMG00000178797	ENST00000525528.1:c.665G>A	11.37:g.27679447C>T	ENSP00000437138:p.Ser222Asn		A7LA85|A7LA92|D3DQZ2|Q598Q1|Q6DN19|Q6YNR2|Q6YNR3|Q9BYY7|Q9UC24	Missense_Mutation	SNP	ENST00000525528.1	37	CCDS7866.1	.	.	.	.	.	.	.	.	.	.	C	9.994	1.231555	0.22626	.	.	ENSG00000176697	ENST00000439476;ENST00000525528;ENST00000395986;ENST00000533131;ENST00000356660;ENST00000418212;ENST00000533246;ENST00000530861;ENST00000395983;ENST00000438929;ENST00000395980;ENST00000532997;ENST00000395981;ENST00000395978;ENST00000525950;ENST00000314915;ENST00000420794;ENST00000528035	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36	6.08	4.01	0.46588	Nerve growth factor-related (4);	0.121472	0.85682	N	0.000000	T	0.43986	0.1272	N	0.10972	0.075	0.50467	D	0.999871	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.001;0.0;0.0;0.0	T	0.42241	-0.9463	10	0.87932	D	0	-9.2797	6.7291	0.23373	0.0:0.699:0.0:0.301	.	251;304;230;222;237	P23560-5;P23560-4;P23560-2;P23560;P23560-3	.;.;.;BDNF_HUMAN;.	N	222;222;237;222;222;222;222;222;222;304;222;222;222;222;222;230;222;174	ENSP00000389345:S222N;ENSP00000437138:S222N;ENSP00000379309:S237N;ENSP00000432727:S222N;ENSP00000349084:S222N;ENSP00000400502:S222N;ENSP00000432376:S222N;ENSP00000435564:S222N;ENSP00000379307:S222N;ENSP00000414303:S304N;ENSP00000379304:S222N;ENSP00000435805:S222N;ENSP00000379305:S222N;ENSP00000379302:S222N;ENSP00000432035:S222N;ENSP00000320002:S230N;ENSP00000389564:S222N	ENSP00000320002:S230N	S	-	2	0	BDNF	27636023	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.053000	0.49901	1.575000	0.49775	0.591000	0.81541	AGC		0.443	BDNF-016	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388135.1	NM_170735	
EIF5AL1	143244	mdanderson.org	37	10	81272627	81272627	+	Silent	SNP	G	G	A	rs200689309		TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr10:81272627G>A	ENST00000520547.2	+	1	271	c.222G>A	c.(220-222)ccG>ccA	p.P74P	AL133481.1_ENST00000538322.1_5'Flank	NM_001099692.1	NP_001093162.1	Q6IS14	IF5AL_HUMAN	eukaryotic translation initiation factor 5A-like 1	74					mRNA transport (GO:0051028)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|positive regulation of translational elongation (GO:0045901)|positive regulation of translational termination (GO:0045905)|protein transport (GO:0015031)|translational frameshifting (GO:0006452)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)	ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)			endometrium(1)	1	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			ATATCTGCCCGTCAACTCATA	0.498																																						.											0													30.0	32.0	32.0					10																	81272627		2202	4289	6491	SO:0001819	synonymous_variant	143244				CCDS53546.1	10q22.3	2012-04-19			ENSG00000253626	ENSG00000253626			17419	protein-coding gene	gene with protein product			"""eukaryotic translation initiation factor 5A pseudogene 1"""	EIF5AP1			Standard	NM_001099692		Approved	bA342M3.3	uc009xrx.3	Q6IS14	OTTHUMG00000018563	ENST00000520547.2:c.222G>A	10.37:g.81272627G>A				Silent	SNP	ENST00000520547.2	37	CCDS53546.1																																																																																				0.498	EIF5AL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048954.4	NM_001099692	
FAM86B1	85002	mdanderson.org	37	8	12042969	12042969	+	Missense_Mutation	SNP	G	G	A	rs201172089	byFrequency	TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr8:12042969G>A	ENST00000448228.2	-	6	755	c.706C>T	c.(706-708)Cgg>Tgg	p.R236W	FAM86B1_ENST00000321602.8_Missense_Mutation_p.R42W|FAM86B1_ENST00000533852.2_Missense_Mutation_p.R270W|FAM86B1_ENST00000534520.1_Missense_Mutation_p.P147L	NM_001083537.1	NP_001077006.1	Q8N7N1	F86B1_HUMAN	family with sequence similarity 86, member B1	236										kidney(1)|prostate(1)|stomach(1)	3			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.0965)		TTGTGCTCCCGGCAGGCAGCC	0.612																																						.											0													7.0	9.0	8.0					8																	12042969		1359	2492	3851	SO:0001583	missense	85002			BC007983	CCDS59512.1	8p23.1	2014-02-12	2005-08-19		ENSG00000186523	ENSG00000186523			28268	protein-coding gene	gene with protein product						12477932	Standard	NM_001083537		Approved	MGC16279	uc010lse.3	Q8N7N1	OTTHUMG00000165298	ENST00000448228.2:c.706C>T	8.37:g.12042969G>A	ENSP00000407067:p.Arg236Trp			Missense_Mutation	SNP	ENST00000448228.2	37	CCDS59512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	7.982|7.982	0.751471|0.751471	0.15778|0.15778	.|.	.|.	ENSG00000186523|ENSG00000186523	ENST00000340537;ENST00000534520|ENST00000431227;ENST00000448228;ENST00000321602;ENST00000526708	T;T|T;T	0.19806|0.26810	2.12;2.12|3.26;1.71	1.17|1.17	1.17|1.17	0.20885|0.20885	.|.	35.965900|.	0.00520|.	U|.	0.000195|.	T|T	0.20536|0.20536	0.0494|0.0494	M|M	0.66378|0.66378	2.025|2.025	0.09310|0.09310	N|N	1|1	.|B;B;P;B	.|0.35481	.|0.001;0.013;0.504;0.127	.|B;B;B;B	.|0.20955	.|0.01;0.016;0.032;0.009	T|T	0.18903|0.18903	-1.0322|-1.0322	8|9	0.87932|0.56958	D|D	0|0.05	.|.	5.7595|5.7595	0.18192|0.18192	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|236;270;42;79	.|Q8N7N1;E9PN63;F6QN85;Q4KMP3	.|F86B1_HUMAN;.;.;.	L|W	147|270;236;42;270	ENSP00000342610:P147L;ENSP00000431362:P147L|ENSP00000407067:R236W;ENSP00000439686:R42W	ENSP00000342610:P147L|ENSP00000439686:R42W	P|R	-|-	2|1	0|2	FAM86B1|FAM86B1	12080378|12080378	0.886000|0.886000	0.30341|0.30341	0.007000|0.007000	0.13788|0.13788	0.004000|0.004000	0.04260|0.04260	0.669000|0.669000	0.25142|0.25142	0.950000|0.950000	0.37743|0.37743	0.173000|0.173000	0.16961|0.16961	CCG|CGG		0.612	FAM86B1-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000383317.1	NM_032916	
FANCD2	2177	mdanderson.org	37	3	10114944	10114944	+	Missense_Mutation	SNP	A	A	C	rs56041034		TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr3:10114944A>C	ENST00000419585.1	+	28	2774	c.2613A>C	c.(2611-2613)aaA>aaC	p.K871N	FANCD2_ENST00000383806.1_Missense_Mutation_p.K871N|FANCD2_ENST00000383807.1_Missense_Mutation_p.K871N|FANCD2_ENST00000287647.3_Missense_Mutation_p.K871N			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	871					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		AAGAAAGGAAACAAAAAACAG	0.373			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													.	yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""Fanconi anemia, complementation group D2"""		L	0													55.0	59.0	58.0					3																	10114944		2203	4300	6503	SO:0001583	missense	2177	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.2613A>C	3.37:g.10114944A>C	ENSP00000398754:p.Lys871Asn		Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	A	5.929	0.355390	0.11239	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.59638	0.25;0.25;0.25;0.25	5.83	-2.35	0.06684	.	0.136622	0.64402	N	0.000003	T	0.52175	0.1718	M	0.79805	2.47	0.38547	D	0.949353	B;B	0.26318	0.146;0.146	B;B	0.31337	0.082;0.128	T	0.37911	-0.9685	10	0.41790	T	0.15	.	5.4019	0.16301	0.4703:0.0:0.3923:0.1374	rs56041034	871;871	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	N	871	ENSP00000287647:K871N;ENSP00000373318:K871N;ENSP00000373317:K871N;ENSP00000398754:K871N	ENSP00000287647:K871N	K	+	3	2	FANCD2	10089944	0.777000	0.28628	0.586000	0.28679	0.012000	0.07955	-0.040000	0.12104	-0.379000	0.07906	-0.417000	0.06048	AAA		0.373	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1		
FOXD4L1	200350	mdanderson.org	37	2	114257162	114257162	+	Missense_Mutation	SNP	A	A	C	rs201655302		TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr2:114257162A>C	ENST00000306507.5	+	1	502	c.329A>C	c.(328-330)tAc>tCc	p.Y110S		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	110					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						AAGCCCCCCTACTCGTACATC	0.662																																						.											0													33.0	45.0	41.0					2																	114257162		2197	4271	6468	SO:0001583	missense	200350			AF452723	CCDS2117.1	2q14.1	2008-02-05			ENSG00000184492	ENSG00000184492			18521	protein-coding gene	gene with protein product		611084				12421752, 15233989	Standard	NM_012184		Approved	FOXD5	uc002tjw.4	Q9NU39	OTTHUMG00000131359	ENST00000306507.5:c.329A>C	2.37:g.114257162A>C	ENSP00000302756:p.Tyr110Ser		B3KWN1|B9EGF3	Missense_Mutation	SNP	ENST00000306507.5	37	CCDS2117.1	.	.	.	.	.	.	.	.	.	.	.	16.46	3.128625	0.56721	.	.	ENSG00000184492	ENST00000306507	D	0.95980	-3.87	2.85	2.85	0.33270	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);Transcription factor, fork head, conserved site (1);	0.000000	0.31404	U	0.007714	D	0.96222	0.8768	H	0.96048	3.76	0.58432	D	0.999999	B	0.27068	0.167	B	0.30716	0.119	D	0.95549	0.8619	10	0.62326	D	0.03	.	9.1315	0.36848	1.0:0.0:0.0:0.0	.	110	Q9NU39	FX4L1_HUMAN	S	110	ENSP00000302756:Y110S	ENSP00000302756:Y110S	Y	+	2	0	FOXD4L1	113973632	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	5.507000	0.66999	1.309000	0.44985	0.155000	0.16302	TAC		0.662	FOXD4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254148.1	NM_012184	
HEATR2	54919	mdanderson.org	37	7	814788	814788	+	Missense_Mutation	SNP	G	G	A	rs3922641	byFrequency	TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr7:814788G>A	ENST00000297440.6	+	11	2248	c.2228G>A	c.(2227-2229)aGg>aAg	p.R743K	HEATR2_ENST00000313147.5_Missense_Mutation_p.R743K|HEATR2_ENST00000403952.3_Missense_Mutation_p.R168K	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	743			R -> K (in dbSNP:rs3922641). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005}.			cytoplasm (GO:0005737)				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		AAACTCATCAGGATTTATCCT	0.498											OREG0026740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A|||	3349	0.66873	0.7413	0.6744	5008	,	,		19595	0.62		0.6054	False		,,,				2504	0.682					.											0									LYS/ARG	3053,1353	448.3+/-348.6	1066,921,216	78.0	78.0	78.0		2228	2.8	0.8	7	dbSNP_108	78	5101,3499	509.6+/-377.3	1531,2039,730	yes	missense	HEATR2	NM_017802.3	26	2597,2960,946	AA,AG,GG		40.686,30.7081,37.3059	benign	743/856	814788	8154,4852	2203	4300	6503	SO:0001583	missense	54919			AL832914, AK000404, NM_017802, AK056233	CCDS34580.1	7p22.3	2014-05-06	2006-05-19		ENSG00000164818	ENSG00000164818			26013	protein-coding gene	gene with protein product		614864				23040496	Standard	NM_017802		Approved	FLJ20397, FLJ31671, FLJ39381, FLJ25564, CILD18	uc010krz.1	Q86Y56	OTTHUMG00000151416	ENST00000297440.6:c.2228G>A	7.37:g.814788G>A	ENSP00000297440:p.Arg743Lys	591	Q69YL1|Q96FI9|Q9NX75	Missense_Mutation	SNP	ENST00000297440.6	37	CCDS34580.1	1426	0.6529304029304029	382	0.7764227642276422	238	0.6574585635359116	362	0.6328671328671329	444	0.5857519788918206	A	3.916	-0.019136	0.07634	0.692919	0.59314	ENSG00000164818	ENST00000297440;ENST00000313147;ENST00000537862;ENST00000403952	T;T;T	0.65916	-0.18;-0.18;-0.18	5.15	2.76	0.32466	Armadillo-like helical (1);Armadillo-type fold (1);	0.158601	0.56097	N	0.000039	T	0.00012	0.0000	N	0.00419	-1.52	0.54753	P	1.0999999999983245E-5	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.44997	-0.9291	9	0.02654	T	1	-37.6408	8.382	0.32477	0.7649:0.0:0.2351:0.0	rs3922641;rs4333481;rs17135871;rs17355743;rs35235720;rs3922641	743;168;489	Q86Y56;E9PGY2;F5H8D4	HEAT2_HUMAN;.;.	K	743;743;489;168	ENSP00000297440:R743K;ENSP00000321451:R743K;ENSP00000384884:R168K	ENSP00000297440:R743K	R	+	2	0	HEATR2	781314	1.000000	0.71417	0.786000	0.31890	0.907000	0.53573	0.903000	0.28475	0.009000	0.14813	-0.361000	0.07541	AGG		0.498	HEATR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322542.1	NM_017802	
KRTAP10-2	386679	mdanderson.org	37	21	45971152	45971152	+	Missense_Mutation	SNP	G	G	A	rs199607801	byFrequency	TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr21:45971152G>A	ENST00000391621.1	-	1	236	c.190C>T	c.(190-192)Ccc>Tcc	p.P64S	KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	64	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(4)|skin(1)	6						CAGGCGCTGGGCTCACAGGCC	0.706																																						.											0													33.0	39.0	37.0					21																	45971152		2198	4287	6485	SO:0001583	missense	386679			AJ566381	CCDS42955.1	21q22.3	2007-10-05			ENSG00000205445	ENSG00000205445		"""Keratin associated proteins"""	22967	protein-coding gene	gene with protein product				KRTAP18-2			Standard	NM_198693		Approved	KAP10.2, KAP18.2	uc002zfi.1	P60368	OTTHUMG00000057625	ENST00000391621.1:c.190C>T	21.37:g.45971152G>A	ENSP00000375479:p.Pro64Ser		Q70LJ5	Missense_Mutation	SNP	ENST00000391621.1	37	CCDS42955.1	.	.	.	.	.	.	.	.	.	.	g	0.927	-0.713936	0.03206	.	.	ENSG00000205445	ENST00000391621	T	0.00672	5.89	2.06	-0.231	0.13086	.	.	.	.	.	T	0.00552	0.0018	N	0.13140	0.3	0.09310	N	1	B	0.20164	0.042	B	0.10450	0.005	T	0.44982	-0.9292	9	0.33940	T	0.23	.	5.0625	0.14564	0.3226:0.0:0.6774:0.0	.	64	P60368	KR102_HUMAN	S	64	ENSP00000375479:P64S	ENSP00000375479:P64S	P	-	1	0	KRTAP10-2	44795580	0.000000	0.05858	0.165000	0.22776	0.031000	0.12232	-0.338000	0.07842	-0.390000	0.07774	0.306000	0.20318	CCC		0.706	KRTAP10-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128027.1		
KMT2C	58508	mdanderson.org	37	7	151932990	151932990	+	Missense_Mutation	SNP	C	C	T	rs76844681		TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr7:151932990C>T	ENST00000262189.6	-	16	2899	c.2681G>A	c.(2680-2682)cGg>cAg	p.R894Q	KMT2C_ENST00000355193.2_Missense_Mutation_p.R894Q	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	894					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TCGAGGTCTCCGCTTTCCTGG	0.502																																						.											0													33.0	34.0	33.0					7																	151932990		2202	4295	6497	SO:0001583	missense	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2681G>A	7.37:g.151932990C>T	ENSP00000262189:p.Arg894Gln		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.710284	0.89018	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.89485	-2.5;-2.52	5.1	5.1	0.69264	.	0.000000	0.42294	D	0.000721	D	0.93314	0.7869	M	0.63843	1.955	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	D	0.93742	0.7051	10	0.66056	D	0.02	.	17.0444	0.86498	0.0:1.0:0.0:0.0	.	894	Q8NEZ4	MLL3_HUMAN	Q	894	ENSP00000262189:R894Q;ENSP00000347325:R894Q	ENSP00000262189:R894Q	R	-	2	0	MLL3	151563923	1.000000	0.71417	0.996000	0.52242	0.951000	0.60555	7.268000	0.78473	2.530000	0.85305	0.650000	0.86243	CGG		0.502	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		
MUC16	94025	mdanderson.org	37	19	8999395	8999395	+	Missense_Mutation	SNP	T	T	C	rs200813849		TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr19:8999395T>C	ENST00000397910.4	-	56	40983	c.40780A>G	c.(40780-40782)Aat>Gat	p.N13594D	MUC16_ENST00000380951.5_Missense_Mutation_p.N235D	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13596	SEA 10. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TACTCACCATTGACATAGAGA	0.562																																						.											0													231.0	193.0	205.0					19																	8999395		2076	4217	6293	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.40780A>G	19.37:g.8999395T>C	ENSP00000381008:p.Asn13594Asp		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	13.42	2.232301	0.39498	.	.	ENSG00000181143	ENST00000397910;ENST00000380951	T;T	0.37584	1.19;1.19	3.48	2.46	0.29980	SEA (1);	.	.	.	.	T	0.56891	0.2016	M	0.86343	2.81	.	.	.	B;P	0.48911	0.235;0.917	B;D	0.63488	0.029;0.915	T	0.63659	-0.6587	8	0.52906	T	0.07	.	5.163	0.15071	0.0:0.1391:0.0:0.8609	.	21239;13594	Q8WXI7;B5ME49	MUC16_HUMAN;.	D	13594;235	ENSP00000381008:N13594D;ENSP00000370338:N235D	ENSP00000370338:N235D	N	-	1	0	MUC16	8860395	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	1.033000	0.30191	0.554000	0.29061	0.454000	0.30748	AAT		0.562	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	mdanderson.org	37	19	9002587	9002587	+	Missense_Mutation	SNP	C	C	T	rs201053591		TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr19:9002587C>T	ENST00000397910.4	-	51	40432	c.40229G>A	c.(40228-40230)cGg>cAg	p.R13410Q	MUC16_ENST00000380951.5_Missense_Mutation_p.R51Q	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13412	SEA 9. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCAGTACAGCCGCTCTCTGTC	0.597																																						.											0													133.0	121.0	125.0					19																	9002587		2098	4222	6320	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.40229G>A	19.37:g.9002587C>T	ENSP00000381008:p.Arg13410Gln		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	6.604|6.604	0.479880|0.479880	0.12581|0.12581	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000542240|ENST00000397910;ENST00000380951	.|T;T	.|0.28666	.|1.6;1.6	2.75|2.75	-5.21|-5.21	0.02815|0.02815	.|SEA (1);	.|.	.|.	.|.	.|.	T|T	0.24236|0.24236	0.0587|0.0587	.|.	.|.	.|.	.|.	.|.	.|.	.|B;P	.|0.50528	.|0.007;0.936	.|B;P	.|0.48089	.|0.003;0.566	T|T	0.32693|0.32693	-0.9897|-0.9897	3|7	.|0.08381	.|T	.|0.77	1.1855|1.1855	14.8189|14.8189	0.70055|0.70055	0.0:0.774:0.0:0.226|0.0:0.774:0.0:0.226	.|.	.|21055;13410	.|Q8WXI7;B5ME49	.|MUC16_HUMAN;.	S|Q	250|13410;51	.|ENSP00000381008:R13410Q;ENSP00000370338:R51Q	.|ENSP00000370338:R51Q	G|R	-|-	1|2	0|0	MUC16|MUC16	8863587|8863587	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-2.436000|-2.436000	0.01019|0.01019	-2.287000|-2.287000	0.00669|0.00669	-2.545000|-2.545000	0.00179|0.00179	GGC|CGG		0.597	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	mdanderson.org	37	19	9018539	9018539	+	Silent	SNP	C	C	T			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr19:9018539C>T	ENST00000397910.4	-	24	37838	c.37635G>A	c.(37633-37635)ctG>ctA	p.L12545L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12547	SEA 4. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGAGGGTGAACAGCACCAGGA	0.468																																						.											0													214.0	183.0	193.0					19																	9018539		1952	4160	6112	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.37635G>A	19.37:g.9018539C>T			Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC4	4585	mdanderson.org	37	3	195509180	195509180	+	Missense_Mutation	SNP	C	C	G	rs62282477		TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr3:195509180C>G	ENST00000463781.3	-	2	9730	c.9271G>C	c.(9271-9273)Gtc>Ctc	p.V3091L	MUC4_ENST00000475231.1_Missense_Mutation_p.V3091L|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.V3091L(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGGCTGGTGACAGGAAGAGGG	0.597																																						.											1	Substitution - Missense(1)	kidney(1)											14.0	11.0	12.0					3																	195509180		667	1551	2218	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.9271G>C	3.37:g.195509180C>G	ENSP00000417498:p.Val3091Leu		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	c	3.811	-0.039731	0.07497	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.30448	1.58;1.53	.	.	.	.	.	.	.	.	T	0.16642	0.0400	N	0.19112	0.55	0.19945	N	0.999946	B	0.14805	0.011	B	0.08055	0.003	T	0.27673	-1.0067	7	.	.	.	.	6.7489	0.23475	0.0:0.9997:0.0:3.0E-4	.	2963	E7ESK3	.	L	3091	ENSP00000417498:V3091L;ENSP00000420243:V3091L	.	V	-	1	0	MUC4	196993959	0.152000	0.22762	0.008000	0.14137	0.000000	0.00434	0.189000	0.17037	0.497000	0.27926	0.000000	0.15137	GTC		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
MUC4	4585	mdanderson.org	37	3	195513222	195513222	+	Silent	SNP	G	G	A	rs2688554|rs201226744	byFrequency	TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr3:195513222G>A	ENST00000463781.3	-	2	5688	c.5229C>T	c.(5227-5229)agC>agT	p.S1743S	MUC4_ENST00000475231.1_Silent_p.S1743S|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CAAGAAGAGGGCTGGCGTGAC	0.592																																						.											0													35.0	31.0	32.0					3																	195513222		692	1585	2277	SO:0001819	synonymous_variant	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.5229C>T	3.37:g.195513222G>A			O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	CCDS54700.1																																																																																				0.592	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
MUC6	4588	mdanderson.org	37	11	1018462	1018462	+	Missense_Mutation	SNP	C	C	T	rs79350029		TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr11:1018462C>T	ENST00000421673.2	-	31	4389	c.4339G>A	c.(4339-4341)Gtt>Att	p.V1447I		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1447	Pro-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AAAGGTGGAACGTGAGTGGGA	0.567																																						.											0													297.0	302.0	301.0					11																	1018462		2191	4284	6475	SO:0001583	missense	4588			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.4339G>A	11.37:g.1018462C>T	ENSP00000406861:p.Val1447Ile		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	c	3.884	-0.025431	0.07589	.	.	ENSG00000184956	ENST00000421673	T	0.18657	2.2	2.52	-4.4	0.03600	.	.	.	.	.	T	0.08582	0.0213	N	0.15975	0.35	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.38564	-0.9655	9	0.15952	T	0.53	.	4.7742	0.13171	0.0:0.1978:0.3386:0.4637	.	1447	Q6W4X9	MUC6_HUMAN	I	1447	ENSP00000406861:V1447I	ENSP00000406861:V1447I	V	-	1	0	MUC6	1008462	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.454000	0.01004	-0.928000	0.03761	-1.801000	0.00618	GTT		0.567	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540	
NASP	4678	mdanderson.org	37	1	46073299	46073299	+	Missense_Mutation	SNP	C	C	T	rs140271488		TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr1:46073299C>T	ENST00000350030.3	+	6	803	c.716C>T	c.(715-717)gCt>gTt	p.A239V	NASP_ENST00000537798.1_Missense_Mutation_p.A175V|NASP_ENST00000402363.3_Missense_Mutation_p.A241V|NASP_ENST00000351223.3_Intron|NASP_ENST00000372052.4_Intron	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	239	Glu-rich (acidic).|Histone-binding.				blastocyst development (GO:0001824)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone exchange (GO:0043486)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	Hsp90 protein binding (GO:0051879)	p.A241V(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					GTACCAGATGCTGAGGAAGAA	0.478																																						.											1	Substitution - Missense(1)	lung(1)											40.0	42.0	41.0					1																	46073299		2203	4298	6501	SO:0001583	missense	4678			M97856	CCDS524.1, CCDS525.1, CCDS55597.1	1p34.1	2013-01-10			ENSG00000132780	ENSG00000132780		"""Tetratricopeptide (TTC) repeat domain containing"""	7644	protein-coding gene	gene with protein product		603185				1426632	Standard	NM_002482		Approved	FLB7527, FLJ31599, FLJ35510, MGC19722, MGC20372, MGC2297, DKFZp547F162, PRO1999	uc001coi.2	P49321	OTTHUMG00000007826	ENST00000350030.3:c.716C>T	1.37:g.46073299C>T	ENSP00000255120:p.Ala239Val		A8K6H2|B4DQP3|D3DQ07|F5H3J2|Q53GW5|Q5T622|Q5T625|Q96A69|Q9BTW2	Missense_Mutation	SNP	ENST00000350030.3	37	CCDS524.1	.	.	.	.	.	.	.	.	.	.	C	8.758	0.922910	0.18056	.	.	ENSG00000132780	ENST00000537798;ENST00000402363;ENST00000341288;ENST00000350030;ENST00000470768	D;D;D;D	0.94793	-3.52;-3.52;-3.52;-3.52	4.39	4.39	0.52855	.	0.605538	0.17715	N	0.164452	D	0.90293	0.6964	L	0.29908	0.895	0.23063	N	0.998351	B;B;B;B;B	0.25312	0.037;0.077;0.123;0.022;0.037	B;B;B;B;B	0.21360	0.021;0.034;0.034;0.009;0.033	T	0.77925	-0.2405	9	.	.	.	0.3497	18.274	0.90077	0.0:1.0:0.0:0.0	.	175;239;139;239;241	F5H3J2;Q53H03;B4DS57;P49321;P49321-3	.;.;.;NASP_HUMAN;.	V	175;241;139;239;202	ENSP00000438871:A175V;ENSP00000384529:A241V;ENSP00000255120:A239V;ENSP00000436924:A202V	.	A	+	2	0	NASP	45845886	0.002000	0.14202	0.629000	0.29254	0.680000	0.39746	0.731000	0.26058	2.713000	0.92767	0.650000	0.86243	GCT		0.478	NASP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021533.2	NM_002482	
NASP	4678	mdanderson.org	37	1	46073323	46073323	+	Missense_Mutation	SNP	G	G	A	rs201683842		TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr1:46073323G>A	ENST00000350030.3	+	6	827	c.740G>A	c.(739-741)gGa>gAa	p.G247E	NASP_ENST00000537798.1_Missense_Mutation_p.G183E|NASP_ENST00000402363.3_Missense_Mutation_p.G249E|NASP_ENST00000351223.3_Intron|NASP_ENST00000372052.4_Intron	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	247	Glu-rich (acidic).				blastocyst development (GO:0001824)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone exchange (GO:0043486)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	Hsp90 protein binding (GO:0051879)	p.G249E(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					TCAGTTTCTGGAACTGATGTC	0.473																																						.											1	Substitution - Missense(1)	lung(1)											43.0	46.0	45.0					1																	46073323		2203	4300	6503	SO:0001583	missense	4678			M97856	CCDS524.1, CCDS525.1, CCDS55597.1	1p34.1	2013-01-10			ENSG00000132780	ENSG00000132780		"""Tetratricopeptide (TTC) repeat domain containing"""	7644	protein-coding gene	gene with protein product		603185				1426632	Standard	NM_002482		Approved	FLB7527, FLJ31599, FLJ35510, MGC19722, MGC20372, MGC2297, DKFZp547F162, PRO1999	uc001coi.2	P49321	OTTHUMG00000007826	ENST00000350030.3:c.740G>A	1.37:g.46073323G>A	ENSP00000255120:p.Gly247Glu		A8K6H2|B4DQP3|D3DQ07|F5H3J2|Q53GW5|Q5T622|Q5T625|Q96A69|Q9BTW2	Missense_Mutation	SNP	ENST00000350030.3	37	CCDS524.1	.	.	.	.	.	.	.	.	.	.	G	0.121	-1.126170	0.01770	.	.	ENSG00000132780	ENST00000537798;ENST00000402363;ENST00000341288;ENST00000350030;ENST00000470768	D;D;D;D	0.95377	-3.69;-3.69;-3.69;-3.69	5.19	-1.08	0.09936	.	0.955842	0.08790	N	0.893395	D	0.86657	0.5985	N	0.17082	0.46	0.09310	N	1	B;B;B;B;B	0.10296	0.001;0.001;0.003;0.001;0.001	B;B;B;B;B	0.09377	0.002;0.002;0.004;0.001;0.003	T	0.73990	-0.3808	9	.	.	.	-2.703	1.0065	0.01488	0.3429:0.1482:0.3567:0.1523	.	183;247;147;247;249	F5H3J2;Q53H03;B4DS57;P49321;P49321-3	.;.;.;NASP_HUMAN;.	E	183;249;147;247;210	ENSP00000438871:G183E;ENSP00000384529:G249E;ENSP00000255120:G247E;ENSP00000436924:G210E	.	G	+	2	0	NASP	45845910	0.026000	0.19158	0.163000	0.22734	0.251000	0.25915	0.266000	0.18534	-0.078000	0.12730	-0.157000	0.13467	GGA		0.473	NASP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021533.2	NM_002482	
NBPF10	100132406	mdanderson.org	37	1	145296448	145296448	+	Missense_Mutation	SNP	T	T	A	rs4996268		TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr1:145296448T>A	ENST00000342960.5	+	3	405	c.370T>A	c.(370-372)Tat>Aat	p.Y124N	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	124						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.Y124N(2)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CCGCTCATTGTATGAGCATCT	0.562																																						.											2	Substitution - Missense(2)	kidney(2)																																								SO:0001583	missense	100132406			BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.370T>A	1.37:g.145296448T>A	ENSP00000345684:p.Tyr124Asn		Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-2.880827	0.00061	.	.	ENSG00000163386	ENST00000369339;ENST00000448873;ENST00000342960	T	0.02552	4.25	1.04	-2.09	0.07232	.	.	.	.	.	T	0.00109	0.0003	N	0.00075	-2.25	0.09310	N	1	.	.	.	.	.	.	T	0.35351	-0.9792	7	0.02654	T	1	.	3.206	0.06666	0.3078:0.4616:0.0:0.2307	rs4996268	.	.	.	N	124;49;124	ENSP00000345684:Y124N	ENSP00000345684:Y124N	Y	+	1	0	NBPF10	144007805	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.048000	0.14078	-3.520000	0.00148	-3.904000	0.00016	TAT		0.562	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703	
PCMTD1	115294	mdanderson.org	37	8	52733227	52733227	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr8:52733227C>T	ENST00000360540.5	-	7	1164	c.758G>A	c.(757-759)cGc>cAc	p.R253H	PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000544451.1_Missense_Mutation_p.R177H|PCMTD1_ENST00000522514.1_Missense_Mutation_p.R253H	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	253						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)	p.R253H(3)		NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				TCTAAGTGTGCGTCGAATGTA	0.378																																						.											3	Substitution - Missense(3)	skin(3)											66.0	68.0	67.0					8																	52733227		2203	4300	6503	SO:0001583	missense	115294				CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.758G>A	8.37:g.52733227C>T	ENSP00000353739:p.Arg253His		Q96FK9	Missense_Mutation	SNP	ENST00000360540.5	37	CCDS6148.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.387497	0.61956	.	.	ENSG00000168300	ENST00000360540;ENST00000544451;ENST00000522514	T;T;T	0.44083	1.52;0.93;1.52	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.56031	0.1958	L	0.42245	1.32	0.80722	D	1	P;D;B	0.89917	0.653;1.0;0.051	B;D;B	0.66196	0.059;0.942;0.02	T	0.39623	-0.9605	10	0.20046	T	0.44	-15.7151	19.9832	0.97338	0.0:1.0:0.0:0.0	.	123;177;253	B4E2B4;F5H1M8;Q96MG8	.;.;PCMD1_HUMAN	H	253;177;253	ENSP00000353739:R253H;ENSP00000444026:R177H;ENSP00000428099:R253H	ENSP00000353739:R253H	R	-	2	0	PCMTD1	52895780	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	7.046000	0.76592	2.722000	0.93159	0.655000	0.94253	CGC		0.378	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937	
PITRM1	10531	mdanderson.org	37	10	3208557	3208557	+	Silent	SNP	A	A	G	rs12359035	byFrequency	TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr10:3208557A>G	ENST00000224949.4	-	4	316	c.282T>C	c.(280-282)acT>acC	p.T94T	PITRM1_ENST00000451104.2_Silent_p.T62T|PITRM1_ENST00000380989.2_Silent_p.T94T|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1-AS1_ENST00000598280.1_RNA			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	94					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						CCATGGGAGTAGTACGGAACT	0.493													G|||	3203	0.639577	0.5915	0.5807	5008	,	,		19010	0.6042		0.7018	False		,,,				2504	0.7188					.											0								G	,,	2671,1411		877,917,247	107.0	107.0	107.0		282,186,282	-5.1	0.2	10	dbSNP_120	107	6043,2313		2165,1713,300	no	coding-synonymous,coding-synonymous,coding-synonymous	PITRM1	NM_001242307.1,NM_001242309.1,NM_014889.3	,,	3042,2630,547	GG,GA,AA		27.6807,34.5664,29.9405	,,	94/1039,62/940,94/1038	3208557	8714,3724	2041	4178	6219	SO:0001819	synonymous_variant	10531			AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"""PreP peptidasome"""		"""pitrilysin metalloproteinase 1"""			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.282T>C	10.37:g.3208557A>G			B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Silent	SNP	ENST00000224949.4	37	CCDS59208.1																																																																																				0.493	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2		
SPERT	220082	mdanderson.org	37	13	46288145	46288145	+	Missense_Mutation	SNP	A	A	G	rs7317245	byFrequency	TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr13:46288145A>G	ENST00000310521.1	+	3	1065	c.985A>G	c.(985-987)Aag>Gag	p.K329E	SPERT_ENST00000378966.3_Missense_Mutation_p.K293E	NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	spermatid associated	329			K -> E (in dbSNP:rs7317245).			cytoplasmic membrane-bounded vesicle (GO:0016023)				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		CGCCCTGCGGAAGATGGTCAG	0.716													g|||	2477	0.494609	0.3003	0.4914	5008	,	,		15278	0.5		0.6869	False		,,,				2504	0.5562					.											0									GLU/LYS	1638,2406		401,836,785	4.0	4.0	4.0		985	3.2	0.9	13	dbSNP_116	4	5608,2244		2132,1344,450	yes	missense	SPERT	NM_152719.1	56	2533,2180,1235	GG,GA,AA		28.5787,40.5045,39.0888	benign	329/449	46288145	7246,4650	2022	3926	5948	SO:0001583	missense	220082			AK093129	CCDS9399.1, CCDS66540.1	13q14.13	2010-03-23			ENSG00000174015	ENSG00000174015			30720	protein-coding gene	gene with protein product	"""spermatid flower-like structure protein"", ""testis specific leucine zipper protein nurit"", ""chibby homolog 2 (Drosophila)"""					12204287, 20096028	Standard	NM_001286341		Approved	NURIT, CBY2	uc001van.1	Q8NA61	OTTHUMG00000016861	ENST00000310521.1:c.985A>G	13.37:g.46288145A>G	ENSP00000309189:p.Lys329Glu		A8K8I5|Q8NHV2	Missense_Mutation	SNP	ENST00000310521.1	37	CCDS9399.1	1169	0.5352564102564102	163	0.3313008130081301	196	0.5414364640883977	285	0.4982517482517482	525	0.6926121372031663	G	0.009	-1.812861	0.00600	0.405045	0.714213	ENSG00000174015	ENST00000310521;ENST00000378966	T;T	0.39056	1.1;1.19	4.9	3.16	0.36331	.	0.382628	0.22713	N	0.056559	T	0.00012	0.0000	N	0.01352	-0.895	0.58432	P	1.999999999946489E-6	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44050	-0.9353	9	0.02654	T	1	.	5.0269	0.14389	0.19:0.1856:0.6243:0.0	rs7317245;rs61188622;rs7317245	293;329	Q8NA61-2;Q8NA61	.;SPERT_HUMAN	E	329;293	ENSP00000309189:K329E;ENSP00000368249:K293E	ENSP00000309189:K329E	K	+	1	0	SPERT	45186146	0.996000	0.38824	0.890000	0.34922	0.030000	0.12068	1.217000	0.32455	0.277000	0.22141	-0.119000	0.15052	AAG		0.716	SPERT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044786.2	NM_152719	
ZNF28	7576	mdanderson.org	37	19	53303332	53303332	+	Missense_Mutation	SNP	C	C	T	rs142442328		TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr19:53303332C>T	ENST00000457749.2	-	4	1885	c.1766G>A	c.(1765-1767)cGg>cAg	p.R589Q	ZNF28_ENST00000414252.2_Missense_Mutation_p.R536Q|ZNF28_ENST00000438150.2_Missense_Mutation_p.R536Q|ZNF28_ENST00000360272.4_Missense_Mutation_p.R536Q	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	589					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TGAATCCCTCCGGAAAGCCTT	0.443																																						.											0													161.0	161.0	161.0					19																	53303332		2203	4300	6503	SO:0001583	missense	7576			X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"""Zinc fingers, C2H2-type"", ""-"""	13073	protein-coding gene	gene with protein product			"""zinc finger protein 28 (KOX 24)"""				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.1766G>A	19.37:g.53303332C>T	ENSP00000397693:p.Arg589Gln		A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	0.725	-0.782048	0.02907	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252;ENST00000391783	T;T;T;T;T	0.07444	3.19;3.19;3.19;3.19;3.19	1.61	-3.23	0.05109	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05823	0.0152	L	0.39085	1.19	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27468	-1.0073	9	0.46703	T	0.11	.	3.1903	0.06615	0.1094:0.4603:0.1859:0.2444	.	589	P17035	ZNF28_HUMAN	Q	536;589;536;536;536	ENSP00000412143:R536Q;ENSP00000397693:R589Q;ENSP00000353410:R536Q;ENSP00000444965:R536Q;ENSP00000375661:R536Q	ENSP00000353410:R536Q	R	-	2	0	ZNF28	57995144	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.783000	0.00054	-4.045000	0.00079	-2.453000	0.00207	CGG		0.443	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969	
PRG4	10216	bcgsc.ca	37	1	186276175	186276175	+	Missense_Mutation	SNP	A	A	G	rs140988757	byFrequency	TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr1:186276175A>G	ENST00000445192.2	+	7	1369	c.1324A>G	c.(1324-1326)Aag>Gag	p.K442E	PRG4_ENST00000367486.3_Missense_Mutation_p.K399E|PRG4_ENST00000367485.4_Missense_Mutation_p.K349E|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.K401E	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	442	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCCCAAGAAGCCTGCCCC	0.657													-|||	20	0.00399361	0.0144	0.0014	5008	,	,		8466	0.0		0.0	False		,,,				2504	0.0					.											0													75.0	83.0	80.0					1																	186276175		2203	4296	6499	SO:0001583	missense	10216			U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1324A>G	1.37:g.186276175A>G	ENSP00000399679:p.Lys442Glu		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	-	6.561	0.471796	0.12461	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.04809	3.55;3.66;3.57;3.67	3.62	-0.972	0.10300	.	428.404000	0.00941	N	0.002827	T	0.01421	0.0046	N	0.00332	-1.63	0.09310	N	0.999999	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.001	T	0.42548	-0.9445	9	.	.	.	.	5.2924	0.15735	0.3354:0.2617:0.403:0.0	.	308;349;442;401	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	E	399;308;401;349;442	ENSP00000356456:K399E;ENSP00000356453:K401E;ENSP00000356455:K349E;ENSP00000399679:K442E	.	K	+	1	0	PRG4	184542798	.	.	0.001000	0.08648	0.010000	0.07245	.	.	-0.119000	0.11830	-0.386000	0.06593	AAG		0.657	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807	
BACE1	23621	bcgsc.ca	37	11	117163879	117163881	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-KN-8418-01A-11D-2310-10	TCGA-KN-8418-11A-01D-2310-10	CAG	CAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9a90f951-ad96-4883-b97f-ac43395dae5d	3fd6a085-bd95-4632-af35-79f1ba65fe96	g.chr11:117163879_117163881delCAG	ENST00000313005.6	-	5	1189_1191	c.729_731delCTG	c.(727-732)tcctgg>tcg	p.W244del	BACE1_ENST00000428381.2_In_Frame_Del_p.W175del|BACE1_ENST00000514464.1_5'Flank|BACE1_ENST00000528053.1_In_Frame_Del_p.W244del|BACE1_ENST00000392937.6_In_Frame_Del_p.W144del|BACE1_ENST00000445823.2_In_Frame_Del_p.W200del|BACE1_ENST00000513780.1_In_Frame_Del_p.W219del|BACE1_ENST00000510630.1_In_Frame_Del_p.W119del	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1	244					beta-amyloid metabolic process (GO:0050435)|membrane protein ectodomain proteolysis (GO:0006509)|proteolysis (GO:0006508)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	aspartic-type endopeptidase activity (GO:0004190)|beta-amyloid binding (GO:0001540)|beta-aspartyl-peptidase activity (GO:0008798)|enzyme binding (GO:0019899)			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		GCCTGTGTACAGCGAGTGGTCGA	0.512																																						.											0																																										SO:0001651	inframe_deletion	23621			AF190725	CCDS8383.1, CCDS44739.1, CCDS44740.1, CCDS44741.1, CCDS55787.1, CCDS55786.1	11q23-q24	2011-07-27	2004-04-02	2004-04-02	ENSG00000186318	ENSG00000186318			933	protein-coding gene	gene with protein product		604252	"""beta-site APP-cleaving enzyme"""	BACE		10531052	Standard	NM_012104		Approved		uc001pqz.3	P56817	OTTHUMG00000160636	ENST00000313005.6:c.729_731delCTG	11.37:g.117163879_117163881delCAG	ENSP00000318585:p.Trp244del		A0M8W7|B0YIU9|E9PE65|H7BXJ9|Q9BYB9|Q9BYC0|Q9BYC1|Q9UJT5|Q9ULS1	In_Frame_Del	DEL	ENST00000313005.6	37	CCDS8383.1																																																																																				0.512	BACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361505.1		
