#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
ADORA2A	135	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	24829496	24829496	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr22:24829496delA	ENST00000337539.7	+	2	583	c.124delA	c.(124-126)aacfs	p.N42fs	ADORA2A-AS1_ENST00000326341.4_RNA|SPECC1L-ADORA2A_ENST00000358654.2_3'UTR|ADORA2A-AS1_ENST00000543438.1_RNA|ADORA2A_ENST00000496497.1_Intron	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN	adenosine A2a receptor	42					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cAMP biosynthetic process (GO:0006171)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|central nervous system development (GO:0007417)|inflammatory response (GO:0006954)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phagocytosis (GO:0006909)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|sensory perception (GO:0007600)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|G-protein coupled adenosine receptor activity (GO:0001609)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Adenosine(DB00640)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Mefloquine(DB00358)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Regadenoson(DB06213)|Theobromine(DB01412)|Theophylline(DB00277)	GAACGTCACCAACTACTTTGT	0.617																																																	0													171.0	109.0	130.0					22																	24829496		2203	4300	6503	SO:0001589	frameshift_variant	135			X68486	CCDS13826.1	22q11.23	2012-08-08			ENSG00000128271	ENSG00000128271		"""GPCR / Class A : Adenosine receptors"""	263	protein-coding gene	gene with protein product		102776		ADORA2		1662665, 2541503	Standard	NM_001278497		Approved	RDC8	uc002zzy.4	P29274	OTTHUMG00000150761	ENST00000337539.7:c.124delA	22.37:g.24829496delA	ENSP00000336630:p.Asn42fs		B2R7E0	Frame_Shift_Del	DEL	ENST00000337539.7	37	CCDS13826.1																																																																																				0.617	ADORA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319971.2		NM_000675	
ADRBK2	157	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	26114290	26114290	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr22:26114290G>T	ENST00000324198.6	+	19	1925	c.1733G>T	c.(1732-1734)cGt>cTt	p.R578L		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	578	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				receptor internalization (GO:0031623)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)		ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)	p.R578L(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	CAGTGGCAGCGTCGCTATTTT	0.483																																																	1	Substitution - Missense(1)	kidney(1)											126.0	125.0	125.0					22																	26114290		2203	4300	6503	SO:0001583	missense	157			X69117	CCDS13832.1	22q11	2013-01-10			ENSG00000100077	ENSG00000100077		"""Pleckstrin homology (PH) domain containing"""	290	protein-coding gene	gene with protein product		109636				7695743	Standard	NM_005160		Approved	GRK3, BARK2	uc003abx.4	P35626	OTTHUMG00000150280	ENST00000324198.6:c.1733G>T	22.37:g.26114290G>T	ENSP00000317578:p.Arg578Leu		Q9UGW9	Missense_Mutation	SNP	ENST00000324198.6	37	CCDS13832.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.370886	0.82573	.	.	ENSG00000100077	ENST00000324198	T	0.76709	-1.04	5.3	5.3	0.74995	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.72669	0.3489	L	0.34521	1.04	0.80722	D	1	P	0.40211	0.707	B	0.40565	0.333	T	0.76451	-0.2954	10	0.66056	D	0.02	-11.4691	18.3039	0.90174	0.0:0.0:1.0:0.0	.	578	P35626	ARBK2_HUMAN	L	578	ENSP00000317578:R578L	ENSP00000317578:R578L	R	+	2	0	ADRBK2	24444290	1.000000	0.71417	0.951000	0.38953	0.988000	0.76386	8.820000	0.92003	2.635000	0.89317	0.655000	0.94253	CGT		0.483	ADRBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317296.4		NM_005160	
AMELX	265	broad.mit.edu	37	X	11316960	11316960	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chrX:11316960T>C	ENST00000380714.3	+	5	505	c.437T>C	c.(436-438)gTg>gCg	p.V146A	ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000413512.3_Intron|ARHGAP6_ENST00000337414.4_Intron|AMELX_ENST00000380712.3_Missense_Mutation_p.V160A|ARHGAP6_ENST00000380736.1_Intron|AMELX_ENST00000348912.4_Missense_Mutation_p.V130A|ARHGAP6_ENST00000380732.3_Intron	NM_001142.2	NP_001133.1	Q99217	AMELX_HUMAN	amelogenin, X-linked	146					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|enamel mineralization (GO:0070166)|epithelial to mesenchymal transition (GO:0001837)|ion homeostasis (GO:0050801)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of tooth mineralization (GO:0070172)|signal transduction (GO:0007165)|tooth mineralization (GO:0034505)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|hydroxyapatite binding (GO:0046848)|identical protein binding (GO:0042802)|structural constituent of tooth enamel (GO:0030345)	p.V160A(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						CAGCCACCTGTGCACCCCATG	0.667																																																	1	Substitution - Missense(1)	kidney(1)											59.0	50.0	53.0					X																	11316960		2203	4300	6503	SO:0001583	missense	265				CCDS14144.1, CCDS14145.1, CCDS14146.1	Xp22.31-p22.1	2010-04-20	2010-04-20		ENSG00000125363	ENSG00000125363			461	protein-coding gene	gene with protein product	"""amelogenesis imperfecta 1"""	300391	"""amelogenin (X chromosome, amelogenesis imperfecta 1)"""	AMG, AIH1		1734713	Standard	NM_182680		Approved		uc004cus.3	Q99217	OTTHUMG00000021130	ENST00000380714.3:c.437T>C	X.37:g.11316960T>C	ENSP00000370090:p.Val146Ala		Q96NW6|Q9UCA7	Missense_Mutation	SNP	ENST00000380714.3	37	CCDS14144.1	.	.	.	.	.	.	.	.	.	.	T	2.777	-0.254467	0.05829	.	.	ENSG00000125363	ENST00000380714;ENST00000380712;ENST00000348912	D;D;D	0.89270	-2.49;-2.49;-2.49	4.79	3.62	0.41486	.	0.631229	0.14503	N	0.315591	T	0.80160	0.4572	L	0.54323	1.7	0.20074	N	0.999936	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.62129	-0.6919	10	0.06236	T	0.91	2.5312	1.2421	0.01965	0.1836:0.1036:0.1872:0.5256	.	130;146;160	Q99217-2;Q99217;Q99217-3	.;AMELX_HUMAN;.	A	146;160;130	ENSP00000370090:V146A;ENSP00000370088:V160A;ENSP00000335312:V130A	ENSP00000335312:V130A	V	+	2	0	AMELX	11226881	0.618000	0.27051	0.845000	0.33349	0.962000	0.63368	0.826000	0.27407	1.712000	0.51347	0.339000	0.21740	GTG		0.667	AMELX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055746.1		NM_001142	
ANK3	288	hgsc.bcm.edu;ucsc.edu	37	10	61831858	61831858	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr10:61831858delT	ENST00000280772.2	-	37	8972	c.8781delA	c.(8779-8781)aaafs	p.K2927fs	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2927					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TATATAAGACTTTTTTGGAGG	0.423																																																	0													53.0	54.0	54.0					10																	61831858		2203	4300	6503	SO:0001589	frameshift_variant	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.8781delA	10.37:g.61831858delT	ENSP00000280772:p.Lys2927fs		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Frame_Shift_Del	DEL	ENST00000280772.2	37	CCDS7258.1																																																																																				0.423	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4		NM_020987	
ANKRD36	375248	hgsc.bcm.edu	37	2	97883055	97883055	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr2:97883055delG	ENST00000461153.2	+	64	4043	c.3799delG	c.(3799-3801)gttfs	p.V1267fs	ANKRD36_ENST00000420699.2_Frame_Shift_Del_p.V1267fs			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	1267										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						TAAAAAGAAAGTTTCTCTTTT	0.274																																																	0													66.0	56.0	59.0					2																	97883055		692	1591	2283	SO:0001589	frameshift_variant	375248			BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.3799delG	2.37:g.97883055delG	ENSP00000419530:p.Val1267fs		B4E3I8|Q6UX02|Q86X62|Q9HCD1	Frame_Shift_Del	DEL	ENST00000461153.2	37	CCDS54379.1																																																																																				0.274	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			
ANKRD50	57182	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	125631530	125631530	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr4:125631530C>G	ENST00000504087.1	-	2	1174	c.137G>C	c.(136-138)aGt>aCt	p.S46T	ANKRD50_ENST00000515641.1_Intron	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	46								p.S46T(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						ATTGACAGCACTATTGCAGCA	0.483																																																	1	Substitution - Missense(1)	kidney(1)											99.0	97.0	98.0					4																	125631530		2203	4300	6503	SO:0001583	missense	57182			AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.137G>C	4.37:g.125631530C>G	ENSP00000425658:p.Ser46Thr		A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.939784	0.34189	.	.	ENSG00000151458	ENST00000504087	T	0.17213	2.29	5.23	5.23	0.72850	.	0.000000	0.64402	D	0.000001	T	0.16471	0.0396	L	0.29908	0.895	0.43226	D	0.995119	B	0.11235	0.004	B	0.12156	0.007	T	0.03306	-1.1050	10	0.45353	T	0.12	.	18.9826	0.92760	0.0:1.0:0.0:0.0	.	46	Q9ULJ7	ANR50_HUMAN	T	46	ENSP00000425658:S46T	ENSP00000425658:S46T	S	-	2	0	ANKRD50	125850980	0.963000	0.33076	0.490000	0.27465	0.974000	0.67602	1.104000	0.31074	2.721000	0.93114	0.561000	0.74099	AGT		0.483	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1		NM_020337	
ARSE	415	broad.mit.edu	37	X	2856294	2856294	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chrX:2856294delC	ENST00000381134.3	-	9	1197	c.1131delG	c.(1129-1131)gggfs	p.G377fs	ARSE_ENST00000540563.1_Frame_Shift_Del_p.G332fs|ARSE_ENST00000545496.1_Frame_Shift_Del_p.G402fs	NM_000047.2	NP_000038.2	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	377					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCATGCCCTTCCCACCTGGGT	0.547																																																	0													21.0	22.0	22.0					X																	2856294		2199	4295	6494	SO:0001589	frameshift_variant	415			X83573	CCDS14122.1, CCDS75948.1, CCDS75949.1	Xp22.33	2013-02-14			ENSG00000157399	ENSG00000157399		"""Arylsulfatase family"""	719	protein-coding gene	gene with protein product		300180		CDPX, CDPX1		7720070	Standard	NM_000047		Approved		uc004crc.4	P51690	OTTHUMG00000137358	ENST00000381134.3:c.1131delG	X.37:g.2856294delC	ENSP00000370526:p.Gly377fs		Q53FT2|Q53FU8	Frame_Shift_Del	DEL	ENST00000381134.3	37	CCDS14122.1																																																																																				0.547	ARSE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055643.1		NM_000047	
ATF4	468	hgsc.bcm.edu	37	22	39917950	39917951	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr22:39917950_39917951insC	ENST00000337304.2	+	2	1281_1282	c.399_400insC	c.(400-402)cccfs	p.P134fs	ATF4_ENST00000396680.1_Frame_Shift_Ins_p.P134fs|ATF4_ENST00000404241.2_Frame_Shift_Ins_p.P134fs	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	134					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular amino acid metabolic process (GO:0006520)|cellular protein metabolic process (GO:0044267)|circadian regulation of gene expression (GO:0032922)|endoplasmic reticulum unfolded protein response (GO:0030968)|gamma-aminobutyric acid signaling pathway (GO:0007214)|gluconeogenesis (GO:0006094)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990440)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to endoplasmic reticulum stress (GO:0034976)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|Lewy body core (GO:1990037)|neuron projection (GO:0043005)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)				Pseudoephedrine(DB00852)	CTAATAAGCAGCCCCCCCAGAC	0.525																																																	0																																										SO:0001589	frameshift_variant	468			D90209	CCDS13996.1	22q13.1	2013-05-23	2013-05-23		ENSG00000128272	ENSG00000128272		"""basic leucine zipper proteins"""	786	protein-coding gene	gene with protein product	"""tax-responsive enhancer element B67"""	604064	"""activating transcription factor 4 (tax-responsive enhancer element B67)"""	TXREB		1847461, 1534408	Standard	NM_182810		Approved	TAXREB67, CREB-2	uc003axz.3	P18848	OTTHUMG00000151099	ENST00000337304.2:c.406dupC	22.37:g.39917957_39917957dupC	ENSP00000336790:p.Pro134fs		Q9UH31	Frame_Shift_Ins	INS	ENST00000337304.2	37	CCDS13996.1																																																																																				0.525	ATF4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321305.1		NM_001675	
ATRNL1	26033	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	116880014	116880014	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr10:116880014C>A	ENST00000355044.3	+	2	485	c.359C>A	c.(358-360)aCt>aAt	p.T120N	ATRNL1_ENST00000527407.1_Missense_Mutation_p.T120N|ATRNL1_ENST00000529665.1_3'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	120	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.T120N(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		ACTAAATGTACTTGGCTCATT	0.284																																																	1	Substitution - Missense(1)	kidney(1)											39.0	46.0	44.0					10																	116880014		2190	4244	6434	SO:0001583	missense	26033			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.359C>A	10.37:g.116880014C>A	ENSP00000347152:p.Thr120Asn		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.437993	0.83885	.	.	ENSG00000107518	ENST00000526946;ENST00000355044	T;T	0.53857	0.6;0.6	5.29	5.29	0.74685	CUB (5);	0.000000	0.85682	D	0.000000	T	0.70988	0.3287	L	0.60455	1.87	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.997;0.997	T	0.72798	-0.4184	10	0.72032	D	0.01	-7.1959	19.2874	0.94084	0.0:1.0:0.0:0.0	.	53;120;120	E9PL90;Q5VV63;Q5VV63-2	.;ATRN1_HUMAN;.	N	53;120	ENSP00000431423:T53N;ENSP00000347152:T120N	ENSP00000347152:T120N	T	+	2	0	ATRNL1	116870004	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.748000	0.85085	2.627000	0.88993	0.585000	0.79938	ACT		0.284	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3		XM_049349	
BAZ2B	29994	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	160194250	160194250	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr2:160194250C>A	ENST00000392783.2	-	32	5983	c.5488G>T	c.(5488-5490)Gag>Tag	p.E1830*	BAZ2B_ENST00000392782.1_Nonsense_Mutation_p.E1794*|BAZ2B_ENST00000355831.2_Nonsense_Mutation_p.E1796*|BAZ2B_ENST00000343439.5_Nonsense_Mutation_p.E1730*	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1830					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.E1830*(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						ACCAAGTCCTCCCTTTCTGAT	0.388																																																	1	Substitution - Nonsense(1)	kidney(1)											92.0	87.0	89.0					2																	160194250		1887	4118	6005	SO:0001587	stop_gained	29994			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.5488G>T	2.37:g.160194250C>A	ENSP00000376534:p.Glu1830*		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Nonsense_Mutation	SNP	ENST00000392783.2	37	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	C	47	13.461802	0.99743	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439;ENST00000426648	.	.	.	5.78	5.78	0.91487	.	0.000000	0.37348	U	0.002134	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-15.0306	20.0022	0.97423	0.0:1.0:0.0:0.0	.	.	.	.	X	1794;1830;1796;1730;48	.	ENSP00000339670:E1730X	E	-	1	0	BAZ2B	159902496	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.107000	0.57811	2.738000	0.93877	0.655000	0.94253	GAG		0.388	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			
BIN2	51411	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	51690950	51690950	+	Splice_Site	SNP	T	T	A			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr12:51690950T>A	ENST00000267012.4	-	8	664		c.e8-2		BIN2_ENST00000452142.2_Splice_Site|BIN2_ENST00000544402.1_Splice_Site|BIN2_ENST00000604560.1_Splice_Site	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2						cell chemotaxis (GO:0060326)|membrane tubulation (GO:0097320)|phagocytosis, engulfment (GO:0006911)|podosome assembly (GO:0071800)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|podosome (GO:0002102)	phospholipid binding (GO:0005543)	p.?(1)		NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						CCAATACGACTATTAGGAAGC	0.433																																																	1	Unknown(1)	kidney(1)											94.0	84.0	88.0					12																	51690950		2203	4300	6503	SO:0001630	splice_region_variant	51411			AF146531	CCDS8811.1	12q13.13	2012-01-23			ENSG00000110934	ENSG00000110934			1053	protein-coding gene	gene with protein product		605936				10903846	Standard	XM_005268957		Approved	BRAP-1	uc001ryg.3	Q9UBW5		ENST00000267012.4:c.603-2A>T	12.37:g.51690950T>A			Q86VV0|Q9NWK4|Q9UKN4	Splice_Site	SNP	ENST00000267012.4	37	CCDS8811.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.513438	0.85389	.	.	ENSG00000110934	ENST00000452142;ENST00000267012;ENST00000544402	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1476	0.65360	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	BIN2	49977217	1.000000	0.71417	0.987000	0.45799	0.983000	0.72400	7.454000	0.80714	2.237000	0.73441	0.460000	0.39030	.		0.433	BIN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000469800.1			Intron
PROSER3	148137	hgsc.bcm.edu	37	19	36258938	36258938	+	Frame_Shift_Del	DEL	G	G	-	rs398034467|rs5827939		TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr19:36258938delG	ENST00000544099.1	+	9	1254	c.1191delG	c.(1189-1191)cagfs	p.Q397fs	C19orf55_ENST00000396908.4_Splice_Site_p.Q397fs|AC002398.13_ENST00000589397.1_RNA			Q2NL68	PRSR3_HUMAN		326										cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGCTTGCCCAGGGCCGCCCTG	0.731													GG|GGG|GG|insertion	5008	1.0	1.0	1.0	5008	,	,		11178	1.0		1.0	False		,,,				2504	1.0																0													1.0	1.0	1.0					19																	36258938		567	1236	1803	SO:0001589	frameshift_variant	148137																														ENST00000544099.1:c.1191delG	19.37:g.36258938delG	ENSP00000467267:p.Gln397fs		Q8NDI3|Q8WWC8|Q96NL4	Frame_Shift_Del	DEL	ENST00000544099.1	37																																																																																					0.731	C19orf55-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000398160.2			
CFAP61	26074	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	20243669	20243669	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr20:20243669C>T	ENST00000245957.5	+	21	2474	c.2398C>T	c.(2398-2400)Cgg>Tgg	p.R800W	RP5-1096J16.1_ENST00000460400.1_RNA|C20orf26_ENST00000377293.1_Missense_Mutation_p.R156W|C20orf26_ENST00000377309.2_Missense_Mutation_p.R156W|C20orf26_ENST00000389656.3_Missense_Mutation_p.R156W	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		800								p.R800W(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CAGCAGTCAGCGGCGGTACAC	0.473																																																	1	Substitution - Missense(1)	kidney(1)											118.0	116.0	117.0					20																	20243669		2203	4300	6503	SO:0001583	missense	26074																														ENST00000245957.5:c.2398C>T	20.37:g.20243669C>T	ENSP00000245957:p.Arg800Trp		A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.919284	0.73098	.	.	ENSG00000089101	ENST00000343997;ENST00000377309;ENST00000389656;ENST00000389655;ENST00000245957;ENST00000377293	T;T;T;T	0.25579	1.79;1.79;1.79;1.79	5.06	4.1	0.47936	.	0.750411	0.13031	N	0.419344	T	0.29321	0.0730	N	0.24115	0.695	0.09310	N	1	D;D;D	0.71674	0.995;0.998;0.995	P;P;P	0.52856	0.711;0.711;0.648	T	0.15636	-1.0430	10	0.48119	T	0.1	.	14.7897	0.69830	0.1453:0.8547:0.0:0.0	.	780;156;800	F8W6K4;Q8NHU2-5;Q8NHU2	.;.;CT026_HUMAN	W	740;156;156;780;800;156	ENSP00000366524:R156W;ENSP00000374307:R156W;ENSP00000245957:R800W;ENSP00000366508:R156W	ENSP00000245957:R800W	R	+	1	2	C20orf26	20191669	0.000000	0.05858	0.002000	0.10522	0.031000	0.12232	0.801000	0.27055	1.324000	0.45282	0.655000	0.94253	CGG		0.473	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			
ERICH5	203111	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	99101674	99101674	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr8:99101674delA	ENST00000318528.3	+	2	788	c.429delA	c.(427-429)ctafs	p.L143fs	C8orf47_ENST00000545282.1_Intron	NM_173549.2	NP_775820.2	Q6P6B1	ERIC5_HUMAN		143										kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			CCGAGTCTCTAAAAGGAAATG	0.552																																																	0													66.0	67.0	67.0					8																	99101674		2203	4300	6503	SO:0001589	frameshift_variant	203111																														ENST00000318528.3:c.429delA	8.37:g.99101674delA	ENSP00000315614:p.Leu143fs		G3V1K4|Q8N1L8	Frame_Shift_Del	DEL	ENST00000318528.3	37	CCDS34929.1																																																																																				0.552	C8orf47-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380465.1			
CDK13	8621	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	40134281	40134281	+	Frame_Shift_Del	DEL	C	C	-	rs370641481		TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr7:40134281delC	ENST00000181839.4	+	14	4846	c.4241delC	c.(4240-4242)gctfs	p.A1414fs	CDK13_ENST00000340829.5_Frame_Shift_Del_p.A1354fs	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1414					alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						TACCTCAATGCTGGTCCCATG	0.483																																																	0													164.0	152.0	156.0					7																	40134281		2203	4300	6503	SO:0001589	frameshift_variant	8621			M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"""Cyclin-dependent kinases"""	1733	protein-coding gene	gene with protein product	"""cholinesterase-related cell division controller"""	603309	"""cell division cycle 2-like 5 (cholinesterase-related cell division controller)"""	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.4241delC	7.37:g.40134281delC	ENSP00000181839:p.Ala1414fs		Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Frame_Shift_Del	DEL	ENST00000181839.4	37	CCDS5461.1																																																																																				0.483	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2		NM_003718	
CDX2	1045	broad.mit.edu	37	13	28542702	28542703	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr13:28542702_28542703insG	ENST00000381020.7	-	1	2573_2574	c.441_442insC	c.(439-444)cccgccfs	p.A148fs	CDX2_ENST00000548877.1_5'Flank	NM_001265.4	NP_001256.3	Q99626	CDX2_HUMAN	caudal type homeobox 2	148					anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|endosome to lysosome transport (GO:0008333)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|labyrinthine layer development (GO:0060711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|large_intestine(1)|lung(6)	9	all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)		GCGGTGGCGGCGGGCCCAGGAG	0.743			T	ETV6	AML																																			Dom	yes		13	13q12.3	1045	caudal type homeo box transcription factor 2		L	0										67,3653		8,51,1801						-1.2	0.1			10	80,7208		9,62,3573	no	frameshift	CDX2	NM_001265.3		17,113,5374	A1A1,A1R,RR		1.0977,1.8011,1.3354				147,10861				SO:0001589	frameshift_variant	1045			Y13709	CCDS9328.1	13q12.2	2012-03-09	2007-07-09		ENSG00000165556	ENSG00000165556		"""Homeoboxes / ANTP class : HOXL subclass"""	1806	protein-coding gene	gene with protein product		600297	"""caudal type homeo box transcription factor 2"""	CDX3		7698771	Standard	NM_001265		Approved		uc001urv.4	Q99626	OTTHUMG00000016640	ENST00000381020.7:c.442dupC	13.37:g.28542705_28542705dupG	ENSP00000370408:p.Ala148fs		O00503|Q5VTU7|Q969L8|Q9UD92	Frame_Shift_Ins	INS	ENST00000381020.7	37	CCDS9328.1																																																																																				0.743	CDX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044312.5			
CEP97	79598	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	101476746	101476746	+	Silent	SNP	T	T	C			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr3:101476746T>C	ENST00000341893.3	+	9	2048	c.1296T>C	c.(1294-1296)gaT>gaC	p.D432D	CEP97_ENST00000494050.1_Silent_p.D373D|CEP97_ENST00000327230.4_Silent_p.D432D			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	432	CCP110-binding.				cell projection organization (GO:0030030)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)		p.D432D(2)		cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						GCCTAGAAGATGATGGTGTTG	0.463																																																	2	Substitution - coding silent(2)	kidney(2)											106.0	102.0	103.0					3																	101476746		2203	4300	6503	SO:0001819	synonymous_variant	79598			AL833269	CCDS2944.1	3q12.3	2014-02-20	2008-01-08	2008-01-08	ENSG00000182504	ENSG00000182504			26244	protein-coding gene	gene with protein product		615864	"""leucine-rich repeats and IQ motif containing 2"""	LRRIQ2		17719545, 18068367	Standard	NM_024548		Approved	FLJ23047	uc003dvk.1	Q8IW35	OTTHUMG00000159162	ENST00000341893.3:c.1296T>C	3.37:g.101476746T>C			B5MDY8|Q8NA71|Q9H5T9	Silent	SNP	ENST00000341893.3	37	CCDS2944.1																																																																																				0.463	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353597.2		NM_024548	
COL2A1	1280	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	48369167	48369167	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr12:48369167C>A	ENST00000380518.3	-	51	3983	c.3819G>T	c.(3817-3819)gaG>gaT	p.E1273D	COL2A1_ENST00000337299.6_Missense_Mutation_p.E1204D|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1273	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.E1273D(1)|p.E1204D(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TGCGGGAGCCCTCGGGGCTGC	0.632																																																	2	Substitution - Missense(2)	kidney(2)											68.0	66.0	66.0					12																	48369167		2203	4300	6503	SO:0001583	missense	1280			X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.3819G>T	12.37:g.48369167C>A	ENSP00000369889:p.Glu1273Asp		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	ENST00000380518.3	37	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	C	4.427	0.079020	0.08533	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	T;T	0.73363	-0.74;-0.74	4.62	1.7	0.24286	Fibrillar collagen, C-terminal (3);	0.207332	0.39475	N	0.001346	T	0.43299	0.1241	N	0.05383	-0.06	0.41016	D	0.985042	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.09773	-1.0659	10	0.09590	T	0.72	.	1.8657	0.03198	0.2788:0.4279:0.1357:0.1575	.	1204;1273	P02458-1;P02458	.;CO2A1_HUMAN	D	1273;1204;1204	ENSP00000369889:E1273D;ENSP00000338213:E1204D	ENSP00000338213:E1204D	E	-	3	2	COL2A1	46655434	0.001000	0.12720	0.999000	0.59377	0.997000	0.91878	-1.343000	0.02642	0.124000	0.18369	0.561000	0.74099	GAG		0.632	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2		NM_001844	
DPCR1	135656	broad.mit.edu;hgsc.bcm.edu	37	6	30917885	30917885	+	Silent	SNP	C	C	G			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr6:30917885C>G	ENST00000462446.1	+	2	1672	c.1644C>G	c.(1642-1644)gcC>gcG	p.A548A	HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_5'UTR			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	101						integral component of membrane (GO:0016021)		p.A548A(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						AAAGGACAGCCAATGAGAAGA	0.532																																																	1	Substitution - coding silent(1)	kidney(1)											55.0	64.0	61.0					6																	30917885		692	1591	2283	SO:0001819	synonymous_variant	135656			AB064272	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			ENSG00000168631	ENSG00000168631			21666	protein-coding gene	gene with protein product		613928				12185533, 10677310	Standard	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	Q3MIW9	OTTHUMG00000031104	ENST00000462446.1:c.1644C>G	6.37:g.30917885C>G			C9IZC0|Q658M7|Q8WYN2	Silent	SNP	ENST00000462446.1	37	CCDS4692.2																																																																																				0.532	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076173.3		NM_080870	
ELF1	1997	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	41515228	41515228	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr13:41515228G>A	ENST00000239882.3	-	8	1399	c.1085C>T	c.(1084-1086)gCa>gTa	p.A362V	ELF1_ENST00000442101.1_Missense_Mutation_p.A338V|ELF1_ENST00000498824.1_5'UTR	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	362					cell differentiation (GO:0030154)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine production (GO:0001817)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A362V(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		TGATGGTTGTGCAACTTCCAC	0.488																																																	1	Substitution - Missense(1)	kidney(1)											181.0	161.0	168.0					13																	41515228		2203	4300	6503	SO:0001583	missense	1997			M82882	CCDS9374.1	13q13	2008-07-18			ENSG00000120690	ENSG00000120690			3316	protein-coding gene	gene with protein product		189973				1545787	Standard	NM_001145353		Approved		uc001uxs.3	P32519	OTTHUMG00000016783	ENST00000239882.3:c.1085C>T	13.37:g.41515228G>A	ENSP00000239882:p.Ala362Val		B4E2I5|E9PDQ9|Q8N6F6|Q9UDE1	Missense_Mutation	SNP	ENST00000239882.3	37	CCDS9374.1	.	.	.	.	.	.	.	.	.	.	G	9.414	1.081222	0.20309	.	.	ENSG00000120690	ENST00000442101;ENST00000379498;ENST00000239882	T;T	0.20332	2.08;2.08	5.56	2.86	0.33363	.	0.903033	0.09603	N	0.779957	T	0.08358	0.0208	N	0.03608	-0.345	0.20821	N	0.999842	B;B	0.06786	0.0;0.001	B;B	0.06405	0.002;0.002	T	0.41945	-0.9480	10	0.14252	T	0.57	.	5.7506	0.18144	0.3003:0.139:0.5607:0.0	.	338;362	E9PDQ9;P32519	.;ELF1_HUMAN	V	338;104;362	ENSP00000405580:A338V;ENSP00000239882:A362V	ENSP00000239882:A362V	A	-	2	0	ELF1	40413228	0.004000	0.15560	0.887000	0.34795	0.431000	0.31685	0.387000	0.20718	0.377000	0.24735	-0.140000	0.14226	GCA		0.488	ELF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044654.3		NM_172373	
EPAS1	2034	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	46605874	46605874	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr2:46605874G>A	ENST00000263734.3	+	11	2032	c.1522G>A	c.(1522-1524)Gac>Aac	p.D508N		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	508	NTAD.				angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)	p.D508N(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			CTTCGCCATGGACACAGAGGC	0.537																																																	1	Substitution - Missense(1)	kidney(1)											138.0	129.0	132.0					2																	46605874		2203	4300	6503	SO:0001583	missense	2034			U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.1522G>A	2.37:g.46605874G>A	ENSP00000263734:p.Asp508Asn		Q86VA2|Q99630	Missense_Mutation	SNP	ENST00000263734.3	37	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	G	36	5.885811	0.97068	.	.	ENSG00000116016	ENST00000263734	T	0.56275	0.47	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.71459	0.3342	M	0.64170	1.965	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.72491	-0.4277	10	0.62326	D	0.03	.	19.4812	0.95011	0.0:0.0:1.0:0.0	.	508	Q99814	EPAS1_HUMAN	N	508	ENSP00000263734:D508N	ENSP00000263734:D508N	D	+	1	0	EPAS1	46459378	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	9.864000	0.99589	2.615000	0.88500	0.650000	0.86243	GAC		0.537	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2		NM_001430	
FAM166A	401565	broad.mit.edu	37	9	140140165	140140165	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr9:140140165T>C	ENST00000344774.4	-	2	251	c.197A>G	c.(196-198)gAg>gGg	p.E66G	FAM166A_ENST00000388932.2_Missense_Mutation_p.E66G	NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN	family with sequence similarity 166, member A	66						nucleus (GO:0005634)		p.E66G(1)		kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						GCTGAAGTCCTCAATGAACTT	0.617																																																	1	Substitution - Missense(1)	kidney(1)											52.0	56.0	55.0					9																	140140165		2203	4298	6501	SO:0001583	missense	401565			BC132916	CCDS35186.1	9q34.3	2008-08-08			ENSG00000188163	ENSG00000188163			33818	protein-coding gene	gene with protein product							Standard	XR_245332		Approved		uc004cmi.1	Q6J272	OTTHUMG00000159545	ENST00000344774.4:c.197A>G	9.37:g.140140165T>C	ENSP00000344729:p.Glu66Gly		A6NND9|Q8N830	Missense_Mutation	SNP	ENST00000344774.4	37	CCDS35186.1	.	.	.	.	.	.	.	.	.	.	T	18.73	3.685511	0.68157	.	.	ENSG00000188163	ENST00000344774;ENST00000388932;ENST00000484720	T;T;T	0.45668	0.89;0.89;0.89	5.1	3.97	0.46021	.	0.000000	0.64402	D	0.000001	T	0.43743	0.1261	L	0.56769	1.78	0.34846	D	0.741201	P	0.36909	0.573	P	0.44772	0.46	T	0.59177	-0.7503	10	0.62326	D	0.03	-44.0503	6.8437	0.23977	0.0:0.1784:0.0:0.8216	.	66	Q6J272	F166A_HUMAN	G	66	ENSP00000344729:E66G;ENSP00000373584:E66G;ENSP00000420741:E66G	ENSP00000344729:E66G	E	-	2	0	FAM166A	139259986	0.978000	0.34361	0.999000	0.59377	0.846000	0.48090	2.092000	0.41700	1.912000	0.55364	0.379000	0.24179	GAG		0.617	FAM166A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356125.1		NM_001001710	
FBN3	84467	broad.mit.edu;ucsc.edu	37	19	8201371	8201371	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr19:8201371T>G	ENST00000600128.1	-	11	1660	c.1246A>C	c.(1246-1248)Acc>Ccc	p.T416P	FBN3_ENST00000601739.1_Missense_Mutation_p.T416P|FBN3_ENST00000270509.2_Missense_Mutation_p.T416P			Q75N90	FBN3_HUMAN	fibrillin 3	416	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.T416P(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CACAGGTTGGTGAAGTGTCGG	0.647																																																	1	Substitution - Missense(1)	kidney(1)											121.0	104.0	110.0					19																	8201371		2203	4300	6503	SO:0001583	missense	84467				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.1246A>C	19.37:g.8201371T>G	ENSP00000470498:p.Thr416Pro		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	t	10.02	1.235077	0.22626	.	.	ENSG00000142449	ENST00000270509	T	0.28454	1.61	4.21	2.1	0.27182	Matrix fibril-associated (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	T	0.09202	0.0227	N	0.00869	-1.13	0.33539	D	0.594641	B	0.19331	0.035	B	0.23419	0.046	T	0.15780	-1.0425	10	0.25751	T	0.34	.	7.7856	0.29091	0.0:0.1753:0.0:0.8247	.	416	Q75N90	FBN3_HUMAN	P	416	ENSP00000270509:T416P	ENSP00000270509:T416P	T	-	1	0	FBN3	8107371	0.999000	0.42202	0.836000	0.33094	0.105000	0.19272	0.468000	0.22051	0.093000	0.17368	0.379000	0.24179	ACC		0.647	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2		NM_032447	
FNBP1L	54874	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	93987691	93987691	+	Splice_Site	SNP	C	C	T			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr1:93987691C>T	ENST00000271234.7	+	3	344	c.193C>T	c.(193-195)Cgg>Tgg	p.R65W	FNBP1L_ENST00000604705.1_Splice_Site_p.R65W|FNBP1L_ENST00000260506.8_Splice_Site_p.R65W|FNBP1L_ENST00000370253.2_Splice_Site_p.R65W|FNBP1L_ENST00000370256.4_Splice_Site_p.R65W	NM_001164473.2	NP_001157945.1	Q5T0N5	FBP1L_HUMAN	formin binding protein 1-like	65	F-BAR domain. {ECO:0000250}.|FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				autophagy (GO:0006914)|clathrin-mediated endocytosis (GO:0072583)|membrane budding (GO:0006900)|membrane invagination (GO:0010324)|membrane tubulation (GO:0097320)|positive regulation of filopodium assembly (GO:0051491)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.R65W(4)		breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		TGAAGAGCCACGGTAAATTAC	0.239																																																	4	Substitution - Missense(4)	kidney(4)											18.0	16.0	17.0					1																	93987691		1777	4039	5816	SO:0001630	splice_region_variant	54874				CCDS53343.1, CCDS53344.1, CCDS60192.1	1p22.1	2008-02-05	2004-11-16	2004-11-17	ENSG00000137942	ENSG00000137942			20851	protein-coding gene	gene with protein product		608848	"""chromosome 1 open reading frame 39"""	C1orf39		14654988	Standard	NM_017737		Approved	TOCA1, FLJ20275	uc010otk.2	Q5T0N5	OTTHUMG00000010863	ENST00000271234.7:c.194+1C>T	1.37:g.93987691C>T			J3QSS4|Q5T0N6|Q6B097|Q6P653|Q6R4Q4|Q9NXG1	Missense_Mutation	SNP	ENST00000271234.7	37	CCDS53343.1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.535899	0.64972	.	.	ENSG00000137942	ENST00000370256;ENST00000271234;ENST00000260506;ENST00000370253	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.47	4.35	0.52113	.	0.184649	0.51477	D	0.000093	T	0.42404	0.1201	M	0.65975	2.015	0.80722	D	1	D;D	0.58970	0.978;0.984	P;P	0.54100	0.618;0.742	T	0.47761	-0.9092	10	0.72032	D	0.01	-29.649	12.5175	0.56040	0.854:0.146:0.0:0.0	.	65;65	Q5T0N5-4;Q5T0N5-3	.;.	W	65	ENSP00000359278:R65W;ENSP00000271234:R65W;ENSP00000260506:R65W;ENSP00000359275:R65W	ENSP00000260506:R65W	R	+	1	2	FNBP1L	93760279	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	2.386000	0.44380	0.921000	0.36994	-0.457000	0.05445	CGG		0.239	FNBP1L-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding			NM_017737	Missense_Mutation
GPR179	440435	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	36499492	36499492	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr17:36499492C>T	ENST00000342292.4	-	1	201	c.181G>A	c.(181-183)Gct>Act	p.A61T		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	61					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A61T(1)		breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TAGAGATAAGCGAGGGCGGCC	0.637																																																	1	Substitution - Missense(1)	kidney(1)											35.0	38.0	37.0					17																	36499492		1917	4110	6027	SO:0001583	missense	440435				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.181G>A	17.37:g.36499492C>T	ENSP00000345060:p.Ala61Thr			Missense_Mutation	SNP	ENST00000342292.4	37	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	C	5.940	0.357377	0.11239	.	.	ENSG00000188888	ENST00000342292	T	0.78595	-1.19	5.02	3.03	0.35002	.	0.268217	0.30704	N	0.009046	T	0.74268	0.3694	M	0.70275	2.135	0.23602	N	0.997314	B	0.14012	0.009	B	0.10450	0.005	T	0.64093	-0.6488	10	0.46703	T	0.11	-2.4275	10.6573	0.45682	0.0:0.7691:0.0:0.2309	.	61	Q6PRD1	GP179_HUMAN	T	61	ENSP00000345060:A61T	ENSP00000345060:A61T	A	-	1	0	GPR179	33753018	0.004000	0.15560	0.998000	0.56505	0.015000	0.08874	-0.325000	0.07976	0.312000	0.23038	-0.797000	0.03246	GCT		0.637	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			
KIF13A	63971	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	17783914	17783914	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr6:17783914C>T	ENST00000259711.6	-	29	3612	c.3507G>A	c.(3505-3507)atG>atA	p.M1169I	KIF13A_ENST00000378826.2_Missense_Mutation_p.M1169I|KIF13A_ENST00000378814.5_Missense_Mutation_p.M1156I|KIF13A_ENST00000378843.2_Missense_Mutation_p.M1156I|KIF13A_ENST00000378816.5_Missense_Mutation_p.M1169I	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1169					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.M1169I(2)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TGTGGGTTTCCATTCCAGGAG	0.343																																																	2	Substitution - Missense(2)	kidney(2)											69.0	67.0	68.0					6																	17783914		1816	4074	5890	SO:0001583	missense	63971			AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.3507G>A	6.37:g.17783914C>T	ENSP00000259711:p.Met1169Ile		A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	CCDS47381.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.0|21.0	4.077859|4.077859	0.76528|0.76528	.|.	.|.	ENSG00000137177|ENSG00000137177	ENST00000378814;ENST00000502297;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816;ENST00000506044|ENST00000358380	T;T;T;T;T;T|.	0.72942|.	-0.68;1.66;-0.7;-0.67;-0.68;-0.67|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	0.036518|.	0.85682|.	D|.	0.000000|.	T|.	0.68201|.	0.2975|.	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	B;B;B;B|.	0.34290|.	0.088;0.447;0.053;0.27|.	B;B;B;B|.	0.31245|.	0.126;0.097;0.059;0.07|.	T|.	0.64812|.	-0.6319|.	10|.	0.72032|.	D|.	0.01|.	.|.	19.3733|19.3733	0.94498|0.94498	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1156;1169;1169;1156|.	Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3|.	.;.;KI13A_HUMAN;.|.	I|X	1156;173;1169;1169;1156;1169;167|563	ENSP00000368091:M1156I;ENSP00000425616:M173I;ENSP00000259711:M1169I;ENSP00000368103:M1169I;ENSP00000368120:M1156I;ENSP00000368093:M1169I|.	ENSP00000259711:M1169I|.	M|W	-|-	3|2	0|0	KIF13A|KIF13A	17891893|17891893	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.681000|7.681000	0.84073|0.84073	2.667000|2.667000	0.90743|0.90743	0.561000|0.561000	0.74099|0.74099	ATG|TGG		0.343	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			
RP3-470B24.5	0	broad.mit.edu	37	6	168377071	168377071	+	lincRNA	SNP	G	G	A	rs201618689		TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr6:168377071G>A	ENST00000538528.1	-	0	548																											AAGACAGTGGGGGTCATTCCC	0.642																																																	0													3.0	4.0	4.0					6																	168377071		539	1376	1915			100128124																															6.37:g.168377071G>A				Missense_Mutation	SNP	ENST00000538528.1	37																																																																																					0.642	RP3-470B24.5-201	KNOWN	basic	lincRNA	lincRNA				
KRTAP10-2	386679	hgsc.bcm.edu	37	21	45970772	45970772	+	Silent	SNP	A	A	G	rs76021731|rs67692969|rs71199610	byFrequency	TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr21:45970772A>G	ENST00000391621.1	-	1	616	c.570T>C	c.(568-570)ccT>ccC	p.P190P	TSPEAR_ENST00000323084.4_Intron|KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	190	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(4)|skin(1)	6						TGCAGCAGACAGGCTTGCAGC	0.607																																																	0													111.0	112.0	112.0					21																	45970772		2192	4282	6474	SO:0001819	synonymous_variant	386679			AJ566381	CCDS42955.1	21q22.3	2007-10-05			ENSG00000205445	ENSG00000205445		"""Keratin associated proteins"""	22967	protein-coding gene	gene with protein product				KRTAP18-2			Standard	NM_198693		Approved	KAP10.2, KAP18.2	uc002zfi.1	P60368	OTTHUMG00000057625	ENST00000391621.1:c.570T>C	21.37:g.45970772A>G			Q70LJ5	Silent	SNP	ENST00000391621.1	37	CCDS42955.1																																																																																				0.607	KRTAP10-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128027.1			
Unknown	0	broad.mit.edu	37	15	21936308	21936308	+	IGR	SNP	G	G	T			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr15:21936308G>T								RP11-854K16.3 (600884 upstream) : RP11-32B5.7 (4838 downstream)																							CCTGATAGGCGGTTTGCTGAA	0.373																																																	0																																										SO:0001628	intergenic_variant	646214																															15.37:g.21936308G>T				RNA	SNP		37																																																																																				0	0.373									
LOXHD1	125336	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	44069072	44069072	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr18:44069072T>G	ENST00000398722.4	-	31	5077	c.5078A>C	c.(5077-5079)gAt>gCt	p.D1693A	LOXHD1_ENST00000582408.1_Missense_Mutation_p.D798A|LOXHD1_ENST00000300591.6_Missense_Mutation_p.D860A|LOXHD1_ENST00000579038.1_Missense_Mutation_p.D764A|LOXHD1_ENST00000398705.2_Missense_Mutation_p.D210A|LOXHD1_ENST00000398686.4_Missense_Mutation_p.D210A|LOXHD1_ENST00000536736.1_Missense_Mutation_p.D1909A|LOXHD1_ENST00000441551.2_Missense_Mutation_p.D1765A|LOXHD1_ENST00000441893.2_Missense_Mutation_p.D842A			Q8IVV2	LOXH1_HUMAN	lipoxygenase homology domains 1	1693	PLAT 12. {ECO:0000255|PROSITE- ProRule:PRU00152}.				calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|sensory perception of sound (GO:0007605)	membrane (GO:0016020)|stereocilium (GO:0032420)	calcium channel activity (GO:0005262)	p.D1909A(1)|p.D1693A(1)		NS(3)|autonomic_ganglia(1)|breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|pancreas(1)|prostate(4)|skin(4)|stomach(1)	36						GTCCTTCACATCGACATAGCT	0.557																																																	2	Substitution - Missense(2)	kidney(2)											98.0	84.0	88.0					18																	44069072		692	1591	2283	SO:0001583	missense	125336			AK057232	CCDS45861.1, CCDS45862.1, CCDS54184.1	18q21.1	2009-09-11			ENSG00000167210	ENSG00000167210			26521	protein-coding gene	gene with protein product		613072	"""deafness, autosomal recessive 77"""	DFNB77		19732867	Standard	NM_144612		Approved	FLJ32670, LH2D1	uc010xcw.1	Q8IVV2	OTTHUMG00000132644	ENST00000398722.4:c.5078A>C	18.37:g.44069072T>G	ENSP00000381707:p.Asp1693Ala		B7WNN3|B7WNT1|B7WPI9|Q6ZRY7|Q86WW9|Q96DL7	Missense_Mutation	SNP	ENST00000398722.4	37		.	.	.	.	.	.	.	.	.	.	T	10.35	1.326931	0.24080	.	.	ENSG00000167210	ENST00000300591;ENST00000398722;ENST00000398705;ENST00000536736;ENST00000441893;ENST00000398686	T;T;T;T;T;T	0.62788	0.0;0.0;0.0;0.0;0.0;0.0	5.58	5.58	0.84498	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	.	.	.	.	T	0.60314	0.2259	L	0.42245	1.32	0.51482	D	0.999922	P;P;P	0.45902	0.868;0.72;0.643	P;B;B	0.46758	0.526;0.429;0.331	T	0.57236	-0.7846	9	0.25106	T	0.35	.	14.7389	0.69437	0.0:0.0:0.0:1.0	.	1909;842;1693	F5GZB4;F8WA52;Q8IVV2	.;.;LOXH1_HUMAN	A	860;1693;210;1909;842;210	ENSP00000300591:D860A;ENSP00000381707:D1693A;ENSP00000381692:D210A;ENSP00000444586:D1909A;ENSP00000409062:D842A;ENSP00000381676:D210A	ENSP00000300591:D860A	D	-	2	0	LOXHD1	42323070	1.000000	0.71417	0.029000	0.17559	0.192000	0.23643	7.680000	0.84062	2.111000	0.64477	0.533000	0.62120	GAT		0.557	LOXHD1-201	KNOWN	basic	protein_coding	protein_coding			NM_144612	
LRP2	4036	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	169995117	169995117	+	Silent	SNP	A	A	C			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr2:169995117A>C	ENST00000263816.3	-	75	13773	c.13488T>G	c.(13486-13488)ccT>ccG	p.P4496P		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4496					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.P4496P(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TAGCAGTCTCAGGTCCAAAAC	0.393																																																	1	Substitution - coding silent(1)	kidney(1)											112.0	89.0	97.0					2																	169995117		2203	4300	6503	SO:0001819	synonymous_variant	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.13488T>G	2.37:g.169995117A>C			O00711|Q16215	Silent	SNP	ENST00000263816.3	37	CCDS2232.1																																																																																				0.393	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2		NM_004525	
LRRCC1	85444	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	86044062	86044062	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr8:86044062G>T	ENST00000360375.3	+	12	1983	c.1834G>T	c.(1834-1836)Gcc>Tcc	p.A612S	LRRCC1_ENST00000414626.2_Missense_Mutation_p.A592S	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	612					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.A592S(1)|p.A612S(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						TAAAGAAATAGCCAAAGAAGA	0.348																																																	2	Substitution - Missense(2)	kidney(2)											97.0	91.0	93.0					8																	86044062		1835	4086	5921	SO:0001583	missense	85444			BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"""centrosomal leucine-rich repeat and coiled-coil containing protein"", ""variable number of flagella 1 homolog (Chlamydomonas)"""		"""leucine rich repeat and coiled-coil domain containing 1"""			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.1834G>T	8.37:g.86044062G>T	ENSP00000353538:p.Ala612Ser		B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP	ENST00000360375.3	37	CCDS43750.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.427865	0.43122	.	.	ENSG00000133739	ENST00000360375;ENST00000414626	T;T	0.35605	1.3;1.3	5.64	3.63	0.41609	.	0.437580	0.16922	N	0.194042	T	0.31575	0.0801	L	0.55103	1.725	0.39157	D	0.962337	B;B;B;B	0.27351	0.047;0.176;0.047;0.156	B;B;B;B	0.21546	0.025;0.025;0.025;0.035	T	0.09487	-1.0672	10	0.10111	T	0.7	-0.7951	14.4738	0.67533	0.0:0.0:0.672:0.328	.	519;592;519;612	B4DV06;Q9C099-2;E9PE41;Q9C099	.;.;.;LRCC1_HUMAN	S	612;592	ENSP00000353538:A612S;ENSP00000394695:A592S	ENSP00000353538:A612S	A	+	1	0	LRRCC1	86231314	1.000000	0.71417	0.326000	0.25389	0.937000	0.57800	4.151000	0.58105	0.649000	0.30751	0.650000	0.86243	GCC		0.348	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1		NM_033402	
LYPD3	27076	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	43969649	43969649	+	Silent	SNP	G	G	A			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr19:43969649G>A	ENST00000244333.3	-	1	163	c.75C>T	c.(73-75)cgC>cgT	p.R25R		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	25					cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.R25R(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				ACCCACCTCCGCGAAGCAGCA	0.667																																																	1	Substitution - coding silent(1)	kidney(1)											78.0	73.0	74.0					19																	43969649		2203	4300	6503	SO:0001819	synonymous_variant	27076			AF082889	CCDS12620.1	19q13.31	2008-02-05				ENSG00000124466			24880	protein-coding gene	gene with protein product		609484				11179665, 11245483	Standard	NM_014400		Approved	C4.4A	uc002owl.1	O95274		ENST00000244333.3:c.75C>T	19.37:g.43969649G>A			Q9UJ74	Silent	SNP	ENST00000244333.3	37	CCDS12620.1																																																																																				0.667	LYPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463177.1		NM_014400	
MAD1L1	8379	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	2255571	2255571	+	Silent	SNP	C	C	T			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr7:2255571C>T	ENST00000406869.1	-	9	1430	c.873G>A	c.(871-873)ggG>ggA	p.G291G	MAD1L1_ENST00000399654.2_Silent_p.G291G|MAD1L1_ENST00000265854.7_Silent_p.G291G|MAD1L1_ENST00000402746.1_Silent_p.G199G|MAD1L1_ENST00000486340.1_5'Flank			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	291					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)		p.G291G(1)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		TCTCCTGGCGCCCCAGCTTCC	0.617																																																	1	Substitution - coding silent(1)	kidney(1)											134.0	163.0	153.0					7																	2255571		2159	4257	6416	SO:0001819	synonymous_variant	8379			U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"""MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"""			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493	ENST00000406869.1:c.873G>A	7.37:g.2255571C>T			B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Silent	SNP	ENST00000406869.1	37	CCDS43539.1																																																																																				0.617	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1		NM_003550	
MAPK9	5601	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	179668101	179668101	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr5:179668101C>T	ENST00000452135.2	-	9	1224	c.926G>A	c.(925-927)cGg>cAg	p.R309Q	MAPK9_ENST00000393360.3_Missense_Mutation_p.R309Q|MAPK9_ENST00000343111.6_Missense_Mutation_p.R309Q|MAPK9_ENST00000347470.4_Missense_Mutation_p.R224Q|MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000455781.1_Missense_Mutation_p.R309Q|MAPK9_ENST00000524170.1_5'Flank			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	309	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV (GO:0034644)|central nervous system development (GO:0007417)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neuron projection development (GO:0031175)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell morphogenesis involved in differentiation (GO:0010770)|positive regulation of chemokine production (GO:0032722)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|protein targeting to mitochondrion (GO:0006626)|regulation of JNK cascade (GO:0046328)|regulation of protein ubiquitination (GO:0031396)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to amine (GO:0014075)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|JUN kinase activity (GO:0004705)|transcription factor binding (GO:0008134)	p.R309Q(3)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TACAGAGATCCGCTTGTCAGG	0.393																																																	3	Substitution - Missense(3)	kidney(3)											186.0	193.0	190.0					5																	179668101		2203	4300	6503	SO:0001583	missense	5601			U09759	CCDS4453.1, CCDS4454.1, CCDS43409.1, CCDS43410.1, CCDS47356.1	5q35	2011-06-09			ENSG00000050748	ENSG00000050748	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6886	protein-coding gene	gene with protein product	"""Jun kinase"""	602896		PRKM9		8001819	Standard	NM_002752		Approved	JNK2, p54a, SAPK	uc003mls.4	P45984	OTTHUMG00000130934	ENST00000452135.2:c.926G>A	5.37:g.179668101C>T	ENSP00000394560:p.Arg309Gln		A8K0S3|B5BU66|B5M0B4|D3DWQ8|D3DWQ9|Q15708|Q15710|Q15711|Q8N5C5	Missense_Mutation	SNP	ENST00000452135.2	37	CCDS4453.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.433363	0.62844	.	.	ENSG00000050748	ENST00000452135;ENST00000393360;ENST00000455781;ENST00000343111;ENST00000347470	D;D;D;D;D	0.96802	-4.13;-4.13;-4.13;-4.13;-4.13	5.43	3.57	0.40892	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98988	0.9655	H	0.99634	4.67	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.998;0.998;0.999	D	0.98362	1.0549	10	0.87932	D	0	-7.731	12.5159	0.56032	0.1322:0.7408:0.127:0.0	.	309;309;309;309	P45984-4;P45984-3;P45984-2;P45984	.;.;.;MK09_HUMAN	Q	309;309;309;309;224	ENSP00000394560:R309Q;ENSP00000377028:R309Q;ENSP00000389338:R309Q;ENSP00000345524:R309Q;ENSP00000321410:R224Q	ENSP00000345524:R309Q	R	-	2	0	MAPK9	179600707	1.000000	0.71417	0.861000	0.33841	0.316000	0.28119	5.934000	0.70138	1.270000	0.44297	0.557000	0.71058	CGG		0.393	MAPK9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253530.3			
MED13L	23389	broad.mit.edu;ucsc.edu	37	12	116549250	116549250	+	Silent	SNP	G	G	T			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr12:116549250G>T	ENST00000281928.3	-	3	584	c.378C>A	c.(376-378)atC>atA	p.I126I	MED13L_ENST00000551197.1_5'UTR	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	126						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.I126I(1)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		ACAGATTGTGGATCGCTTTGA	0.373																																																	1	Substitution - coding silent(1)	kidney(1)											133.0	133.0	133.0					12																	116549250		2203	4300	6503	SO:0001819	synonymous_variant	23389			AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.378C>A	12.37:g.116549250G>T			A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Silent	SNP	ENST00000281928.3	37	CCDS9177.1																																																																																				0.373	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			
MED14	9282	broad.mit.edu;hgsc.bcm.edu	37	X	40573155	40573155	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chrX:40573155T>C	ENST00000324817.1	-	5	645	c.527A>G	c.(526-528)aAa>aGa	p.K176R		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	176					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.K176R(1)		NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGGAATAATTTTGTCCTGCAA	0.343																																																	1	Substitution - Missense(1)	kidney(1)											125.0	125.0	125.0					X																	40573155		2203	4300	6503	SO:0001583	missense	9282			AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"""cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"""	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.527A>G	X.37:g.40573155T>C	ENSP00000323720:p.Lys176Arg		Q4KMR7|Q9UNB3	Missense_Mutation	SNP	ENST00000324817.1	37	CCDS14254.1	.	.	.	.	.	.	.	.	.	.	T	8.459	0.854871	0.17106	.	.	ENSG00000180182	ENST00000324817	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.24967	0.0606	N	0.02111	-0.68	0.80722	D	1	B	0.20164	0.042	B	0.17098	0.017	T	0.22591	-1.0212	9	0.06891	T	0.86	.	14.7892	0.69827	0.0:0.0:0.0:1.0	.	176	O60244	MED14_HUMAN	R	176	.	ENSP00000323720:K176R	K	-	2	0	MED14	40458099	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.652000	0.83633	1.874000	0.54306	0.441000	0.28932	AAA		0.343	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060692.1		NM_004229	
MEIS1	4211	hgsc.bcm.edu	37	2	66739382	66739383	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr2:66739382_66739383insT	ENST00000272369.9	+	8	1301_1302	c.844_845insT	c.(844-846)gtafs	p.V282fs	MEIS1_ENST00000444274.2_Intron|MEIS1_ENST00000398506.2_Frame_Shift_Ins_p.V280fs|MEIS1_ENST00000407092.2_Frame_Shift_Ins_p.V282fs|MEIS1_ENST00000495021.2_Frame_Shift_Ins_p.V217fs|MEIS1_ENST00000409517.1_Intron|MEIS1_ENST00000560281.2_Frame_Shift_Ins_p.V282fs|MEIS1_ENST00000488550.1_Frame_Shift_Ins_p.V282fs	NM_002398.2	NP_002389.1	O00470	MEIS1_HUMAN	Meis homeobox 1	282					angiogenesis (GO:0001525)|definitive hemopoiesis (GO:0060216)|lens morphogenesis in camera-type eye (GO:0002089)|megakaryocyte development (GO:0035855)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron differentiation (GO:0045665)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						CTTTCCCAAAGTAGCCACAAAT	0.426																																																	0																																										SO:0001589	frameshift_variant	4211				CCDS46309.1	2p14	2011-06-20	2007-02-15		ENSG00000143995	ENSG00000143995		"""Homeoboxes / TALE class"""	7000	protein-coding gene	gene with protein product		601739	"""Meis1 (mouse) homolog"", ""Meis1, myeloid ecotropic viral integration site 1 homolog (mouse)"""			7565694	Standard	NM_002398		Approved		uc002sdu.3	O00470	OTTHUMG00000150714	ENST00000272369.9:c.845dupT	2.37:g.66739383_66739383dupT	ENSP00000272369:p.Val282fs		A8MV50	Frame_Shift_Ins	INS	ENST00000272369.9	37	CCDS46309.1																																																																																				0.426	MEIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319725.4		NM_002398	
MUC16	94025	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	8998753	8998753	+	Silent	SNP	G	G	T	rs369873764		TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr19:8998753G>T	ENST00000397910.4	-	58	41033	c.40830C>A	c.(40828-40830)acC>acA	p.T13610T	MUC16_ENST00000380951.5_Silent_p.T251T	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13612				Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.T295T(1)|p.T13610T(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCACTGTGGGGGTCCCAGGAA	0.502																																																	2	Substitution - coding silent(2)	kidney(2)											46.0	43.0	44.0					19																	8998753		1865	4105	5970	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.40830C>A	19.37:g.8998753G>T			Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	1.595	-0.528068	0.04112	.	.	ENSG00000181143	ENST00000542240	.	.	.	0.949	-1.9	0.07665	.	.	.	.	.	T	0.24431	0.0592	.	.	.	.	.	.	.	.	.	.	.	.	T	0.28586	-1.0039	3	.	.	.	.	2.4247	0.04456	0.2548:0.3247:0.4205:0.0	.	.	.	.	H	450	.	.	P	-	2	0	MUC16	8859753	0.000000	0.05858	0.008000	0.14137	0.070000	0.16714	-2.011000	0.01452	-0.537000	0.06290	0.430000	0.28490	CCC		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690	
MUC4	4585	hgsc.bcm.edu	37	3	195507915	195507915	+	Silent	SNP	T	T	C	rs71635073		TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr3:195507915T>C	ENST00000463781.3	-	2	10995	c.10536A>G	c.(10534-10536)tcA>tcG	p.S3512S	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.S3512S|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.S3512S(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CGGTGGATGCTGAGGAAGCGC	0.587																																																	1	Substitution - coding silent(1)	kidney(1)											45.0	38.0	40.0					3																	195507915		649	1586	2235	SO:0001819	synonymous_variant	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.10536A>G	3.37:g.195507915T>C			O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	CCDS54700.1																																																																																				0.587	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
MUC4	4585	broad.mit.edu	37	3	195509180	195509180	+	Missense_Mutation	SNP	C	C	G	rs62282477		TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr3:195509180C>G	ENST00000463781.3	-	2	9730	c.9271G>C	c.(9271-9273)Gtc>Ctc	p.V3091L	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.V3091L|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.V3091L(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGGCTGGTGACAGGAAGAGGG	0.597																																																	1	Substitution - Missense(1)	kidney(1)											14.0	11.0	12.0					3																	195509180		667	1551	2218	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.9271G>C	3.37:g.195509180C>G	ENSP00000417498:p.Val3091Leu		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	c	3.811	-0.039731	0.07497	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.30448	1.58;1.53	.	.	.	.	.	.	.	.	T	0.16642	0.0400	N	0.19112	0.55	0.19945	N	0.999946	B	0.14805	0.011	B	0.08055	0.003	T	0.27673	-1.0067	7	.	.	.	.	6.7489	0.23475	0.0:0.9997:0.0:3.0E-4	.	2963	E7ESK3	.	L	3091	ENSP00000417498:V3091L;ENSP00000420243:V3091L	.	V	-	1	0	MUC4	196993959	0.152000	0.22762	0.008000	0.14137	0.000000	0.00434	0.189000	0.17037	0.497000	0.27926	0.000000	0.15137	GTC		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
MUC7	4589	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	71346891	71346891	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr4:71346891A>T	ENST00000304887.5	+	3	620	c.430A>T	c.(430-432)Aat>Tat	p.N144Y	MUC7_ENST00000413702.1_Missense_Mutation_p.N144Y|MUC7_ENST00000456088.1_Missense_Mutation_p.N144Y|MUC7_ENST00000514512.1_3'UTR	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	144	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.N144Y(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			TTCAAGAGAAAATGTTAACAC	0.463																																																	1	Substitution - Missense(1)	kidney(1)											200.0	185.0	190.0					4																	71346891		2203	4300	6503	SO:0001583	missense	4589			BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.430A>T	4.37:g.71346891A>T	ENSP00000302021:p.Asn144Tyr		Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	A	9.783	1.175929	0.21704	.	.	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.53857	0.6;0.6;0.6	3.01	-2.24	0.06909	.	.	.	.	.	T	0.48732	0.1516	N	0.24115	0.695	0.09310	N	1	D	0.64830	0.994	P	0.62184	0.899	T	0.44742	-0.9308	8	.	.	.	.	7.3152	0.26498	0.4713:0.0:0.5287:0.0	.	144	Q8TAX7	MUC7_HUMAN	Y	144	ENSP00000407422:N144Y;ENSP00000400585:N144Y;ENSP00000302021:N144Y	.	N	+	1	0	MUC7	71381480	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.171000	0.09883	-0.456000	0.07043	-0.250000	0.11733	AAT		0.463	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2		NM_152291	
MUM1	84939	hgsc.bcm.edu;ucsc.edu	37	19	1369580	1369580	+	Intron	SNP	C	C	T	rs200303657		TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr19:1369580C>T	ENST00000415183.3	+	10	1527				MUM1_ENST00000344663.3_Intron|MUM1_ENST00000311401.5_Intron|MUM1_ENST00000591806.1_Intron			Q2TAK8	MUM1_HUMAN	melanoma associated antigen (mutated) 1						chromatin organization (GO:0006325)|DNA repair (GO:0006281)	nucleus (GO:0005634)	nucleosome binding (GO:0031491)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTCTCTCCCCTCCACCCCCT	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		17761	0.001		0.0	False		,,,				2504	0.0																0													109.0	112.0	111.0					19																	1369580		2203	4300	6503	SO:0001627	intron_variant	84939			AK075241	CCDS12062.1	19p13.3	2008-02-05				ENSG00000160953			29641	protein-coding gene	gene with protein product						11042152, 7644523	Standard	NM_032853		Approved	MUM-1	uc002lrz.2	Q2TAK8		ENST00000415183.3:c.1502-15C>T	19.37:g.1369580C>T			A1L489|B5ME02|B7ZLY8|J3KQD6|Q13109|Q5XKB9|Q8N2I4|Q96A67	RNA	SNP	ENST00000415183.3	37																																																																																					0.532	MUM1-016	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000449510.1		NM_032853	
MYBBP1A	10514	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	4442824	4442824	+	Silent	SNP	T	T	A			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr17:4442824T>A	ENST00000254718.4	-	26	4179	c.3873A>T	c.(3871-3873)ccA>ccT	p.P1291P	MYBBP1A_ENST00000381556.2_Silent_p.P1291P			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	1291	Required for nuclear and nucleolar localization. {ECO:0000250}.				cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)	p.P1291P(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						GCGCGGACAGTGGTGATTTGC	0.587																																																	1	Substitution - coding silent(1)	kidney(1)											171.0	170.0	170.0					17																	4442824		2203	4300	6503	SO:0001819	synonymous_variant	10514			AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"""p53-activated protein-2"""	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.3873A>T	17.37:g.4442824T>A			Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Silent	SNP	ENST00000254718.4	37	CCDS11046.1																																																																																				0.587	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2		NM_014520	
Unknown	0	hgsc.bcm.edu	37	1	144615250	144615251	+	IGR	INS	-	-	AA	rs202042060|rs10625215	byFrequency	TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr1:144615250_144615251insAA								RP11-640M9.2 (9359 upstream) : NBPF9 (196492 downstream)																							ACCTCAAAGAGATGTTTTCTAA	0.46														497	0.0992412	0.0076	0.1009	5008	,	,		14193	0.2589		0.0606	False		,,,				2504	0.0971																0																																										SO:0001628	intergenic_variant	400818																															1.37:g.144615250_144615251insAA				Frame_Shift_Ins	INS		37																																																																																				0	0.460									
NUP153	9972	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	17624932	17624932	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr6:17624932G>A	ENST00000262077.2	-	20	4033	c.4034C>T	c.(4033-4035)tCa>tTa	p.S1345L	NUP153_ENST00000537253.1_Missense_Mutation_p.S1376L	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	1345					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)	p.S1345L(1)		NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TGTGGAAGATGATATAGATCC	0.527																																																	1	Substitution - Missense(1)	kidney(1)											120.0	120.0	120.0					6																	17624932		2203	4300	6503	SO:0001583	missense	9972			Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.4034C>T	6.37:g.17624932G>A	ENSP00000262077:p.Ser1345Leu		B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	ENST00000262077.2	37	CCDS4541.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.415529	0.62511	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.07800	3.16;3.16	5.37	5.37	0.77165	.	0.157357	0.29684	N	0.011472	T	0.05686	0.0149	L	0.47716	1.5	0.21553	N	0.999648	B;B;B	0.32753	0.383;0.049;0.049	B;B;B	0.36719	0.231;0.039;0.016	T	0.13176	-1.0519	10	0.45353	T	0.12	-11.0056	17.6484	0.88155	0.0:0.0:1.0:0.0	.	1376;1325;1345	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	L	1345;1325;1376	ENSP00000262077:S1345L;ENSP00000444029:S1376L	ENSP00000262077:S1345L	S	-	2	0	NUP153	17732911	0.866000	0.29940	0.258000	0.24420	0.960000	0.62799	4.771000	0.62318	2.681000	0.91329	0.655000	0.94253	TCA		0.527	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1			
OR2G2	81470	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	247752125	247752125	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr1:247752125G>A	ENST00000320065.1	+	1	464	c.464G>A	c.(463-465)gGa>gAa	p.G155E	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	155						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G155E(1)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TGGCTCAGTGGAATAGCCACC	0.552																																																	1	Substitution - Missense(1)	kidney(1)											226.0	198.0	207.0					1																	247752125		2203	4300	6503	SO:0001583	missense	81470			BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"""GPCR / Class A : Olfactory receptors"""	15007	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily G, member 2"", ""olfactory receptor, family 2, subfamily G, member 2 pseudogene"""				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.464G>A	1.37:g.247752125G>A	ENSP00000326349:p.Gly155Glu		Q5JQT2|Q6IEZ0	Missense_Mutation	SNP	ENST00000320065.1	37	CCDS31092.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.647290	0.29246	.	.	ENSG00000177489	ENST00000320065	T	0.40756	1.02	4.29	4.29	0.51040	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37304	U	0.002149	T	0.75831	0.3903	H	0.98918	4.37	0.09310	N	1	D	0.76494	0.999	D	0.87578	0.998	T	0.72398	-0.4306	10	0.87932	D	0	.	9.5446	0.39273	0.0:0.0:0.7901:0.2099	.	155	Q8NGZ5	OR2G2_HUMAN	E	155	ENSP00000326349:G155E	ENSP00000326349:G155E	G	+	2	0	OR2G2	245818748	0.016000	0.18221	0.821000	0.32701	0.114000	0.19823	1.299000	0.33424	2.206000	0.71126	0.591000	0.81541	GGA		0.552	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1			
PALLD	23022	broad.mit.edu	37	4	169433483	169433483	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr4:169433483G>C	ENST00000505667.1	+	2	1001	c.828G>C	c.(826-828)aaG>aaC	p.K276N	PALLD_ENST00000335742.7_5'UTR|PALLD_ENST00000261509.6_Missense_Mutation_p.K276N|PALLD_ENST00000333488.4_Missense_Mutation_p.K153N			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	276	Ig-like C2-type 1.				cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)	p.K276N(1)		breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		TCATCCAAAAGCTGAGGAGCC	0.532									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)												1	Substitution - Missense(1)	kidney(1)											48.0	45.0	46.0					4																	169433483		2203	4300	6503	SO:0001583	missense	23022	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"""Immunoglobulin superfamily / I-set domain containing"""	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.828G>C	4.37:g.169433483G>C	ENSP00000425556:p.Lys276Asn		B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP	ENST00000505667.1	37	CCDS54818.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.203060	0.58234	.	.	ENSG00000129116	ENST00000261509;ENST00000505667;ENST00000508898;ENST00000333488	T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35	5.24	3.19	0.36642	.	0.000000	0.33110	U	0.005261	T	0.70911	0.3278	L	0.41027	1.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.66984	-0.5785	10	0.30854	T	0.27	.	9.8768	0.41209	0.2651:0.0:0.7348:0.0	.	276;276	B7ZMM5;B2RTX2	.;.	N	276;276;255;153	ENSP00000261509:K276N;ENSP00000425556:K276N;ENSP00000423063:K255N;ENSP00000328945:K153N	ENSP00000261509:K276N	K	+	3	2	PALLD	169670058	1.000000	0.71417	1.000000	0.80357	0.630000	0.37929	2.288000	0.43514	1.177000	0.42855	0.467000	0.42956	AAG		0.532	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1		NM_016081	
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52702514	52702514	+	Splice_Site	SNP	C	C	T			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr3:52702514C>T	ENST00000296302.7	-	3	385	c.384G>A	c.(382-384)aaG>aaA	p.K128K	PBRM1_ENST00000356770.4_Splice_Site_p.K128K|PBRM1_ENST00000337303.4_Splice_Site_p.K128K|PBRM1_ENST00000410007.1_Splice_Site_p.K128K|PBRM1_ENST00000409114.3_Splice_Site_p.K128K|PBRM1_ENST00000394830.3_Splice_Site_p.K128K|PBRM1_ENST00000409057.1_Splice_Site_p.K128K|PBRM1_ENST00000409767.1_Splice_Site_p.K128K			Q86U86	PB1_HUMAN	polybromo 1	128	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.K128K(3)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AATTTCTTACCTTATAATAGG	0.313			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	3	Substitution - coding silent(3)	kidney(3)											50.0	48.0	49.0					3																	52702514		2202	4297	6499	SO:0001630	splice_region_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.384+1G>A	3.37:g.52702514C>T			A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Silent	SNP	ENST00000296302.7	37																																																																																					0.313	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165	Silent
PCDH15	65217	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	55568846	55568846	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr10:55568846G>A	ENST00000395445.1	-	36	5358	c.4964C>T	c.(4963-4965)gCa>gTa	p.A1655V	PCDH15_ENST00000395442.1_Missense_Mutation_p.A520V|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000395440.1_Missense_Mutation_p.A589V|PCDH15_ENST00000395446.1_Missense_Mutation_p.A851V|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000414778.1_Intron	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTTTTTCCTTGCTTTTTCTCC	0.473										HNSCC(58;0.16)																																							0													130.0	100.0	109.0					10																	55568846		1568	3582	5150	SO:0001583	missense	65217			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000395445.1:c.4964C>T	10.37:g.55568846G>A	ENSP00000378832:p.Ala1655Val		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000395445.1	37		.	.	.	.	.	.	.	.	.	.	G	13.99	2.402101	0.42613	.	.	ENSG00000150275	ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440	T;D;D;D	0.97328	2.22;-4.34;-4.34;-4.34	5.55	3.59	0.41128	.	.	.	.	.	D	0.91327	0.7265	N	0.14661	0.345	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	D	0.87270	0.2285	9	0.72032	D	0.01	.	6.0362	0.19708	0.1514:0.0:0.6038:0.2448	.	1653;1655	C6ZEF5;A2A3E2	.;.	V	1655;851;520;589	ENSP00000378832:A1655V;ENSP00000378833:A851V;ENSP00000378829:A520V;ENSP00000378827:A589V	ENSP00000378827:A589V	A	-	2	0	PCDH15	55238852	0.615000	0.27026	0.891000	0.34965	0.613000	0.37349	2.796000	0.47869	1.345000	0.45676	0.655000	0.94253	GCA		0.473	PCDH15-007	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000291335.1		NM_033056	
PCDHGB7	56099	broad.mit.edu	37	5	140797646	140797646	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr5:140797646C>T	ENST00000398594.2	+	1	220	c.220C>T	c.(220-222)Cac>Tac	p.H74Y	PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	74	Cadherin 1. {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.H74Y(1)|p.H74N(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGAAGCTGCACTTCAGCGT	0.562																																																	2	Substitution - Missense(2)	lung(1)|kidney(1)											101.0	107.0	105.0					5																	140797646		1959	4151	6110	SO:0001583	missense	56099			AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"""Cadherins / Protocadherins : Clustered"""	8714	other	protocadherin	"""cadherin ME6"""	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.220C>T	5.37:g.140797646C>T	ENSP00000381594:p.His74Tyr		Q9UN63	Missense_Mutation	SNP	ENST00000398594.2	37	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	c	2.925	-0.222265	0.06061	.	.	ENSG00000254122	ENST00000398594	T	0.24350	1.86	5.92	4.88	0.63580	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	1.048000	0.07705	N	0.941071	T	0.07413	0.0187	N	0.00765	-1.205	0.23743	N	0.996965	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.31024	-0.9958	10	0.02654	T	1	.	7.1855	0.25797	0.0:0.7685:0.0:0.2315	.	74;74	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	Y	74	ENSP00000381594:H74Y	ENSP00000381594:H74Y	H	+	1	0	PCDHGB7	140777830	0.020000	0.18652	1.000000	0.80357	0.939000	0.58152	0.411000	0.21115	2.822000	0.97130	0.650000	0.86243	CAC		0.562	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1		NM_018927	
PCDHGC5	56097	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140869478	140869478	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr5:140869478G>T	ENST00000252087.1	+	1	671	c.671G>T	c.(670-672)gGg>gTg	p.G224V	PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	224	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G224V(2)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCGCTCAGGGACCACCCTT	0.552																																																	2	Substitution - Missense(2)	kidney(2)											92.0	97.0	95.0					5																	140869478		2203	4300	6503	SO:0001583	missense	56097			AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"""Cadherins / Protocadherins : Clustered"""	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.671G>T	5.37:g.140869478G>T	ENSP00000252087:p.Gly224Val		Q9Y5C2	Missense_Mutation	SNP	ENST00000252087.1	37	CCDS4263.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.300531	0.40694	.	.	ENSG00000240764	ENST00000252087	T	0.01725	4.67	6.08	6.08	0.98989	Cadherin (4);Cadherin-like (1);	0.106321	0.42548	D	0.000691	T	0.23926	0.0579	H	0.98466	4.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.43228	-0.9404	10	0.87932	D	0	.	20.2751	0.98485	0.0:0.0:1.0:0.0	.	224;224	Q9Y5F6-2;Q9Y5F6	.;PCDGM_HUMAN	V	224	ENSP00000252087:G224V	ENSP00000252087:G224V	G	+	2	0	PCDHGC5	140849662	1.000000	0.71417	1.000000	0.80357	0.003000	0.03518	9.822000	0.99363	2.890000	0.99128	0.655000	0.94253	GGG		0.552	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251819.1		NM_018929	
PCLO	27445	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	82582155	82582155	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr7:82582155A>G	ENST00000333891.9	-	5	8451	c.8114T>C	c.(8113-8115)cTa>cCa	p.L2705P	PCLO_ENST00000423517.2_Missense_Mutation_p.L2705P|PCLO_ENST00000437081.1_5'Flank	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.L2705P(2)|p.L2636P(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TATGTTATCTAGAGCAAGAGG	0.403																																																	3	Substitution - Missense(3)	kidney(3)											58.0	56.0	57.0					7																	82582155		1852	4093	5945	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.8114T>C	7.37:g.82582155A>G	ENSP00000334319:p.Leu2705Pro			Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	A	6.288	0.421290	0.11928	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.25912	1.95;1.77	5.36	2.68	0.31781	.	.	.	.	.	T	0.19406	0.0466	L	0.36672	1.1	0.80722	D	1	B;B	0.14438	0.01;0.01	B;B	0.14023	0.01;0.01	T	0.06162	-1.0842	9	0.87932	D	0	.	7.9645	0.30091	0.7933:0.0:0.0753:0.1314	.	2705;2705	Q9Y6V0-5;Q9Y6V0-6	.;.	P	2636;2705;2705	ENSP00000334319:L2705P;ENSP00000388393:L2705P	ENSP00000334319:L2705P	L	-	2	0	PCLO	82420091	0.991000	0.36638	0.993000	0.49108	0.980000	0.70556	1.567000	0.36407	0.883000	0.36040	0.482000	0.46254	CTA		0.403	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5		NM_014510	
PDE4DIP	9659	broad.mit.edu;hgsc.bcm.edu	37	1	144931265	144931265	+	Intron	SNP	G	G	A			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr1:144931265G>A	ENST00000369354.3	-	6	826				PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000313431.9_Silent_p.I148I|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000529945.1_Silent_p.I148I|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000530740.1_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein						cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.I148I(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GTGGCTCCTGGATCTGATCCT	0.552			T	PDGFRB	MPD																																			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	1	Substitution - coding silent(1)	kidney(1)											134.0	134.0	134.0					1																	144931265		2203	4300	6503	SO:0001627	intron_variant	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.637-7444C>T	1.37:g.144931265G>A			A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	37	CCDS30824.1																																																																																				0.552	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2		NM_022359	
PDGFRB	5159	broad.mit.edu;hgsc.bcm.edu;ucsc.edu|broad.mit.edu;ucsc.edu	37	5	149505045	149505046	+	Missense_Mutation	DNP	GT	GT	AG			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	G|T	G|T	G|.	A|.	G|.	G|.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq|Illumina GAIIx	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr5:149505045_149505046GT>AG	ENST00000261799.4	-	12	2238_2239	c.1769_1770AC>CT	c.(1768-1770)gAC>gCT	p.D590A		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	590					adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)	p.D590A(1)|p.D590D(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCCACGTGGAGTCATAGGGCAG	0.584			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""																																			Dom	yes		5	5q31-q32	5159	"""platelet-derived growth factor receptor, beta polypeptide"""		L	2	Substitution - Missense(1)|Substitution - coding silent(1)	kidney(2)																																								SO:0001583	missense	5159			M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.1769_1770delinsAG	5.37:g.149505045_149505046delinsAG	ENSP00000261799:p.Asp590Ala		B5A957|Q8N5L4	Silent|Missense_Mutation	SNP	ENST00000261799.4	37	CCDS4303.1																																																																																				0.584	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1		NM_002609	
PI4KAP1	728233	broad.mit.edu	37	22	20385733	20385733	+	RNA	SNP	A	A	G			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr22:20385733A>G	ENST00000430523.3	-	0	2078					NR_003563.1		Q8N8J0	PI4P1_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 1						phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)												TACTTCAAGAACTTGATTGTC	0.537																																																	0																																												728233					22q11.21	2007-08-14	2007-08-14			ENSG00000274602			33576	pseudogene	pseudogene							Standard	NR_003563		Approved		uc010gsg.2	Q8N8J0			22.37:g.20385733A>G				RNA	SNP	ENST00000430523.3	37																																																																																					0.537	PI4KAP1-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319534.5			
PIK3C2G	5288	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	18762521	18762521	+	Silent	SNP	G	G	A			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr12:18762521G>A	ENST00000266497.5	+	29	4055	c.4017G>A	c.(4015-4017)gaG>gaA	p.E1339E	PIK3C2G_ENST00000538779.1_Silent_p.E1380E|PIK3C2G_ENST00000433979.1_Silent_p.E1339E			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1339	C2.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)	p.E1339E(1)|p.V1340V(1)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TATCCTACGAGGATGTGAAGC	0.363																																																	2	Substitution - coding silent(2)	kidney(2)											48.0	46.0	47.0					12																	18762521		1874	4099	5973	SO:0001819	synonymous_variant	5288			AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.4017G>A	12.37:g.18762521G>A			A1L3U0	Silent	SNP	ENST00000266497.5	37	CCDS44839.1																																																																																				0.363	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1		NM_004570	
POLR2A	5430	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	7415174	7415174	+	Silent	SNP	G	G	T			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr17:7415174G>T	ENST00000322644.6	+	25	4545	c.4146G>T	c.(4144-4146)ctG>ctT	p.L1382L		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1382					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)	p.L1382L(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				AGCGGGAGCTGTACCACGTCA	0.587																																																	1	Substitution - coding silent(1)	kidney(1)											138.0	117.0	124.0					17																	7415174		2203	4300	6503	SO:0001819	synonymous_variant	5430					17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.4146G>T	17.37:g.7415174G>T			A6NN93|B9EH88|Q6NX41	Silent	SNP	ENST00000322644.6	37	CCDS32548.1																																																																																				0.587	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1		NM_000937	
PPP1R15A	23645	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	49379159	49379159	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr19:49379159G>A	ENST00000200453.5	+	3	2223	c.1954G>A	c.(1954-1956)Gct>Act	p.A652T		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	652					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of translation (GO:0006417)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	protein kinase binding (GO:0019901)	p.A652T(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		CTTGAGCCAAGCTGTGGCCAC	0.607																																																	1	Substitution - Missense(1)	kidney(1)											92.0	89.0	90.0					19																	49379159		2203	4300	6503	SO:0001583	missense	23645			U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14375	protein-coding gene	gene with protein product	"""growth arrest and DNA-damage-inducible 34"""	611048	"""protein phosphatase 1, regulatory (inhibitor) subunit 15A"""			9153226, 9413226	Standard	NM_014330		Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.1954G>A	19.37:g.49379159G>A	ENSP00000200453:p.Ala652Thr		B4DKQ3|Q6IA96|Q9NVU6	Missense_Mutation	SNP	ENST00000200453.5	37	CCDS12738.1	.	.	.	.	.	.	.	.	.	.	G	10.76	1.440996	0.25900	.	.	ENSG00000087074	ENST00000200453;ENST00000540695;ENST00000544084	T	0.05513	3.43	3.96	-0.558	0.11796	.	1.107710	0.06953	N	0.814932	T	0.04588	0.0125	N	0.24115	0.695	0.09310	N	1	B	0.21452	0.056	B	0.18263	0.021	T	0.46317	-0.9200	10	0.27785	T	0.31	-0.0042	6.5664	0.22515	0.4131:0.0:0.5869:0.0	.	652	O75807	PR15A_HUMAN	T	652;492;610	ENSP00000200453:A652T	ENSP00000200453:A652T	A	+	1	0	PPP1R15A	54070971	0.002000	0.14202	0.000000	0.03702	0.125000	0.20455	1.064000	0.30579	0.009000	0.14813	0.609000	0.83330	GCT		0.607	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1		NM_014330	
PRPH	5630	broad.mit.edu;ucsc.edu	37	12	49690246	49690246	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr12:49690246A>G	ENST00000257860.4	+	3	2137	c.638A>G	c.(637-639)gAa>gGa	p.E213G	RP11-161H23.9_ENST00000553259.1_RNA	NM_006262.3	NP_006253.2	P23942	PRPH2_HUMAN	peripherin	0			C -> R (in PDREP). {ECO:0000269|PubMed:9443872}.		cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.E213G(1)		kidney(1)|large_intestine(2)|lung(8)|skin(1)	12						TCCCGCCTGGAACTAGAGCGC	0.567																																																	1	Substitution - Missense(1)	kidney(1)											95.0	85.0	88.0					12																	49690246		2203	4300	6503	SO:0001583	missense	5630				CCDS8783.1	12q12-q13	2013-01-16						"""Intermediate filaments type III"""	9461	protein-coding gene	gene with protein product		170710		NEF4		1378416	Standard	XM_005269025		Approved	PRPH1	uc001rtu.3	P41219		ENST00000257860.4:c.638A>G	12.37:g.49690246A>G	ENSP00000257860:p.Glu213Gly		Q5TFH5|Q6DK65	Missense_Mutation	SNP	ENST00000257860.4	37	CCDS8783.1	.	.	.	.	.	.	.	.	.	.	A	36	5.918417	0.97105	.	.	ENSG00000135406	ENST00000257860	D	0.90900	-2.75	5.71	5.71	0.89125	Filament (1);	0.000000	0.40385	N	0.001109	D	0.93615	0.7961	M	0.77313	2.365	0.80722	D	1	P	0.51057	0.941	P	0.53988	0.739	D	0.94314	0.7548	10	0.87932	D	0	.	14.9784	0.71293	1.0:0.0:0.0:0.0	.	213	P41219	PERI_HUMAN	G	213	ENSP00000257860:E213G	ENSP00000257860:E213G	E	+	2	0	PRPH	47976513	1.000000	0.71417	0.958000	0.39756	0.996000	0.88848	7.456000	0.80751	2.188000	0.69820	0.533000	0.62120	GAA		0.567	PRPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393381.1		NM_006262	
RASAL3	64926	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	15565475	15565475	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr19:15565475G>A	ENST00000343625.7	-	12	2036	c.1951C>T	c.(1951-1953)Cgt>Tgt	p.R651C	RASAL3_ENST00000608577.1_5'Flank	NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	651					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)	Ras GTPase activator activity (GO:0005099)	p.R651C(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						TACGGGGCACGGTTGGCGAGG	0.662											OREG0025322	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	kidney(1)											28.0	32.0	30.0					19																	15565475		2038	4217	6255	SO:0001583	missense	64926				CCDS46006.1	19p13.12	2008-12-18			ENSG00000105122	ENSG00000105122			26129	protein-coding gene	gene with protein product						12477932	Standard	NM_022904		Approved	FLJ21438	uc002nbe.2	Q86YV0		ENST00000343625.7:c.1951C>T	19.37:g.15565475G>A	ENSP00000341905:p.Arg651Cys	703	Q8N2T9|Q9H735	Missense_Mutation	SNP	ENST00000343625.7	37	CCDS46006.1	.	.	.	.	.	.	.	.	.	.	G	11.00	1.511635	0.27036	.	.	ENSG00000105122	ENST00000343625	D	0.82344	-1.6	4.82	-0.713	0.11223	Rho GTPase activation protein (1);Ras GTPase-activating protein (2);	0.890365	0.09138	N	0.843437	T	0.66446	0.2790	N	0.16478	0.41	0.32349	N	0.55869	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.56318	-0.7999	10	0.42905	T	0.14	.	4.2031	0.10476	0.4411:0.0:0.3942:0.1647	.	651;651	Q86YV0-2;Q86YV0	.;RASL3_HUMAN	C	651	ENSP00000341905:R651C	ENSP00000341905:R651C	R	-	1	0	RASAL3	15426475	1.000000	0.71417	0.732000	0.30844	0.877000	0.50540	2.083000	0.41615	-0.286000	0.09076	0.561000	0.74099	CGT		0.662	RASAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461331.3		NM_022904	
RIMS1	22999	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	73001656	73001656	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr6:73001656C>G	ENST00000521978.1	+	26	3757	c.3757C>G	c.(3757-3759)Cca>Gca	p.P1253A	RIMS1_ENST00000538414.1_Missense_Mutation_p.P49A|RIMS1_ENST00000520567.1_Missense_Mutation_p.P1075A|RIMS1_ENST00000522291.1_Missense_Mutation_p.P1024A|RIMS1_ENST00000491071.2_Missense_Mutation_p.P1076A|RIMS1_ENST00000523963.1_Missense_Mutation_p.P550A|RIMS1_ENST00000348717.5_Missense_Mutation_p.P1045A|RIMS1_ENST00000264839.7_Missense_Mutation_p.P1102A|RIMS1_ENST00000517960.1_Missense_Mutation_p.P1045A|RIMS1_ENST00000518273.1_Missense_Mutation_p.P1104A|RIMS1_ENST00000425662.2_Missense_Mutation_p.P493A|RIMS1_ENST00000517827.1_Missense_Mutation_p.P559A|RIMS1_ENST00000401910.3_Missense_Mutation_p.P573A	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1253					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)	p.P1253A(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				ACAGAGAAGTCCAACACAATC	0.488																																																	1	Substitution - Missense(1)	kidney(1)											23.0	24.0	23.0					6																	73001656		1982	4134	6116	SO:0001583	missense	22999			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.3757C>G	6.37:g.73001656C>G	ENSP00000428417:p.Pro1253Ala		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	CCDS47449.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.28|12.28	1.889189|1.889189	0.33348|0.33348	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000453976;ENST00000517827;ENST00000370420;ENST00000538414|ENST00000517433	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|T	0.16597|0.14144	2.6;2.84;2.65;2.84;2.6;2.65;2.78;2.68;2.77;2.64;2.65;2.65;2.65;2.34;2.33|2.53	5.57|5.57	4.7|4.7	0.59300|0.59300	.|.	0.282938|.	0.30392|.	N|.	0.009730|.	T|T	0.06234|0.06234	0.0161|0.0161	N|N	0.22421|0.22421	0.69|0.69	0.29795|0.29795	N|N	0.832922|0.832922	B;B;B;B;P;B;B;B;B;B;B;P;P|.	0.40534|.	0.319;0.382;0.255;0.252;0.72;0.157;0.214;0.177;0.073;0.018;0.155;0.469;0.677|.	B;B;B;B;B;B;B;B;B;B;B;B;B|.	0.37601|.	0.05;0.146;0.028;0.044;0.254;0.103;0.033;0.079;0.048;0.01;0.108;0.097;0.18|.	T|T	0.24404|0.24404	-1.0161|-1.0161	10|7	0.09843|0.46703	T|T	0.71|0.11	-5.0616|-5.0616	12.9165|12.9165	0.58209|0.58209	0.0:0.9247:0.0:0.0753|0.0:0.9247:0.0:0.0753	.|.	49;49;559;550;1102;573;1024;328;1104;1045;329;1076;1253|.	B7Z6K9;B7Z7W2;B7Z3S3;E9PHF5;E9PHR1;E9PF48;E7EX08;Q5JY22;E7ERQ1;E7ENC2;Q5JY21;C9JNW6;Q86UR5|.	.;.;.;.;.;.;.;.;.;.;.;.;RIMS1_HUMAN|.	A|C	1076;1102;1076;1045;1104;1024;1102;1045;1104;1075;1024;1253;573;550;493;418;559;301;49|598	ENSP00000430101:P1076A;ENSP00000275037:P1045A;ENSP00000264839:P1102A;ENSP00000429959:P1045A;ENSP00000430408:P1104A;ENSP00000430502:P1075A;ENSP00000430932:P1024A;ENSP00000428417:P1253A;ENSP00000385649:P573A;ENSP00000428328:P550A;ENSP00000411235:P493A;ENSP00000389503:P418A;ENSP00000428367:P559A;ENSP00000359448:P301A;ENSP00000439730:P49A|ENSP00000430359:S598C	ENSP00000264839:P1102A|ENSP00000430359:S598C	P|S	+|+	1|2	0|0	RIMS1|RIMS1	73058377|73058377	0.989000|0.989000	0.36119|0.36119	0.290000|0.290000	0.24890|0.24890	0.686000|0.686000	0.39977|0.39977	3.367000|3.367000	0.52350|0.52350	1.484000|1.484000	0.48361|0.48361	0.650000|0.650000	0.86243|0.86243	CCA|TCC		0.488	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			
SDAD1	55153	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	76897076	76897076	+	Splice_Site	SNP	C	C	T			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr4:76897076C>T	ENST00000356260.5	-	5	596		c.e5+1		SDAD1_ENST00000513089.1_5'Flank|SDAD1_ENST00000395711.4_Splice_Site	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1						actin cytoskeleton organization (GO:0030036)|protein transport (GO:0015031)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal large subunit export from nucleus (GO:0000055)	nucleolus (GO:0005730)		p.?(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AGAGTACTTACTACATTCACT	0.323																																																	1	Unknown(1)	kidney(1)											146.0	129.0	135.0					4																	76897076		2202	4300	6502	SO:0001630	splice_region_variant	55153			AF132198	CCDS3573.2, CCDS75147.1	4q21.21	2010-11-24			ENSG00000198301	ENSG00000198301			25537	protein-coding gene	gene with protein product						11483580	Standard	NM_001288984		Approved	FLJ10498	uc003hje.4	Q9NVU7	OTTHUMG00000130111	ENST00000356260.5:c.477+1G>A	4.37:g.76897076C>T			Q32Q11|Q68D52|Q7Z5U4|Q9H831|Q9H9P6	Splice_Site	SNP	ENST00000356260.5	37	CCDS3573.2	.	.	.	.	.	.	.	.	.	.	C	13.72	2.321576	0.41096	.	.	ENSG00000198301	ENST00000356260;ENST00000395711	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1121	0.86678	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SDAD1	77116100	1.000000	0.71417	0.964000	0.40570	0.355000	0.29361	7.220000	0.78008	2.634000	0.89283	0.655000	0.94253	.		0.323	SDAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252418.3		NM_018115	Intron
SEPN1	57190	broad.mit.edu;hgsc.bcm.edu	37	1	26138019	26138019	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr1:26138019T>C	ENST00000374315.1	+	7	1021	c.983T>C	c.(982-984)aTa>aCa	p.I328T	SEPN1_ENST00000354177.4_Missense_Mutation_p.I328T|RP1-317E23.6_ENST00000527604.1_5'Flank|SEPN1_ENST00000361547.2_Missense_Mutation_p.I362T	NM_206926.1	NP_996809.1	Q9NZV5	SELN_HUMAN	selenoprotein N, 1	362						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	calcium ion binding (GO:0005509)	p.I362T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		ATCGGCTACATACCCCAGGTG	0.612											OREG0013258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	kidney(1)											145.0	155.0	151.0					1																	26138019		2084	4210	6294	SO:0001583	missense	57190			AF166125	CCDS41282.1, CCDS41283.1	1p36.13	2014-09-17	2004-02-13		ENSG00000162430	ENSG00000162430		"""EF-hand domain containing"""	15999	protein-coding gene	gene with protein product		606210	"""rigid spine muscular dystrophy 1"""	RSMD1, MDRS1		10608886	Standard	NM_020451		Approved	selN, RSS	uc021ojl.1	Q9NZV5	OTTHUMG00000007375	ENST00000374315.1:c.983T>C	1.37:g.26138019T>C	ENSP00000363434:p.Ile328Thr	784	A6NJG8|A8MQ64|Q6PI70|Q969F6|Q9NUI6	Missense_Mutation	SNP	ENST00000374315.1	37	CCDS41283.1	.	.	.	.	.	.	.	.	.	.	T	16.84	3.233202	0.58777	.	.	ENSG00000162430	ENST00000361547;ENST00000354177;ENST00000374315	D;D;D	0.89552	-2.53;-2.53;-2.53	5.26	4.14	0.48551	.	0.116740	0.64402	D	0.000018	T	0.79924	0.4530	N	0.19112	0.55	0.31851	N	0.622243	B;B	0.23937	0.066;0.094	B;B	0.21708	0.036;0.026	T	0.80448	-0.1378	10	0.72032	D	0.01	-11.9014	9.1499	0.36955	0.0:0.0828:0.0:0.9172	.	328;362	Q9NZV5-2;Q9NZV5	.;SELN_HUMAN	T	362;328;328	ENSP00000355141:I362T;ENSP00000346109:I328T;ENSP00000363434:I328T	ENSP00000346109:I328T	I	+	2	0	SEPN1	26010606	1.000000	0.71417	0.993000	0.49108	0.919000	0.55068	5.930000	0.70104	1.992000	0.58205	0.402000	0.26972	ATA		0.612	SEPN1-002	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000019315.2		NM_020451	
SETD2	29072	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	47079180	47079181	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	-	-	-	G	-	-	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr3:47079180_47079181insG	ENST00000409792.3	-	18	7367_7368	c.7325_7326insC	c.(7324-7326)ccafs	p.P2442fs		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2442					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CATCATATGTTGGAGTTCCCAG	0.5			"""N, F, S, Mis"""		clear cell renal carcinoma																																			Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0																																										SO:0001589	frameshift_variant	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.7326dupC	3.37:g.47079182_47079182dupG	ENSP00000386759:p.Pro2442fs		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Frame_Shift_Ins	INS	ENST00000409792.3	37	CCDS2749.2																																																																																				0.500	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2		NM_014159	
SLAMF1	6504	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	160607007	160607007	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr1:160607007C>T	ENST00000302035.6	-	2	738	c.389G>A	c.(388-390)cGc>cAc	p.R130H	SLAMF1_ENST00000355199.3_Missense_Mutation_p.R130H|SLAMF1_ENST00000235739.5_Missense_Mutation_p.R130H|SLAMF1_ENST00000538290.1_Missense_Mutation_p.R130H	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	130	Ig-like V-type.				lymphocyte activation (GO:0046649)|positive regulation of cell proliferation (GO:0008284)|regulation of catalytic activity (GO:0050790)|regulation of vesicle fusion (GO:0031338)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|phagocytic vesicle (GO:0045335)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)	p.R130H(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CAGGCAAAAGCGCTGAACTGA	0.478																																																	1	Substitution - Missense(1)	kidney(1)											92.0	92.0	92.0					1																	160607007		2203	4300	6503	SO:0001583	missense	6504			U33017	CCDS1207.1	1q23.3	2013-01-11	2003-10-29	2003-10-31	ENSG00000117090	ENSG00000117090		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10903	protein-coding gene	gene with protein product		603492	"""signaling lymphocytic activation molecule"""	SLAM		7617038	Standard	XM_005245456		Approved	CD150	uc001fwl.4	Q13291	OTTHUMG00000024006	ENST00000302035.6:c.389G>A	1.37:g.160607007C>T	ENSP00000306190:p.Arg130His		Q5W172|Q9HBE8	Missense_Mutation	SNP	ENST00000302035.6	37	CCDS1207.1	.	.	.	.	.	.	.	.	.	.	C	0.436	-0.900910	0.02472	.	.	ENSG00000117090	ENST00000302035;ENST00000235739;ENST00000538290;ENST00000355199	T;T;T;T	0.38722	1.12;1.12;1.12;1.12	4.19	-2.54	0.06307	Signaling lymphocytic activation molecule, N-terminal (1);	6.663380	0.00166	N	0.000000	T	0.03915	0.0110	N	0.01009	-1.055	0.09310	N	1	B;B	0.16802	0.012;0.019	B;B	0.08055	0.003;0.002	T	0.13602	-1.0503	10	0.40728	T	0.16	-3.9217	0.9063	0.01285	0.1666:0.3109:0.1713:0.3512	.	130;130	B4E2E4;Q13291	.;SLAF1_HUMAN	H	130	ENSP00000306190:R130H;ENSP00000235739:R130H;ENSP00000438406:R130H;ENSP00000347333:R130H	ENSP00000235739:R130H	R	-	2	0	SLAMF1	158873631	0.000000	0.05858	0.000000	0.03702	0.326000	0.28443	-0.207000	0.09384	-0.475000	0.06852	-0.339000	0.08088	CGC		0.478	SLAMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060454.1			
SLC2A3	6515	broad.mit.edu;hgsc.bcm.edu	37	12	8083142	8083142	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr12:8083142G>T	ENST00000075120.7	-	5	847	c.607C>A	c.(607-609)Cca>Aca	p.P203T		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	203					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)	p.P203T(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		GGGCAAAATGGAAGGGCTGCA	0.438																																					Colon(96;424 1461 14416 20933 23688)												1	Substitution - Missense(1)	kidney(1)											138.0	130.0	133.0					12																	8083142		2203	4300	6503	SO:0001583	missense	6515			M20681	CCDS8586.1	12p13.3	2013-05-22			ENSG00000059804	ENSG00000059804		"""Solute carriers"""	11007	protein-coding gene	gene with protein product		138170		GLUT3			Standard	NM_006931		Approved		uc001qtr.3	P11169	OTTHUMG00000133685	ENST00000075120.7:c.607C>A	12.37:g.8083142G>T	ENSP00000075120:p.Pro203Thr		B2R606|D3DUU6|Q6I9U2|Q9UG15	Missense_Mutation	SNP	ENST00000075120.7	37	CCDS8586.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.289899	0.80914	.	.	ENSG00000059804	ENST00000075120;ENST00000540978	T	0.73575	-0.76	4.29	4.29	0.51040	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.104145	0.64402	D	0.000002	D	0.86904	0.6045	M	0.87758	2.905	0.54753	D	0.999983	D;D	0.67145	0.995;0.996	D;D	0.72625	0.962;0.978	D	0.88965	0.3396	10	0.62326	D	0.03	.	14.6033	0.68456	0.0:0.0:1.0:0.0	.	129;203	F5H2H8;P11169	.;GTR3_HUMAN	T	203;129	ENSP00000075120:P203T	ENSP00000075120:P203T	P	-	1	0	SLC2A3	7974409	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	5.808000	0.69165	2.374000	0.81015	0.561000	0.74099	CCA		0.438	SLC2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257914.1		NM_006931	
SLCO1B3	28234	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	21032479	21032479	+	Silent	SNP	G	G	T	rs577498680		TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr12:21032479G>T	ENST00000381545.3	+	11	1464	c.1245G>T	c.(1243-1245)tcG>tcT	p.S415S	SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Silent_p.S415S|SLCO1B3_ENST00000553473.1_Silent_p.S415S|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Silent_p.S415S	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	415					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)	p.S415S(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	TTCTTACTTCGATGATATCCT	0.348																																																	1	Substitution - coding silent(1)	kidney(1)											93.0	87.0	89.0					12																	21032479		2203	4299	6502	SO:0001819	synonymous_variant	28234				CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.1245G>T	12.37:g.21032479G>T			E7EMT8|Q5JAR4	Silent	SNP	ENST00000381545.3	37	CCDS8684.1																																																																																				0.348	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1		NM_019844	
SMARCA2	6595	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	2039524	2039524	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr9:2039524G>A	ENST00000382203.1	+	4	623	c.414G>A	c.(412-414)atG>atA	p.M138I	SMARCA2_ENST00000357248.2_Missense_Mutation_p.M138I|SMARCA2_ENST00000382194.1_Missense_Mutation_p.M138I|RP11-264I13.2_ENST00000426860.1_RNA|SMARCA2_ENST00000349721.2_Missense_Mutation_p.M138I|SMARCA2_ENST00000491574.1_3'UTR			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	138					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.M138I(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CCAGCCCTATGTCTGGAGGAG	0.572																																																	2	Substitution - Missense(2)	kidney(2)											77.0	83.0	81.0					9																	2039524		2203	4300	6503	SO:0001583	missense	6595			D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.414G>A	9.37:g.2039524G>A	ENSP00000371638:p.Met138Ile		B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	G	11.88	1.770226	0.31320	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000450198;ENST00000439732;ENST00000382203;ENST00000382194	D;D;T;D;D	0.86627	-2.15;-2.15;0.93;-2.15;-2.15	5.46	-0.889	0.10580	.	0.315495	0.33515	N	0.004837	T	0.67353	0.2884	N	0.08118	0	0.80722	D	1	B;B	0.11235	0.004;0.003	B;B	0.08055	0.003;0.001	T	0.39057	-0.9632	10	0.23891	T	0.37	-3.5547	5.4783	0.16708	0.2944:0.4125:0.2931:0.0	.	138;138	P51531-2;P51531	.;SMCA2_HUMAN	I	138	ENSP00000265773:M138I;ENSP00000349788:M138I;ENSP00000392081:M138I;ENSP00000371638:M138I;ENSP00000371629:M138I	ENSP00000265773:M138I	M	+	3	0	SMARCA2	2029524	1.000000	0.71417	0.348000	0.25681	0.912000	0.54170	1.455000	0.35190	-0.542000	0.06249	0.655000	0.94253	ATG		0.572	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1		NM_003070	
TCHH	7062	hgsc.bcm.edu	37	1	152084216	152084216	+	Missense_Mutation	SNP	C	C	G	rs201131683	byFrequency	TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr1:152084216C>G	ENST00000368804.1	-	2	1476	c.1477G>C	c.(1477-1479)Gag>Cag	p.E493Q		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	493	9 X 28 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTCCTCCTCCTCGAGCTTC	0.672																																																	0									GLN/GLU	0,4218		0,0,2109	64.0	71.0	69.0		1477	-1.7	0.0	1		69	17,8419		0,17,4201	no	missense	TCHH	NM_007113.2	29	0,17,6310	GG,GC,CC		0.2015,0.0,0.1343	benign	493/1944	152084216	17,12637	2109	4218	6327	SO:0001583	missense	7062			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.1477G>C	1.37:g.152084216C>G	ENSP00000357794:p.Glu493Gln		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	c	7.158	0.585028	0.13749	0.0	0.002015	ENSG00000159450	ENST00000368804	T	0.04551	3.6	3.42	-1.67	0.08238	.	.	.	.	.	T	0.00695	0.0023	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.43147	-0.9409	9	0.12103	T	0.63	.	11.5902	0.50941	0.1022:0.7375:0.1603:0.0	.	493	Q07283	TRHY_HUMAN	Q	493	ENSP00000357794:E493Q	ENSP00000357794:E493Q	E	-	1	0	TCHH	150350840	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.797000	0.04570	-0.858000	0.04110	-0.574000	0.04147	GAG		0.672	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2		NM_007113	
TDRD1	56165	broad.mit.edu;ucsc.edu	37	10	115962900	115962900	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr10:115962900A>T	ENST00000369280.1	+	7	1226	c.766A>T	c.(766-768)Aga>Tga	p.R256*	TDRD1_ENST00000369281.2_Nonsense_Mutation_p.R256*|TDRD1_ENST00000422662.1_5'UTR|TDRD1_ENST00000251864.2_Nonsense_Mutation_p.R256*|TDRD1_ENST00000369282.1_Nonsense_Mutation_p.R256*			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	256					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)	p.R256*(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TTCTGATTTGAGAAGTCTACA	0.358																																																	1	Substitution - Nonsense(1)	kidney(1)											88.0	85.0	86.0					10																	115962900		2203	4300	6503	SO:0001587	stop_gained	56165			AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.766A>T	10.37:g.115962900A>T	ENSP00000358286:p.Arg256*		A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Nonsense_Mutation	SNP	ENST00000369280.1	37		.	.	.	.	.	.	.	.	.	.	A	38	6.776841	0.97829	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000369280	.	.	.	6.07	3.78	0.43462	.	0.309371	0.28901	N	0.013772	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-15.2058	6.4805	0.22060	0.5234:0.3909:0.0857:0.0	.	.	.	.	X	256	.	ENSP00000251864:R256X	R	+	1	2	TDRD1	115952890	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.496000	0.35638	1.093000	0.41377	0.477000	0.44152	AGA		0.358	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2			
TESC	54997	hgsc.bcm.edu;ucsc.edu	37	12	117513065	117513065	+	Intron	SNP	G	G	T			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr12:117513065G>T	ENST00000335209.7	-	2	315				TESC_ENST00000541210.1_Intron|TESC_ENST00000392545.4_Intron			Q96BS2	CHP3_HUMAN	tescalcin						cell differentiation (GO:0030154)|cellular response to retinoic acid (GO:0071300)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell proliferation (GO:0008285)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of sodium:proton antiporter activity (GO:0032417)|positive regulation of transcription, DNA-templated (GO:0045893)|protein maturation (GO:0051604)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of cell adhesion mediated by integrin (GO:0033628)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphatase inhibitor activity (GO:0019212)|protein homodimerization activity (GO:0042803)|protein kinase inhibitor activity (GO:0004860)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0297)		CAAACCCGCTGCCAATCTTAC	0.498																																																	0													83.0	81.0	82.0					12																	117513065		2203	4300	6503	SO:0001627	intron_variant	54997			AF443207	CCDS9183.2, CCDS9183.3, CCDS53835.1	12q24.22	2013-01-10			ENSG00000088992	ENSG00000088992		"""EF-hand domain containing"""	26065	protein-coding gene	gene with protein product	"""calcineurin-like EF hand protein 3"""	611585				11145610, 11696366, 12809501, 14661968	Standard	NM_017899		Approved	TSC, FLJ20607, CHP3	uc001twh.3	Q96BS2	OTTHUMG00000144168	ENST00000335209.7:c.128+10C>A	12.37:g.117513065G>T			F5H1Y5|Q9NWT9	RNA	SNP	ENST00000335209.7	37	CCDS9183.3																																																																																				0.498	TESC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291363.2		NM_017899	
TFR2	7036	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	100238672	100238672	+	Silent	SNP	G	G	A			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr7:100238672G>A	ENST00000462107.1	-	3	500	c.213C>T	c.(211-213)ctC>ctT	p.L71L	TFR2_ENST00000223051.3_Silent_p.L71L|TFR2_ENST00000431692.1_Silent_p.L71L			Q9UP52	TFR2_HUMAN	transferrin receptor 2	71					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transferrin receptor activity (GO:0004998)	p.L71L(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)				Gallium nitrate(DB05260)	CCCAGGGAATGAGGTTTGGCT	0.677																																																	1	Substitution - coding silent(1)	kidney(1)											21.0	24.0	23.0					7																	100238672		2202	4298	6500	SO:0001819	synonymous_variant	7036			AF053356	CCDS34707.1	7q22	2003-01-27			ENSG00000106327	ENSG00000106327			11762	protein-coding gene	gene with protein product		604720				9799793, 12130528	Standard	NM_003227		Approved	HFE3, TFRC2	uc003uvv.1	Q9UP52	OTTHUMG00000159598	ENST00000462107.1:c.213C>T	7.37:g.100238672G>A			A6NGM7|O75422|Q1HE13|Q9HA99|Q9NX67	Silent	SNP	ENST00000462107.1	37	CCDS34707.1																																																																																				0.677	TFR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356392.3		NM_003227	
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179457765	179457765	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr2:179457765C>A	ENST00000591111.1	-	250	54382	c.54158G>T	c.(54157-54159)tGc>tTc	p.C18053F	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.C10821F|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.C17126F|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.C10754F|TTN_ENST00000460472.2_Missense_Mutation_p.C10629F|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.C19694F|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18053	Fibronectin type-III 31. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.C10821F(1)|p.C17126F(1)|p.C10754F(1)|p.C10629F(1)|p.C17124F(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GACTGAATTGCATGTTGTATC	0.378																																																	5	Substitution - Missense(5)	kidney(5)											119.0	113.0	115.0					2																	179457765		1895	4131	6026	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.54158G>T	2.37:g.179457765C>A	ENSP00000465570:p.Cys18053Phe		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	10.30	1.311318	0.23821	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	6.16	4.16	0.48862	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.30947	0.0781	N	0.08118	0	0.36613	D	0.875324	B;B;P;B	0.37612	0.427;0.427;0.602;0.427	B;B;B;B	0.39617	0.305;0.305;0.305;0.214	T	0.37197	-0.9716	9	0.87932	D	0	.	4.5431	0.12067	0.0:0.5951:0.0:0.4049	.	10629;10754;10821;18053	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	F	17126;10629;10821;10754;10627	ENSP00000343764:C17126F;ENSP00000434586:C10629F;ENSP00000340554:C10821F;ENSP00000352154:C10754F	ENSP00000340554:C10821F	C	-	2	0	TTN	179166011	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.199000	0.58426	1.627000	0.50400	0.650000	0.86243	TGC		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378	
UBR2	23304	hgsc.bcm.edu;ucsc.edu	37	6	42626515	42626515	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr6:42626515G>T	ENST00000372899.1	+	29	3453	c.3195G>T	c.(3193-3195)caG>caT	p.Q1065H	UBR2_ENST00000372883.3_Missense_Mutation_p.S573I|UBR2_ENST00000372901.1_Missense_Mutation_p.Q1065H	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1065					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			AACTCTTTCAGCAGACATTAG	0.378																																																	0													84.0	85.0	85.0					6																	42626515		2203	4300	6503	SO:0001583	missense	23304			BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.3195G>T	6.37:g.42626515G>T	ENSP00000361990:p.Gln1065His		O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	CCDS4870.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.98|17.98	3.519748|3.519748	0.64634|0.64634	.|.	.|.	ENSG00000024048|ENSG00000024048	ENST00000372899;ENST00000372901|ENST00000372883	T;T|T	0.58940|0.58358	0.3;0.3|0.34	5.63|5.63	3.86|3.86	0.44501|0.44501	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.38188|0.38188	0.1031|0.1031	L|L	0.53249|0.53249	1.67|1.67	0.26122|0.26122	N|N	0.980537|0.980537	D;D|.	0.89917|.	1.0;0.99|.	D;P|.	0.75484|.	0.986;0.827|.	T|T	0.34527|0.34527	-0.9825|-0.9825	10|7	0.14252|0.87932	T|D	0.57|0	-21.1954|-21.1954	8.7984|8.7984	0.34894|0.34894	0.3472:0.0:0.6528:0.0|0.3472:0.0:0.6528:0.0	.|.	1065;1065|.	Q8IWV8-4;Q8IWV8|.	.;UBR2_HUMAN|.	H|I	1065|573	ENSP00000361990:Q1065H;ENSP00000361992:Q1065H|ENSP00000361974:S573I	ENSP00000361990:Q1065H|ENSP00000361974:S573I	Q|S	+|+	3|2	2|0	UBR2|UBR2	42734493|42734493	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	3.567000|3.567000	0.53813|0.53813	0.723000|0.723000	0.32274|0.32274	-0.259000|-0.259000	0.10710|0.10710	CAG|AGC		0.378	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2		NM_015255	
UNC13B	10497	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	35310690	35310690	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr9:35310690G>T	ENST00000378495.3	+	9	1210	c.988G>T	c.(988-990)Gaa>Taa	p.E330*	UNC13B_ENST00000396787.1_Nonsense_Mutation_p.E342*|UNC13B_ENST00000378496.4_Nonsense_Mutation_p.E330*	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	330					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)	p.E330*(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GGCAGCATGTGAACCCAAGGA	0.547																																																	1	Substitution - Nonsense(1)	kidney(1)											124.0	114.0	117.0					9																	35310690		2203	4300	6503	SO:0001587	stop_gained	10497			AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.988G>T	9.37:g.35310690G>T	ENSP00000367756:p.Glu330*		Q5VYM8	Nonsense_Mutation	SNP	ENST00000378495.3	37	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.281977	0.80692	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496	.	.	.	5.81	4.92	0.64577	.	0.728958	0.13944	N	0.351981	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-9.6761	11.6715	0.51403	0.1456:0.0:0.8544:0.0	.	.	.	.	X	342;330;330	.	ENSP00000367756:E330X	E	+	1	0	UNC13B	35300690	1.000000	0.71417	0.961000	0.40146	0.037000	0.13140	2.895000	0.48648	1.462000	0.47948	0.655000	0.94253	GAA		0.547	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1		NM_006377	
USH2A	7399	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	216052254	216052254	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr1:216052254C>T	ENST00000307340.3	-	42	8796	c.8410G>A	c.(8410-8412)Gga>Aga	p.G2804R	USH2A_ENST00000366943.2_Missense_Mutation_p.G2804R	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2804	Fibronectin type-III 14. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.G2804R(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTGCACCCTCCAAGGTACCCA	0.443										HNSCC(13;0.011)																																							1	Substitution - Missense(1)	kidney(1)											182.0	167.0	172.0					1																	216052254		2203	4300	6503	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.8410G>A	1.37:g.216052254C>T	ENSP00000305941:p.Gly2804Arg		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.706574	0.89018	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.54071	0.59;0.59	5.9	4.98	0.66077	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.159522	0.28996	N	0.013471	T	0.73225	0.3560	M	0.78916	2.43	0.49582	D	0.999802	D	0.89917	1.0	D	0.72075	0.976	T	0.77446	-0.2585	10	0.66056	D	0.02	.	16.4922	0.84205	0.1321:0.8679:0.0:0.0	.	2804	O75445	USH2A_HUMAN	R	2804	ENSP00000305941:G2804R;ENSP00000355910:G2804R	ENSP00000305941:G2804R	G	-	1	0	USH2A	214118877	1.000000	0.71417	0.864000	0.33941	0.957000	0.61999	7.294000	0.78760	1.482000	0.48325	0.650000	0.86243	GGA		0.443	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1		NM_007123	
VARS	7407	broad.mit.edu	37	6	31752484	31752485	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	GA	GA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr6:31752484_31752485delGA	ENST00000375663.3	-	11	1794_1795	c.1354_1355delTC	c.(1354-1356)tcafs	p.S452fs	VARS_ENST00000482996.1_5'Flank|VARS_ENST00000444930.2_Frame_Shift_Del_p.S157fs	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	452					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CACAGCTGCTGAGAGTTTCTGG	0.594																																																	0																																										SO:0001589	frameshift_variant	7407			BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	12651	protein-coding gene	gene with protein product	"""valine tRNA ligase 1, cytoplasmic"""	192150	"""valyl-tRNA synthetase 2"""	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.1354_1355delTC	6.37:g.31752486_31752487delGA	ENSP00000364815:p.Ser452fs		B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Frame_Shift_Del	DEL	ENST00000375663.3	37	CCDS34412.1																																																																																				0.594	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2		NM_006295	
VHL	7428	hgsc.bcm.edu	37	3	10183817	10183817	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BP-4161-01A-02W-1382-10	TCGA-BP-4161-11A-01W-1244-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina MiSeq	13124411-f98d-4603-8022-2e0fd44ae880	63cd168a-94e8-4ee0-96ca-db4199aa6b73	g.chr3:10183817C>T	ENST00000256474.2	+	1	1126	c.286C>T	c.(286-288)Cag>Tag	p.Q96*	VHL_ENST00000345392.2_Nonsense_Mutation_p.Q96*|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	96			Missing (in VHLD; type I).|Q -> P (in VHLD; type I). {ECO:0000269|PubMed:8730290}.		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.Q96*(7)|p.P95_P99del(1)|p.E94fs*62(1)|p.R60fs*35(1)|p.E94fs*34(1)|p.Q96fs*36(1)|p.Q96del(1)|p.Q96fs*63(1)|p.P95fs*59(1)|p.Q96fs*61(1)|p.Q96fs*65(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)		CGGCGAGCCGCAGCCCTACCC	0.697		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"""	17	Substitution - Nonsense(7)|Deletion - Frameshift(6)|Deletion - In frame(2)|Insertion - Frameshift(2)	kidney(16)|soft_tissue(1)	GRCh37	CM982002	VHL	M							13.0	15.0	14.0					3																	10183817		1792	3692	5484	SO:0001587	stop_gained	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.286C>T	3.37:g.10183817C>T	ENSP00000256474:p.Gln96*		B2RE45|Q13599|Q6PDA9	Nonsense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	36	5.615161	0.96649	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	.	.	.	5.16	4.19	0.49359	.	0.335703	0.32055	N	0.006651	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.7234	14.0258	0.64584	0.1615:0.8385:0.0:0.0	.	.	.	.	X	96	.	ENSP00000256474:Q96X	Q	+	1	0	VHL	10158817	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.360000	0.44151	2.416000	0.81992	0.550000	0.68814	CAG		0.697	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
WIZ	58525	broad.mit.edu	37	19	15559003	15559003	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr19:15559003C>T	ENST00000389282.4	-	2	329	c.116G>A	c.(115-117)gGg>gAg	p.G39E	WIZ_ENST00000263381.7_Missense_Mutation_p.G39E|MIR1470_ENST00000600745.1_RNA			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	39					positive regulation of nuclear cell cycle DNA replication (GO:0010571)|protein heterotrimerization (GO:0070208)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.G39E(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						GCCACCTTCCCCCTCAGCAGC	0.642																																																	2	Substitution - Missense(2)	kidney(2)											61.0	69.0	67.0					19																	15559003		1987	4131	6118	SO:0001583	missense	58525			AK091183	CCDS42516.1	19p13.12	2012-10-05	2007-01-18		ENSG00000011451	ENSG00000011451		"""Zinc fingers, C2H2-type"""	30917	protein-coding gene	gene with protein product			"""WIZ zinc finger"""			9795207, 12226707	Standard	NM_021241		Approved	ZNF803	uc002nbb.4	O95785		ENST00000389282.4:c.116G>A	19.37:g.15559003C>T	ENSP00000373933:p.Gly39Glu		B3KVH1|B7ZM82|M0QY21|Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	Missense_Mutation	SNP	ENST00000389282.4	37		.	.	.	.	.	.	.	.	.	.	C	19.26	3.792927	0.70452	.	.	ENSG00000011451	ENST00000389282;ENST00000263381	T	0.08370	3.1	3.67	2.53	0.30540	.	.	.	.	.	T	0.16599	0.0399	.	.	.	0.80722	D	1	D	0.61080	0.989	P	0.55923	0.787	T	0.00948	-1.1504	8	0.66056	D	0.02	-16.2584	7.7466	0.28873	0.2497:0.7503:0.0:0.0	.	39	O95785-2	.	E	39	ENSP00000373933:G39E	ENSP00000263381:G39E	G	-	2	0	WIZ	15420003	0.885000	0.30320	1.000000	0.80357	0.998000	0.95712	1.212000	0.32394	2.043000	0.60533	0.561000	0.74099	GGG		0.642	WIZ-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_021241	
ZNF221	7638	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	44469419	44469419	+	Silent	SNP	C	C	T			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr19:44469419C>T	ENST00000251269.5	+	5	571	c.243C>T	c.(241-243)ttC>ttT	p.F81F	ZNF221_ENST00000587682.1_Silent_p.F81F|ZNF221_ENST00000592350.1_Silent_p.F81F	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	81	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F81F(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				CTTTCCACTTCTTAGGGAAGG	0.403																																																	1	Substitution - coding silent(1)	kidney(1)											104.0	98.0	100.0					19																	44469419		2203	4300	6503	SO:0001819	synonymous_variant	7638			AF187987	CCDS12633.1	19q13.31	2013-01-08				ENSG00000159905		"""Zinc fingers, C2H2-type"", ""-"""	13014	protein-coding gene	gene with protein product							Standard	NM_013359		Approved		uc002oxx.2	Q9UK13		ENST00000251269.5:c.243C>T	19.37:g.44469419C>T			B2RAI6|Q2M2H2|Q9P1U8	Silent	SNP	ENST00000251269.5	37	CCDS12633.1																																																																																				0.403	ZNF221-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460068.1			
ZNF285	26974	hgsc.bcm.edu;ucsc.edu	37	19	44892225	44892225	+	Missense_Mutation	SNP	T	T	G	rs114985922	byFrequency	TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr19:44892225T>G	ENST00000330997.4	-	4	246	c.182A>C	c.(181-183)aAg>aCg	p.K61T	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Missense_Mutation_p.K68T|ZNF285_ENST00000544719.2_Missense_Mutation_p.K61T	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	61	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K61T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						ACTTAACCCCTTTGCCTGAAG	0.403																																																	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)											82.0	86.0	84.0					19																	44892225		2202	4299	6501	SO:0001583	missense	26974			AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"""Zinc fingers, C2H2-type"", ""-"""	13079	protein-coding gene	gene with protein product			"""zinc finger protein 285A"""	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.182A>C	19.37:g.44892225T>G	ENSP00000333595:p.Lys61Thr		Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	37	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	T	6.972	0.549372	0.13374	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.06449	3.3	3.86	-2.02	0.07388	Krueppel-associated box (2);	.	.	.	.	T	0.03477	0.0100	N	0.22421	0.69	0.09310	N	1	B;B	0.26363	0.147;0.147	B;B	0.17433	0.018;0.018	T	0.47262	-0.9131	9	0.17832	T	0.49	.	6.3993	0.21630	0.0:0.1093:0.5041:0.3865	.	85;61	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	T	84;61	ENSP00000333595:K61T	ENSP00000333595:K61T	K	-	2	0	ZNF285	49584065	0.000000	0.05858	0.000000	0.03702	0.243000	0.25628	-2.025000	0.01435	-0.256000	0.09473	0.373000	0.22412	AAG		0.403	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1		NM_152354	
ZNF687	57592	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	151259628	151259628	+	Missense_Mutation	SNP	A	A	T	rs149043825	byFrequency	TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr1:151259628A>T	ENST00000368879.2	+	2	959	c.861A>T	c.(859-861)gaA>gaT	p.E287D		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	287	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E287D(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	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)			TGAAGGAAGAAGATGATGATG	0.607													A|||	2	0.000399361	0.0008	0.0	5008	,	,		19426	0.0		0.001	False		,,,				2504	0.0																1	Substitution - Missense(1)	kidney(1)						A	ASP/GLU	1,4405		0,1,2202	52.0	56.0	55.0		861	0.5	0.7	1	dbSNP_134	55	0,8600		0,0,4300	yes	missense	ZNF687	NM_020832.1	45	0,1,6502	TT,TA,AA		0.0,0.0227,0.0077	possibly-damaging	287/1238	151259628	1,13005	2203	4300	6503	SO:0001583	missense	57592				CCDS992.1	1q21.2	2008-05-02			ENSG00000143373	ENSG00000143373			29277	protein-coding gene	gene with protein product		610568				10718198	Standard	NM_020832		Approved	KIAA1441	uc001exq.3	Q8N1G0	OTTHUMG00000012347	ENST00000368879.2:c.861A>T	1.37:g.151259628A>T	ENSP00000357874:p.Glu287Asp		D3DV17|Q68DQ8|Q9H937|Q9P2A7	Missense_Mutation	SNP	ENST00000368879.2	37		2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	A	11.61	1.689576	0.29962	2.27E-4	0.0	ENSG00000143373	ENST00000336715;ENST00000324048;ENST00000368879	T;T;T	0.00940	5.52;5.52;5.84	4.8	0.529	0.17095	.	0.000000	0.36200	N	0.002736	T	0.00695	0.0023	L	0.29908	0.895	0.24192	N	0.995547	D;D;D	0.61697	0.99;0.984;0.99	D;D;D	0.73380	0.98;0.956;0.98	T	0.56232	-0.8013	9	.	.	.	.	4.9561	0.14041	0.551:0.1513:0.2978:0.0	.	287;287;287	Q8N1G0-2;Q8N1G0;F8WCX2	.;ZN687_HUMAN;.	D	287	ENSP00000336620:E287D;ENSP00000319829:E287D;ENSP00000357874:E287D	.	E	+	3	2	ZNF687	149526252	0.122000	0.22280	0.661000	0.29709	0.196000	0.23810	0.206000	0.17375	0.046000	0.15833	0.459000	0.35465	GAA		0.607	ZNF687-201	KNOWN	basic	protein_coding	protein_coding			NM_020832	
PTEN	5728	broad.mit.edu	37	10	89725042	89725042	+	Splice_Site	SNP	A	A	G			TCGA-BP-4161-01A-02D-1386-10	TCGA-BP-4161-11A-01D-1251-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM	.		Illumina GAIIx	1f164308-3c94-4aca-9592-64eedcabf95f	7ab9f3c3-88b7-4d39-be66-f4ea0798274b	g.chr10:89725042A>G	ENST00000371953.3	+	9	2383		c.e9-1			NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog						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.?(8)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(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)		TTCTTTCTCTAGGTGAAGCTG	0.333		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"""	55	Whole gene deletion(37)|Deletion - Frameshift(9)|Unknown(8)|Deletion - In frame(1)	prostate(16)|central_nervous_system(13)|skin(5)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|endometrium(3)|breast(3)|ovary(3)|urinary_tract(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|kidney(1)	GRCh37	CS090868	PTEN	S							42.0	39.0	40.0					10																	89725042		2203	4300	6503	SO:0001630	splice_region_variant	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.1027-1A>G	10.37:g.89725042A>G			B2R904|F2YHV0|O00633|O02679|Q6ICT7	Splice_Site	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	A	15.16	2.749955	0.49257	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6156	0.76764	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTEN	89715022	1.000000	0.71417	0.987000	0.45799	0.968000	0.65278	8.915000	0.92740	2.142000	0.66516	0.477000	0.44152	.		0.333	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1		NM_000314	Intron
