#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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ACVRL1	94	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	52312803	52312803	+	Silent	SNP	T	T	C			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr12:52312803T>C	ENST00000388922.4	+	9	1564	c.1281T>C	c.(1279-1281)gaT>gaC	p.D427D	ACVRL1_ENST00000550683.1_Silent_p.D441D|ACVRL1_ENST00000419526.2_Silent_p.D253D	NM_000020.2	NP_000011.2	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	427	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|artery development (GO:0060840)|blood circulation (GO:0008015)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|blood vessel maturation (GO:0001955)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|cellular response to transforming growth factor beta stimulus (GO:0071560)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of focal adhesion assembly (GO:0051895)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of blood pressure (GO:0008217)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of DNA replication (GO:0006275)|regulation of endothelial cell proliferation (GO:0001936)|regulation of transcription, DNA-templated (GO:0006355)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|venous blood vessel development (GO:0060841)|wound healing, spreading of epidermal cells (GO:0035313)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)	p.D427D(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CCTTCTATGATGTGGTGCCCA	0.552																																																	1	Substitution - coding silent(1)	kidney(1)											168.0	134.0	145.0					12																	52312803		2203	4300	6503	SO:0001819	synonymous_variant	94			L17075	CCDS31804.1	12q13.13	2014-09-17			ENSG00000139567	ENSG00000139567			175	protein-coding gene	gene with protein product		601284		ACVRLK1, ORW2		8397373, 8640225	Standard	NM_000020		Approved	HHT2, ALK1, HHT	uc001rzk.3	P37023	OTTHUMG00000169507	ENST00000388922.4:c.1281T>C	12.37:g.52312803T>C			A6NGA8	Silent	SNP	ENST00000388922.4	37	CCDS31804.1																																																																																				0.552	ACVRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404520.2			
ADAM10	102	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	58904077	58904077	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr15:58904077A>G	ENST00000260408.3	-	12	2068	c.1625T>C	c.(1624-1626)cTc>cCc	p.L542P	ADAM10_ENST00000396140.2_Missense_Mutation_p.L241P|ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000402627.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	542	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				cell death (GO:0008219)|cell-cell signaling (GO:0007267)|collagen catabolic process (GO:0030574)|constitutive protein ectodomain proteolysis (GO:0051089)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|negative regulation of cell adhesion (GO:0007162)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell chemotaxis (GO:0010820)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|tetraspanin-enriched microdomain (GO:0097197)	endopeptidase activity (GO:0004175)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)	p.L542P(1)		breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		TGCTGGGCAGAGAGCTGTGAA	0.413																																																	1	Substitution - Missense(1)	kidney(1)											160.0	129.0	139.0					15																	58904077		2192	4292	6484	SO:0001583	missense	102			AF009615	CCDS10167.1	15q2	2006-09-25	2005-08-18		ENSG00000137845	ENSG00000137845		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	188	protein-coding gene	gene with protein product		602192	"""a disintegrin and metalloproteinase domain 10"""			9344679, 9441766	Standard	XM_005254117		Approved	kuz, MADM, HsT18717, CD156c	uc002afd.1	O14672	OTTHUMG00000132633	ENST00000260408.3:c.1625T>C	15.37:g.58904077A>G	ENSP00000260408:p.Leu542Pro		B4DU28|Q10742|Q92650	Missense_Mutation	SNP	ENST00000260408.3	37	CCDS10167.1	.	.	.	.	.	.	.	.	.	.	A	14.08	2.429976	0.43122	.	.	ENSG00000137845	ENST00000260408;ENST00000396136;ENST00000396140	T;T	0.11495	2.77;2.77	5.92	5.92	0.95590	Blood coagulation inhibitor, Disintegrin (5);	0.271707	0.38005	N	0.001858	T	0.21921	0.0528	M	0.77103	2.36	0.80722	D	1	P;B;B	0.37985	0.613;0.261;0.431	P;B;B	0.45167	0.472;0.352;0.352	T	0.00832	-1.1548	10	0.48119	T	0.1	-12.7837	11.4503	0.50149	0.8656:0.0:0.0:0.1344	.	241;361;542	B4DU28;A8MY20;O14672	.;.;ADA10_HUMAN	P	542;361;241	ENSP00000260408:L542P;ENSP00000379444:L241P	ENSP00000260408:L542P	L	-	2	0	ADAM10	56691369	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	3.556000	0.53734	2.254000	0.74563	0.528000	0.53228	CTC		0.413	ADAM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255880.2		NM_001110	
ALPK3	57538	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	85405941	85405941	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr15:85405941T>C	ENST00000258888.5	+	10	4978	c.4811T>C	c.(4810-4812)cTc>cCc	p.L1604P		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1604	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.L1604P(2)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GGGGACAAGCTCTTTGGGCGA	0.582																																																	2	Substitution - Missense(2)	kidney(2)											59.0	59.0	59.0					15																	85405941		2203	4299	6502	SO:0001583	missense	57538			AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.4811T>C	15.37:g.85405941T>C	ENSP00000258888:p.Leu1604Pro		Q9P2L6	Missense_Mutation	SNP	ENST00000258888.5	37	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	T	18.84	3.709121	0.68615	.	.	ENSG00000136383	ENST00000258888	T	0.08546	3.08	4.97	4.97	0.65823	MHCK/EF2 kinase (1);Protein kinase-like domain (1);	0.165491	0.42548	D	0.000694	T	0.18882	0.0453	L	0.38175	1.15	0.58432	D	0.999999	D	0.69078	0.997	D	0.72338	0.977	T	0.00611	-1.1645	10	0.87932	D	0	-20.2924	12.6543	0.56778	0.0:0.0:0.0:1.0	.	1604	Q96L96	ALPK3_HUMAN	P	1604	ENSP00000258888:L1604P	ENSP00000258888:L1604P	L	+	2	0	ALPK3	83206945	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.614000	0.61183	2.085000	0.62840	0.533000	0.62120	CTC		0.582	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1		NM_020778	
ARID1A	8289	hgsc.bcm.edu	37	1	27106455	27106455	+	Silent	SNP	A	A	C			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr1:27106455A>C	ENST00000324856.7	+	20	6437	c.6066A>C	c.(6064-6066)ccA>ccC	p.P2022P	ARID1A_ENST00000457599.2_Silent_p.P1805P|ARID1A_ENST00000540690.1_Silent_p.P350P|ARID1A_ENST00000374152.2_Silent_p.P1639P	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2022					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		ACAAGCACCCAGAACGGAAGC	0.547			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0													119.0	108.0	112.0					1																	27106455		2203	4300	6503	SO:0001819	synonymous_variant	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.6066A>C	1.37:g.27106455A>C			D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Silent	SNP	ENST00000324856.7	37	CCDS285.1																																																																																				0.547	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2		NM_139135	
ARID1A	8289	hgsc.bcm.edu;ucsc.edu	37	1	27106460	27106460	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr1:27106460delG	ENST00000324856.7	+	20	6442	c.6071delG	c.(6070-6072)cggfs	p.R2024fs	ARID1A_ENST00000457599.2_Frame_Shift_Del_p.R1807fs|ARID1A_ENST00000540690.1_Frame_Shift_Del_p.R352fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.R1641fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2024					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CACCCAGAACGGAAGCAGGCA	0.552			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0													122.0	112.0	116.0					1																	27106460		2203	4300	6503	SO:0001589	frameshift_variant	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.6071delG	1.37:g.27106460delG	ENSP00000320485:p.Arg2024fs		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Del	DEL	ENST00000324856.7	37	CCDS285.1																																																																																				0.552	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2		NM_139135	
ASPM	259266	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	197091068	197091068	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr1:197091068T>C	ENST00000367409.4	-	16	4103	c.3847A>G	c.(3847-3849)Aaa>Gaa	p.K1283E	ASPM_ENST00000294732.7_Missense_Mutation_p.K1283E|ASPM_ENST00000367408.1_Missense_Mutation_p.K533E	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1283					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.K1283E(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AGATCTGTTTTTAGTTTATAT	0.313																																																	1	Substitution - Missense(1)	kidney(1)											120.0	119.0	119.0					1																	197091068		2203	4300	6503	SO:0001583	missense	259266			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.3847A>G	1.37:g.197091068T>C	ENSP00000356379:p.Lys1283Glu		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	T	13.17	2.158140	0.38119	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408	D;D;D	0.84070	-1.8;-1.8;-1.8	5.84	4.69	0.59074	.	0.299034	0.32769	N	0.005666	D	0.84552	0.5497	L	0.53249	1.67	0.09310	N	1	P;P	0.51933	0.657;0.949	B;P	0.52189	0.197;0.692	T	0.77747	-0.2472	10	0.62326	D	0.03	.	12.578	0.56375	0.0:0.0:0.1385:0.8615	.	1283;1283	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	E	1283;1283;533	ENSP00000356379:K1283E;ENSP00000294732:K1283E;ENSP00000356378:K533E	ENSP00000294732:K1283E	K	-	1	0	ASPM	195357691	0.993000	0.37304	0.006000	0.13384	0.657000	0.38888	4.038000	0.57318	1.001000	0.39076	0.533000	0.62120	AAA		0.313	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1		NM_018136	
ASPM	259266	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	197091070	197091070	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr1:197091070A>G	ENST00000367409.4	-	16	4101	c.3845T>C	c.(3844-3846)cTa>cCa	p.L1282P	ASPM_ENST00000294732.7_Missense_Mutation_p.L1282P|ASPM_ENST00000367408.1_Missense_Mutation_p.L532P	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1282					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.L1282P(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ATCTGTTTTTAGTTTATATTT	0.318																																																	1	Substitution - Missense(1)	kidney(1)											119.0	118.0	118.0					1																	197091070		2203	4300	6503	SO:0001583	missense	259266			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.3845T>C	1.37:g.197091070A>G	ENSP00000356379:p.Leu1282Pro		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	A	14.73	2.621270	0.46736	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408	D;D;D	0.83335	-1.71;-1.71;-1.71	5.84	3.51	0.40186	.	0.336929	0.24649	N	0.036738	T	0.82006	0.4943	L	0.50993	1.605	0.27753	N	0.944071	D;D	0.57899	0.981;0.97	P;P	0.52267	0.694;0.688	T	0.74581	-0.3618	10	0.56958	D	0.05	.	7.3485	0.26676	0.8018:0.0:0.0696:0.1286	.	1282;1282	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	P	1282;1282;532	ENSP00000356379:L1282P;ENSP00000294732:L1282P;ENSP00000356378:L532P	ENSP00000294732:L1282P	L	-	2	0	ASPM	195357693	0.999000	0.42202	0.002000	0.10522	0.641000	0.38312	6.474000	0.73578	0.462000	0.27095	-0.250000	0.11733	CTA		0.318	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1		NM_018136	
ZGRF1	55345	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	113510905	113510905	+	Silent	SNP	A	A	G			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr4:113510905A>G	ENST00000505019.1	-	11	3227	c.3102T>C	c.(3100-3102)gaT>gaC	p.D1034D	C4orf21_ENST00000309071.5_Silent_p.D1034D	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		1034						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.D1034D(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		AATGAAGATCATCAGGTAAAG	0.363																																																	2	Substitution - coding silent(2)	kidney(2)											106.0	108.0	107.0					4																	113510905		2203	4300	6503	SO:0001819	synonymous_variant	55345																														ENST00000505019.1:c.3102T>C	4.37:g.113510905A>G			B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Silent	SNP	ENST00000505019.1	37																																																																																					0.363	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			
ZGRF1	55345	hgsc.bcm.edu;ucsc.edu	37	4	113540563	113540564	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr4:113540563_113540564insA	ENST00000505019.1	-	6	759_760	c.634_635insT	c.(634-636)tatfs	p.Y212fs	C4orf21_ENST00000309071.5_Frame_Shift_Ins_p.Y212fs|C4orf21_ENST00000445203.2_Frame_Shift_Ins_p.Y181fs	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		212						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TGAGCAAAAATAATTTTCTTCA	0.391																																																	0																																										SO:0001589	frameshift_variant	55345																														ENST00000505019.1:c.635dupT	4.37:g.113540565_113540565dupA	ENSP00000424737:p.Tyr212fs		B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Frame_Shift_Ins	INS	ENST00000505019.1	37																																																																																					0.391	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			
CACNA1S	779	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	201029896	201029896	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr1:201029896T>G	ENST00000362061.3	-	26	3530	c.3304A>C	c.(3304-3306)Att>Ctt	p.I1102L	CACNA1S_ENST00000367338.3_Missense_Mutation_p.I1102L	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1102					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.I1102L(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TTTTTGGGAATGTAGCACCTC	0.532																																																	1	Substitution - Missense(1)	kidney(1)											290.0	281.0	284.0					1																	201029896		2203	4300	6503	SO:0001583	missense	779			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.3304A>C	1.37:g.201029896T>G	ENSP00000355192:p.Ile1102Leu		A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.518688	0.85495	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.96104	-3.91;-3.83	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	D	0.97820	0.9284	M	0.87180	2.865	0.54753	D	0.999989	D	0.63046	0.992	D	0.77557	0.99	D	0.98773	1.0729	10	0.87932	D	0	.	14.9443	0.71016	0.0:0.0:0.0:1.0	.	1102	Q13698	CAC1S_HUMAN	L	1102	ENSP00000355192:I1102L;ENSP00000356307:I1102L	ENSP00000355192:I1102L	I	-	1	0	CACNA1S	199296519	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	8.000000	0.88501	2.057000	0.61298	0.533000	0.62120	ATT		0.532	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1		NM_000069	
MICU1	10367	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	74326491	74326491	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr10:74326491G>T	ENST00000361114.5	-	2	157	c.61C>A	c.(61-63)Cat>Aat	p.H21N	MICU1_ENST00000604025.1_5'UTR|MICU1_ENST00000398761.4_Missense_Mutation_p.H21N|MICU1_ENST00000401998.3_Missense_Mutation_p.H21N	NM_001195518.1|NM_006077.3	NP_001182447.1|NP_006068.2	Q9BPX6	MICU1_HUMAN	mitochondrial calcium uptake 1	21					calcium ion import (GO:0070509)|calcium ion transmembrane import into mitochondrion (GO:0036444)|defense response (GO:0006952)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein homooligomerization (GO:0051260)	calcium channel complex (GO:0034704)|integral component of mitochondrial membrane (GO:0032592)|intracellular (GO:0005622)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|uniplex complex (GO:1990246)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)	p.H21N(1)									GATCCTCCATGGTACCATCGA	0.488																																																	1	Substitution - Missense(1)	kidney(1)											71.0	70.0	70.0					10																	74326491		1951	4163	6114	SO:0001583	missense	0			Y17711	CCDS55714.1, CCDS55715.1	10q22.1	2013-01-10	2011-06-23	2011-06-23	ENSG00000107745	ENSG00000107745		"""EF-hand domain containing"""	1530	protein-coding gene	gene with protein product		605084	"""calcium binding atopy-related autoantigen 1"""	CBARA1		9806765, 20693986	Standard	NM_006077		Approved	CALC, EFHA3, FLJ12684	uc001jtb.2	Q9BPX6	OTTHUMG00000018437	ENST00000361114.5:c.61C>A	10.37:g.74326491G>T	ENSP00000354415:p.His21Asn		A8MV96|B3KN20|B4DJH9|B4DPI1|B5MBY3|D3YTJ3|O75785|Q9H9N6|Q9UFX0	Missense_Mutation	SNP	ENST00000361114.5	37	CCDS55715.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.300647	0.81136	.	.	ENSG00000107745	ENST00000361114;ENST00000398761;ENST00000401998	D;D;D	0.81739	-1.52;-1.53;-1.53	5.91	5.91	0.95273	.	0.054502	0.64402	D	0.000001	T	0.74419	0.3714	L	0.50333	1.59	0.80722	D	1	P	0.40578	0.722	B	0.34652	0.187	T	0.77803	-0.2451	10	0.72032	D	0.01	.	13.0801	0.59109	0.0768:0.0:0.9232:0.0	.	21	Q9BPX6	MICU1_HUMAN	N	21	ENSP00000354415:H21N;ENSP00000381745:H21N;ENSP00000384068:H21N	ENSP00000354415:H21N	H	-	1	0	MICU1	73996497	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.606000	0.54095	2.813000	0.96785	0.655000	0.94253	CAT		0.488	MICU1-002	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048586.1		NM_006077	
CLCN6	1185	broad.mit.edu;hgsc.bcm.edu;ucsc.edu|broad.mit.edu;hgsc.bcm.edu	37	1	11876723	11876724	+	Missense_Mutation	DNP	GT	GT	AC			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	G|T	G|T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr1:11876723_11876724GT>AC	ENST00000346436.6	+	4	317_318	c.265_266GT>AC	c.(265-267)GTc>ACc	p.V89T	CLCN6_ENST00000376492.3_3'UTR|CLCN6_ENST00000312413.6_Missense_Mutation_p.V89T|CLCN6_ENST00000376496.3_Missense_Mutation_p.V89T|CLCN6_ENST00000376497.3_Missense_Mutation_p.V89T|CLCN6_ENST00000376487.3_Missense_Mutation_p.V67T	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	89					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)	p.V89I(1)|p.V89A(1)|p.V89>?(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TGCCATTGGAGTCTGCACTGGC	0.54																																																	3	Substitution - Missense(2)|Complex(1)	kidney(3)																																								SO:0001583	missense	1185			X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"""Ion channels / Chloride channels : Voltage-sensitive"""	2024	protein-coding gene	gene with protein product		602726	"""chloride channel 6"""			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	Exception_encountered	1.37:g.11876723_11876724delinsAC	ENSP00000234488:p.Val89Thr		A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Missense_Mutation	SNP	ENST00000346436.6	37	CCDS138.1																																																																																				0.540	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2		NM_001286	
CLEC11A	6320	broad.mit.edu;hgsc.bcm.edu	37	19	51228703	51228703	+	Silent	SNP	C	C	T	rs571444123		TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr19:51228703C>T	ENST00000250340.4	+	4	1148	c.951C>T	c.(949-951)taC>taT	p.Y317Y	CLEC11A_ENST00000599973.1_3'UTR	NM_002975.2	NP_002966.1	Q9Y240	CLC11_HUMAN	C-type lectin domain family 11, member A	317	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)	p.Y317Y(1)		kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	7		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		GTCTCTACTACGTCTGCGAGT	0.701																																																	1	Substitution - coding silent(1)	kidney(1)											19.0	15.0	16.0					19																	51228703		2151	4210	6361	SO:0001819	synonymous_variant	6320			AF087658	CCDS12800.1	19q13.3	2010-04-27	2005-02-09	2005-02-11		ENSG00000105472		"""C-type lectin domain containing"""	10576	protein-coding gene	gene with protein product		604713	"""stem cell growth factor; lymphocyte secreted C-type lectin"""	SCGF		9207134, 9442024	Standard	NM_002975		Approved	P47, LSLCL, CLECSF3	uc002psy.3	Q9Y240		ENST00000250340.4:c.951C>T	19.37:g.51228703C>T			B2RAD4	Silent	SNP	ENST00000250340.4	37	CCDS12800.1																																																																																				0.701	CLEC11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464062.1		NM_002975	
COL4A6	1288	broad.mit.edu;hgsc.bcm.edu	37	X	107681171	107681171	+	Splice_Site	SNP	C	C	A			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chrX:107681171C>A	ENST00000372216.4	-	2	167		c.e2+1		COL4A6_ENST00000394872.2_Splice_Site|COL4A6_ENST00000334504.7_Splice_Site|COL4A6_ENST00000538570.1_Splice_Site|COL4A6_ENST00000461897.1_Splice_Site|COL4A5_ENST00000328300.6_5'Flank|COL4A5_ENST00000361603.2_5'Flank|COL4A6_ENST00000545689.1_Splice_Site	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6						cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.?(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						AAGAGACTCACCGCTGCTGCC	0.552									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)												1	Unknown(1)	kidney(1)											87.0	69.0	75.0					X																	107681171		2203	4300	6503	SO:0001630	splice_region_variant	1288	Familial Cancer Database		U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.66+1G>T	X.37:g.107681171C>A			Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Splice_Site	SNP	ENST00000372216.4	37	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.548316	0.65311	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3185	0.60421	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL4A6	107567827	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.226000	0.51254	2.450000	0.82876	0.600000	0.82982	.		0.552	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			Intron
COQ10A	93058	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	56663289	56663289	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr12:56663289T>C	ENST00000308197.5	+	4	781	c.520T>C	c.(520-522)Tgg>Cgg	p.W174R	COQ10A_ENST00000433805.2_Missense_Mutation_p.W142R|COQ10A_ENST00000546544.1_Missense_Mutation_p.W157R|RP11-977G19.14_ENST00000546464.1_RNA	NM_144576.3	NP_653177.3	Q96MF6	CQ10A_HUMAN	coenzyme Q10 homolog A (S. cerevisiae)	174						mitochondrial inner membrane (GO:0005743)		p.W174R(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	8						AGAGACTATTTGGCGATTCAG	0.443																																																	1	Substitution - Missense(1)	kidney(1)											180.0	167.0	171.0					12																	56663289		1948	4167	6115	SO:0001583	missense	93058			AK057003	CCDS41796.1, CCDS44921.1	12q13.3	2011-09-16	2006-04-04		ENSG00000135469	ENSG00000135469			26515	protein-coding gene	gene with protein product			"""coenzyme Q10 homolog A (yeast)"""				Standard	NM_144576		Approved	FLJ32452	uc001sko.4	Q96MF6	OTTHUMG00000170283	ENST00000308197.5:c.520T>C	12.37:g.56663289T>C	ENSP00000312587:p.Trp174Arg		Q6GMR6|Q6UWB9|Q86X16|Q8TAL2|Q96MF1|Q9BUP4	Missense_Mutation	SNP	ENST00000308197.5	37	CCDS41796.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.452186	0.84209	.	.	ENSG00000135469	ENST00000308197;ENST00000433805;ENST00000546544	T;T;T	0.68331	-0.32;-0.1;-0.25	4.58	4.58	0.56647	START-like domain (1);	0.000000	0.85682	D	0.000000	D	0.87083	0.6089	H	0.96748	3.875	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.91048	0.4876	10	0.87932	D	0	.	13.3831	0.60780	0.0:0.0:0.0:1.0	.	157;179;174	Q96MF6-2;Q8TAL2;Q96MF6	.;.;CQ10A_HUMAN	R	174;142;157	ENSP00000312587:W174R;ENSP00000407843:W142R;ENSP00000446723:W157R	ENSP00000312587:W174R	W	+	1	0	COQ10A	54949556	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.574000	0.82434	2.072000	0.62099	0.459000	0.35465	TGG		0.443	COQ10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408332.1		NM_144576	
CYB5R3	1727	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	43024287	43024287	+	Splice_Site	SNP	C	C	A	rs371710254		TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr22:43024287C>A	ENST00000352397.5	-	5	586	c.334G>T	c.(334-336)Gtt>Ttt	p.V112F	CYB5R3_ENST00000396303.3_Splice_Site_p.V89F|CYB5R3_ENST00000407623.3_Splice_Site_p.V89F|CYB5R3_ENST00000402438.1_Splice_Site_p.V89F|CYB5R3_ENST00000361740.4_Splice_Site_p.V145F|CYB5R3_ENST00000407332.1_Splice_Site_p.V89F	NM_000398.6	NP_000389.1	P00387	NB5R3_HUMAN	cytochrome b5 reductase 3	112	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				blood circulation (GO:0008015)|cholesterol biosynthetic process (GO:0006695)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|hemoglobin complex (GO:0005833)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|FAD binding (GO:0071949)|flavin adenine dinucleotide binding (GO:0050660)|NAD binding (GO:0051287)	p.V145F(1)|p.V89F(1)		kidney(2)|large_intestine(1)|lung(2)|skin(1)	6					Flavin adenine dinucleotide(DB03147)	TTGAAGTAAACCTGCAAGACA	0.587																																																	2	Substitution - Missense(2)	kidney(2)											113.0	112.0	113.0					22																	43024287		2203	4300	6503	SO:0001630	splice_region_variant	1727			M16461	CCDS14040.1, CCDS33658.1, CCDS54535.1	22q13.2	2012-10-02		2005-07-13	ENSG00000100243	ENSG00000100243	1.6.2.2		2873	protein-coding gene	gene with protein product		613213	"""diaphorase (NADH) (cytochrome b-5 reductase)"""	DIA1		2479590, 3268037	Standard	NM_001129819		Approved		uc011aps.2	P00387	OTTHUMG00000150745	ENST00000352397.5:c.334-1G>T	22.37:g.43024287C>A			B1AHF2|B7Z7L3|O75675|Q8TDL8|Q8WTS8|Q9UEN4|Q9UEN5|Q9UL55|Q9UL56	Missense_Mutation	SNP	ENST00000352397.5	37	CCDS33658.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.636353	0.29068	.	.	ENSG00000100243	ENST00000361740;ENST00000396303;ENST00000352397;ENST00000407623;ENST00000407332;ENST00000402438;ENST00000438270	D;D;D;D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98;-1.98;-1.98;-1.98	3.41	3.41	0.39046	Riboflavin synthase-like beta-barrel (1);Ferredoxin reductase-type FAD-binding domain (1);Oxidoreductase, FAD-binding domain (1);	0.389002	0.27393	N	0.019576	D	0.93785	0.8013	H	0.97051	3.93	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79108	0.944;0.992	D	0.93820	0.7118	10	0.87932	D	0	-14.6741	8.5369	0.33368	0.0:0.8894:0.0:0.1106	.	145;112	B7Z7L3;P00387	.;NB5R3_HUMAN	F	145;89;112;89;89;89;89	ENSP00000354468:V145F;ENSP00000379597:V89F;ENSP00000338461:V112F;ENSP00000384834:V89F;ENSP00000384457:V89F;ENSP00000385679:V89F;ENSP00000403439:V89F	ENSP00000338461:V112F	V	-	1	0	CYB5R3	41354231	0.998000	0.40836	1.000000	0.80357	0.957000	0.61999	0.464000	0.21988	2.221000	0.72209	0.555000	0.69702	GTT		0.587	CYB5R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320439.1			Missense_Mutation
DNAJB4	11080	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	78481811	78481811	+	Silent	SNP	G	G	A			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr1:78481811G>A	ENST00000370763.5	+	3	1151	c.894G>A	c.(892-894)ctG>ctA	p.L298L	GIPC2_ENST00000476882.1_Intron|DNAJB4_ENST00000487931.1_3'UTR	NM_007034.3	NP_008965.2	Q9UDY4	DNJB4_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 4	298					protein folding (GO:0006457)|response to heat (GO:0009408)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chaperone binding (GO:0051087)|unfolded protein binding (GO:0051082)	p.L298L(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						GATATGGGCTGCCATTTCCAA	0.388																																																	1	Substitution - coding silent(1)	kidney(1)											117.0	117.0	117.0					1																	78481811		2203	4300	6503	SO:0001819	synonymous_variant	11080			U40992	CCDS684.1	1p31.1	2011-09-02			ENSG00000162616	ENSG00000162616		"""Heat shock proteins / DNAJ (HSP40)"""	14886	protein-coding gene	gene with protein product		611327				9546042, 11147971	Standard	NM_007034		Approved	HLJ1	uc001dij.3	Q9UDY4	OTTHUMG00000040905	ENST00000370763.5:c.894G>A	1.37:g.78481811G>A			B2R824|Q13431	Silent	SNP	ENST00000370763.5	37	CCDS684.1																																																																																				0.388	DNAJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098248.3			
EIF2AK4	440275	broad.mit.edu;hgsc.bcm.edu	37	15	40268968	40268968	+	Silent	SNP	C	C	A			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr15:40268968C>A	ENST00000263791.5	+	12	2215	c.2172C>A	c.(2170-2172)ccC>ccA	p.P724P	EIF2AK4_ENST00000382727.2_Silent_p.P724P	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	724	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)	p.P724P(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		CCCGTTTCCCCGCCACCGGCC	0.711																																																	1	Substitution - coding silent(1)	kidney(1)											37.0	41.0	40.0					15																	40268968		1755	3834	5589	SO:0001819	synonymous_variant	440275			AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.2172C>A	15.37:g.40268968C>A			C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Silent	SNP	ENST00000263791.5	37	CCDS42016.1																																																																																				0.711	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1			
FAT2	2196	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	150905349	150905349	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr5:150905349A>G	ENST00000261800.5	-	17	10498	c.10486T>C	c.(10486-10488)Tgg>Cgg	p.W3496R		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3496	Cadherin 31. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.W3496R(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCTGATACCATTCCTGAGCC	0.567																																																	1	Substitution - Missense(1)	kidney(1)											78.0	69.0	72.0					5																	150905349		2203	4300	6503	SO:0001583	missense	2196			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.10486T>C	5.37:g.150905349A>G	ENSP00000261800:p.Trp3496Arg		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	CCDS4317.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.15|10.15	1.270668|1.270668	0.23221|0.23221	.|.	.|.	ENSG00000086570|ENSG00000086570	ENST00000520200|ENST00000261800	.|T	.|0.49432	.|0.78	5.11|5.11	-1.75|-1.75	0.08031|0.08031	.|Cadherin (4);Cadherin-like (1);	.|0.737979	.|0.12541	.|N	.|0.459883	T|T	0.16896|0.16896	0.0406|0.0406	N|N	0.01091|0.01091	-1.02|-1.02	0.30208|0.30208	N|N	0.798013|0.798013	.|B;B	.|0.06786	.|0.001;0.001	.|B;B	.|0.08055	.|0.003;0.002	T|T	0.30149|0.30149	-0.9988|-0.9988	5|10	.|0.16420	.|T	.|0.52	.|.	12.7044|12.7044	0.57051|0.57051	0.2242:0.0:0.7758:0.0|0.2242:0.0:0.7758:0.0	.|.	.|3496;687	.|Q9NYQ8;E9PDJ8	.|FAT2_HUMAN;.	T|R	354|3496	.|ENSP00000261800:W3496R	.|ENSP00000261800:W3496R	M|W	-|-	2|1	0|0	FAT2|FAT2	150885542|150885542	0.846000|0.846000	0.29590|0.29590	0.927000|0.927000	0.36925|0.36925	0.974000|0.974000	0.67602|0.67602	1.322000|1.322000	0.33689|0.33689	-0.194000|-0.194000	0.10399|0.10399	0.455000|0.455000	0.32223|0.32223	ATG|TGG		0.567	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1		NM_001447	
FBXO18	84893	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	5937075	5937075	+	Intron	SNP	G	G	T			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr10:5937075G>T	ENST00000362091.4	+	1	116				FBXO18_ENST00000397269.3_Intron|FBXO18_ENST00000470089.1_Intron|FBXO18_ENST00000379999.5_Missense_Mutation_p.G27W	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18						DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)	p.G27W(1)		NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						ACATTGCGCAGGGCCCCTGGG	0.532																																																	1	Substitution - Missense(1)	kidney(1)											81.0	71.0	74.0					10																	5937075		2203	4300	6503	SO:0001627	intron_variant	84893			AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.1+4766G>T	10.37:g.5937075G>T			Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Missense_Mutation	SNP	ENST00000362091.4	37	CCDS7072.1	.	.	.	.	.	.	.	.	.	.	G	10.72	1.429537	0.25726	.	.	ENSG00000134452	ENST00000379999	.	.	.	3.33	0.273	0.15650	.	.	.	.	.	T	0.20495	0.0493	.	.	.	0.09310	N	0.999999	P	0.44816	0.844	B	0.40165	0.321	T	0.17531	-1.0366	7	0.72032	D	0.01	4.2222	1.8374	0.03143	0.1201:0.2056:0.463:0.2113	.	27	Q8NFZ0-2	.	W	27	.	ENSP00000369335:G27W	G	+	1	0	FBXO18	5977081	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.199000	0.17237	0.061000	0.16311	0.655000	0.94253	GGG		0.532	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1		NM_032807	
FOXRED1	55572	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	126142904	126142905	+	Missense_Mutation	DNP	GT	GT	TA			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	G|T	G|T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr11:126142904_126142905GT>TA	ENST00000263578.5	+	3	421_422	c.347_348GT>TA	c.(346-348)tGT>tTA	p.C116L	FOXRED1_ENST00000532125.1_Missense_Mutation_p.C102L|FOXRED1_ENST00000534011.1_3'UTR|FOXRED1_ENST00000442061.2_5'UTR	NM_017547.3	NP_060017.1	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing 1	116						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)	p.C116F(1)|p.C116>?(1)|p.C116*(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		GGTGGGATTTGTCAGCAGTTCT	0.475																																																	3	Substitution - Missense(1)|Substitution - Nonsense(1)|Complex(1)	kidney(3)																																								SO:0001583	missense	55572				CCDS8471.1	11q24.2	2006-02-03			ENSG00000110074	ENSG00000110074			26927	protein-coding gene	gene with protein product		613622				10497265	Standard	NM_017547		Approved	H17	uc001qdi.3	Q96CU9	OTTHUMG00000165827	Exception_encountered	11.37:g.126142904_126142905delinsTA	ENSP00000263578:p.Cys116Leu		B3KN84|B4DHU2|Q71MG0|Q9BU39|Q9UKY9	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000263578.5	37	CCDS8471.1																																																																																				0.475	FOXRED1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386434.1		NM_017547	
FTO	79068	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	53878083	53878083	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr16:53878083T>G	ENST00000471389.1	+	4	990	c.768T>G	c.(766-768)agT>agG	p.S256R	FTO_ENST00000394647.3_5'UTR	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	256	Fe2OG dioxygenase domain.				adipose tissue development (GO:0060612)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|oxidative demethylation (GO:0070989)|oxidative single-stranded DNA demethylation (GO:0035552)|oxidative single-stranded RNA demethylation (GO:0035553)|regulation of lipid storage (GO:0010883)|regulation of multicellular organism growth (GO:0040014)|regulation of respiratory system process (GO:0044065)|regulation of white fat cell proliferation (GO:0070350)|RNA repair (GO:0042245)|temperature homeostasis (GO:0001659)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|oxidative DNA demethylase activity (GO:0035516)|oxidative RNA demethylase activity (GO:0035515)	p.S256R(1)		endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						AAGAGGAAAGTGAGGATGACT	0.393																																																	1	Substitution - Missense(1)	kidney(1)											130.0	121.0	124.0					16																	53878083		2198	4300	6498	SO:0001583	missense	79068			BC003583	CCDS32448.1	16q12.2	2013-11-15			ENSG00000140718	ENSG00000140718		"""Alkylation repair homologs"""	24678	protein-coding gene	gene with protein product	"""AlkB homolog 9"", ""alpha-ketoglutarate-dependent dioxygenase"""	610966				17434869, 17991826, 22002720	Standard	NM_001080432		Approved	KIAA1752, MGC5149, ALKBH9	uc002ehr.3	Q9C0B1	OTTHUMG00000158780	ENST00000471389.1:c.768T>G	16.37:g.53878083T>G	ENSP00000418823:p.Ser256Arg		A2RUH1|B2RNS0|Q0P676|Q7Z785	Missense_Mutation	SNP	ENST00000471389.1	37	CCDS32448.1	.	.	.	.	.	.	.	.	.	.	T	12.42	1.932093	0.34096	.	.	ENSG00000140718	ENST00000471389	T	0.64991	-0.13	5.81	-2.22	0.06952	Alpha-ketoglutarate-dependent dioxygenase FTO, catalytic domain (1);	0.431187	0.29396	N	0.012279	T	0.42314	0.1197	L	0.36672	1.1	0.22745	N	0.99878	B	0.15141	0.012	B	0.17433	0.018	T	0.16778	-1.0391	10	0.27785	T	0.31	-11.114	5.5907	0.17299	0.1945:0.3961:0.0:0.4093	.	256	Q9C0B1	FTO_HUMAN	R	256	ENSP00000418823:S256R	ENSP00000418823:S256R	S	+	3	2	FTO	52435584	0.002000	0.14202	0.873000	0.34254	0.186000	0.23388	-0.562000	0.05950	-0.352000	0.08237	-0.250000	0.11733	AGT		0.393	FTO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352196.1		NM_001080432	
GBF1	8729	broad.mit.edu;ucsc.edu	37	10	104121490	104121490	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr10:104121490C>G	ENST00000369983.3	+	14	1764	c.1504C>G	c.(1504-1506)Ctt>Gtt	p.L502V		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	502					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.L502V(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CATCAAAAAGCTTATGGAGAT	0.443																																																	1	Substitution - Missense(1)	kidney(1)											95.0	87.0	89.0					10																	104121490		2203	4300	6503	SO:0001583	missense	8729			D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.1504C>G	10.37:g.104121490C>G	ENSP00000359000:p.Leu502Val		Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.959875	0.53400	.	.	ENSG00000107862	ENST00000369983	T	0.77877	-1.13	6.17	6.17	0.99709	.	0.056344	0.64402	D	0.000001	T	0.70798	0.3265	L	0.42744	1.35	0.58432	D	0.999999	P;P;B	0.37955	0.471;0.612;0.17	B;B;B	0.37091	0.241;0.241;0.084	T	0.66444	-0.5922	10	0.17369	T	0.5	-15.0951	15.9457	0.79792	0.0:0.9343:0.0:0.0657	.	502;502;502	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	V	502	ENSP00000359000:L502V	ENSP00000359000:L502V	L	+	1	0	GBF1	104111480	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.665000	0.46791	2.941000	0.99782	0.655000	0.94253	CTT		0.443	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			
GIMAP6	474344	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	150325294	150325294	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr7:150325294T>C	ENST00000328902.5	-	3	608	c.392A>G	c.(391-393)cAa>cGa	p.Q131R	GIMAP6_ENST00000493969.1_Silent_p.T56T	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	131	AIG1-type G.					cytosol (GO:0005829)	GTP binding (GO:0005525)	p.Q131R(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCGGCCCAGTTGTGTCACCAG	0.632																																																	1	Substitution - Missense(1)	kidney(1)											56.0	58.0	57.0					7																	150325294		2203	4300	6503	SO:0001583	missense	474344			AK026343	CCDS34778.1, CCDS59087.1, CCDS75676.1	7q36.1	2014-04-04			ENSG00000133561	ENSG00000133561		"""GTPases, IMAP"""	21918	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 6"""					15474311	Standard	NM_001244072		Approved	FLJ22690, IAN6	uc022apv.1	Q6P9H5	OTTHUMG00000159137	ENST00000328902.5:c.392A>G	7.37:g.150325294T>C	ENSP00000330374:p.Gln131Arg		C9J7B6|D3DWZ4|Q5ZPR6|Q9H612	Missense_Mutation	SNP	ENST00000328902.5	37	CCDS34778.1	.	.	.	.	.	.	.	.	.	.	T	13.14	2.147488	0.37923	.	.	ENSG00000133561	ENST00000328902;ENST00000392862	T	0.32753	1.44	4.07	4.07	0.47477	AIG1 (1);	0.304555	0.31612	N	0.007360	T	0.35799	0.0944	N	0.26092	0.79	0.18873	N	0.999985	D;B	0.61697	0.99;0.279	D;B	0.72982	0.979;0.242	T	0.11155	-1.0599	10	0.21014	T	0.42	.	9.3393	0.38069	0.0:0.0:0.0:1.0	.	131;51	Q6P9H5;Q6P9H5-2	GIMA6_HUMAN;.	R	131;192	ENSP00000330374:Q131R	ENSP00000330374:Q131R	Q	-	2	0	GIMAP6	149956227	0.000000	0.05858	0.911000	0.35937	0.235000	0.25334	0.126000	0.15769	1.725000	0.51514	0.459000	0.35465	CAA		0.632	GIMAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353457.1		NM_024711	
GLTSCR1	29998	broad.mit.edu;hgsc.bcm.edu	37	19	48198183	48198183	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr19:48198183C>A	ENST00000396720.3	+	9	3116	c.2922C>A	c.(2920-2922)aaC>aaA	p.N974K	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	974								p.N974K(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		TCCTCCAGAACAAGGCTGGGG	0.687																																																	1	Substitution - Missense(1)	kidney(1)											18.0	21.0	20.0					19																	48198183		1874	4093	5967	SO:0001583	missense	29998			AF182077	CCDS46134.1	19q13.3	2012-11-29			ENSG00000063169	ENSG00000063169			4332	protein-coding gene	gene with protein product		605690				10708517	Standard	NM_015711		Approved		uc002phh.4	Q9NZM4		ENST00000396720.3:c.2922C>A	19.37:g.48198183C>A	ENSP00000379946:p.Asn974Lys		A8MW01	Missense_Mutation	SNP	ENST00000396720.3	37	CCDS46134.1	.	.	.	.	.	.	.	.	.	.	C	3.254	-0.152615	0.06585	.	.	ENSG00000063169	ENST00000396720	T	0.29142	1.58	2.9	0.682	0.17992	.	.	.	.	.	T	0.15089	0.0364	N	0.19112	0.55	0.30914	N	0.728785	B	0.22983	0.078	B	0.22601	0.04	T	0.35051	-0.9804	9	0.09590	T	0.72	.	6.1967	0.20553	0.0:0.6956:0.0:0.3044	.	974	Q9NZM4	GSCR1_HUMAN	K	974	ENSP00000379946:N974K	ENSP00000379946:N974K	N	+	3	2	GLTSCR1	52889995	0.904000	0.30761	0.893000	0.35052	0.058000	0.15608	1.096000	0.30976	0.522000	0.28464	0.313000	0.20887	AAC		0.687	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465846.1		NM_015711	
GOLGA5	9950	hgsc.bcm.edu;ucsc.edu	37	14	93299661	93299665	+	Frame_Shift_Del	DEL	GATTA	GATTA	-			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	GATTA	GATTA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr14:93299661_93299665delGATTA	ENST00000163416.2	+	10	2170_2174	c.1914_1918delGATTA	c.(1912-1920)tcgattaatfs	p.IN639fs	GOLGA5_ENST00000355976.2_Frame_Shift_Del_p.IN639fs	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5	639					Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		ATGGGTCTTCGATTAATATGTCTGG	0.395			T	RET	papillary thyroid																																			Dom	yes		14	14q	9950	"""golgi autoantigen, golgin subfamily a, 5  (PTC5)"""		E	0																																										SO:0001589	frameshift_variant	9950			AF085199	CCDS9905.1	14q32.12	2012-05-04	2010-02-12		ENSG00000066455	ENSG00000066455			4428	protein-coding gene	gene with protein product	"""golgi integral membrane protein 5"""	606918	"""golgi autoantigen, golgin subfamily a, 5"""			2734021, 9443391, 15004235	Standard	NM_005113		Approved	ret-II, golgin-84, rfg5, GOLIM5	uc001yaz.1	Q8TBA6	OTTHUMG00000171217	ENST00000163416.2:c.1914_1918delGATTA	14.37:g.93299661_93299665delGATTA	ENSP00000163416:p.Ile639fs		C9JRU1|O95287|Q03962|Q2TS49|Q9UQQ7	Frame_Shift_Del	DEL	ENST00000163416.2	37	CCDS9905.1																																																																																				0.395	GOLGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412365.1			
GPR12	2835	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	27333002	27333002	+	Silent	SNP	C	C	T			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr13:27333002C>T	ENST00000381436.2	-	1	1425	c.963G>A	c.(961-963)ccG>ccA	p.P321P	GPR12_ENST00000405846.3_Silent_p.P321P			P47775	GPR12_HUMAN	G protein-coupled receptor 12	321					cellular calcium ion homeostasis (GO:0006874)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)	p.P321P(1)		endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		CGAGACTGGACGGGATGCAGC	0.557																																																	1	Substitution - coding silent(1)	kidney(1)											77.0	78.0	78.0					13																	27333002		2203	4300	6503	SO:0001819	synonymous_variant	2835			U18548	CCDS9319.1	13q12	2014-06-12			ENSG00000132975	ENSG00000132975		"""GPCR / Class A : Orphans"""	4466	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 84"""	600752				8262253, 8530049	Standard	NM_005288		Approved	GPCR21, PPP1R84	uc010aal.3	P47775	OTTHUMG00000016620	ENST00000381436.2:c.963G>A	13.37:g.27333002C>T			Q5T8P3	Silent	SNP	ENST00000381436.2	37	CCDS9319.1																																																																																				0.557	GPR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044257.2			
HAP1	9001	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	39884564	39884564	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr17:39884564C>A	ENST00000310778.5	-	7	1098	c.1089G>T	c.(1087-1089)atG>atT	p.M363I	JUP_ENST00000540235.1_Intron|RN7SL399P_ENST00000471648.2_RNA|HAP1_ENST00000393939.2_Missense_Mutation_p.M363I|HAP1_ENST00000347901.4_Missense_Mutation_p.M363I|HAP1_ENST00000341193.5_Missense_Mutation_p.M371I			P54257	HAP1_HUMAN	huntingtin-associated protein 1	363	Glu-rich.|HAP1 N-terminal.				anterograde axon cargo transport (GO:0008089)|autophagy (GO:0006914)|brain development (GO:0007420)|cell projection organization (GO:0030030)|exocytosis (GO:0006887)|negative regulation of beta-amyloid formation (GO:1902430)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|positive regulation of neurotrophin production (GO:0032901)|positive regulation of nonmotile primary cilium assembly (GO:1902857)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|protein localization (GO:0008104)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of organelle transport along microtubule (GO:1902513)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)|vesicle transport along microtubule (GO:0047496)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synapse (GO:0045202)	brain-derived neurotrophic factor binding (GO:0048403)|ion channel binding (GO:0044325)	p.M363I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			ACAGCTCAGCCATCTGTTGGC	0.657																																																	1	Substitution - Missense(1)	kidney(1)											37.0	33.0	34.0					17																	39884564		2203	4300	6503	SO:0001583	missense	9001			AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805			4812	protein-coding gene	gene with protein product	"""neuroan 1"""	600947		HAP2		7477378, 9668110	Standard	NM_177977		Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000310778.5:c.1089G>T	17.37:g.39884564C>A	ENSP00000309392:p.Met363Ile		A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Missense_Mutation	SNP	ENST00000310778.5	37		.	.	.	.	.	.	.	.	.	.	C	11.32	1.603790	0.28534	.	.	ENSG00000173805	ENST00000393939;ENST00000310778;ENST00000347901;ENST00000341193	T;T;T;T	0.13538	2.58;2.58;2.58;2.58	4.14	3.08	0.35506	.	0.000000	0.51477	D	0.000100	T	0.10423	0.0255	N	0.22421	0.69	0.27911	N	0.938601	B;B;B;B	0.32653	0.379;0.379;0.095;0.117	B;B;B;B	0.43508	0.314;0.314;0.297;0.422	T	0.27773	-1.0064	10	0.13108	T	0.6	-21.367	6.1628	0.20373	0.0:0.8589:0.0:0.1411	.	363;371;363;363	P54257-3;P54257-4;P54257-2;P54257	.;.;.;HAP1_HUMAN	I	363;363;363;371	ENSP00000377513:M363I;ENSP00000309392:M363I;ENSP00000334002:M363I;ENSP00000343170:M371I	ENSP00000309392:M363I	M	-	3	0	HAP1	37138090	0.998000	0.40836	1.000000	0.80357	0.930000	0.56654	0.478000	0.22212	2.183000	0.69458	0.549000	0.68633	ATG		0.657	HAP1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000389619.1		NM_003949	
KLHL20	27252	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	173703125	173703125	+	Silent	SNP	A	A	T			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr1:173703125A>T	ENST00000209884.4	+	3	433	c.297A>T	c.(295-297)ggA>ggT	p.G99G	KLHL20_ENST00000493170.1_3'UTR|KLHL20_ENST00000546011.1_Intron	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	99	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cytoskeleton organization (GO:0007010)|Golgi to endosome transport (GO:0006895)|negative regulation of apoptotic process (GO:0043066)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K33-linked ubiquitination (GO:1990390)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|response to interferon-alpha (GO:0035455)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|PML body (GO:0016605)|trans-Golgi network (GO:0005802)	interferon-gamma binding (GO:0019964)|ubiquitin-protein transferase activity (GO:0004842)	p.G99G(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						TGTTTACAGGAGAATTGGCAG	0.473																																					GBM(159;862 2695 6559 23041)												1	Substitution - coding silent(1)	kidney(1)											132.0	119.0	123.0					1																	173703125		2203	4300	6503	SO:0001819	synonymous_variant	27252			AB026190	CCDS1310.1	1q25.1	2013-01-30	2013-01-30		ENSG00000076321	ENSG00000076321		"""Kelch-like"", ""BTB/POZ domain containing"""	25056	protein-coding gene	gene with protein product			"""kelch-like 20 (Drosophila)"""			14668487, 20389280	Standard	NM_014458		Approved	KLEIP, KHLHX	uc001gjc.3	Q9Y2M5	OTTHUMG00000040548	ENST00000209884.4:c.297A>T	1.37:g.173703125A>T			B3KMA0|B4DUR0|Q5TZF2|Q5ZF45|Q9H457	Silent	SNP	ENST00000209884.4	37	CCDS1310.1																																																																																				0.473	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097582.1		NM_014458	
HMCN1	83872	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	186113746	186113746	+	Missense_Mutation	SNP	G	G	T	rs149329415		TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr1:186113746G>T	ENST00000271588.4	+	91	14406	c.14177G>T	c.(14176-14178)gGc>gTc	p.G4726V	HMCN1_ENST00000367492.2_Missense_Mutation_p.G4726V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4726	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.G4726V(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGAACAAGGGGCTGCTCCGAC	0.542																																																	1	Substitution - Missense(1)	kidney(1)											148.0	139.0	142.0					1																	186113746		2203	4300	6503	SO:0001583	missense	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.14177G>T	1.37:g.186113746G>T	ENSP00000271588:p.Gly4726Val		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	10.49	1.364815	0.24684	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.50001	0.76;0.76	5.82	5.82	0.92795	.	0.460312	0.26535	N	0.023821	T	0.19967	0.0480	N	0.02158	-0.66	0.30621	N	0.758472	B	0.02656	0.0	B	0.01281	0.0	T	0.16188	-1.0411	10	0.19590	T	0.45	.	7.9584	0.30057	0.7951:0.1363:0.0686:0.0	.	4726	Q96RW7	HMCN1_HUMAN	V	4726	ENSP00000271588:G4726V;ENSP00000356462:G4726V	ENSP00000271588:G4726V	G	+	2	0	HMCN1	184380369	0.818000	0.29161	1.000000	0.80357	0.696000	0.40369	1.354000	0.34056	1.040000	0.40099	-0.269000	0.10298	GGC		0.542	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1		NM_031935	
KLHL4	56062	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	86890699	86890699	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chrX:86890699G>A	ENST00000373119.4	+	9	1994	c.1849G>A	c.(1849-1851)Gga>Aga	p.G617R	KLHL4_ENST00000373114.4_Missense_Mutation_p.G617R	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	617						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.G617R(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						CACATACAATGGATTCTTATA	0.458																																																	2	Substitution - Missense(2)	kidney(2)											116.0	99.0	105.0					X																	86890699		2203	4300	6503	SO:0001583	missense	56062			AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.1849G>A	X.37:g.86890699G>A	ENSP00000362211:p.Gly617Arg		B2RTW2|Q9Y3J5	Missense_Mutation	SNP	ENST00000373119.4	37	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.192229	0.58017	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	D;D	0.82344	-1.6;-1.6	4.23	4.23	0.50019	Galactose oxidase, beta-propeller (1);	0.188534	0.42053	D	0.000776	D	0.90072	0.6899	M	0.83852	2.665	0.51767	D	0.99993	P;P	0.48998	0.871;0.918	P;P	0.58928	0.848;0.771	D	0.91923	0.5549	10	0.87932	D	0	.	15.0663	0.71999	0.0:0.0:1.0:0.0	.	617;617	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	R	617	ENSP00000362211:G617R;ENSP00000362206:G617R	ENSP00000362206:G617R	G	+	1	0	KLHL4	86777355	1.000000	0.71417	0.998000	0.56505	0.521000	0.34408	5.601000	0.67606	2.086000	0.62901	0.513000	0.50165	GGA		0.458	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			
KRT75	9119	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	52827998	52827998	+	Missense_Mutation	SNP	G	G	A	rs148964521		TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr12:52827998G>A	ENST00000252245.5	-	1	311	c.91C>T	c.(91-93)Cgc>Tgc	p.R31C		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	31	Head.				hematopoietic progenitor cell differentiation (GO:0002244)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.R31C(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		GAGCTGAAGCGGGAGCGGCCA	0.662																																																	1	Substitution - Missense(1)	kidney(1)						G	CYS/ARG	1,4395		0,1,2197	23.0	28.0	27.0		91	4.8	1.0	12	dbSNP_134	27	0,8576		0,0,4288	no	missense	KRT75	NM_004693.2	180	0,1,6485	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	31/552	52827998	1,12971	2198	4288	6486	SO:0001583	missense	9119			Y19212	CCDS8827.1	12q13.13	2013-06-25			ENSG00000170454	ENSG00000170454		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24431	protein-coding gene	gene with protein product		609025				9856802, 10692104, 16831889	Standard	NM_004693		Approved	K6HF	uc001saj.2	O95678	OTTHUMG00000169592	ENST00000252245.5:c.91C>T	12.37:g.52827998G>A	ENSP00000252245:p.Arg31Cys		B4DQU4|Q9NSA9	Missense_Mutation	SNP	ENST00000252245.5	37	CCDS8827.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.044173	0.36085	2.27E-4	0.0	ENSG00000170454	ENST00000252245	T	0.19394	2.15	5.74	4.82	0.62117	.	0.117425	0.35805	N	0.002975	T	0.14570	0.0352	L	0.28115	0.83	0.41164	D	0.986118	B	0.14805	0.011	B	0.06405	0.002	T	0.07597	-1.0764	10	0.16420	T	0.52	.	12.9046	0.58145	0.0:0.0:0.5546:0.4454	.	31	O95678	K2C75_HUMAN	C	31	ENSP00000252245:R31C	ENSP00000252245:R31C	R	-	1	0	KRT75	51114265	1.000000	0.71417	0.996000	0.52242	0.739000	0.42172	0.854000	0.27791	1.357000	0.45904	0.655000	0.94253	CGC		0.662	KRT75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404968.1		NM_004693	
LCAT	3931	hgsc.bcm.edu;ucsc.edu	37	16	67974104	67974117	+	Frame_Shift_Del	DEL	GCCCACGCCGTAAA	GCCCACGCCGTAAA	-	rs112299487|rs375740669|rs138943456		TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	GCCCACGCCGTAAA	GCCCACGCCGTAAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr16:67974104_67974117delGCCCACGCCGTAAA	ENST00000264005.5	-	6	1042_1055	c.1013_1026delTTTACGGCGTGGGC	c.(1012-1026)ctttacggcgtgggcfs	p.LYGVG338fs		NM_000229.1	NP_000220.1	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase	338			L -> F (in FED; results in reduced protein secretion and activity). {ECO:0000269|PubMed:21901787}.		cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|high-density lipoprotein particle remodeling (GO:0034375)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein metabolic process (GO:0042157)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|regulation of high-density lipoprotein particle assembly (GO:0090107)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)	apolipoprotein A-I binding (GO:0034186)|phosphatidylcholine-sterol O-acyltransferase activity (GO:0004607)			cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		GCGTGGGCAGGCCCACGCCGTAAAGACAGTATAC	0.598																																																	0																																										SO:0001589	frameshift_variant	3931				CCDS10854.1	16q22.1	2012-10-02			ENSG00000213398	ENSG00000213398	2.3.1.43		6522	protein-coding gene	gene with protein product		606967					Standard	NM_000229		Approved		uc002euy.1	P04180	OTTHUMG00000137551	ENST00000264005.5:c.1013_1026delTTTACGGCGTGGGC	16.37:g.67974104_67974117delGCCCACGCCGTAAA	ENSP00000264005:p.Leu338fs		Q53XQ3	Frame_Shift_Del	DEL	ENST00000264005.5	37	CCDS10854.1																																																																																				0.598	LCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268885.3			
MAK	4117	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	10802230	10802230	+	Silent	SNP	A	A	T			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr6:10802230A>T	ENST00000313243.2	-	8	1108	c.726T>A	c.(724-726)gtT>gtA	p.V242V	MAK_ENST00000536370.1_Silent_p.V242V|RP11-637O19.3_ENST00000480294.1_Intron|MAK_ENST00000538030.1_Silent_p.V242V|SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000474039.1_Silent_p.V242V|MAK_ENST00000354489.2_Silent_p.V242V			P20794	MAK_HUMAN	male germ cell-associated kinase	242	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|photoreceptor cell maintenance (GO:0045494)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|transcription coactivator activity (GO:0003713)	p.V242V(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				AGTTTATAGGAACACACTGGG	0.443																																																	1	Substitution - coding silent(1)	kidney(1)											90.0	92.0	91.0					6																	10802230		2203	4300	6503	SO:0001819	synonymous_variant	4117				CCDS4516.1, CCDS75398.1, CCDS75399.1	6p24.2	2014-01-28			ENSG00000111837	ENSG00000111837			6816	protein-coding gene	gene with protein product		154235				16951154	Standard	NM_005906		Approved	dJ417M14.2, RP62	uc021ylk.1	P20794	OTTHUMG00000014247	ENST00000313243.2:c.726T>A	6.37:g.10802230A>T			F1T0K6|G1FL29|Q547D0|Q9NUH7	Silent	SNP	ENST00000313243.2	37	CCDS4516.1																																																																																				0.443	MAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039841.1		NM_005906	
MAP3K6	9064	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	27690800	27690800	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr1:27690800C>A	ENST00000493901.1	-	5	829	c.590G>T	c.(589-591)gGc>gTc	p.G197V	MAP3K6_ENST00000374040.3_Missense_Mutation_p.G189V|MAP3K6_ENST00000357582.2_Missense_Mutation_p.G197V	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	197					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)	p.G189V(1)		breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		ATCAGCCAGGCCCCGCAGAAG	0.672																																																	1	Substitution - Missense(1)	kidney(1)											71.0	73.0	72.0					1																	27690800		2203	4300	6503	SO:0001583	missense	9064			AF100318	CCDS299.1, CCDS72738.1	1p36.11	2011-06-09			ENSG00000142733	ENSG00000142733		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6858	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 2"""	604468				9875215	Standard	XM_005246029		Approved	MAPKKK6, ASK2, MEKK6	uc001bny.1	O95382	OTTHUMG00000004631	ENST00000493901.1:c.590G>T	1.37:g.27690800C>A	ENSP00000419591:p.Gly197Val		A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Missense_Mutation	SNP	ENST00000493901.1	37	CCDS299.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.033212	0.75504	.	.	ENSG00000142733	ENST00000374040;ENST00000493901;ENST00000357582	T;T;T	0.09445	2.98;2.98;2.98	5.82	5.82	0.92795	.	.	.	.	.	T	0.25082	0.0609	L	0.46157	1.445	0.58432	D	0.999999	D;D	0.64830	0.993;0.994	P;D	0.63703	0.865;0.917	T	0.00244	-1.1883	9	0.26408	T	0.33	.	17.8623	0.88784	0.0:1.0:0.0:0.0	.	189;197	O95382-3;O95382	.;M3K6_HUMAN	V	189;197;197	ENSP00000363152:G189V;ENSP00000419591:G197V;ENSP00000350195:G197V	ENSP00000350195:G197V	G	-	2	0	MAP3K6	27563387	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.172000	0.65003	2.761000	0.94854	0.655000	0.94253	GGC		0.672	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013469.2		NM_004672	
MGAT5	4249	broad.mit.edu;hgsc.bcm.edu	37	2	135076310	135076310	+	Splice_Site	SNP	G	G	C			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr2:135076310G>C	ENST00000409645.1	+	5	825	c.573G>C	c.(571-573)gaG>gaC	p.E191D	MGAT5_ENST00000281923.2_Splice_Site_p.E191D			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	191					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)	p.E191D(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		ACCTCAGTGAGGTGAGTAGCT	0.448																																																	1	Substitution - Missense(1)	kidney(1)											130.0	126.0	128.0					2																	135076310		2203	4300	6503	SO:0001630	splice_region_variant	4249			D17716	CCDS2171.1	2q21	2013-02-25			ENSG00000152127	ENSG00000152127	2.4.1.155	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7049	protein-coding gene	gene with protein product		601774				8292036	Standard	NM_002410		Approved	GNT-V	uc002ttw.4	Q09328	OTTHUMG00000131681	ENST00000409645.1:c.573+1G>C	2.37:g.135076310G>C			D3DP70	Missense_Mutation	SNP	ENST00000409645.1	37	CCDS2171.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.171553	0.78452	.	.	ENSG00000152127	ENST00000409645;ENST00000281923	.	.	.	5.54	5.54	0.83059	.	0.049932	0.85682	D	0.000000	T	0.79370	0.4434	M	0.76170	2.325	0.80722	D	1	D	0.56035	0.974	D	0.70487	0.969	T	0.81013	-0.1125	9	0.72032	D	0.01	-29.0599	17.6539	0.88172	0.0:0.0:1.0:0.0	.	191	Q09328	MGT5A_HUMAN	D	191	.	ENSP00000281923:E191D	E	+	3	2	MGAT5	134792780	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.444000	0.97578	2.609000	0.88269	0.655000	0.94253	GAG		0.448	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254584.3		NM_002410	Missense_Mutation
MSL3	10943	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	11781972	11781973	+	Frame_Shift_Ins	INS	-	-	ATCC			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chrX:11781972_11781973insATCC	ENST00000312196.4	+	8	928_929	c.823_824insATCC	c.(823-825)tatfs	p.-276fs	MSL3_ENST00000398527.2_Frame_Shift_Ins_p.-264fs|MSL3_ENST00000337339.2_Frame_Shift_Ins_p.-276fs|MSL3_ENST00000361672.2_Frame_Shift_Ins_p.-127fs|MSL3_ENST00000380693.3_Frame_Shift_Ins_p.-110fs	NM_078629.3	NP_523353.2	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)						chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|multicellular organismal development (GO:0007275)|transcription from RNA polymerase II promoter (GO:0006366)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						GGTTTTACTCTATCCATATGAA	0.366																																																	0																																										SO:0001589	frameshift_variant	10943			AF117065	CCDS14147.1, CCDS14148.1, CCDS14149.1, CCDS55369.1, CCDS65213.1	Xp22.3	2008-10-29	2008-10-29	2008-10-29	ENSG00000005302	ENSG00000005302			7370	protein-coding gene	gene with protein product		300609	"""male-specific lethal-3 (Drosophila)-like 1"", ""male-specific lethal 3-like 1 (Drosophila)"""	MSL3L1		10395802, 10908644	Standard	NM_078628		Approved		uc004cuw.3	Q8N5Y2	OTTHUMG00000021132	ENST00000312196.4:c.824_827dupATCC	X.37:g.11781973_11781976dupATCC	ENSP00000312244:p.Pro276fs		A6NCU2|A6NHW8|A8K165|B4DUV8|B7Z227|Q9UG70|Q9Y5Z8	Frame_Shift_Ins	INS	ENST00000312196.4	37	CCDS14147.1																																																																																				0.366	MSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055757.1		NM_006800	
MYH4	4622	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	10369589	10369589	+	Splice_Site	SNP	C	C	T			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr17:10369589C>T	ENST00000255381.2	-	4	459		c.e4+1		RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle						actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.?(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AGGGTGCTCACGTAGATCATC	0.433																																																	1	Unknown(1)	kidney(1)											246.0	200.0	215.0					17																	10369589		2203	4300	6503	SO:0001630	splice_region_variant	4622				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.348+1G>A	17.37:g.10369589C>T				Splice_Site	SNP	ENST00000255381.2	37	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.613110	0.66672	.	.	ENSG00000141048;ENSG00000125414	ENST00000255381;ENST00000532288	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4991	0.90875	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYH2;MYH4	10310314	1.000000	0.71417	1.000000	0.80357	0.563000	0.35712	7.547000	0.82146	2.666000	0.90696	0.650000	0.86243	.		0.433	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1		NM_017533	Intron
PCDHA9	9752	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140229361	140229361	+	Silent	SNP	G	G	A			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr5:140229361G>A	ENST00000532602.1	+	1	2314	c.1281G>A	c.(1279-1281)gcG>gcA	p.A427A	PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000378122.3_Silent_p.A427A|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	427	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A427A(2)		breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTTACCGCGCGGGACGGGG	0.627																																					Melanoma(55;1800 1972 14909)												2	Substitution - coding silent(2)	kidney(2)											83.0	81.0	82.0					5																	140229361		2196	4271	6467	SO:0001819	synonymous_variant	9752			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1281G>A	5.37:g.140229361G>A			O15053|Q2M3S5	Silent	SNP	ENST00000532602.1	37	CCDS54920.1																																																																																				0.627	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2		NM_031857	
PLEKHG4	25894	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	67318935	67318935	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr16:67318935C>T	ENST00000360461.5	+	12	4547	c.2012C>T	c.(2011-2013)cCc>cTc	p.P671L	PLEKHG4_ENST00000427155.2_Missense_Mutation_p.P671L|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.P590L|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.P671L	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	671							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P671L(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		GCCCACCCTCCCCTGAGGAAG	0.627																																																	1	Substitution - Missense(1)	kidney(1)											29.0	30.0	30.0					16																	67318935		2197	4299	6496	SO:0001583	missense	25894			AK024475	CCDS32466.1, CCDS45512.1	16q22.1	2013-01-11						"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24501	protein-coding gene	gene with protein product	"""puratrophin-1"""	609526	"""spinocerebellar ataxia 4"""	SCA4		16491300, 16001362	Standard	NM_015432		Approved	DKFZP434I216, ARHGEF44	uc010cef.3	Q58EX7		ENST00000360461.5:c.2012C>T	16.37:g.67318935C>T	ENSP00000353646:p.Pro671Leu		Q4G0J8|Q4H485|Q56A69|Q9H7K4|Q9UFW0	Missense_Mutation	SNP	ENST00000360461.5	37	CCDS32466.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.098787	0.56183	.	.	ENSG00000196155	ENST00000360461;ENST00000427155;ENST00000379344;ENST00000450733	T;T;T;T	0.09073	3.02;3.02;3.02;3.04	4.3	4.3	0.51218	.	.	.	.	.	T	0.17066	0.0410	L	0.32530	0.975	0.47949	D	0.999556	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.06899	-1.0801	9	0.23302	T	0.38	.	13.849	0.63485	0.0:1.0:0.0:0.0	.	590;671	Q58EX7-2;Q58EX7	.;PKHG4_HUMAN	L	671;671;671;590	ENSP00000353646:P671L;ENSP00000401118:P671L;ENSP00000368649:P671L;ENSP00000398030:P590L	ENSP00000353646:P671L	P	+	2	0	PLEKHG4	65876436	0.032000	0.19561	1.000000	0.80357	0.889000	0.51656	1.434000	0.34958	2.104000	0.64026	0.655000	0.94253	CCC		0.627	PLEKHG4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421395.2		NM_015432	
PPP2R1B	5519	hgsc.bcm.edu;ucsc.edu	37	11	111624250	111624251	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	TT	TT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr11:111624250_111624251delTT	ENST00000527614.1	-	9	1145_1146	c.1080_1081delAA	c.(1078-1083)gtaattfs	p.I361fs	PPP2R1B_ENST00000341980.6_Intron|PPP2R1B_ENST00000311129.5_Frame_Shift_Del_p.I361fs|PPP2R1B_ENST00000393055.2_Frame_Shift_Del_p.I234fs|PPP2R1B_ENST00000426998.2_Frame_Shift_Del_p.I297fs|PPP2R1B_ENST00000427203.2_Frame_Shift_Del_p.I200fs	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	361					apoptotic process involved in morphogenesis (GO:0060561)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)	extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		AATCCCATAATTACAGAAGCTA	0.342																																																	0																																										SO:0001589	frameshift_variant	5519			AF087438	CCDS8348.1, CCDS8349.1, CCDS53706.1, CCDS53707.1, CCDS53708.1	11q23.1	2010-06-18	2010-04-14		ENSG00000137713	ENSG00000137713	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9303	protein-coding gene	gene with protein product	"""PP2A-A-beta"", ""protein phosphatase 2A, regulatory subunit A, beta isoform"""	603113	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoform"""			2159327, 9795170	Standard	NM_181699		Approved	PR65B, PP2A-Abeta	uc001plw.1	P30154	OTTHUMG00000166741	ENST00000527614.1:c.1080_1081delAA	11.37:g.111624250_111624251delTT	ENSP00000437193:p.Ile361fs		A8MY67|B0YJ69|B4DGQ6|B4DK91|B4DWW5|F8W8G1|O75620|Q8NHV8	Frame_Shift_Del	DEL	ENST00000527614.1	37	CCDS8349.1																																																																																				0.342	PPP2R1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391298.1		NM_002716	
PQLC3	130814	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	11312070	11312070	+	Missense_Mutation	SNP	G	G	A	rs546479821		TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr2:11312070G>A	ENST00000295083.3	+	5	549	c.374G>A	c.(373-375)aGc>aAc	p.S125N	PQLC3_ENST00000402361.1_Intron|PQLC3_ENST00000441908.2_Missense_Mutation_p.S125N|PQLC3_ENST00000476787.1_3'UTR	NM_152391.3	NP_689604.1	Q8N755	PQLC3_HUMAN	PQ loop repeat containing 3	125						integral component of membrane (GO:0016021)		p.S125N(1)		kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132)		ACTTTCATCAGCGCGGCCAGT	0.483																																																	1	Substitution - Missense(1)	kidney(1)											97.0	95.0	96.0					2																	11312070		2203	4300	6503	SO:0001583	missense	130814			BC027625	CCDS1679.1, CCDS62856.1, CCDS62857.1	2p25.1	2004-02-05	2005-07-19	2005-07-19	ENSG00000162976	ENSG00000162976			28503	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 22"""	C2orf22		12477932	Standard	NM_001282711		Approved	MGC33602	uc002rbc.3	Q8N755	OTTHUMG00000119055	ENST00000295083.3:c.374G>A	2.37:g.11312070G>A	ENSP00000295083:p.Ser125Asn		B2R8K1|B4DWA4	Missense_Mutation	SNP	ENST00000295083.3	37	CCDS1679.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.129025	0.77549	.	.	ENSG00000162976	ENST00000445402;ENST00000295083;ENST00000441908	D;T;D	0.87650	-2.28;-0.64;-2.28	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.93621	0.7963	M	0.82517	2.595	0.58432	D	0.999993	D;D	0.89917	1.0;0.999	D;D	0.81914	0.972;0.995	D	0.91614	0.5305	10	0.27785	T	0.31	-19.7704	18.1662	0.89727	0.0:0.0:1.0:0.0	.	125;125	B4DWA4;Q8N755	.;PQLC3_HUMAN	N	148;125;125	ENSP00000410430:S148N;ENSP00000295083:S125N;ENSP00000406148:S125N	ENSP00000295083:S125N	S	+	2	0	PQLC3	11229521	1.000000	0.71417	0.966000	0.40874	0.747000	0.42532	7.749000	0.85096	2.824000	0.97209	0.655000	0.94253	AGC		0.483	PQLC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239266.4		NM_152391	
PSG8	440533	broad.mit.edu	37	19	43348720	43348720	+	Intron	SNP	C	C	T			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr19:43348720C>T	ENST00000401467.2	-	1	136				PSG10P_ENST00000597171.1_RNA			Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8							extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TTGTCCTGAACGGTAATAGGT	0.468																																																	0																																										SO:0001627	intron_variant	5669			M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000401467.2:c.64+10987G>A	19.37:g.43348720C>T			A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000401467.2	37																																																																																					0.468	PSG8-009	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000464525.1			
PRR12	57479	hgsc.bcm.edu	37	19	50099021	50099021	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr19:50099021G>A	ENST00000418929.2	+	4	1441	c.1429G>A	c.(1429-1431)Ggg>Agg	p.G477R		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0	Pro-rich.						DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CAGCTACTCAGGGGGCCCCCC	0.692																																																	0													9.0	10.0	10.0					19																	50099021		1602	3746	5348	SO:0001583	missense	57479			AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.1429G>A	19.37:g.50099021G>A	ENSP00000394510:p.Gly477Arg		E9PB06|Q8N4J6	Missense_Mutation	SNP	ENST00000418929.2	37	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	G	7.049	0.564070	0.13498	.	.	ENSG00000126464	ENST00000418929	.	.	.	3.56	3.56	0.40772	.	.	.	.	.	T	0.26085	0.0636	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.08827	-1.0703	7	0.25751	T	0.34	.	8.4897	0.33093	0.1133:0.0:0.8867:0.0	.	477	Q9ULL5-3	.	R	477	.	ENSP00000394510:G477R	G	+	1	0	PRR12	54790833	0.784000	0.28713	0.935000	0.37517	0.836000	0.47400	2.186000	0.42593	2.007000	0.58848	0.455000	0.32223	GGG		0.692	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1		NM_020719	
PSMC5	5705	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	61908394	61908394	+	Splice_Site	SNP	A	A	G			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr17:61908394A>G	ENST00000310144.6	+	8	987		c.e8-1		PSMC5_ENST00000581882.1_Splice_Site|FTSJ3_ENST00000580295.1_5'Flank|PSMC5_ENST00000580864.1_Splice_Site|PSMC5_ENST00000375812.4_Splice_Site	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|nuclear proteasome complex (GO:0031595)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|thyrotropin-releasing hormone receptor binding (GO:0031531)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)	p.?(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						GCCTCCACACAGGGGCAAGAA	0.532																																																	1	Unknown(1)	kidney(1)											66.0	65.0	65.0					17																	61908394		2203	4300	6503	SO:0001630	splice_region_variant	5705			L38810	CCDS11645.1, CCDS56043.1	17q23.3	2010-04-21			ENSG00000087191	ENSG00000087191		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9552	protein-coding gene	gene with protein product		601681				9473509, 9048938	Standard	NM_002805		Approved	SUG1, p45/SUG, TBP10, p45, S8, TRIP1, SUG-1	uc002jcb.3	P62195		ENST00000310144.6:c.680-1A>G	17.37:g.61908394A>G			A8K3Z3|A8K763|O35051|O43208|P47210|P52915|P52916	Splice_Site	SNP	ENST00000310144.6	37	CCDS11645.1	.	.	.	.	.	.	.	.	.	.	A	18.12	3.553837	0.65425	.	.	ENSG00000087191	ENST00000310144;ENST00000375812	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8576	0.63537	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PSMC5	59262126	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.950000	0.93019	2.367000	0.80283	0.528000	0.53228	.		0.532	PSMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444404.1		NM_002805	Intron
PTEN	5728	broad.mit.edu;hgsc.bcm.edu	37	10	89720677	89720677	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	T	T	T	G	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr10:89720677T>G	ENST00000371953.3	+	8	2185	c.828T>G	c.(826-828)aaT>aaG	p.N276K	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	276	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.N276K(1)|p.W274_F341del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTTGGGTAAATACATTCTTCA	0.284		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	51	Whole gene deletion(37)|Deletion - Frameshift(9)|Deletion - In frame(2)|Unknown(2)|Substitution - Missense(1)	prostate(16)|central_nervous_system(12)|skin(6)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)|kidney(1)											29.0	31.0	30.0					10																	89720677		2192	4281	6473	SO:0001583	missense	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.828T>G	10.37:g.89720677T>G	ENSP00000361021:p.Asn276Lys		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.938629	0.73557	.	.	ENSG00000171862	ENST00000371953	D	0.91792	-2.91	5.13	0.106	0.14540	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.95105	0.8414	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92807	0.6261	9	.	.	.	-7.7972	9.0739	0.36508	0.0:0.3748:0.0:0.6252	.	276	P60484	PTEN_HUMAN	K	276	ENSP00000361021:N276K	.	N	+	3	2	PTEN	89710657	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	1.954000	0.40362	-0.228000	0.09869	0.482000	0.46254	AAT		0.284	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1		NM_000314	
PYCARD	29108	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	31213020	31213020	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr16:31213020C>G	ENST00000247470.9	-	3	775	c.474G>C	c.(472-474)aaG>aaC	p.K158N	C16orf98_ENST00000561916.2_5'Flank|PYCARD_ENST00000350605.4_Missense_Mutation_p.K139N	NM_013258.4	NP_037390.2	Q9ULZ3	ASC_HUMAN	PYD and CARD domain containing	158	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|defense response to Gram-negative bacterium (GO:0050829)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|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)|macropinocytosis (GO:0044351)|myeloid dendritic cell activation (GO:0001773)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002588)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phagocytosis (GO:0050766)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell migration (GO:2000406)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of protein stability (GO:0031647)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|IkappaB kinase complex (GO:0008385)|mitochondrion (GO:0005739)|NLRP1 inflammasome complex (GO:0072558)|NLRP3 inflammasome complex (GO:0072559)|nucleolus (GO:0005730)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|protein homodimerization activity (GO:0042803)|Pyrin domain binding (GO:0032090)	p.K158N(1)		NS(1)|kidney(1)	2						GCTTCCGCATCTTGCTTGGGT	0.602																																																	1	Substitution - Missense(1)	kidney(1)											128.0	105.0	113.0					16																	31213020		2197	4300	6497	SO:0001583	missense	29108			AB023416	CCDS10708.1, CCDS10709.1	16p11.2	2013-01-22			ENSG00000103490	ENSG00000103490			16608	protein-coding gene	gene with protein product		606838					Standard	NM_013258		Approved	TMS-1, CARD5, ASC	uc010cak.3	Q9ULZ3	OTTHUMG00000176753	ENST00000247470.9:c.474G>C	16.37:g.31213020C>G	ENSP00000247470:p.Lys158Asn		Q96D12|Q9BSZ5|Q9HBD0|Q9NXJ8	Missense_Mutation	SNP	ENST00000247470.9	37	CCDS10708.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.035785	0.54896	.	.	ENSG00000103490	ENST00000350605;ENST00000247470;ENST00000355986	T;T	0.27256	1.68;1.68	5.05	1.98	0.26296	DEATH-like (2);Caspase Recruitment (2);	0.241087	0.29355	N	0.012381	T	0.48059	0.1479	M	0.79693	2.465	0.31797	N	0.628862	D;D	0.76494	0.999;0.998	D;D	0.79784	0.993;0.988	T	0.57300	-0.7835	10	0.72032	D	0.01	.	9.3172	0.37941	0.0:0.7404:0.0:0.2596	.	158;139	Q9ULZ3;Q9ULZ3-2	ASC_HUMAN;.	N	139;158;98	ENSP00000340441:K139N;ENSP00000247470:K158N	ENSP00000247470:K158N	K	-	3	2	PYCARD	31120521	0.843000	0.29541	0.879000	0.34478	0.332000	0.28634	0.254000	0.18314	0.643000	0.30638	0.655000	0.94253	AAG		0.602	PYCARD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255539.13		NM_013258	
RASA1	5921	hgsc.bcm.edu;ucsc.edu	37	5	86627234	86627238	+	Frame_Shift_Del	DEL	TTATC	TTATC	-	rs377014568	byFrequency	TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	TTATC	TTATC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr5:86627234_86627238delTTATC	ENST00000274376.6	+	2	1173_1177	c.609_613delTTATC	c.(607-615)agttatcttfs	p.YL204fs	RASA1_ENST00000512763.1_Frame_Shift_Del_p.YL37fs|RASA1_ENST00000506290.1_Frame_Shift_Del_p.YL38fs|RASA1_ENST00000456692.2_Frame_Shift_Del_p.YL27fs	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	204	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		AGTCTGGCAGTTATCTTATAAGAGA	0.415																																																	0			GRCh37	CD084202	RASA1	D																																				SO:0001589	frameshift_variant	5921				CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.609_613delTTATC	5.37:g.86627234_86627238delTTATC	ENSP00000274376:p.Tyr204fs		B2R6W3|Q9UDI1	Frame_Shift_Del	DEL	ENST00000274376.6	37	CCDS34200.1																																																																																				0.415	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1		NM_002890	
SCARF1	8578	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	1549792	1549792	+	5'Flank	SNP	A	A	T	rs556577180		TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr17:1549792A>T	ENST00000263071.4	-	0	0				SCARF1_ENST00000574545.1_5'Flank|SCARF1_ENST00000571272.1_5'Flank|SCARF1_ENST00000348987.3_5'Flank|RILP_ENST00000301336.6_Missense_Mutation_p.C384S	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1						cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)	p.C384S(1)		cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AGGGCAGAACAGGGCGGATCA	0.602													A|||	1	0.000199681	0.0	0.0	5008	,	,		18208	0.0		0.0	False		,,,				2504	0.001																1	Substitution - Missense(1)	kidney(1)											126.0	113.0	118.0					17																	1549792		2203	4300	6503	SO:0001631	upstream_gene_variant	83547			D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"""scavenger receptor expressed by endothelial cells"", ""acetyl LDL receptor"""	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555		17.37:g.1549792A>T	Exception_encountered		A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Missense_Mutation	SNP	ENST00000263071.4	37	CCDS11007.1	.	.	.	.	.	.	.	.	.	.	A	12.77	2.036546	0.35893	.	.	ENSG00000167705	ENST00000301336	T	0.31769	1.48	4.1	0.491	0.16867	.	3.145510	0.00832	N	0.001675	T	0.22437	0.0541	L	0.36672	1.1	0.09310	N	1	P	0.47409	0.895	B	0.38056	0.264	T	0.24657	-1.0154	10	0.14656	T	0.56	-3.1472	7.3117	0.26477	0.6028:0.0:0.3972:0.0	.	384	Q96NA2	RILP_HUMAN	S	384	ENSP00000301336:C384S	ENSP00000301336:C384S	C	-	1	0	RILP	1496542	0.009000	0.17119	0.001000	0.08648	0.051000	0.14879	1.057000	0.30492	-0.037000	0.13646	0.459000	0.35465	TGT		0.602	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207081.4		NM_003693	
RPL30	6156	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	99054891	99054891	+	Missense_Mutation	SNP	G	G	C	rs9879		TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr8:99054891G>C	ENST00000521291.1	-	3	426	c.280C>G	c.(280-282)Ctg>Gtg	p.L94V	RPL30_ENST00000518164.1_Intron|SNORA72_ENST00000384339.1_RNA|RPL30_ENST00000396070.2_Missense_Mutation_p.L75V|RPL30_ENST00000523172.1_Missense_Mutation_p.L30V|RPL30_ENST00000287038.3_Missense_Mutation_p.L94V|KB-1208A12.3_ENST00000501016.2_RNA			P62888	RL30_HUMAN	ribosomal protein L30	94					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.L94V(1)		kidney(2)|lung(4)|skin(1)	7	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.192)			ATGATAGCCAGTGTGCACACT	0.368																																																	1	Substitution - Missense(1)	kidney(1)											99.0	88.0	91.0					8																	99054891		2203	4300	6503	SO:0001583	missense	6156				CCDS34928.1	8q22	2013-05-09			ENSG00000156482	ENSG00000156482		"""L ribosomal proteins"""	10333	protein-coding gene	gene with protein product		180467				1577483	Standard	NM_000989		Approved	L30	uc003yif.3	P62888	OTTHUMG00000164796	ENST00000521291.1:c.280C>G	8.37:g.99054891G>C	ENSP00000428085:p.Leu94Val		B2R591|P04645|Q502Z6	Missense_Mutation	SNP	ENST00000521291.1	37	CCDS34928.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.708361	0.48517	.	.	ENSG00000156482	ENST00000521291;ENST00000396070;ENST00000287038;ENST00000523172;ENST00000521726	T;T;T;T	0.58506	0.33;0.33;0.33;0.33	4.94	4.94	0.65067	Ribosomal protein L30e, conserved site (1);Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1);	0.000000	0.64402	D	0.000003	T	0.68513	0.3009	M	0.65677	2.01	0.80722	D	1	P	0.35242	0.492	P	0.51385	0.668	T	0.70502	-0.4854	10	0.59425	D	0.04	-6.3373	11.2475	0.49006	0.0848:0.0:0.9152:0.0	.	94	P62888	RL30_HUMAN	V	94;75;94;30;94	ENSP00000428085:L94V;ENSP00000287038:L94V;ENSP00000430506:L30V;ENSP00000429483:L94V	ENSP00000287038:L94V	L	-	1	2	RPL30	99124067	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.719000	0.47244	2.447000	0.82792	0.655000	0.94253	CTG		0.368	RPL30-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380450.1			
SDK1	221935	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	4014046	4014046	+	Silent	SNP	G	G	A	rs375345968		TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr7:4014046G>A	ENST00000404826.2	+	13	2002	c.1863G>A	c.(1861-1863)acG>acA	p.T621T	SDK1_ENST00000389531.3_Silent_p.T621T	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	621	Ig-like C2-type 6.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.T621T(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CATCGAGCACGTCTAGGATCG	0.547																																																	1	Substitution - coding silent(1)	kidney(1)						G		0,4406		0,0,2203	126.0	102.0	110.0		1863	-7.6	0.1	7		110	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SDK1	NM_152744.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		621/2214	4014046	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	221935			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.1863G>A	7.37:g.4014046G>A			Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	CCDS34590.1																																																																																				0.547	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1		NM_152744	
SHH	6469	broad.mit.edu;hgsc.bcm.edu	37	7	155596300	155596300	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr7:155596300T>C	ENST00000297261.2	-	3	833	c.683A>G	c.(682-684)gAc>gGc	p.D228G	SHH_ENST00000472308.1_5'Flank	NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	sonic hedgehog	228					androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|artery development (GO:0060840)|axon guidance (GO:0007411)|Bergmann glial cell differentiation (GO:0060020)|blood coagulation (GO:0007596)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bud outgrowth involved in lung branching (GO:0060447)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway (GO:0060070)|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369)|cell development (GO:0048468)|cell fate specification (GO:0001708)|cell-cell signaling (GO:0007267)|cellular response to lithium ion (GO:0071285)|central nervous system development (GO:0007417)|cerebellar granule cell precursor proliferation (GO:0021930)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|dorsal/ventral neural tube patterning (GO:0021904)|dorsal/ventral pattern formation (GO:0009953)|ectoderm development (GO:0007398)|embryo development (GO:0009790)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal system development (GO:0048706)|endocytosis (GO:0006897)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|establishment of cell polarity (GO:0030010)|forebrain development (GO:0030900)|formation of anatomical boundary (GO:0048859)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|hindgut morphogenesis (GO:0007442)|inner ear development (GO:0048839)|intein-mediated protein splicing (GO:0016539)|intermediate filament organization (GO:0045109)|left lung development (GO:0060459)|limb bud formation (GO:0060174)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|lymphoid progenitor cell differentiation (GO:0002320)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal smoothened signaling pathway involved in prostate gland development (GO:0060783)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephros development (GO:0001656)|midbrain development (GO:0030901)|multicellular structure septum development (GO:0080125)|myoblast differentiation (GO:0045445)|myotube differentiation (GO:0014902)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell migration (GO:0030336)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of kidney smooth muscle cell differentiation (GO:2000357)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ureter smooth muscle cell differentiation (GO:2000062)|negative thymic T cell selection (GO:0045060)|neural crest cell migration (GO:0001755)|neuroblast proliferation (GO:0007405)|neuron fate commitment (GO:0048663)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|organ formation (GO:0048645)|osteoblast development (GO:0002076)|palate development (GO:0060021)|pancreas development (GO:0031016)|pattern specification process (GO:0007389)|patterning of blood vessels (GO:0001569)|polarity specification of anterior/posterior axis (GO:0009949)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of immature T cell proliferation in thymus (GO:0033092)|positive regulation of kidney smooth muscle cell differentiation (GO:2000358)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sclerotome development (GO:0061189)|positive regulation of skeletal muscle cell proliferation (GO:0014858)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureter smooth muscle cell differentiation (GO:2000063)|positive regulation of Wnt signaling pathway (GO:0030177)|positive thymic T cell selection (GO:0045059)|primary prostatic bud elongation (GO:0060516)|prostate epithelial cord elongation (GO:0060523)|prostate gland development (GO:0030850)|protein localization to nucleus (GO:0034504)|regulation of cell proliferation (GO:0042127)|regulation of mesenchymal cell proliferation involved in prostate gland development (GO:0060782)|regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900175)|regulation of odontogenesis (GO:0042481)|regulation of prostatic bud formation (GO:0060685)|regulation of protein localization to nucleus (GO:1900180)|regulation of proteolysis (GO:0030162)|renal system development (GO:0072001)|right lung development (GO:0060458)|salivary gland cavitation (GO:0060662)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|somite development (GO:0061053)|spinal cord dorsal/ventral patterning (GO:0021513)|spinal cord motor neuron differentiation (GO:0021522)|stem cell development (GO:0048864)|striated muscle tissue development (GO:0014706)|T cell differentiation in thymus (GO:0033077)|telencephalon regionalization (GO:0021978)|thalamus development (GO:0021794)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|trachea morphogenesis (GO:0060439)|vasculogenesis (GO:0001570)|ventral midline development (GO:0007418)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|laminin-1 binding (GO:0043237)|morphogen activity (GO:0016015)|patched binding (GO:0005113)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)	p.D228G(1)		central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCCTGGTCGTCCGCCGCCAG	0.701																																																	1	Substitution - Missense(1)	kidney(1)											11.0	14.0	13.0					7																	155596300		2167	4265	6432	SO:0001583	missense	6469				CCDS5942.1	7q36	2010-06-25	2010-06-25		ENSG00000164690	ENSG00000164690			10848	protein-coding gene	gene with protein product		600725	"""sonic hedgehog (Drosophila) homolog"", ""sonic hedgehog homolog (Drosophila)"""	HPE3, HLP3		7590746	Standard	NM_000193		Approved	HHG1, SMMCI, TPT, TPTPS, MCOPCB5	uc003wmk.1	Q15465	OTTHUMG00000151349	ENST00000297261.2:c.683A>G	7.37:g.155596300T>C	ENSP00000297261:p.Asp228Gly		A4D247|Q75MC9	Missense_Mutation	SNP	ENST00000297261.2	37	CCDS5942.1	.	.	.	.	.	.	.	.	.	.	T	14.04	2.417554	0.42918	.	.	ENSG00000164690	ENST00000297261	D	0.99121	-5.45	4.17	4.17	0.49024	Hedgehog/intein hint, N-terminal (1);Peptidase C46, hedgehog protein, hint region (1);	0.000000	0.85682	D	0.000000	D	0.98957	0.9645	M	0.66439	2.03	0.80722	D	1	D;P	0.89917	1.0;0.931	D;P	0.91635	0.999;0.761	D	0.99023	1.0818	10	0.42905	T	0.14	.	13.4423	0.61121	0.0:0.0:0.0:1.0	.	228;231	Q15465;D9ZGF9	SHH_HUMAN;.	G	228	ENSP00000297261:D228G	ENSP00000297261:D228G	D	-	2	0	SHH	155289061	1.000000	0.71417	1.000000	0.80357	0.622000	0.37654	4.365000	0.59486	1.765000	0.52091	0.454000	0.30748	GAC		0.701	SHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322327.1		NM_000193	
SHOC2	8036	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	112764372	112764372	+	Silent	SNP	A	A	G			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr10:112764372A>G	ENST00000369452.4	+	5	1326	c.981A>G	c.(979-981)ttA>ttG	p.L327L	SHOC2_ENST00000265277.5_Silent_p.L281L|SHOC2_ENST00000489390.1_3'UTR	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	327					fibroblast growth factor receptor signaling pathway (GO:0008543)|positive regulation of Ras protein signal transduction (GO:0046579)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase binding (GO:0019903)|protein phosphatase regulator activity (GO:0019888)	p.L327L(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		AGAGTCTTTTATCAAGTCTTG	0.363																																																	2	Substitution - coding silent(2)	lung(1)|kidney(1)											79.0	79.0	79.0					10																	112764372		2203	4300	6503	SO:0001819	synonymous_variant	8036			AB020669	CCDS7568.1, CCDS58095.1	10q25	2014-09-17	2001-11-28		ENSG00000108061	ENSG00000108061			15454	protein-coding gene	gene with protein product		602775	"""soc-2 (suppressor of clear, C.elegans) homolog"""			9618511, 9674433, 10783161	Standard	NM_007373		Approved	KIAA0862, SOC2, SUR-8, SOC-2, SUR8	uc001kzl.4	Q9UQ13	OTTHUMG00000019047	ENST00000369452.4:c.981A>G	10.37:g.112764372A>G			A8K9W8|B3KR23|O76063|Q5VZS8|Q5VZS9	Silent	SNP	ENST00000369452.4	37	CCDS7568.1																																																																																				0.363	SHOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050355.1		NM_007373	
SKA3	221150	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	21742170	21742170	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr13:21742170C>T	ENST00000314759.5	-	4	824	c.700G>A	c.(700-702)Gaa>Aaa	p.E234K	SKA3_ENST00000400018.3_Missense_Mutation_p.E234K	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3	234					chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|spindle microtubule (GO:0005876)		p.E234K(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GTGTAATCTTCATTTAAACAC	0.299																																																	2	Substitution - Missense(2)	kidney(2)											93.0	95.0	95.0					13																	21742170		2203	4299	6502	SO:0001583	missense	221150			AF361358	CCDS31946.1, CCDS53856.1	13q11	2013-01-17	2009-08-19	2009-08-19	ENSG00000165480	ENSG00000165480			20262	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 3"""	C13orf3		19387489, 19289083, 19646878, 19360002	Standard	NM_145061		Approved	MGC4832, RAMA1	uc001unt.3	Q8IX90	OTTHUMG00000016539	ENST00000314759.5:c.700G>A	13.37:g.21742170C>T	ENSP00000319417:p.Glu234Lys		A2A330|A2A331|B2RBY2|Q5VZV5|Q86WR2|Q8NBG1|Q96D22	Missense_Mutation	SNP	ENST00000314759.5	37	CCDS31946.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.069226	0.76301	.	.	ENSG00000165480	ENST00000314759;ENST00000400018	T;T	0.27256	1.68;1.68	5.86	3.88	0.44766	.	0.501755	0.24145	N	0.041130	T	0.30916	0.0780	L	0.54323	1.7	0.30503	N	0.770167	P;P	0.49559	0.925;0.925	P;P	0.49752	0.621;0.621	T	0.28235	-1.0050	10	0.62326	D	0.03	-9.4531	8.1515	0.31143	0.0:0.7669:0.0:0.2331	.	234;234	Q8IX90-3;Q8IX90	.;SKA3_HUMAN	K	234	ENSP00000319417:E234K;ENSP00000382896:E234K	ENSP00000319417:E234K	E	-	1	0	SKA3	20640170	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.517000	0.35867	1.475000	0.48197	0.655000	0.94253	GAA		0.299	SKA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000272912.1		NM_145061	
SLC22A12	116085	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	64368297	64368297	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr11:64368297G>T	ENST00000377574.1	+	9	2232	c.1485G>T	c.(1483-1485)tgG>tgT	p.W495C	SLC22A12_ENST00000336464.7_Missense_Mutation_p.W461C|SLC22A12_ENST00000473690.1_Missense_Mutation_p.W274C|SLC22A12_ENST00000377567.2_Missense_Mutation_p.W387C|SLC22A12_ENST00000377572.1_Missense_Mutation_p.W387C	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	495					cellular homeostasis (GO:0019725)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|urate transmembrane transporter activity (GO:0015143)	p.W495C(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27					Losartan(DB00678)|Probenecid(DB01032)	ATGGCCCCTGGCTGCCCTTGC	0.677																																																	1	Substitution - Missense(1)	kidney(1)											73.0	75.0	75.0					11																	64368297		2201	4297	6498	SO:0001583	missense	116085			AB071863	CCDS8075.1, CCDS60835.1, CCDS60836.1	11q13.1	2013-05-22	2008-01-11		ENSG00000197891	ENSG00000197891		"""Solute carriers"""	17989	protein-coding gene	gene with protein product		607096	"""solute carrier family 22 (organic anion/cation transporter), member 12"""			12024214	Standard	NM_144585		Approved	OAT4L, RST, URAT1	uc009yps.2	Q96S37	OTTHUMG00000045213	ENST00000377574.1:c.1485G>T	11.37:g.64368297G>T	ENSP00000366797:p.Trp495Cys		B7WPG1|G3XAN7|Q19PF7|Q19PF8|Q19PF9|Q19PG0|Q6UXW3|Q96DT2	Missense_Mutation	SNP	ENST00000377574.1	37	CCDS8075.1	.	.	.	.	.	.	.	.	.	.	G	6.141	0.394301	0.11638	.	.	ENSG00000197891	ENST00000377567;ENST00000377574;ENST00000377572;ENST00000473690;ENST00000336464	T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.31	4.68	-2.93	0.05598	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.650804	0.16367	N	0.217515	T	0.61837	0.2379	M	0.82132	2.575	0.18873	N	0.999989	D;P;D	0.54047	0.964;0.867;0.964	P;B;B	0.57425	0.82;0.35;0.428	T	0.53429	-0.8440	10	0.38643	T	0.18	.	2.0407	0.03550	0.1692:0.3992:0.2152:0.2163	.	461;387;495	B5ME56;Q96S37-2;Q96S37	.;.;S22AC_HUMAN	C	387;495;387;274;461	ENSP00000366790:W387C;ENSP00000366797:W495C;ENSP00000366795:W387C;ENSP00000438437:W274C;ENSP00000336836:W461C	ENSP00000336836:W461C	W	+	3	0	SLC22A12	64124873	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-2.325000	0.01115	-0.534000	0.06315	-0.258000	0.10820	TGG		0.677	SLC22A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104966.2		NM_144585	
SLC34A3	142680	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	140126522	140126522	+	Splice_Site	SNP	A	A	T			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr9:140126522A>T	ENST00000538474.1	+	3	309		c.e3-1		SLC34A3_ENST00000361134.2_Splice_Site	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3						cellular phosphate ion homeostasis (GO:0030643)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)	p.?(1)		kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CTACCTCCACAGGGACCTCCA	0.622																																																	1	Unknown(1)	kidney(1)											121.0	124.0	123.0					9																	140126522		2203	4300	6503	SO:0001630	splice_region_variant	142680			AB055000	CCDS7038.1	9q34.3	2013-07-17	2013-07-17		ENSG00000198569	ENSG00000198569		"""Solute carriers"""	20305	protein-coding gene	gene with protein product		609826	"""solute carrier family 34 (sodium phosphate), member 3"""			11880379, 16358215, 16358214	Standard	NM_080877		Approved	NPTIIc, FLJ38680	uc004cmf.1	Q8N130	OTTHUMG00000131780	ENST00000538474.1:c.86-1A>T	9.37:g.140126522A>T			A2BFA1	Splice_Site	SNP	ENST00000538474.1	37	CCDS7038.1	.	.	.	.	.	.	.	.	.	.	a	2.651	-0.281976	0.05642	.	.	ENSG00000198569	ENST00000538474;ENST00000361134	.	.	.	3.58	2.33	0.28932	.	.	.	.	.	.	.	.	.	.	.	0.26674	N	0.971664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.9813	0.19409	0.7704:0.0:0.0:0.2296	.	.	.	.	.	-1	.	.	.	+	.	.	SLC34A3	139246343	0.197000	0.23362	0.556000	0.28293	0.040000	0.13550	0.889000	0.28282	1.486000	0.48398	0.255000	0.18592	.		0.622	SLC34A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254712.1		NM_080877	Intron
SLC39A6	25800	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	33706569	33706569	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr18:33706569A>C	ENST00000590986.1	-	2	691	c.402T>G	c.(400-402)caT>caG	p.H134Q	SLC39A6_ENST00000440549.2_Intron|SLC39A6_ENST00000269187.5_Missense_Mutation_p.H134Q			Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	134	His-rich.				cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|lamellipodium membrane (GO:0031258)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)	p.H134Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						CAGAAGCAGCatgattatggt	0.483																																																	1	Substitution - Missense(1)	kidney(1)											120.0	107.0	111.0					18																	33706569		2082	4214	6296	SO:0001583	missense	25800			U41060	CCDS42428.1, CCDS45854.1	18q12.2	2013-05-22				ENSG00000141424		"""Solute carriers"""	18607	protein-coding gene	gene with protein product		608731	"""solute carrier family 39 (metal ion transporter), member 6"""			12659941, 12839489	Standard	NM_012319		Approved	LIV-1	uc010dmy.3	Q13433		ENST00000590986.1:c.402T>G	18.37:g.33706569A>C	ENSP00000465915:p.His134Gln		B4DR49|B4E224|Q8IXR3|Q96HP5	Missense_Mutation	SNP	ENST00000590986.1	37	CCDS42428.1	.	.	.	.	.	.	.	.	.	.	A	9.817	1.184855	0.21870	.	.	ENSG00000141424	ENST00000269187	T	0.44881	0.91	5.18	-0.417	0.12347	.	0.389317	0.27023	N	0.021305	T	0.23210	0.0561	L	0.46157	1.445	0.09310	N	0.999997	B	0.23058	0.079	B	0.21360	0.034	T	0.17198	-1.0377	10	0.08179	T	0.78	-2.6328	1.116	0.01714	0.5244:0.1549:0.1713:0.1494	.	134	Q13433	S39A6_HUMAN	Q	134	ENSP00000269187:H134Q	ENSP00000269187:H134Q	H	-	3	2	SLC39A6	31960567	0.001000	0.12720	0.129000	0.21949	0.687000	0.40016	-0.413000	0.07123	-0.188000	0.10499	-0.388000	0.06559	CAT		0.483	SLC39A6-004	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000444136.1			
SMS	6611	broad.mit.edu;hgsc.bcm.edu	37	X	22002497	22002497	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chrX:22002497G>T	ENST00000404933.2	+	8	1078	c.826G>T	c.(826-828)Gat>Tat	p.D276Y	SMS_ENST00000415881.2_Missense_Mutation_p.D180Y|SMS_ENST00000379404.1_Missense_Mutation_p.D223Y	NM_004595.4	NP_004586.2	P52788	SPSY_HUMAN	spermine synthase	276	PABS. {ECO:0000255|PROSITE- ProRule:PRU00354}.				cellular nitrogen compound metabolic process (GO:0034641)|methionine metabolic process (GO:0006555)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine biosynthetic process (GO:0006597)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	spermidine synthase activity (GO:0004766)|spermine synthase activity (GO:0016768)	p.D180Y(1)|p.D276Y(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2)	14					Spermine(DB00127)	TGTGATTAATGATTTGACAGC	0.393																																																	2	Substitution - Missense(2)	kidney(2)											141.0	120.0	127.0					X																	22002497		2203	4300	6503	SO:0001583	missense	6611			AD001528	CCDS14203.1, CCDS59161.1	Xp22.1	2014-05-16			ENSG00000102172	ENSG00000102172			11123	protein-coding gene	gene with protein product		300105	"""Snyder-Robinson X-linked mental retardation syndrome"""	SRS		7546290, 9299240, 14508504	Standard	NM_004595		Approved	SPMSY, SpS, MRSR	uc004dag.4	P52788	OTTHUMG00000021239	ENST00000404933.2:c.826G>T	X.37:g.22002497G>T	ENSP00000385746:p.Asp276Tyr		A6NHA7|A6NI34|B2R9M0|O00544|Q9UQS1	Missense_Mutation	SNP	ENST00000404933.2	37	CCDS14203.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.188130	0.78789	.	.	ENSG00000102172	ENST00000404933;ENST00000379404;ENST00000415881	D;D;D	0.85411	-1.98;-1.98;-1.98	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	D	0.93579	0.7950	M	0.89601	3.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	D	0.95008	0.8149	10	0.87932	D	0	-26.8216	16.1293	0.81414	0.0:0.0:1.0:0.0	.	180;276	B4DE40;P52788	.;SPSY_HUMAN	Y	276;223;180	ENSP00000385746:D276Y;ENSP00000368714:D223Y;ENSP00000388906:D180Y	ENSP00000368714:D223Y	D	+	1	0	SMS	21912418	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.241000	0.95402	2.090000	0.63153	0.513000	0.50165	GAT		0.393	SMS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056032.1		NM_004595	
SQRDL	58472	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	45962137	45962137	+	Silent	SNP	A	A	G			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr15:45962137A>G	ENST00000260324.7	+	4	803	c.417A>G	c.(415-417)cgA>cgG	p.R139R	SQRDL_ENST00000568606.1_Silent_p.R139R|RP11-96O20.4_ENST00000564080.1_Silent_p.R139R	NM_021199.3	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	139					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial inner membrane (GO:0005743)	sulfide:quinone oxidoreductase activity (GO:0070224)	p.R139R(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		TCTCCTACCGATATCTTATTA	0.448																																																	1	Substitution - coding silent(1)	kidney(1)											297.0	266.0	277.0					15																	45962137		2198	4297	6495	SO:0001819	synonymous_variant	58472			AF042284	CCDS10127.1	15q21.1	2010-08-05			ENSG00000137767	ENSG00000137767			20390	protein-coding gene	gene with protein product						10810093, 10224084	Standard	NM_021199		Approved	CGI-44	uc001zvu.4	Q9Y6N5	OTTHUMG00000131476	ENST00000260324.7:c.417A>G	15.37:g.45962137A>G			Q9UQM8	Silent	SNP	ENST00000260324.7	37	CCDS10127.1																																																																																				0.448	SQRDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254319.2			
SRRM2	23524	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	2809634	2809634	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr16:2809634G>T	ENST00000301740.8	+	9	1354	c.805G>T	c.(805-807)Gct>Tct	p.A269S		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	269	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)	p.A269S(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TGCTGACTCTGCTTCCTCCTC	0.547																																																	1	Substitution - Missense(1)	kidney(1)											74.0	69.0	70.0					16																	2809634		2198	4300	6498	SO:0001583	missense	23524			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.805G>T	16.37:g.2809634G>T	ENSP00000301740:p.Ala269Ser		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.168162	0.38315	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000396975;ENST00000426305	T	0.21932	1.98	4.73	4.73	0.59995	.	0.000000	0.52532	D	0.000063	T	0.27967	0.0689	N	0.24115	0.695	0.32516	N	0.536942	D	0.63880	0.993	D	0.70227	0.968	T	0.08391	-1.0724	10	0.14656	T	0.56	-9.568	13.5438	0.61690	0.0:0.0:1.0:0.0	.	269	Q9UQ35	SRRM2_HUMAN	S	269;269;173;234	ENSP00000301740:A269S	ENSP00000301740:A269S	A	+	1	0	SRRM2	2749635	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	3.062000	0.49971	2.327000	0.79052	0.462000	0.41574	GCT		0.547	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			
SSBP4	170463	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	18543023	18543023	+	Splice_Site	SNP	A	A	G			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr19:18543023A>G	ENST00000270061.7	+	10	997	c.703A>G	c.(703-705)Atg>Gtg	p.M235V	SSBP4_ENST00000348495.6_Splice_Site_p.M213V|SSBP4_ENST00000599699.2_5'Flank	NM_032627.4	NP_116016.1	Q9BWG4	SSBP4_HUMAN	single stranded DNA binding protein 4	235	Pro-rich.					nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)	p.M235V(1)		endometrium(2)|kidney(1)|skin(1)	4						TGCCATGAACATGTAAGACCC	0.642																																																	1	Substitution - Missense(1)	kidney(1)											26.0	32.0	30.0					19																	18543023		2202	4297	6499	SO:0001630	splice_region_variant	170463				CCDS12378.1, CCDS32960.1	19p13.1	2008-02-05				ENSG00000130511			15676	protein-coding gene	gene with protein product		607391				12079286	Standard	NM_032627		Approved		uc002niy.3	Q9BWG4		ENST00000270061.7:c.704+1A>G	19.37:g.18543023A>G			Q9BWW5	Missense_Mutation	SNP	ENST00000270061.7	37	CCDS12378.1	.	.	.	.	.	.	.	.	.	.	A	15.77	2.931201	0.52866	.	.	ENSG00000130511	ENST00000270061;ENST00000348495	.	.	.	3.67	3.67	0.42095	.	0.000000	0.85682	U	0.000000	T	0.57198	0.2037	M	0.70595	2.14	0.58432	D	0.999994	P;P	0.36974	0.576;0.576	P;P	0.44673	0.457;0.457	T	0.52200	-0.8607	9	0.10902	T	0.67	-6.3764	8.896	0.35465	1.0:0.0:0.0:0.0	.	213;235	Q9BWW5;Q9BWG4	.;SSBP4_HUMAN	V	235;213	.	ENSP00000270061:M235V	M	+	1	0	SSBP4	18404023	1.000000	0.71417	1.000000	0.80357	0.243000	0.25628	3.877000	0.56123	1.682000	0.51000	0.379000	0.24179	ATG		0.642	SSBP4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466348.3		NM_032627	Missense_Mutation
STAB2	55576	broad.mit.edu;hgsc.bcm.edu	37	12	104126850	104126850	+	Missense_Mutation	SNP	G	G	A	rs147807697		TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr12:104126850G>A	ENST00000388887.2	+	51	5554	c.5350G>A	c.(5350-5352)Gac>Aac	p.D1784N		NM_017564.9	NP_060034.9			stabilin 2									p.D1784N(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CTGGCCCACCGACCAAGCCCT	0.522																																																	1	Substitution - Missense(1)	kidney(1)											228.0	184.0	199.0					12																	104126850		2203	4300	6503	SO:0001583	missense	55576			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.5350G>A	12.37:g.104126850G>A	ENSP00000373539:p.Asp1784Asn			Missense_Mutation	SNP	ENST00000388887.2	37	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.174689	0.78452	.	.	ENSG00000136011	ENST00000388887;ENST00000258495	D	0.89746	-2.56	5.11	5.11	0.69529	FAS1 domain (5);	0.000000	0.85682	D	0.000000	D	0.93122	0.7810	L	0.60957	1.885	0.50313	D	0.999869	D	0.89917	1.0	D	0.91635	0.999	D	0.92740	0.6207	10	0.44086	T	0.13	.	17.3045	0.87191	0.0:0.0:1.0:0.0	.	1784	Q8WWQ8	STAB2_HUMAN	N	1784;471	ENSP00000373539:D1784N	ENSP00000258495:D471N	D	+	1	0	STAB2	102650980	1.000000	0.71417	0.494000	0.27515	0.554000	0.35429	6.190000	0.72057	2.383000	0.81215	0.655000	0.94253	GAC		0.522	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			
TBXAS1	6916	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	139529248	139529248	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr7:139529248T>C	ENST00000455353.1	+	1	196	c.59T>C	c.(58-60)cTg>cCg	p.L20P	TBXAS1_ENST00000448866.1_Missense_Mutation_p.L20P|TBXAS1_ENST00000458722.1_Missense_Mutation_p.L20P|TBXAS1_ENST00000425687.1_Intron|TBXAS1_ENST00000411653.1_Missense_Mutation_p.L20P|TBXAS1_ENST00000539806.1_Missense_Mutation_p.L21P|TBXAS1_ENST00000414508.2_Missense_Mutation_p.L21P|TBXAS1_ENST00000416849.2_Missense_Mutation_p.L21P|TBXAS1_ENST00000436047.2_Missense_Mutation_p.L21P|TBXAS1_ENST00000263552.6_Missense_Mutation_p.L21P|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000336425.5_Missense_Mutation_p.L20P			P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	20					arachidonic acid metabolic process (GO:0019369)|cellular chloride ion homeostasis (GO:0030644)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|positive regulation of vasoconstriction (GO:0045907)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|thromboxane-A synthase activity (GO:0004796)	p.L21P(2)		breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)				Ridogrel(DB01207)|Sulfasalazine(DB00795)	ACGGTGGCCCTGTCAGTGGCT	0.572																																																	2	Substitution - Missense(2)	kidney(2)											69.0	61.0	64.0					7																	139529248		2203	4300	6503	SO:0001583	missense	6916			L36085	CCDS5855.1, CCDS5856.1, CCDS55174.1, CCDS55175.1	7q34-q35	2014-09-17	2008-07-31		ENSG00000059377	ENSG00000059377	5.3.99.5	"""Cytochrome P450s"""	11609	protein-coding gene	gene with protein product	"""cytochrome P450, family 5, subfamily A, polypeptide 1"""	274180	"""thromboxane A synthase 1 (platelet, cytochrome P450, subfamily V)"""			1714723, 8964509	Standard	NM_001061		Approved	CYP5, CYP5A1, THAS, TXS, TXAS, TS	uc011kqv.2	P24557	OTTHUMG00000157302	ENST00000455353.1:c.59T>C	7.37:g.139529248T>C	ENSP00000391567:p.Leu20Pro		B4DJG6|E7EMU9|E7EP08|E7ESB5|O14987|Q16843|Q16844|Q8IUN1|Q96CN2|Q9GZW4|Q9HD77|Q9HD78|Q9HD79|Q9HD80|Q9HD81|Q9HD82|Q9HD83|Q9HD84	Missense_Mutation	SNP	ENST00000455353.1	37		.	.	.	.	.	.	.	.	.	.	T	14.06	2.422851	0.43020	.	.	ENSG00000059377	ENST00000263552;ENST00000438104;ENST00000336425;ENST00000416849;ENST00000436047;ENST00000414508;ENST00000448866;ENST00000455353;ENST00000458722;ENST00000411653;ENST00000539806	T;T;T;T;T;T;T;T;T;T;T	0.12984	2.63;2.63;2.63;2.63;2.63;2.63;2.63;2.63;2.63;2.63;2.63	5.17	5.17	0.71159	.	0.082376	0.50627	D	0.000116	T	0.20210	0.0486	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.994;0.999;0.999	D;D;D;P;D;D	0.85130	0.997;0.972;0.997;0.855;0.997;0.997	T	0.05517	-1.0880	10	0.72032	D	0.01	.	11.3244	0.49440	0.0:0.0:0.0:1.0	.	21;21;21;21;21;20	B7Z6W1;E7EP08;B4E0M5;E7EMU9;Q53F23;P24557	.;.;.;.;.;THAS_HUMAN	P	21;20;20;21;21;21;20;20;20;20;21	ENSP00000263552:L21P;ENSP00000388612:L20P;ENSP00000338087:L20P;ENSP00000389414:L21P;ENSP00000392361:L21P;ENSP00000392702:L21P;ENSP00000402536:L20P;ENSP00000391567:L20P;ENSP00000411274:L20P;ENSP00000411326:L20P;ENSP00000444626:L21P	ENSP00000263552:L21P	L	+	2	0	TBXAS1	139175717	0.672000	0.27530	0.887000	0.34795	0.187000	0.23431	3.432000	0.52824	2.161000	0.67846	0.528000	0.53228	CTG		0.572	TBXAS1-008	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000348380.1			
TCEAL4	79921	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	102841696	102841696	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chrX:102841696A>T	ENST00000472745.1	+	3	645	c.93A>T	c.(91-93)gaA>gaT	p.E31D	TCEAL4_ENST00000494801.1_Missense_Mutation_p.E31D|TCEAL4_ENST00000415568.2_Missense_Mutation_p.E31D|TCEAL4_ENST00000468024.1_Missense_Mutation_p.E31D|TCEAL4_ENST00000472484.1_Missense_Mutation_p.E31D|TCEAL4_ENST00000372629.4_Missense_Mutation_p.E174D			Q96EI5	TCAL4_HUMAN	transcription elongation factor A (SII)-like 4	31	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.E174D(1)		endometrium(1)|kidney(1)|large_intestine(2)|skin(2)	6						GAAAGCCAGAAGTAACTTGTA	0.398																																																	1	Substitution - Missense(1)	kidney(1)											88.0	89.0	88.0					X																	102841696		2184	4292	6476	SO:0001583	missense	79921			AF314542	CCDS14510.2, CCDS76004.1	Xq22.2	2014-03-21			ENSG00000133142	ENSG00000133142			26121	protein-coding gene	gene with protein product						14702039, 16221301	Standard	XM_005262192		Approved	FLJ21174, WEX7	uc004ekn.3	Q96EI5	OTTHUMG00000022103	ENST00000472745.1:c.93A>T	X.37:g.102841696A>T	ENSP00000424314:p.Glu31Asp		Q8WY12|Q9H2H1|Q9H775	Missense_Mutation	SNP	ENST00000472745.1	37	CCDS14510.2	.	.	.	.	.	.	.	.	.	.	A	10.58	1.390298	0.25118	.	.	ENSG00000133142	ENST00000372629;ENST00000468024;ENST00000472484;ENST00000415568;ENST00000414064;ENST00000490644;ENST00000459722;ENST00000472745;ENST00000494801;ENST00000434216;ENST00000425011;ENST00000469586	T;T;T;T;T;T;T;T;T;T;T	0.63417	1.64;1.77;1.77;1.77;1.18;1.29;1.77;1.77;-0.04;0.49;1.67	3.72	-0.435	0.12279	.	1.629200	0.03786	N	0.262059	T	0.45357	0.1338	L	0.34521	1.04	0.09310	N	1	P	0.51057	0.941	B	0.39503	0.301	T	0.35400	-0.9790	10	0.20046	T	0.44	.	4.0968	0.09995	0.4446:0.4284:0.127:0.0	.	31	Q96EI5	TCAL4_HUMAN	D	174;31;31;31;31;31;31;31;31;31;31;31	ENSP00000361712:E174D;ENSP00000421857:E31D;ENSP00000421156:E31D;ENSP00000415564:E31D;ENSP00000425883:E31D;ENSP00000423723:E31D;ENSP00000424314:E31D;ENSP00000427494:E31D;ENSP00000411320:E31D;ENSP00000394029:E31D;ENSP00000427053:E31D	ENSP00000361712:E174D	E	+	3	2	TCEAL4	102728352	0.147000	0.22687	0.002000	0.10522	0.974000	0.67602	-0.115000	0.10741	-0.140000	0.11394	0.427000	0.28365	GAA		0.398	TCEAL4-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252339.2		NM_024863	
TMEM2	23670	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	74305109	74305109	+	Silent	SNP	C	C	T			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr9:74305109C>T	ENST00000377044.4	-	22	4289	c.3750G>A	c.(3748-3750)gtG>gtA	p.V1250V	TMEM2_ENST00000377066.5_Silent_p.V1187V|TMEM2_ENST00000396272.3_Silent_p.V243V	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1250					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.V1250V(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		TGCACGGATCCACAACAAGGA	0.458																																																	1	Substitution - coding silent(1)	kidney(1)											120.0	99.0	106.0					9																	74305109		2203	4300	6503	SO:0001819	synonymous_variant	23670				CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.3750G>A	9.37:g.74305109C>T			A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Silent	SNP	ENST00000377044.4	37	CCDS6638.1																																																																																				0.458	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2		NM_013390	
TNRC18	84629	broad.mit.edu	37	7	5352561	5352563	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	GAG	GAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr7:5352561_5352563delGAG	ENST00000430969.1	-	27	8307_8309	c.7959_7961delCTC	c.(7957-7962)tcctct>tct	p.2653_2654SS>S	TNRC18_ENST00000399537.4_In_Frame_Del_p.2653_2654SS>S	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2653	Ser-rich.						chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		ggacgaggaagaggaggaggagg	0.606																																																	0										11,3879		0,11,1934						-5.0	0.0			7	26,7484		1,24,3730	no	coding	TNRC18	NM_001080495.2		1,35,5664	A1A1,A1R,RR		0.3462,0.2828,0.3246				37,11363				SO:0001651	inframe_deletion	84629			U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.7959_7961delCTC	7.37:g.5352570_5352572delGAG	ENSP00000395538:p.Ser2671del		A8MX41|Q96JH1|Q96K91	In_Frame_Del	DEL	ENST00000430969.1	37	CCDS47534.1																																																																																				0.606	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				
TOM1L1	10040	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	53027421	53027421	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr17:53027421A>G	ENST00000575882.1	+	14	1657	c.1304A>G	c.(1303-1305)gAt>gGt	p.D435G	TOM1L1_ENST00000348161.4_Missense_Mutation_p.D358G|TOM1L1_ENST00000536554.1_Missense_Mutation_p.D358G|TOM1L1_ENST00000572158.1_Missense_Mutation_p.D428G|TOM1L1_ENST00000540336.1_Missense_Mutation_p.D323G|COX11_ENST00000573912.1_5'Flank|TOM1L1_ENST00000445275.2_Missense_Mutation_p.D424G	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	435					activation of protein kinase activity (GO:0032147)|intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|positive regulation of protein autophosphorylation (GO:0031954)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	clathrin binding (GO:0030276)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|ubiquitin binding (GO:0043130)	p.D435G(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						ACAAAAAGTGATCTCCAGCCA	0.343																																																	1	Substitution - Missense(1)	kidney(1)											101.0	97.0	98.0					17																	53027421		2203	4300	6503	SO:0001583	missense	10040			AJ010071	CCDS11582.1	17q23.2	2008-01-03	2007-01-12			ENSG00000141198			11983	protein-coding gene	gene with protein product		604701	"""target of myb1 (chicken) homolog-like 1"""			10329004, 15611048, 17977829	Standard	NM_005486		Approved	SRCASM	uc002iud.2	O75674		ENST00000575882.1:c.1304A>G	17.37:g.53027421A>G	ENSP00000460823:p.Asp435Gly		Q53G06|Q8N749	Missense_Mutation	SNP	ENST00000575882.1	37	CCDS11582.1	.	.	.	.	.	.	.	.	.	.	A	14.76	2.630996	0.46944	.	.	ENSG00000141198	ENST00000445275;ENST00000540336;ENST00000348161;ENST00000536554	T;T;T	0.27256	1.68;1.72;1.72	5.51	4.42	0.53409	.	0.253751	0.34156	N	0.004208	T	0.22044	0.0531	L	0.54323	1.7	0.36987	D	0.894592	P;B;P;B	0.35077	0.483;0.335;0.483;0.335	B;B;B;B	0.30179	0.112;0.079;0.112;0.079	T	0.13629	-1.0502	10	0.30078	T	0.28	-16.9896	10.6524	0.45655	0.8399:0.1601:0.0:0.0	.	323;428;358;435	B4DUW5;B4E1N0;B7Z9E2;O75674	.;.;.;TM1L1_HUMAN	G	435;323;358;358	ENSP00000441242:D323G;ENSP00000343901:D358G;ENSP00000443099:D358G	ENSP00000343901:D358G	D	+	2	0	TOM1L1	50382420	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	1.955000	0.40372	1.074000	0.40909	0.459000	0.35465	GAT		0.343	TOM1L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439029.2		NM_005486	
TPSD1	23430	hgsc.bcm.edu	37	16	1306971	1306971	+	Missense_Mutation	SNP	A	A	G	rs72775466		TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr16:1306971A>G	ENST00000211076.3	+	3	576	c.428A>G	c.(427-429)cAc>cGc	p.H143R	TPSD1_ENST00000397534.2_Missense_Mutation_p.H136R|RP11-616M22.5_ENST00000566997.1_RNA	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	143	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				ATCTCCAGCCACATCCACACG	0.647																																																	0													49.0	47.0	47.0					16																	1306971		2198	4299	6497	SO:0001583	missense	23430			AF206664	CCDS10432.1	16p13.3	2008-07-29			ENSG00000095917	ENSG00000095917	3.4.21.59		14118	protein-coding gene	gene with protein product	"""mMCP-7-like II"", ""mMCP-7-like I"", ""MMCP-7-LIKE-2"""	609272				9920877	Standard	NM_012217		Approved		uc002clb.1	Q9BZJ3	OTTHUMG00000128511	ENST00000211076.3:c.428A>G	16.37:g.1306971A>G	ENSP00000211076:p.His143Arg		O95824|Q8TDI6|Q96L36|Q96RZ5|Q9H2Y6|Q9UQI8	Missense_Mutation	SNP	ENST00000211076.3	37	CCDS10432.1	.	.	.	.	.	.	.	.	.	.	a	0.006	-2.041578	0.00402	.	.	ENSG00000095917	ENST00000397534;ENST00000211076	T;T	0.81330	-1.48;-1.48	2.55	1.26	0.21427	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.828860	0.02995	N	0.147379	T	0.68035	0.2957	N	0.20304	0.555	0.80722	P	0.0	B;B	0.10296	0.003;0.003	B;B	0.14578	0.011;0.011	T	0.55823	-0.8080	9	0.30078	T	0.28	.	5.9116	0.19031	0.767:0.0:0.0:0.233	.	127;143	C9JJL5;Q9BZJ3	.;TRYD_HUMAN	R	136;143	ENSP00000380668:H136R;ENSP00000211076:H143R	ENSP00000211076:H143R	H	+	2	0	TPSD1	1246972	0.000000	0.05858	0.001000	0.08648	0.073000	0.16967	-0.594000	0.05733	1.156000	0.42514	0.155000	0.16302	CAC		0.647	TPSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250320.2			
TPSD1	23430	hgsc.bcm.edu	37	16	1306973	1306973	+	Missense_Mutation	SNP	A	A	G	rs79313952		TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr16:1306973A>G	ENST00000211076.3	+	3	578	c.430A>G	c.(430-432)Atc>Gtc	p.I144V	TPSD1_ENST00000397534.2_Missense_Mutation_p.I137V|RP11-616M22.5_ENST00000566997.1_RNA	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	144	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				CTCCAGCCACATCCACACGGT	0.642																																																	0													49.0	47.0	47.0					16																	1306973		2198	4299	6497	SO:0001583	missense	23430			AF206664	CCDS10432.1	16p13.3	2008-07-29			ENSG00000095917	ENSG00000095917	3.4.21.59		14118	protein-coding gene	gene with protein product	"""mMCP-7-like II"", ""mMCP-7-like I"", ""MMCP-7-LIKE-2"""	609272				9920877	Standard	NM_012217		Approved		uc002clb.1	Q9BZJ3	OTTHUMG00000128511	ENST00000211076.3:c.430A>G	16.37:g.1306973A>G	ENSP00000211076:p.Ile144Val		O95824|Q8TDI6|Q96L36|Q96RZ5|Q9H2Y6|Q9UQI8	Missense_Mutation	SNP	ENST00000211076.3	37	CCDS10432.1	761	0.3484432234432234	140	0.2845528455284553	110	0.30386740331491713	250	0.4370629370629371	261	0.34432717678100266	a	0.001	-2.882799	0.00061	.	.	ENSG00000095917	ENST00000397534;ENST00000211076	D;D	0.85702	-2.02;-2.02	2.55	-5.1	0.02911	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.756136	0.11242	N	0.584558	T	0.00012	0.0000	N	0.04043	-0.29	0.80722	P	0.0	B;B	0.06786	0.0;0.001	B;B	0.13407	0.009;0.009	T	0.23404	-1.0189	9	0.02654	T	1	.	0.0994	0.00046	0.3174:0.1569:0.211:0.3148	.	128;144	C9JJL5;Q9BZJ3	.;TRYD_HUMAN	V	137;144	ENSP00000380668:I137V;ENSP00000211076:I144V	ENSP00000211076:I144V	I	+	1	0	TPSD1	1246974	0.000000	0.05858	0.000000	0.03702	0.065000	0.16274	-1.101000	0.03336	-1.132000	0.02907	-1.639000	0.00775	ATC		0.642	TPSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250320.2			
TRIP13	9319	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	916051	916051	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr5:916051G>C	ENST00000166345.3	+	12	1522	c.1166G>C	c.(1165-1167)aGa>aCa	p.R389T	TRIP13_ENST00000510412.1_3'UTR	NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	389					double-strand break repair (GO:0006302)|female meiosis I (GO:0007144)|male meiosis I (GO:0007141)|oocyte maturation (GO:0001556)|oogenesis (GO:0048477)|reciprocal meiotic recombination (GO:0007131)|regulation of RNA biosynthetic process (GO:2001141)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|transcription from RNA polymerase II promoter (GO:0006366)	male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transcription cofactor activity (GO:0003712)	p.R389T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			CGGGTCCTGAGAAAACTCCCC	0.542																																																	1	Substitution - Missense(1)	kidney(1)											156.0	167.0	163.0					5																	916051		2203	4300	6503	SO:0001583	missense	9319			L40384	CCDS3858.1	5p15	2010-04-21			ENSG00000071539	ENSG00000071539		"""ATPases / AAA-type"""	12307	protein-coding gene	gene with protein product	"""thyroid receptor interacting protein 13"""	604507				7776974	Standard	NM_004237		Approved	16E1BP	uc003jbr.3	Q15645	OTTHUMG00000090349	ENST00000166345.3:c.1166G>C	5.37:g.916051G>C	ENSP00000166345:p.Arg389Thr		C9K0T3|D3DTC0|O15324	Missense_Mutation	SNP	ENST00000166345.3	37	CCDS3858.1	.	.	.	.	.	.	.	.	.	.	.	24.7	4.563598	0.86335	.	.	ENSG00000071539	ENST00000166345	D	0.95238	-3.65	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.97241	0.9098	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.96729	0.9538	10	0.38643	T	0.18	-16.2213	17.703	0.88301	0.0:0.0:1.0:0.0	.	389	Q15645	PCH2_HUMAN	T	389	ENSP00000166345:R389T	ENSP00000166345:R389T	R	+	2	0	TRIP13	969051	1.000000	0.71417	0.995000	0.50966	0.769000	0.43574	7.925000	0.87563	2.533000	0.85409	0.561000	0.74099	AGA		0.542	TRIP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206721.2		NM_004237	
UBN1	29855	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	4920562	4920562	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr16:4920562G>T	ENST00000396658.4	+	9	2060	c.1357G>T	c.(1357-1359)Ggc>Tgc	p.G453C	UBN1_ENST00000262376.6_Missense_Mutation_p.G453C|UBN1_ENST00000590769.1_Missense_Mutation_p.G453C|UBN1_ENST00000545171.1_Missense_Mutation_p.G453C|UBN1_ENST00000585857.1_3'UTR	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	453					chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G453C(1)		NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						GGAAGCCATTGGCAGGGCGAT	0.577																																																	1	Substitution - Missense(1)	kidney(1)											52.0	43.0	46.0					16																	4920562		2197	4300	6497	SO:0001583	missense	29855			AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.1357G>T	16.37:g.4920562G>T	ENSP00000379894:p.Gly453Cys		B7Z6D3|D3DUE8|Q13079|Q9P1P7	Missense_Mutation	SNP	ENST00000396658.4	37	CCDS10525.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.554833	0.65425	.	.	ENSG00000118900	ENST00000262376;ENST00000545171;ENST00000396658	T;T;T	0.42900	0.96;0.96;0.96	5.23	4.24	0.50183	.	0.181877	0.49305	D	0.000153	T	0.29588	0.0738	L	0.27053	0.805	0.38121	D	0.937856	B;B	0.26744	0.158;0.045	B;B	0.22753	0.041;0.035	T	0.13308	-1.0514	10	0.36615	T	0.2	-4.8258	12.3619	0.55207	0.0865:0.0:0.9135:0.0	.	453;453	Q9NPG3-2;Q9NPG3	.;UBN1_HUMAN	C	453	ENSP00000262376:G453C;ENSP00000442379:G453C;ENSP00000379894:G453C	ENSP00000262376:G453C	G	+	1	0	UBN1	4860563	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	2.471000	0.45127	1.127000	0.42034	0.655000	0.94253	GGC		0.577	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1		NM_016936	
VWA3B	200403	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	98914472	98914472	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr2:98914472C>A	ENST00000477737.1	+	24	3464	c.3260C>A	c.(3259-3261)gCc>gAc	p.A1087D	AC092675.1_ENST00000401293.1_RNA|VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1087								p.A1087D(1)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GTGGGGGGCGCCATGCCCTGC	0.587																																																	1	Substitution - Missense(1)	kidney(1)											63.0	68.0	67.0					2																	98914472		2098	4196	6294	SO:0001583	missense	200403			AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.3260C>A	2.37:g.98914472C>A	ENSP00000417955:p.Ala1087Asp		B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.254000	0.80135	.	.	ENSG00000168658	ENST00000477737;ENST00000358269	T	0.25414	1.8	4.93	4.93	0.64822	.	0.000000	0.32548	U	0.005960	T	0.47728	0.1461	L	0.58101	1.795	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.87578	0.998;0.916	T	0.43669	-0.9377	10	0.87932	D	0	.	15.5072	0.75750	0.0:1.0:0.0:0.0	.	479;1087	Q502W6-5;Q502W6	.;VWA3B_HUMAN	D	1087;209	ENSP00000417955:A1087D	ENSP00000351009:A209D	A	+	2	0	VWA3B	98280904	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	4.520000	0.60524	2.736000	0.93811	0.655000	0.94253	GCC		0.587	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2		NM_144992	
WBSCR17	64409	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	70886059	70886059	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr7:70886059G>T	ENST00000333538.5	+	5	1564	c.930G>T	c.(928-930)tgG>tgT	p.W310C	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	310					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.W310C(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CAAAAGACTGGTGGGACGCCG	0.582																																																	1	Substitution - Missense(1)	kidney(1)											65.0	67.0	66.0					7																	70886059		2203	4300	6503	SO:0001583	missense	64409			AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.930G>T	7.37:g.70886059G>T	ENSP00000329654:p.Trp310Cys		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402903	0.83230	.	.	ENSG00000185274	ENST00000333538	T	0.61274	0.12	5.32	5.32	0.75619	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	T	0.77280	0.4107	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.79843	-0.1632	10	0.66056	D	0.02	.	18.0015	0.89199	0.0:0.0:1.0:0.0	.	310	Q6IS24	GLTL3_HUMAN	C	310	ENSP00000329654:W310C	ENSP00000329654:W310C	W	+	3	0	WBSCR17	70523995	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.490000	0.84030	0.557000	0.71058	TGG		0.582	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1		NM_022479	
WNK1	65125	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	993869	993869	+	Missense_Mutation	SNP	C	C	G	rs143361850		TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr12:993869C>G	ENST00000315939.6	+	19	4542	c.3899C>G	c.(3898-3900)tCc>tGc	p.S1300C	WNK1_ENST00000340908.4_Missense_Mutation_p.S893C|WNK1_ENST00000535572.1_Missense_Mutation_p.S1053C|WNK1_ENST00000537687.1_Missense_Mutation_p.S1560C|WNK1_ENST00000530271.2_Missense_Mutation_p.S1798C	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1300					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)	p.S1560C(1)|p.S1300C(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TCTGCATCATCCCTTAGTCTA	0.433																																					Colon(19;451 567 6672 12618 28860)												2	Substitution - Missense(2)	kidney(2)											128.0	111.0	117.0					12																	993869		2203	4300	6503	SO:0001583	missense	65125			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.3899C>G	12.37:g.993869C>G	ENSP00000313059:p.Ser1300Cys		A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	C	18.06	3.539442	0.65085	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908	T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000004	T	0.55162	0.1903	L	0.59436	1.845	0.50467	D	0.999871	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76575	0.988;0.98;0.956	T	0.54523	-0.8281	10	0.87932	D	0	-11.6714	19.9002	0.96983	0.0:1.0:0.0:0.0	.	1053;1053;1300	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	C	1053;1300;1560;473;1798;893	ENSP00000441972:S1053C;ENSP00000313059:S1300C;ENSP00000444465:S1560C;ENSP00000433548:S1798C;ENSP00000341292:S893C	ENSP00000252477:S473C	S	+	2	0	WNK1	864130	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.892000	0.75644	2.709000	0.92574	0.655000	0.94253	TCC		0.433	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1		NM_018979	
ZEB1	6935	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	31810616	31810616	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr10:31810616G>A	ENST00000320985.10	+	7	2463	c.2353G>A	c.(2353-2355)Gac>Aac	p.D785N	ZEB1_ENST00000560721.2_Missense_Mutation_p.D765N|ZEB1_ENST00000542815.3_Missense_Mutation_p.D718N|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000446923.2_Missense_Mutation_p.D769N|ZEB1_ENST00000361642.5_Missense_Mutation_p.D786N			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	785					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.D785N(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TTGTGTTACAGACTCAGAACC	0.443																																					Ovarian(40;423 959 14296 36701 49589)												1	Substitution - Missense(1)	kidney(1)											138.0	116.0	123.0					10																	31810616		2203	4300	6503	SO:0001583	missense	6935			AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.2353G>A	10.37:g.31810616G>A	ENSP00000319248:p.Asp785Asn		B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	37	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	G	8.583	0.882767	0.17467	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000543514;ENST00000446923	T;T;T;T;T	0.11385	3.08;2.78;2.82;2.78;2.83	5.3	5.3	0.74995	.	0.414459	0.22819	N	0.055243	T	0.18923	0.0454	L	0.57536	1.79	0.44668	D	0.997656	P;P;P;P;P;B;P;P	0.49961	0.93;0.763;0.799;0.651;0.799;0.235;0.799;0.651	P;B;B;B;B;B;B;B	0.52909	0.713;0.382;0.318;0.212;0.255;0.08;0.318;0.212	T	0.01982	-1.1235	10	0.15066	T	0.55	-22.6826	12.6488	0.56749	0.0758:0.0:0.9242:0.0	.	718;785;769;785;785;765;786;785	F5H4I8;F5H1R1;E9PCM7;B2RBI8;A0JLS9;Q5VZ84;Q2KJ05;P37275	.;.;.;.;.;.;.;ZEB1_HUMAN	N	567;785;786;780;718;785;765;676;769	ENSP00000444282:D567N;ENSP00000354487:D786N;ENSP00000444891:D718N;ENSP00000319248:D785N;ENSP00000391612:D769N	ENSP00000319248:D785N	D	+	1	0	ZEB1	31850622	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.410000	0.59774	2.633000	0.89246	0.650000	0.86243	GAC		0.443	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2		NM_030751	
ZFP91	80829	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	58377371	58377371	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr11:58377371A>G	ENST00000316059.6	+	3	610	c.439A>G	c.(439-441)Aga>Gga	p.R147G	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.R147G	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	147					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein K63-linked ubiquitination (GO:0070534)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)	p.R147G(2)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				TGCTGCATCTAGACCTAGCCG	0.478																																																	2	Substitution - Missense(2)	kidney(2)											127.0	124.0	125.0					11																	58377371		2201	4295	6496	SO:0001583	missense	80829			AB056107	CCDS31553.1	11q12	2012-11-27	2012-11-27		ENSG00000186660	ENSG00000186660		"""Zinc fingers, C2H2-type"""	14983	protein-coding gene	gene with protein product			"""zinc finger protein homologous to Zfp91 in mouse"", ""zinc finger protein 91 homolog (mouse)"""			12738986, 20682767	Standard	NM_053023		Approved	PZF, ZNF757	uc001nmx.4	Q96JP5	OTTHUMG00000137391	ENST00000316059.6:c.439A>G	11.37:g.58377371A>G	ENSP00000339030:p.Arg147Gly		A6NHC4|A8MSG7|Q86V47|Q96JP4|Q96QA3	Missense_Mutation	SNP	ENST00000316059.6	37	CCDS31553.1	.	.	.	.	.	.	.	.	.	.	A	18.39	3.613306	0.66672	.	.	ENSG00000186660	ENST00000316059;ENST00000389918	T	0.28255	1.62	5.53	0.123	0.14709	.	2.201380	0.01915	N	0.040136	T	0.27900	0.0687	N	0.24115	0.695	0.20489	N	0.999894	B;B	0.25609	0.13;0.079	B;B	0.27715	0.082;0.037	T	0.46555	-0.9183	10	0.72032	D	0.01	-12.162	13.4777	0.61318	0.4702:0.5298:0.0:0.0	.	147;147	Q96JP5-2;Q96JP5	.;ZFP91_HUMAN	G	147	ENSP00000339030:R147G	ENSP00000374569:R147G	R	+	1	2	ZFP91	58133947	0.002000	0.14202	0.149000	0.22428	0.986000	0.74619	-0.179000	0.09768	0.128000	0.18479	0.533000	0.62120	AGA		0.478	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268674.1		NM_053023	
ZNF276	92822	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	89789584	89789584	+	Silent	SNP	G	G	A			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr16:89789584G>A	ENST00000443381.2	+	3	646	c.549G>A	c.(547-549)gcG>gcA	p.A183A	ZNF276_ENST00000289816.5_Silent_p.A108A|VPS9D1_ENST00000389386.3_5'Flank|ZNF276_ENST00000568064.1_Silent_p.A108A|ZNF276_ENST00000446326.2_5'UTR	NM_001113525.1	NP_001106997.1	Q8N554	ZN276_HUMAN	zinc finger protein 276	183					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.A108A(1)|p.A183A(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		AGGAGGGAGCGTGTCTGGGTG	0.637																																																	2	Substitution - coding silent(2)	kidney(2)											56.0	55.0	55.0					16																	89789584		2198	4300	6498	SO:0001819	synonymous_variant	92822			AK026482	CCDS10986.1, CCDS45554.1	16q24.3	2014-02-17	2006-02-10	2006-02-10	ENSG00000158805	ENSG00000158805		"""Zinc fingers, C2H2-type"""	23330	protein-coding gene	gene with protein product	"""centromere protein Z"", ""zinc finger, AD-type"""	608460	"""zinc finger protein 276 homolog (mouse)"""	ZFP276		10936049, 20813266	Standard	NM_152287		Approved	MGC45417, ZNF477, CENPZ, CENP-Z, ZADT	uc002fos.4	Q8N554	OTTHUMG00000138050	ENST00000443381.2:c.549G>A	16.37:g.89789584G>A			Q0VGA1|Q2TBE8|Q3B7H7	Silent	SNP	ENST00000443381.2	37	CCDS45554.1																																																																																				0.637	ZNF276-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422517.1		NM_152287	
ZNF280C	55609	hgsc.bcm.edu;ucsc.edu	37	X	129354384	129354384	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chrX:129354384delT	ENST00000370978.4	-	13	1619	c.1466delA	c.(1465-1467)aagfs	p.K489fs		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	489					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						ATGCTGCGCCTTATGTTCAGC	0.378																																																	0													141.0	127.0	132.0					X																	129354384		2203	4300	6503	SO:0001589	frameshift_variant	55609			AL834333	CCDS14622.1	Xq25	2008-05-02	2007-09-20	2007-09-20	ENSG00000056277	ENSG00000056277			25955	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 3 (Drosophila)"""	SUHW3		12477932	Standard	NM_017666		Approved	FLJ20095, ZNF633	uc004evm.3	Q8ND82	OTTHUMG00000022393	ENST00000370978.4:c.1466delA	X.37:g.129354384delT	ENSP00000360017:p.Lys489fs		A8K2V8|Q9NXR3	Frame_Shift_Del	DEL	ENST00000370978.4	37	CCDS14622.1																																																																																				0.378	ZNF280C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058251.1		NM_017666	
ZNF318	24149	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	43305844	43305844	+	Silent	SNP	C	C	T			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr6:43305844C>T	ENST00000361428.2	-	10	5969	c.5892G>A	c.(5890-5892)aaG>aaA	p.K1964K	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1964					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.K1964K(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TCTCTGGCCTCTTCTTGTTTT	0.428																																																	1	Substitution - coding silent(1)	kidney(1)											101.0	103.0	102.0					6																	43305844		2203	4300	6503	SO:0001819	synonymous_variant	24149			AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.5892G>A	6.37:g.43305844C>T			O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Silent	SNP	ENST00000361428.2	37	CCDS4895.2																																																																																				0.428	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2		NM_014345	
ZNF3	7551	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	99669413	99669413	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr7:99669413C>T	ENST00000424697.1	-	6	1000	c.694G>A	c.(694-696)Gag>Aag	p.E232K	ZNF3_ENST00000299667.4_Missense_Mutation_p.E232K|ZNF3_ENST00000303915.6_Missense_Mutation_p.E232K|ZNF3_ENST00000413658.2_Intron	NM_001278284.1|NM_001278287.1|NM_001278290.1|NM_001278291.1|NM_001278292.1|NM_032924.3	NP_001265213.1|NP_001265216.1|NP_001265219.1|NP_001265220.1|NP_001265221.1|NP_116313.3	P17036	ZNF3_HUMAN	zinc finger protein 3	232					cell differentiation (GO:0030154)|leukocyte activation (GO:0045321)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)	p.E232K(1)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			TTCCCACACTCATTACATTCA	0.433																																																	1	Substitution - Missense(1)	kidney(1)											76.0	85.0	82.0					7																	99669413		2203	4300	6503	SO:0001583	missense	7551			AF027136	CCDS43618.1, CCDS43619.1	7q22.1	2013-01-08	2006-05-05					"""Zinc fingers, C2H2-type"", ""-"""	13089	protein-coding gene	gene with protein product		194510	"""zinc finger protein 3 (A8-51)"""				Standard	NM_032924		Approved	A8-51, KOX25, PP838, FLJ20216, HF.12, Zfp113	uc003usr.4	P17036		ENST00000424697.1:c.694G>A	7.37:g.99669413C>T	ENSP00000415358:p.Glu232Lys		D6W5U0|P13683|Q9HBR4|Q9NNX8|Q9NXJ1|Q9UC15|Q9UC16	Missense_Mutation	SNP	ENST00000424697.1	37	CCDS43619.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.252671	0.59212	.	.	ENSG00000166526	ENST00000424697;ENST00000303915;ENST00000299667	T;T;T	0.07327	3.2;3.2;3.2	4.6	4.6	0.57074	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.53938	D	0.000049	T	0.16769	0.0403	L	0.28344	0.845	0.09310	N	1	D;D	0.56746	0.962;0.977	P;D	0.65684	0.702;0.937	T	0.02214	-1.1194	10	0.87932	D	0	-25.5551	15.3141	0.74059	0.0:1.0:0.0:0.0	.	215;232	B3KRP4;P17036	.;ZNF3_HUMAN	K	232	ENSP00000415358:E232K;ENSP00000306372:E232K;ENSP00000299667:E232K	ENSP00000299667:E232K	E	-	1	0	ZNF3	99507349	0.002000	0.14202	0.990000	0.47175	0.993000	0.82548	0.506000	0.22658	2.568000	0.86640	0.655000	0.94253	GAG		0.433	ZNF3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336247.3		NM_017715	
ZNF513	130557	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	27601531	27601531	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr2:27601531G>A	ENST00000323703.6	-	3	800	c.602C>T	c.(601-603)aCt>aTt	p.T201I	ZNF513_ENST00000407879.1_Missense_Mutation_p.T139I|ZNF513_ENST00000491924.1_Intron	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	201					regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)	p.T201I(2)		endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTCTCGCCAGTGTGGGTGCG	0.667																																																	2	Substitution - Missense(2)	kidney(1)|endometrium(1)											144.0	114.0	124.0					2																	27601531		2203	4300	6503	SO:0001583	missense	130557			AL833946	CCDS1751.1, CCDS56114.1	2p23.3	2014-01-28			ENSG00000163795	ENSG00000163795		"""Zinc fingers, C2H2-type"""	26498	protein-coding gene	gene with protein product		613598				12477932	Standard	NM_001201459		Approved	FLJ32203, RP58	uc002rkk.3	Q8N8E2	OTTHUMG00000097783	ENST00000323703.6:c.602C>T	2.37:g.27601531G>A	ENSP00000318373:p.Thr201Ile		A8K3S5|B7WP71|Q3ZCU1|Q68CJ1|Q86UZ3|Q8NDL8|Q96ML3	Missense_Mutation	SNP	ENST00000323703.6	37	CCDS1751.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.175761	0.57692	.	.	ENSG00000163795	ENST00000323703;ENST00000407879	T;T	0.25749	1.78;1.78	4.76	4.76	0.60689	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.53938	D	0.000057	T	0.52141	0.1716	M	0.74546	2.27	0.51233	D	0.999918	D	0.89917	1.0	D	0.91635	0.999	T	0.56619	-0.7949	10	0.72032	D	0.01	-9.4038	16.5112	0.84286	0.0:0.0:1.0:0.0	.	201	Q8N8E2	ZN513_HUMAN	I	201;139	ENSP00000318373:T201I;ENSP00000384874:T139I	ENSP00000318373:T201I	T	-	2	0	ZNF513	27455035	1.000000	0.71417	1.000000	0.80357	0.514000	0.34195	7.640000	0.83355	2.472000	0.83506	0.655000	0.94253	ACT		0.667	ZNF513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215026.2		NM_144631	
ZNF609	23060	hgsc.bcm.edu;ucsc.edu	37	15	64967277	64967280	+	Frame_Shift_Del	DEL	GAAA	GAAA	-			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	GAAA	GAAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr15:64967277_64967280delGAAA	ENST00000326648.3	+	4	2352_2355	c.2224_2227delGAAA	c.(2224-2229)gaaagtfs	p.ES742fs		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	742						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAAGGAACTTGAAAGTCCTCTGAC	0.471																																																	0																																										SO:0001589	frameshift_variant	23060			BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.2224_2227delGAAA	15.37:g.64967277_64967280delGAAA	ENSP00000316527:p.Glu742fs		Q0D2I2	Frame_Shift_Del	DEL	ENST00000326648.3	37	CCDS32270.1																																																																																				0.471	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1		XM_042833	
ZNF653	115950	broad.mit.edu;hgsc.bcm.edu	37	19	11597661	11597661	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr19:11597661C>A	ENST00000293771.5	-	6	1514	c.1378G>T	c.(1378-1380)Gct>Tct	p.A460S	CTC-398G3.6_ENST00000585656.1_Intron	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653	460					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A460S(1)		endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						AGGCCGTCAGCATCCATCACC	0.701																																					Pancreas(83;980 1446 4542 6441 43352)												1	Substitution - Missense(1)	kidney(1)											40.0	30.0	34.0					19																	11597661		2203	4300	6503	SO:0001583	missense	115950			AY072704	CCDS12261.1	19p13.2	2013-01-08						"""Zinc fingers, C2H2-type"""	25196	protein-coding gene	gene with protein product		611371				12477932	Standard	NM_138783		Approved	Zip67	uc002mrz.2	Q96CK0		ENST00000293771.5:c.1378G>T	19.37:g.11597661C>A	ENSP00000293771:p.Ala460Ser		Q96AS7	Missense_Mutation	SNP	ENST00000293771.5	37	CCDS12261.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.781558	0.70222	.	.	ENSG00000161914	ENST00000293771	T	0.10860	2.83	5.54	5.54	0.83059	.	0.196433	0.41500	D	0.000862	T	0.10121	0.0248	N	0.24115	0.695	0.47621	D	0.999478	P	0.52842	0.956	B	0.41764	0.366	T	0.09015	-1.0694	10	0.41790	T	0.15	-25.9758	18.2618	0.90038	0.0:1.0:0.0:0.0	.	460	Q96CK0	ZN653_HUMAN	S	460	ENSP00000293771:A460S	ENSP00000293771:A460S	A	-	1	0	ZNF653	11458661	0.999000	0.42202	0.729000	0.30791	0.383000	0.30230	4.333000	0.59285	2.622000	0.88805	0.555000	0.69702	GCT		0.701	ZNF653-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458836.2		NM_138783	
PI4KB	5298	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	151263418	151263418	+	IGR	SNP	C	C	A			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr1:151263418C>A	ENST00000368873.1	-	0	3340				ZNF687_ENST00000368879.2_3'UTR			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta						phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.S1149S(1)		breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCCCTGGCTCCCTGAGCCGAC	0.622																																					Colon(154;765 1838 9854 28443 37492)												1	Substitution - coding silent(1)	kidney(1)											77.0	68.0	71.0					1																	151263418		2203	4300	6503	SO:0001628	intergenic_variant	57592			AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348		1.37:g.151263418C>A			B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Silent	SNP	ENST00000368873.1	37																																																																																					0.622	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3		NM_002651	
ZNF780A	284323	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	40582092	40582092	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr19:40582092T>C	ENST00000595687.2	-	6	466	c.257A>G	c.(256-258)gAg>gGg	p.E86G	ZNF780A_ENST00000455521.1_Missense_Mutation_p.E87G|ZNF780A_ENST00000450241.2_Missense_Mutation_p.E52G|ZNF780A_ENST00000414720.2_Missense_Mutation_p.E102G|ZNF780A_ENST00000340963.5_Missense_Mutation_p.E86G|ZNF780A_ENST00000594395.1_Missense_Mutation_p.E87G|AC005614.5_ENST00000595508.1_RNA	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	86					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)	p.E87G(1)|p.E52G(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AGATACTTTCTCAGGTCCATA	0.323																																																	2	Substitution - Missense(2)	kidney(2)											47.0	47.0	47.0					19																	40582092		2179	4285	6464	SO:0001583	missense	284323			AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"""Zinc fingers, C2H2-type"", ""-"""	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.257A>G	19.37:g.40582092T>C	ENSP00000472189:p.Glu86Gly		E9PB48|Q6ZN87	Missense_Mutation	SNP	ENST00000595687.2	37	CCDS33026.2	.	.	.	.	.	.	.	.	.	.	T	11.92	1.783077	0.31593	.	.	ENSG00000197782	ENST00000443072;ENST00000450241;ENST00000414720;ENST00000455521;ENST00000340963	T;T;T	0.06528	5.99;3.29;3.31	1.7	0.626	0.17670	.	.	.	.	.	T	0.04907	0.0132	L	0.28649	0.875	0.09310	N	1	P;P;B	0.51791	0.948;0.888;0.124	B;B;B	0.43889	0.354;0.435;0.031	T	0.37842	-0.9688	9	0.45353	T	0.12	.	2.9949	0.05995	0.0:0.2712:0.0:0.7288	.	87;86;102	E9PB48;O75290;O75290-2	.;Z780A_HUMAN;.	G	86;86;102;87;86	ENSP00000416294:E102G;ENSP00000400997:E87G;ENSP00000341507:E86G	ENSP00000341507:E86G	E	-	2	0	ZNF780A	45273932	0.001000	0.12720	0.006000	0.13384	0.714000	0.41099	0.827000	0.27421	0.754000	0.32968	0.254000	0.18369	GAG		0.323	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1		NM_001010880	
VHL	7428	hgsc.bcm.edu	37	3	10183840	10183844	+	Frame_Shift_Del	DEL	TGGCA	TGGCA	-			TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	TGGCA	TGGCA	TGGCA	-	TGGCA	TGGCA	Unknown	Valid	Somatic	Phase_I	WXS	PGM	.		Illumina HiSeq	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr3:10183840_10183844delTGGCA	ENST00000256474.2	+	1	1149_1153	c.309_313delTGGCA	c.(307-315)cctggcacgfs	p.GT104fs	VHL_ENST00000345392.2_Frame_Shift_Del_p.GT104fs|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	104	Involved in binding to CCT complex.		G -> A (in cerebellar hemangioblastoma). {ECO:0000269|PubMed:9829912}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.G104fs*55(6)|p.G104fs*23(2)|p.P103fs*27(1)|p.G104fs*22(1)|p.G104fs*52(1)|p.P102fs*27(1)|p.T105P(1)|p.T100_G106>S(1)|p.Y98fs*27(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CGCTGCCGCCTGGCACGGGCCGCCG	0.698		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													.	yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	15	Deletion - Frameshift(13)|Substitution - Missense(1)|Complex - deletion inframe(1)	kidney(15)	GRCh37	CD941808|CM023995|CM057218|CM982003|HD971483	VHL	D|M																																				SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.309_313delTGGCA	3.37:g.10183840_10183844delTGGCA	ENSP00000256474:p.Gly104fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.698	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
PTEN	5728	broad.mit.edu	37	10	89720741	89720741	+	Nonsense_Mutation	SNP	C	C	T	rs371387815		TCGA-BP-5199-01A-01D-1429-08	TCGA-BP-5199-11A-01D-1429-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM	.		Illumina GAIIx	135f3b77-1474-40d8-87a1-15939136e8cd	59dfbb69-0053-4341-9383-650705585dae	g.chr10:89720741C>T	ENST00000371953.3	+	8	2249	c.892C>T	c.(892-894)Caa>Taa	p.Q298*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	298	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.Q298*(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.Q298fs*9(1)|p.W274_F341del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TCTATGTGATCAAGAAATCGA	0.323		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												.	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	56	Whole gene deletion(37)|Deletion - Frameshift(10)|Substitution - Nonsense(5)|Deletion - In frame(2)|Unknown(2)	prostate(16)|central_nervous_system(12)|skin(6)|endometrium(5)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)|kidney(1)											90.0	89.0	89.0					10																	89720741		2203	4299	6502	SO:0001587	stop_gained	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.892C>T	10.37:g.89720741C>T	ENSP00000361021:p.Gln298*		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	48	14.327844	0.99790	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.13	5.13	0.70059	.	0.221302	0.47093	D	0.000259	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.289	18.5632	0.91108	0.0:1.0:0.0:0.0	.	.	.	.	X	298	.	.	Q	+	1	0	PTEN	89710721	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.216000	0.51176	2.399000	0.81585	0.591000	0.81541	CAA		0.323	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1		NM_000314	
