#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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
ABHD3	171586	hgsc.bcm.edu;ucsc.edu	37	18	19239274	19239274	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr18:19239274delA	ENST00000289119.2	-	6	838	c.699delT	c.(697-699)attfs	p.I233fs	RP11-13N13.5_ENST00000584148.1_RNA|ABHD3_ENST00000580981.1_Frame_Shift_Del_p.I180fs|ABHD3_ENST00000578270.1_Frame_Shift_Del_p.I38fs	NM_138340.4	NP_612213.2	Q8WU67	ABHD3_HUMAN	abhydrolase domain containing 3	233						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(2)	10						TTTTGGACCCAATTTTGCCCA	0.408																																																	0													79.0	79.0	79.0					18																	19239274		2203	4300	6503	SO:0001589	frameshift_variant	171586			AK024880	CCDS32802.1	18q11.1	2011-02-16			ENSG00000158201	ENSG00000158201		"""Abhydrolase domain containing"""	18718	protein-coding gene	gene with protein product		612197					Standard	NM_138340		Approved	LABH3	uc002ktl.2	Q8WU67		ENST00000289119.2:c.699delT	18.37:g.19239274delA	ENSP00000289119:p.Ile233fs	Somatic		WXS	Illumina HiSeq	Phase_I	B0YIV0|B7Z5C2|O43411	Frame_Shift_Del	DEL	ENST00000289119.2	37	CCDS32802.1																																																																																				0.408	ABHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444757.1			
ACSF2	80221	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	48540792	48540792	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr17:48540792C>A	ENST00000300441.4	+	8	1029	c.925C>A	c.(925-927)Ctg>Atg	p.L309M	ACSF2_ENST00000541920.1_Missense_Mutation_p.L149M|ACSF2_ENST00000504392.1_Missense_Mutation_p.L266M|ACSF2_ENST00000502667.1_Missense_Mutation_p.L296M|ACSF2_ENST00000427954.2_Missense_Mutation_p.L334M	NM_025149.4	NP_079425.3	Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	309					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ligase activity (GO:0016874)	p.L309M(1)		endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GCCCAACCCCCTGTACCATTG	0.582																																																	1	Substitution - Missense(1)	kidney(1)											104.0	89.0	94.0					17																	48540792		2203	4300	6503	SO:0001583	missense	80221			AK024573, BC012053	CCDS11567.1, CCDS74103.1, CCDS74104.1, CCDS74105.1	17q21.33	2007-10-17			ENSG00000167107	ENSG00000167107		"""Acyl-CoA synthetase family"""	26101	protein-coding gene	gene with protein product		610465				17762044	Standard	NM_001288968		Approved	FLJ20920, ACSMW	uc002iqu.2	Q96CM8	OTTHUMG00000162128	ENST00000300441.4:c.925C>A	17.37:g.48540792C>A	ENSP00000300441:p.Leu309Met	Somatic		WXS	Illumina HiSeq	Phase_I	B4DFQ6|B4DHT5|B4DUF5|Q9H7G2	Missense_Mutation	SNP	ENST00000300441.4	37	CCDS11567.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.223162	0.58668	.	.	ENSG00000167107	ENST00000300441;ENST00000541920;ENST00000504392;ENST00000427954;ENST00000502667	T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68	4.8	1.65	0.23941	AMP-dependent synthetase/ligase (1);	0.072669	0.56097	D	0.000025	T	0.57725	0.2073	L	0.55213	1.73	0.54753	D	0.999981	D;D;D;D	0.65815	0.977;0.995;0.977;0.977	D;D;D;D	0.70935	0.971;0.971;0.971;0.971	T	0.54450	-0.8292	10	0.56958	D	0.05	-14.6754	8.8625	0.35267	0.0:0.7481:0.0:0.2519	.	296;334;266;309	B4DHT5;B4DFQ6;E9PF16;Q96CM8	.;.;.;ACSF2_HUMAN	M	309;149;266;334;296	ENSP00000300441:L309M;ENSP00000437987:L149M;ENSP00000425964:L266M;ENSP00000401831:L334M;ENSP00000421884:L296M	ENSP00000300441:L309M	L	+	1	2	ACSF2	45895791	0.949000	0.32298	0.996000	0.52242	0.922000	0.55478	1.984000	0.40658	0.204000	0.20548	0.655000	0.94253	CTG		0.582	ACSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367423.3		NM_025149	
ADCK3	56997	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	227171879	227171879	+	Silent	SNP	G	G	A			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr1:227171879G>A	ENST00000366779.1	+	16	4112	c.1341G>A	c.(1339-1341)ctG>ctA	p.L447L	ADCK3_ENST00000478406.1_3'UTR|ADCK3_ENST00000458507.2_Silent_p.L168L|ADCK3_ENST00000433743.2_Silent_p.L121L|ADCK3_ENST00000366778.1_Silent_p.L395L|ADCK3_ENST00000366777.3_Silent_p.L447L			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	447	Protein kinase.				cell death (GO:0008219)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.L447L(1)|p.L168L(1)		endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						CCACAGAGCTGGTGTCTGGCT	0.627																																																	2	Substitution - coding silent(2)	kidney(2)											51.0	44.0	46.0					1																	227171879		2203	4300	6503	SO:0001819	synonymous_variant	56997			AJ278126	CCDS1557.1	1q42.11	2011-05-03	2010-10-01	2010-10-01	ENSG00000163050	ENSG00000163050			16812	protein-coding gene	gene with protein product	"""coenzyme Q8 homolog (yeast)"""	606980	"""chaperone-ABC1 (activity of bc1 complex, S.pombe)-like"", ""chaperone, ABC1 activity of bc1 complex like (S. pombe)"", ""chaperone, ABC1 activity of bc1 complex homolog (S. pombe)"""	CABC1			Standard	NM_020247		Approved	COQ8, SCAR9	uc001hqn.1	Q8NI60	OTTHUMG00000037621	ENST00000366779.1:c.1341G>A	1.37:g.227171879G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q5T7A5|Q63HK0|Q8NCJ6|Q9HBQ1|Q9NQ67	Silent	SNP	ENST00000366779.1	37	CCDS1557.1																																																																																				0.627	ADCK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091712.1		NM_020247	
AGAP6	414189	hgsc.bcm.edu	37	10	51748684	51748684	+	Frame_Shift_Del	DEL	G	G	-	rs61848260	byFrequency	TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr10:51748684delG	ENST00000374056.4	+	1	607	c.209delG	c.(208-210)cggfs	p.R70fs	AGAP6_ENST00000412531.3_Frame_Shift_Del_p.R70fs			Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	70				R -> Q (in Ref. 2; BC131545). {ECO:0000305}.	regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						GTTCGTGACCGGGAGATGCCT	0.592																																																	0																																										SO:0001589	frameshift_variant	414189				CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23466	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 3"""	CTGLF3			Standard	NM_001077665		Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000374056.4:c.209delG	10.37:g.51748684delG	ENSP00000363168:p.Arg70fs	Somatic		WXS	Illumina HiSeq	Phase_I		Frame_Shift_Del	DEL	ENST00000374056.4	37																																																																																					0.592	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_001077665	
ARFGEF1	10565	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	68178355	68178355	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr8:68178355G>A	ENST00000262215.3	-	14	2398	c.2009C>T	c.(2008-2010)tCa>tTa	p.S670L	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.S124L	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	670					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)	p.S670L(1)		breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TGATGATGTTGACTCCAGGGA	0.388																																																	1	Substitution - Missense(1)	kidney(1)											165.0	153.0	157.0					8																	68178355		2202	4300	6502	SO:0001583	missense	10565			AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.2009C>T	8.37:g.68178355G>A	ENSP00000262215:p.Ser670Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	G	35	5.508751	0.96386	.	.	ENSG00000066777	ENST00000520381;ENST00000262215	T;T	0.22336	2.82;1.96	5.59	5.59	0.84812	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.46347	0.1388	M	0.69185	2.1	0.80722	D	1	D;P	0.76494	0.999;0.81	D;B	0.72982	0.979;0.389	T	0.13764	-1.0497	10	0.33141	T	0.24	.	19.5844	0.95485	0.0:0.0:1.0:0.0	.	670;124	Q9Y6D6;E5RIF2	BIG1_HUMAN;.	L	124;670	ENSP00000428429:S124L;ENSP00000262215:S670L	ENSP00000262215:S670L	S	-	2	0	ARFGEF1	68340909	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.771000	0.98977	2.638000	0.89438	0.585000	0.79938	TCA		0.388	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4		NM_006421	
ARSH	347527	broad.mit.edu	37	X	2928175	2928175	+	Missense_Mutation	SNP	G	G	T	rs143754233	byFrequency	TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chrX:2928175G>T	ENST00000381130.2	+	2	197	c.197G>T	c.(196-198)cGg>cTg	p.R66L		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	66					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.R66Q(1)|p.R66L(1)		breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CTGACCGGCCGGTACCCCATC	0.483																																																	2	Substitution - Missense(2)	kidney(1)|endometrium(1)											50.0	38.0	43.0					X																	2928175		2203	4300	6503	SO:0001583	missense	347527			AY875940	CCDS35198.1	Xp22.33	2013-02-14	2006-03-07		ENSG00000205667	ENSG00000205667		"""Arylsulfatase family"""	32488	protein-coding gene	gene with protein product		300586	"""arylsulfatase H"""			16174644	Standard	NM_001011719		Approved		uc011mhj.2	Q5FYA8	OTTHUMG00000159612	ENST00000381130.2:c.197G>T	X.37:g.2928175G>T	ENSP00000370522:p.Arg66Leu	Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000381130.2	37	CCDS35198.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.391730	0.62066	.	.	ENSG00000205667	ENST00000381130	D	0.98717	-5.09	3.58	3.58	0.41010	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.059029	0.64402	D	0.000003	D	0.99155	0.9708	M	0.88979	2.995	0.52501	D	0.999955	D	0.89917	1.0	D	0.97110	1.0	D	0.99253	1.0888	10	0.72032	D	0.01	.	14.8652	0.70409	0.0:0.0:1.0:0.0	.	66	Q5FYA8	ARSH_HUMAN	L	66	ENSP00000370522:R66L	ENSP00000370522:R66L	R	+	2	0	ARSH	2938175	1.000000	0.71417	0.150000	0.22450	0.426000	0.31534	6.004000	0.70709	1.573000	0.49748	0.600000	0.82982	CGG		0.483	ARSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356489.1		NM_001011719	
ATG9B	285973	broad.mit.edu	37	7	150714122	150714122	+	Splice_Site	SNP	C	C	T			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr7:150714122C>T	ENST00000494791.1	-	9	2365		c.e9+1		ATG9B_ENST00000377974.2_Splice_Site|ATG9B_ENST00000444312.1_Splice_Site|ATG9B_ENST00000605938.1_Splice_Site			Q674R7	ATG9B_HUMAN	autophagy related 9B						autophagic vacuole assembly (GO:0000045)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)		p.?(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTGGGACTCACCAGGGGCGAG	0.652																																																	1	Unknown(1)	kidney(1)											9.0	13.0	12.0					7																	150714122		1997	4127	6124	SO:0001630	splice_region_variant	285973			AK027791		7q36	2014-02-12	2012-06-06	2005-09-11	ENSG00000181652	ENSG00000181652			21899	protein-coding gene	gene with protein product		612205	"""nitric oxide synthase 3 antisense"", ""ATG9 autophagy related 9 homolog B (S. cerevisiae)"""	NOS3AS		15234981, 15755735	Standard	NM_173681		Approved	FLJ14885, APG9L2, SONE	uc011kvc.2	Q674R7	OTTHUMG00000158634	ENST00000494791.1:c.2206+1G>A	7.37:g.150714122C>T		Somatic		WXS	Illumina GAIIx	Phase_I	A1A5D3|Q6JRW5|Q8N8I8	Splice_Site	SNP	ENST00000494791.1	37		.	.	.	.	.	.	.	.	.	.	C	12.92	2.082486	0.36758	.	.	ENSG00000248602	ENST00000377974;ENST00000444312;ENST00000397266	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5113	0.84286	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AC010973.1	150345055	1.000000	0.71417	0.981000	0.43875	0.298000	0.27526	4.184000	0.58323	2.485000	0.83878	0.561000	0.74099	.		0.652	ATG9B-001	KNOWN	non_canonical_U12|basic	processed_transcript	protein_coding	OTTHUMT00000351543.2		NM_173681	Intron
BRWD1	54014	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	40559338	40559338	+	Missense_Mutation	SNP	C	C	A	rs140524582		TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr21:40559338C>A	ENST00000333229.2	-	42	6904	c.6577G>T	c.(6577-6579)Gtt>Ttt	p.V2193F	AF129408.17_ENST00000608767.1_RNA	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	2193					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.V2193F(1)		cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TCTCTAGGAACAAATTCTGAA	0.358																																					Melanoma(170;988 1986 4794 16843 39731)												1	Substitution - Missense(1)	kidney(1)						C	PHE/VAL,	0,4406		0,0,2203	48.0	46.0	47.0		6577,	4.4	1.0	21	dbSNP_134	47	1,8599		0,1,4299	no	missense,utr-3	BRWD1	NM_018963.4,NM_033656.3	50,	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	possibly-damaging,	2193/2321,	40559338	1,13005	2203	4300	6503	SO:0001583	missense	54014			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.6577G>T	21.37:g.40559338C>A	ENSP00000330753:p.Val2193Phe	Somatic		WXS	Illumina HiSeq	Phase_I	C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.581640	0.46006	0.0	1.16E-4	ENSG00000185658	ENST00000333229	T	0.58358	0.34	5.31	4.42	0.53409	.	1.132070	0.06599	N	0.753439	T	0.52837	0.1759	L	0.53249	1.67	0.80722	D	1	P	0.40476	0.718	B	0.42422	0.387	T	0.40117	-0.9580	10	0.40728	T	0.16	-5.8413	7.838	0.29382	0.0:0.7755:0.0:0.2245	.	2193	Q9NSI6	BRWD1_HUMAN	F	2193	ENSP00000330753:V2193F	ENSP00000330753:V2193F	V	-	1	0	BRWD1	39481208	0.667000	0.27484	1.000000	0.80357	0.996000	0.88848	0.273000	0.18662	1.367000	0.46095	0.655000	0.94253	GTT		0.358	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3		NM_033656	
ST20	400410	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	80215117	80215117	+	Intron	SNP	T	T	C			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr15:80215117T>C	ENST00000485386.1	-	1	251				ST20-MTHFS_ENST00000494999.1_Intron|C15ORF37_ENST00000542003.1_5'Flank|C15orf37_ENST00000560255.1_Start_Codon_SNP_p.M1T|ST20-MTHFS_ENST00000479961.1_Intron			Q9HBF5	ST20_HUMAN	suppressor of tumorigenicity 20						extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)	mitochondrial outer membrane (GO:0005741)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.M1T(1)		kidney(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						ACATCCAAAATGCCCAGACCA	0.562																																																	1	Substitution - Missense(1)	kidney(1)											44.0	49.0	48.0					15																	80215117		1963	4145	6108	SO:0001627	intron_variant	283687			AF249277	CCDS42067.1	15q25.1	2007-07-16				ENSG00000180953			33520	protein-coding gene	gene with protein product							Standard	NM_001100879		Approved	HCCS-1		Q9HBF5		ENST00000485386.1:c.10+676A>G	15.37:g.80215117T>C		Somatic		WXS	Illumina HiSeq	Phase_I		RNA	SNP	ENST00000485386.1	37	CCDS42067.1																																																																																				0.562	ST20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416729.1			
SCP2D1	140856	hgsc.bcm.edu	37	20	18794843	18794843	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr20:18794843delT	ENST00000377428.2	+	1	474	c.384delT	c.(382-384)gctfs	p.A128fs	C20orf78_ENST00000278779.4_Intron|C20orf78_ENST00000463425.1_5'Flank	NM_178483.2	NP_848578.1	Q9UJQ7	SCP2D_HUMAN	SCP2 sterol-binding domain containing 1	128	SCP2.																CGCAGAAGGCTTTCCTTGCCG	0.478																																																	0													54.0	59.0	58.0					20																	18794843		2203	4300	6503	SO:0001589	frameshift_variant	0			AL035563	CCDS13139.1	20p11.23	2012-10-29	2012-10-29	2012-10-29	ENSG00000132631	ENSG00000132631			16211	protein-coding gene	gene with protein product	"""sterol carrier protein 2-like protein"""		"""chromosome 20 open reading frame 79"""	C20orf79		16501878	Standard	NM_178483		Approved	dJ1068E13.2, HSD22	uc002wrk.3	Q9UJQ7	OTTHUMG00000031983	ENST00000377428.2:c.384delT	20.37:g.18794843delT	ENSP00000366645:p.Ala128fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q548A4	Frame_Shift_Del	DEL	ENST00000377428.2	37	CCDS13139.1																																																																																				0.478	SCP2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078193.1		NM_178483	
SOGA1	140710	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	35414908	35414908	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr20:35414908C>A	ENST00000357779.3	-	15	4578	c.4252G>T	c.(4252-4254)Gca>Tca	p.A1418S	SOGA1_ENST00000456801.2_Missense_Mutation_p.A1259S|SOGA1_ENST00000279034.6_Intron|SOGA1_ENST00000237536.4_Missense_Mutation_p.A1656S			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	1418					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.A1656S(2)		endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						GGGGGGAGTGCCCTCTCCTCC	0.657																																																	2	Substitution - Missense(2)	kidney(2)											41.0	46.0	44.0					20																	35414908		692	1591	2283	SO:0001583	missense	0			AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""		"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.4252G>T	20.37:g.35414908C>A	ENSP00000350424:p.Ala1418Ser	Somatic		WXS	Illumina HiSeq	Phase_I	A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Missense_Mutation	SNP	ENST00000357779.3	37		.	.	.	.	.	.	.	.	.	.	C	16.44	3.122955	0.56613	.	.	ENSG00000149639	ENST00000237536;ENST00000456801;ENST00000357779	T;T;T	0.19669	2.13;2.16;2.15	4.82	1.73	0.24493	.	0.239831	0.40469	N	0.001092	T	0.17152	0.0412	L	0.29908	0.895	0.29438	N	0.859379	.	.	.	.	.	.	T	0.07654	-1.0761	8	0.66056	D	0.02	-2.8887	6.7843	0.23665	0.3147:0.5986:0.0:0.0867	.	.	.	.	S	1656;1259;1418	ENSP00000237536:A1656S;ENSP00000413886:A1259S;ENSP00000350424:A1418S	ENSP00000237536:A1656S	A	-	1	0	KIAA0889	34848322	0.991000	0.36638	0.851000	0.33527	0.676000	0.39594	1.069000	0.30641	0.709000	0.31976	0.462000	0.41574	GCA		0.657	SOGA1-201	KNOWN	basic	protein_coding	protein_coding			NM_199181	
C3	718	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	6697533	6697533	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr19:6697533C>T	ENST00000245907.6	-	21	2710	c.2618G>A	c.(2617-2619)tGc>tAc	p.C873Y		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	873					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)	p.C873Y(1)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	GGCCAGGCTGCAGAAGGCTGG	0.602																																																	1	Substitution - Missense(1)	kidney(1)											95.0	75.0	82.0					19																	6697533		2203	4300	6503	SO:0001583	missense	718			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2618G>A	19.37:g.6697533C>T	ENSP00000245907:p.Cys873Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.925044	0.92319	.	.	ENSG00000125730	ENST00000245907	T	0.37411	1.2	5.96	5.96	0.96718	.	0.089312	0.85682	D	0.000000	T	0.68632	0.3022	M	0.89840	3.065	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	T	0.69921	-0.5014	10	0.40728	T	0.16	.	19.1907	0.93664	0.0:1.0:0.0:0.0	.	873	P01024	CO3_HUMAN	Y	873	ENSP00000245907:C873Y	ENSP00000245907:C873Y	C	-	2	0	C3	6648533	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.015000	0.76387	2.831000	0.97527	0.650000	0.86243	TGC		0.602	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2		NM_000064	
C5orf42	65250	broad.mit.edu	37	5	37122589	37122589	+	Splice_Site	SNP	A	A	G			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr5:37122589A>G	ENST00000508244.1	-	46	8891	c.8798T>C	c.(8797-8799)cTt>cCt	p.L2933P	C5orf42_ENST00000274258.7_Splice_Site_p.L1831P|C5orf42_ENST00000512288.1_Intron|C5orf42_ENST00000425232.2_Splice_Site_p.L2933P			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2933						integral component of membrane (GO:0016021)		p.L2933P(1)|p.L1831P(1)		breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			AGTCATGTAAAGCTGCATAAA	0.348																																																	2	Substitution - Missense(2)	kidney(2)											196.0	182.0	187.0					5																	37122589		2203	4300	6503	SO:0001630	splice_region_variant	65250				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.8797-1T>C	5.37:g.37122589A>G		Somatic		WXS	Illumina GAIIx	Phase_I	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	A	17.03	3.285232	0.59867	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.9	4.67	0.58626	.	0.831259	0.11082	N	0.601729	T	0.47210	0.1433	L	0.29908	0.895	0.45342	D	0.998334	D;D	0.56035	0.974;0.969	P;P	0.54100	0.66;0.742	T	0.26155	-1.0111	10	0.41790	T	0.15	.	8.6637	0.34108	0.8305:0.0:0.0:0.1695	.	2933;1831	E9PH94;Q9H799	.;CE042_HUMAN	P	2933;2933;1831;1999	ENSP00000421690:L2933P;ENSP00000389014:L2933P;ENSP00000274258:L1831P;ENSP00000424223:L1999P	ENSP00000274258:L1831P	L	-	2	0	C5orf42	37158346	0.998000	0.40836	0.999000	0.59377	0.718000	0.41266	2.518000	0.45537	2.254000	0.74563	0.482000	0.46254	CTT		0.348	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1		NM_023073	Missense_Mutation
CEP112	201134	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	64059172	64059172	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr17:64059172A>T	ENST00000392769.2	-	11	1201	c.983T>A	c.(982-984)gTt>gAt	p.V328D	CEP112_ENST00000535342.2_Missense_Mutation_p.V328D|CEP112_ENST00000537949.1_Missense_Mutation_p.V286D|CEP112_ENST00000541355.1_5'UTR	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	328					receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)		p.V328D(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						CTCTCTGATAACTTGACAGTC	0.333																																																	2	Substitution - Missense(2)	kidney(2)											112.0	100.0	104.0					17																	64059172		2201	4297	6498	SO:0001583	missense	0			AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"""coiled-coil domain containing 46"""	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.983T>A	17.37:g.64059172A>T	ENSP00000376522:p.Val328Asp	Somatic		WXS	Illumina HiSeq	Phase_I	Q6PIB5|Q8NCR4|Q8NFR4	Missense_Mutation	SNP	ENST00000392769.2	37	CCDS32710.1	.	.	.	.	.	.	.	.	.	.	A	16.27	3.075489	0.55646	.	.	ENSG00000154240	ENST00000535342;ENST00000392769;ENST00000537949	T;T;T	0.48522	0.81;0.81;0.82	5.27	5.27	0.74061	.	0.322175	0.29972	N	0.010731	T	0.49474	0.1559	L	0.54323	1.7	0.80722	D	1	P;P;P	0.40875	0.693;0.731;0.693	P;B;P	0.46975	0.533;0.347;0.533	T	0.39623	-0.9605	10	0.12430	T	0.62	-4.658	14.1801	0.65568	1.0:0.0:0.0:0.0	.	286;286;328	F5GYE8;A2RRR7;Q8N8E3	.;.;CE112_HUMAN	D	328;328;286	ENSP00000442784:V328D;ENSP00000376522:V328D;ENSP00000440775:V286D	ENSP00000376522:V328D	V	-	2	0	CEP112	61489634	1.000000	0.71417	0.956000	0.39512	0.961000	0.63080	6.234000	0.72326	1.963000	0.57068	0.477000	0.44152	GTT		0.333	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446582.1		NM_145036	
CCDC61	729440	broad.mit.edu;ucsc.edu	37	19	46511489	46511489	+	Missense_Mutation	SNP	C	C	T	rs377161841		TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr19:46511489C>T	ENST00000595358.1	+	5	530	c.481C>T	c.(481-483)Cgc>Tgc	p.R161C	CCDC61_ENST00000594087.1_Missense_Mutation_p.R161C|CCDC61_ENST00000263284.2_Missense_Mutation_p.R218C|CCDC61_ENST00000536603.1_Missense_Mutation_p.R161C	NM_001267723.1	NP_001254652.1	Q9Y6R9	CCD61_HUMAN	coiled-coil domain containing 61	161						centrosome (GO:0005813)		p.R218C(1)		endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)		GGAACTGGGCCGCCTGCAAGG	0.647																																																	1	Substitution - Missense(1)	kidney(1)											23.0	26.0	25.0					19																	46511489		1942	4132	6074	SO:0001583	missense	729440				CCDS46120.1, CCDS46120.2	19q13.32	2014-09-04			ENSG00000104983	ENSG00000104983			33629	protein-coding gene	gene with protein product							Standard	NM_001267723		Approved		uc031rlj.1	Q9Y6R9	OTTHUMG00000182488	ENST00000595358.1:c.481C>T	19.37:g.46511489C>T	ENSP00000471454:p.Arg161Cys	Somatic		WXS	Illumina GAIIx	Phase_I	C8CAP4|Q9HDB6	Missense_Mutation	SNP	ENST00000595358.1	37	CCDS46120.2	.	.	.	.	.	.	.	.	.	.	C	17.61	3.433366	0.62844	.	.	ENSG00000104983	ENST00000263284;ENST00000536603	.	.	.	4.15	3.03	0.35002	.	0.538029	0.20495	N	0.091211	T	0.44222	0.1283	L	0.50333	1.59	0.28745	N	0.901749	D	0.63880	0.993	P	0.50896	0.653	T	0.40251	-0.9573	9	0.72032	D	0.01	-13.5136	10.0582	0.42259	0.0:0.6793:0.3207:0.0	.	161	Q9Y6R9	CCD61_HUMAN	C	218;161	.	ENSP00000263284:R218C	R	+	1	0	CCDC61	51203329	0.742000	0.28228	1.000000	0.80357	0.799000	0.45148	2.078000	0.41567	2.330000	0.79161	0.555000	0.69702	CGC		0.647	CCDC61-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461689.1		NM_001080402	
CCRN4L	25819	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	139966177	139966177	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr4:139966177T>C	ENST00000280614.2	+	3	1038	c.845T>C	c.(844-846)aTc>aCc	p.I282T	ELF2_ENST00000515489.1_Intron	NM_012118.2	NP_036250.2	Q9UK39	NOCT_HUMAN	CCR4 carbon catabolite repression 4-like (S. cerevisiae)	282					circadian regulation of gene expression (GO:0032922)|cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of gene expression (GO:0010629)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|regulation of circadian rhythm (GO:0042752)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|response to extracellular stimulus (GO:0009991)|response to lipopolysaccharide (GO:0032496)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A)-specific ribonuclease activity (GO:0004535)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I282T(1)		kidney(2)|large_intestine(3)|lung(3)|ovary(1)	9	all_hematologic(180;0.162)					CAGTTCTGCATCGCTGTTACC	0.532																																					Ovarian(144;566 1842 19130 21379 22209)												1	Substitution - Missense(1)	kidney(1)											98.0	91.0	93.0					4																	139966177		2203	4300	6503	SO:0001583	missense	25819			AF183961	CCDS3743.1	4q31.1	2014-06-18	2001-11-28		ENSG00000151014	ENSG00000151014			14254	protein-coding gene	gene with protein product		608468	"""CCR4-like (carbon catabolite repression 4, S.cerevisiae)"""			10521507	Standard	NM_012118		Approved	CCR4L, Ccr4c	uc003ihl.3	Q9UK39	OTTHUMG00000161271	ENST00000280614.2:c.845T>C	4.37:g.139966177T>C	ENSP00000280614:p.Ile282Thr	Somatic		WXS	Illumina HiSeq	Phase_I	D3DNY5|Q14D51|Q9HD93|Q9HD94|Q9HD95	Missense_Mutation	SNP	ENST00000280614.2	37	CCDS3743.1	.	.	.	.	.	.	.	.	.	.	T	17.44	3.389365	0.61956	.	.	ENSG00000151014	ENST00000280614	T	0.34667	1.35	5.5	5.5	0.81552	Endonuclease/exonuclease/phosphatase (2);	0.315734	0.34828	N	0.003657	T	0.34308	0.0893	L	0.59436	1.845	0.80722	D	1	P	0.41080	0.737	B	0.34590	0.186	T	0.15665	-1.0429	9	.	.	.	-14.3891	15.6018	0.76631	0.0:0.0:0.0:1.0	.	282	Q9UK39	NOCT_HUMAN	T	282	ENSP00000280614:I282T	.	I	+	2	0	CCRN4L	140185627	1.000000	0.71417	0.596000	0.28811	0.952000	0.60782	7.626000	0.83164	2.101000	0.63845	0.454000	0.30748	ATC		0.532	CCRN4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257231.3		NM_012118	
CDC42BPA	8476	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	227192738	227192738	+	Silent	SNP	A	A	G			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr1:227192738A>G	ENST00000366769.3	-	34	6118	c.4827T>C	c.(4825-4827)ccT>ccC	p.P1609P	CDC42BPA_ENST00000366767.3_Silent_p.P1528P|CDC42BPA_ENST00000535525.1_Silent_p.P1589P|CDC42BPA_ENST00000366764.2_Silent_p.P1581P|CDC42BPA_ENST00000366765.3_Silent_p.P1622P|CDC42BPA_ENST00000366766.2_Silent_p.P1644P|CDC42BPA_ENST00000334218.5_Silent_p.P1671P	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)									p.P1644P(1)|p.P1528P(1)|p.P1609P(1)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				GGCCTGGCTCAGGGCGGGATT	0.557																																																	3	Substitution - coding silent(3)	kidney(3)											106.0	101.0	102.0					1																	227192738		2203	4300	6503	SO:0001819	synonymous_variant	8476			U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.4827T>C	1.37:g.227192738A>G		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000366769.3	37	CCDS1558.1	.	.	.	.	.	.	.	.	.	.	A	10.78	1.446124	0.25987	.	.	ENSG00000143776	ENST00000448940;ENST00000442054;ENST00000429440	.	.	.	6.08	-3.27	0.05048	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.9907	0.05982	0.2776:0.4223:0.1275:0.1726	.	.	.	.	R	874;938;507	.	.	X	-	1	0	CDC42BPA	225259361	0.075000	0.21258	0.989000	0.46669	0.991000	0.79684	-0.653000	0.05360	-0.425000	0.07371	-0.438000	0.05819	TGA		0.557	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1		NM_014826	
CEACAM6	4680	broad.mit.edu	37	19	42260806	42260806	+	Silent	SNP	C	C	T			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr19:42260806C>T	ENST00000199764.6	+	2	581	c.363C>T	c.(361-363)acC>acT	p.T121T	AC011513.4_ENST00000601409.1_RNA|CEA_ENST00000598976.1_Intron	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	121	Ig-like V-type.				cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.T121T(1)		breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		GATTCTATACCCTACAAGTCA	0.493																																																	1	Substitution - coding silent(1)	kidney(1)											291.0	286.0	287.0					19																	42260806		2203	4300	6503	SO:0001819	synonymous_variant	4680			M29541	CCDS12585.1	19q13.1-q13.2	2013-01-29			ENSG00000086548	ENSG00000086548		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1818	protein-coding gene	gene with protein product		163980		NCA			Standard	NM_002483		Approved	CD66c	uc002orm.2	P40199	OTTHUMG00000151064	ENST00000199764.6:c.363C>T	19.37:g.42260806C>T		Somatic		WXS	Illumina GAIIx	Phase_I	Q13774|Q14920|Q53XP7	Silent	SNP	ENST00000199764.6	37	CCDS12585.1																																																																																				0.493	CEACAM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321147.1			
CERCAM	51148	hgsc.bcm.edu	37	9	131185203	131185209	+	Frame_Shift_Del	DEL	CGGCTGT	CGGCTGT	-	rs111622564|rs201664355	byFrequency	TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	CGGCTGT	CGGCTGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr9:131185203_131185209delCGGCTGT	ENST00000372838.4	+	2	652_658	c.254_260delCGGCTGT	c.(253-261)gcggctgtgfs	p.AAV85fs	CERCAM_ENST00000372842.1_Frame_Shift_Del_p.AAV7fs	NM_016174.4	NP_057258.3	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	85					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|leukocyte cell-cell adhesion (GO:0007159)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						GAGTGGCTGGCGGCTGTGGGCGATGAC	0.623																																																	0																																										SO:0001589	frameshift_variant	51148			AB040935	CCDS6901.2, CCDS69675.1	9q34.13	2008-02-05	2007-10-17	2007-10-17	ENSG00000167123	ENSG00000167123			23723	protein-coding gene	gene with protein product	"""glycosyltransferase 25 domain containing 3"""		"""cerebral cell adhesion molecule"""	CEECAM1		10608765	Standard	NM_016174		Approved	GLT25D3, CerCAM	uc004buz.4	Q5T4B2	OTTHUMG00000020747	ENST00000372838.4:c.254_260delCGGCTGT	9.37:g.131185203_131185209delCGGCTGT	ENSP00000361929:p.Ala85fs	Somatic		WXS	Illumina HiSeq	Phase_I	A7MD00|C4AMA2|Q0VDF3|Q2VPJ4|Q4KMP2|Q5T4B1|Q8N107|Q96EZ5|Q9P226|Q9UMW5	Frame_Shift_Del	DEL	ENST00000372838.4	37	CCDS6901.2																																																																																				0.623	CERCAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054435.2		NM_016174	
CHST9	83539	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	24496329	24496329	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr18:24496329A>G	ENST00000284224.8	-	6	1503	c.1226T>C	c.(1225-1227)gTc>gCc	p.V409A	AQP4-AS1_ENST00000582605.1_RNA|CHST9_ENST00000581714.1_Missense_Mutation_p.V409A|CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000579964.1_RNA	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	409					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)	p.V409A(1)|p.V324A(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					CTGTCTCACGACTTGAGCATT	0.353																																																	2	Substitution - Missense(2)	kidney(2)											146.0	136.0	139.0					18																	24496329		1844	4088	5932	SO:0001583	missense	83539			AF239821	CCDS42422.1, CCDS58618.1	18q11.2	2011-04-28			ENSG00000154080	ENSG00000154080		"""Sulfotransferases, membrane-bound"""	19898	protein-coding gene	gene with protein product		610191				11139592, 11445554	Standard	NM_031422		Approved	GALNAC4ST-2, GALNAC-4-ST2	uc002kwe.4	Q7L1S5		ENST00000284224.8:c.1226T>C	18.37:g.24496329A>G	ENSP00000284224:p.Val409Ala	Somatic		WXS	Illumina HiSeq	Phase_I	Q6UX69|Q9BXH3|Q9BXH4|Q9BZW9	Missense_Mutation	SNP	ENST00000284224.8	37	CCDS42422.1	.	.	.	.	.	.	.	.	.	.	A	12.68	2.012076	0.35511	.	.	ENSG00000154080	ENST00000284224	T	0.73469	-0.75	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000009	T	0.72415	0.3457	L	0.38838	1.175	0.80722	D	1	P	0.37207	0.587	B	0.42959	0.403	T	0.74441	-0.3664	10	0.62326	D	0.03	-18.2608	16.6406	0.85098	1.0:0.0:0.0:0.0	.	409	Q7L1S5	CHST9_HUMAN	A	409	ENSP00000284224:V409A	ENSP00000284224:V409A	V	-	2	0	CHST9	22750327	1.000000	0.71417	0.303000	0.25071	0.834000	0.47266	7.068000	0.76748	2.326000	0.78906	0.533000	0.62120	GTC		0.353	CHST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446549.1		NM_031422	
CIT	11113	broad.mit.edu	37	12	120128175	120128175	+	Silent	SNP	G	G	A			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr12:120128175G>A	ENST00000261833.7	-	46	5893	c.5841C>T	c.(5839-5841)ccC>ccT	p.P1947P	CIT_ENST00000392521.2_Silent_p.P1989P|CIT_ENST00000537607.1_5'UTR	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1947					cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.P1975P(1)|p.P1947P(1)|p.P1989P(1)		breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GCGGGTGGCTGGGGCCTTCGG	0.701																																																	3	Substitution - coding silent(3)	kidney(3)											15.0	16.0	15.0					12																	120128175		2196	4289	6485	SO:0001819	synonymous_variant	11113			AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.5841C>T	12.37:g.120128175G>A		Somatic		WXS	Illumina GAIIx	Phase_I	Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Silent	SNP	ENST00000261833.7	37	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	G	10.53	1.374834	0.24857	.	.	ENSG00000122966	ENST00000392520	T	0.11169	2.8	5.4	3.57	0.40892	.	0.377447	0.28171	N	0.016334	T	0.12518	0.0304	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.11991	-1.0565	7	0.36615	T	0.2	.	3.7844	0.08694	0.1426:0.1298:0.5935:0.134	.	.	.	.	L	1560	ENSP00000376305:P1560L	ENSP00000376305:P1560L	P	-	2	0	CIT	118612558	0.995000	0.38212	1.000000	0.80357	0.977000	0.68977	0.366000	0.20365	0.757000	0.33036	0.655000	0.94253	CCA		0.701	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4		NM_007174	
CLDN7	1366	broad.mit.edu	37	17	7163812	7163812	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr17:7163812C>T	ENST00000360325.7	-	4	951	c.517G>A	c.(517-519)Gcc>Acc	p.A173T	CLDN7_ENST00000573745.1_5'Flank|CLDN7_ENST00000397317.4_Missense_Mutation_p.A173T|CLDN7_ENST00000538261.3_Silent_p.L144L|RP1-4G17.5_ENST00000577138.1_Intron	NM_001307.5	NP_001298.3	O95471	CLD7_HUMAN	claudin 7	173					calcium-independent cell-cell adhesion (GO:0016338)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.A173T(1)		kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	6						ATGACTAGGGCAGACCCTGCC	0.572																																																	1	Substitution - Missense(1)	kidney(1)											33.0	30.0	31.0					17																	7163812		2203	4300	6503	SO:0001583	missense	1366			AJ011497	CCDS11096.1, CCDS54081.1	17p13.1	2013-09-20			ENSG00000181885	ENSG00000181885		"""Claudins"""	2049	protein-coding gene	gene with protein product		609131		CEPTRL2, CPETRL2		9892664	Standard	NM_001307		Approved	Hs.84359	uc002gfm.4	O95471	OTTHUMG00000178005	ENST00000360325.7:c.517G>A	17.37:g.7163812C>T	ENSP00000353475:p.Ala173Thr	Somatic		WXS	Illumina GAIIx	Phase_I	B2R9X7|D3DTP0|Q6IPN3|Q7Z4Y7|Q9BVN0	Missense_Mutation	SNP	ENST00000360325.7	37	CCDS11096.1	.	.	.	.	.	.	.	.	.	.	C	9.834	1.189309	0.21954	.	.	ENSG00000181885	ENST00000360325;ENST00000397317	D;D	0.89343	-2.5;-2.5	4.92	3.94	0.45596	.	0.228625	0.44483	N	0.000441	D	0.84224	0.5425	L	0.51853	1.615	0.80722	D	1	B	0.24043	0.096	B	0.28385	0.089	T	0.81156	-0.1061	10	0.59425	D	0.04	.	6.209	0.20617	0.1843:0.7216:0.0:0.0941	.	173	O95471	CLD7_HUMAN	T	173	ENSP00000353475:A173T;ENSP00000396638:A173T	ENSP00000353475:A173T	A	-	1	0	CLDN7	7104536	0.029000	0.19370	0.998000	0.56505	0.930000	0.56654	0.284000	0.18864	1.431000	0.47355	0.491000	0.48974	GCC		0.572	CLDN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440204.2		NM_001307	
CLIP2	7461	broad.mit.edu	37	7	73771615	73771615	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr7:73771615delG	ENST00000395060.1	+	5	1023	c.1023delG	c.(1021-1023)acgfs	p.T341fs	CLIP2_ENST00000223398.6_Frame_Shift_Del_p.T341fs|CLIP2_ENST00000361545.5_Frame_Shift_Del_p.T341fs			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	341	Ser-rich.					cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						TGCAGCTCACGGAGACCTCTT	0.597																																																	0													55.0	35.0	42.0					7																	73771615		2203	4300	6503	SO:0001589	frameshift_variant	7461			AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"""cytoplasmic linker 2"", ""Williams-Beuren syndrome chromosome region 3"""	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.1023delG	7.37:g.73771615delG	ENSP00000378500:p.Thr341fs	Somatic		WXS	Illumina GAIIx	Phase_I	O14527|O43611	Frame_Shift_Del	DEL	ENST00000395060.1	37	CCDS5569.1																																																																																				0.597	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1		NM_003388	
COBLL1	22837	broad.mit.edu;hgsc.bcm.edu	37	2	165551694	165551694	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr2:165551694T>C	ENST00000392717.2	-	13	2440	c.2436A>G	c.(2434-2436)atA>atG	p.I812M	COBLL1_ENST00000194871.6_Missense_Mutation_p.I841M|COBLL1_ENST00000342193.4_Missense_Mutation_p.I774M|COBLL1_ENST00000375458.2_Missense_Mutation_p.I736M|COBLL1_ENST00000409184.3_Missense_Mutation_p.I774M			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	812						extracellular vesicular exosome (GO:0070062)		p.I774M(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TGGGAGGCACTATTTTATAAG	0.378																																																	1	Substitution - Missense(1)	kidney(1)											162.0	166.0	165.0					2																	165551694		2203	4300	6503	SO:0001583	missense	22837			AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.2436A>G	2.37:g.165551694T>C	ENSP00000376478:p.Ile812Met	Somatic		WXS	Illumina HiSeq	Phase_I	A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	ENST00000392717.2	37		.	.	.	.	.	.	.	.	.	.	T	17.82	3.482227	0.63962	.	.	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871	.	.	.	6.03	4.85	0.62838	.	0.128501	0.53938	D	0.000045	T	0.68183	0.2973	M	0.66939	2.045	0.42493	D	0.992902	P;D;P	0.53151	0.912;0.958;0.947	P;P;P	0.60345	0.768;0.823;0.873	T	0.68372	-0.5426	9	0.46703	T	0.11	-23.0611	9.4677	0.38822	0.12:0.0:0.1258:0.7542	.	812;841;774	Q53SF7;B7Z2P5;Q53SF7-2	COBL1_HUMAN;.;.	M	736;774;774;812;841	.	ENSP00000194871:I841M	I	-	3	3	COBLL1	165259940	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.488000	0.22371	1.071000	0.40834	0.455000	0.32223	ATA		0.378	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_014900	
CRIPAK	285464	broad.mit.edu;ucsc.edu	37	4	1388536	1388536	+	Silent	SNP	G	G	A			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr4:1388536G>A	ENST00000324803.4	+	1	3197	c.237G>A	c.(235-237)gtG>gtA	p.V79V		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	79					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.V79V(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CTGCTCATGTGCCCATGTGGA	0.637																																																	1	Substitution - coding silent(1)	kidney(1)											290.0	249.0	263.0					4																	1388536		2203	4300	6503	SO:0001819	synonymous_variant	285464			AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.237G>A	4.37:g.1388536G>A		Somatic		WXS	Illumina GAIIx	Phase_I	Q8NB03	Silent	SNP	ENST00000324803.4	37	CCDS3349.1																																																																																				0.637	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2		NM_175918	
CTNNA1	1495	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	138147874	138147874	+	Silent	SNP	G	G	T			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr5:138147874G>T	ENST00000302763.7	+	5	561	c.471G>T	c.(469-471)gtG>gtT	p.V157V	CTNNA1_ENST00000355078.5_Silent_p.V54V|CTNNA1_ENST00000518825.1_Silent_p.V157V	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	157	Involved in homodimerization.				adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)	p.V157V(1)		NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TTTTATAGGTGGAAGATGGTA	0.378																																																	1	Substitution - coding silent(1)	kidney(1)											96.0	98.0	97.0					5																	138147874		2203	4300	6503	SO:0001819	synonymous_variant	1495			D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"""catenin (cadherin-associated protein), alpha 1 (102kD)"""			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.471G>T	5.37:g.138147874G>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q12795|Q8N1C0	Silent	SNP	ENST00000302763.7	37	CCDS34243.1																																																																																				0.378	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1		NM_001903	
CUX1	1523	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	101747717	101747717	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr7:101747717A>G	ENST00000292535.7	+	6	546	c.508A>G	c.(508-510)Aat>Gat	p.N170D	CUX1_ENST00000546411.2_Missense_Mutation_p.N170D|CUX1_ENST00000292538.4_Missense_Mutation_p.N181D|CUX1_ENST00000556210.1_Missense_Mutation_p.N170D|CUX1_ENST00000393824.3_Missense_Mutation_p.N144D|CUX1_ENST00000437600.4_Missense_Mutation_p.N181D|CUX1_ENST00000360264.3_Missense_Mutation_p.N181D|CUX1_ENST00000549414.2_Missense_Mutation_p.N170D|CUX1_ENST00000547394.2_Missense_Mutation_p.N165D|CUX1_ENST00000425244.2_Missense_Mutation_p.N135D|CUX1_ENST00000550008.2_Missense_Mutation_p.N170D|CUX1_ENST00000560541.1_3'UTR	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	170					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.N170D(1)|p.N181D(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GAAGTTACAGAATGACTTTGC	0.418																																																	2	Substitution - Missense(2)	kidney(2)											205.0	178.0	187.0					7																	101747717		2203	4300	6503	SO:0001583	missense	1523			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.508A>G	7.37:g.101747717A>G	ENSP00000292535:p.Asn170Asp	Somatic		WXS	Illumina HiSeq	Phase_I	B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	A	15.97	2.988938	0.53934	.	.	ENSG00000257923	ENST00000292538;ENST00000547394;ENST00000360264;ENST00000425244;ENST00000437600;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T;T;T;T;T	0.77489	1.05;1.05;1.05;1.49;1.05;1.05;-1.1;1.05;1.05;1.05	5.8	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.66742	0.2820	L	0.36672	1.1	0.54753	D	0.999981	B;B;B;B;P;B;B	0.36837	0.435;0.012;0.007;0.021;0.571;0.017;0.021	B;B;B;B;B;B;B	0.33960	0.057;0.006;0.004;0.008;0.173;0.009;0.013	T	0.64037	-0.6501	10	0.36615	T	0.2	-22.4589	11.6109	0.51059	0.9309:0.0:0.0691:0.0	.	144;170;135;165;181;181;181	B4DZZ2;P39880;B3KV79;G3V1Z6;Q13948-2;Q13948;P39880-3	.;CUX1_HUMAN;.;.;.;CASP_HUMAN;.	D	181;165;181;135;181;170;170;170;170;170	ENSP00000292538:N181D;ENSP00000449371:N165D;ENSP00000353401:N181D;ENSP00000409745:N135D;ENSP00000414091:N181D;ENSP00000292535:N170D;ENSP00000446630:N170D;ENSP00000447373:N170D;ENSP00000450125:N170D;ENSP00000451558:N170D	ENSP00000292535:N170D	N	+	1	0	CUX1	101534437	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	5.911000	0.69939	1.041000	0.40125	0.459000	0.35465	AAT		0.418	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1		NM_001913	
DAB2	1601	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	39383077	39383077	+	Silent	SNP	A	A	G			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr5:39383077A>G	ENST00000320816.6	-	10	1451	c.984T>C	c.(982-984)tcT>tcC	p.S328S	DAB2_ENST00000339788.6_Intron|DAB2_ENST00000509337.1_Silent_p.S307S|DAB2_ENST00000512525.1_5'Flank|DAB2_ENST00000545653.1_Silent_p.S307S	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	328	Required for localization to clathrin- coated pits. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)	p.S328S(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			TCAGCGGAGTAGACGAGCTAC	0.483																																																	1	Substitution - coding silent(1)	kidney(1)											100.0	103.0	102.0					5																	39383077		2203	4300	6503	SO:0001819	synonymous_variant	1601			U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"""disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)"", ""disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"""			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.984T>C	5.37:g.39383077A>G		Somatic		WXS	Illumina HiSeq	Phase_I	A6NES5|Q13598|Q9BTY0|Q9UK04	Silent	SNP	ENST00000320816.6	37	CCDS34149.1																																																																																				0.483	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1		NM_001343	
DPY19L2P1	554236	broad.mit.edu	37	7	35144349	35144349	+	RNA	SNP	T	T	A			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr7:35144349T>A	ENST00000436258.1	-	0	1717							Q6NXN4	D19P1_HUMAN	DPY19L2 pseudogene 1							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										CAGTAAACGCTAACAACTGCA	0.338																																																	0																																												554236			BC066987		7p14.2	2014-03-18	2013-09-12		ENSG00000189212	ENSG00000189212			22305	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 1 (C. elegans)"""				Standard	NR_002833		Approved		uc031swy.1	Q6NXN4	OTTHUMG00000155026		7.37:g.35144349T>A		Somatic		WXS	Illumina GAIIx	Phase_I	B4E2E3	Missense_Mutation	SNP	ENST00000436258.1	37																																																																																					0.338	DPY19L2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000338113.1			
EHMT2	10919	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	31848507	31848507	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr6:31848507C>T	ENST00000375537.4	-	27	3401	c.3395G>A	c.(3394-3396)cGa>cAa	p.R1132Q	EHMT2_ENST00000395728.3_Missense_Mutation_p.R1189Q|EHMT2_ENST00000480912.1_5'UTR|SLC44A4_ENST00000465707.1_5'Flank|SLC44A4_ENST00000375562.4_5'Flank|EHMT2_ENST00000375528.4_Missense_Mutation_p.R1155Q|EHMT2_ENST00000375530.4_Missense_Mutation_p.R1098Q|SLC44A4_ENST00000229729.6_5'Flank	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	1132	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)	p.R1132Q(1)		central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GCGTGGAAATCGCAGGTCTTG	0.577																																																	1	Substitution - Missense(1)	kidney(1)											149.0	122.0	131.0					6																	31848507		2203	4300	6503	SO:0001583	missense	10919			AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	14129	protein-coding gene	gene with protein product		604599	"""chromosome 6 open reading frame 30"", ""HLA-B associated transcript 8"""	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.3395G>A	6.37:g.31848507C>T	ENSP00000364687:p.Arg1132Gln	Somatic		WXS	Illumina HiSeq	Phase_I	B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Missense_Mutation	SNP	ENST00000375537.4	37	CCDS4725.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.168344	0.78339	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62	4.21	4.21	0.49690	SET domain (3);	0.000000	0.64402	D	0.000003	D	0.89044	0.6603	M	0.73598	2.24	0.58432	D	0.999995	D;D;D;D	0.89917	0.964;0.99;0.998;1.0	B;P;P;D	0.83275	0.259;0.647;0.885;0.996	D	0.90427	0.4421	10	0.87932	D	0	.	15.8428	0.78864	0.0:1.0:0.0:0.0	.	1155;1098;1132;953	A2ABF8;Q96KQ7-2;Q96KQ7;Q59FM7	.;.;EHMT2_HUMAN;.	Q	1189;1155;1098;1132;953	ENSP00000379078:R1189Q;ENSP00000364678:R1155Q;ENSP00000364680:R1098Q;ENSP00000364687:R1132Q	ENSP00000364678:R1155Q	R	-	2	0	EHMT2	31956486	1.000000	0.71417	0.739000	0.30968	0.944000	0.59088	7.194000	0.77789	2.355000	0.79922	0.561000	0.74099	CGA		0.577	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5		NM_006709	
DST	667	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	56417328	56417328	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr6:56417328T>G	ENST00000361203.3	-	57	15636	c.15629A>C	c.(15628-15630)cAa>cCa	p.Q5210P	DST_ENST00000370769.4_Missense_Mutation_p.Q5212P|DST_ENST00000446842.2_Missense_Mutation_p.Q4886P|DST_ENST00000244364.6_Missense_Mutation_p.Q2798P|DST_ENST00000370788.2_Missense_Mutation_p.Q3124P|DST_ENST00000370754.5_Missense_Mutation_p.Q5390P|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.Q3124P			Q03001	DYST_HUMAN	dystonin	5210					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.Q5212P(1)|p.Q2798P(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGTTTCCTTTTGCTTTTGCAA	0.408																																																	2	Substitution - Missense(2)	kidney(2)											57.0	53.0	54.0					6																	56417328		1863	4092	5955	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.15629A>C	6.37:g.56417328T>G	ENSP00000354508:p.Gln5210Pro	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	T	16.12	3.034214	0.54896	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04;1.04;1.04	6.17	6.17	0.99709	.	0.000000	0.52532	D	0.000075	T	0.61362	0.2341	M	0.81341	2.54	0.29262	N	0.871232	D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;0.998	D;D;D;D;D	0.91635	0.99;0.993;0.999;0.994;0.976	T	0.65134	-0.6242	9	0.54805	T	0.06	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	3124;5212;5390;5210;2798	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	P	2798;5390;5212;3124;4886;3124;5210	ENSP00000244364:Q2798P;ENSP00000359790:Q5390P;ENSP00000359805:Q5212P;ENSP00000400883:Q3124P;ENSP00000393645:Q4886P;ENSP00000359824:Q3124P;ENSP00000354508:Q5210P	ENSP00000244364:Q2798P	Q	-	2	0	DST	56525287	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	CAA		0.408	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3		NM_001723	
ERN1	2081	hgsc.bcm.edu;ucsc.edu	37	17	62122827	62122827	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr17:62122827delT	ENST00000433197.3	-	20	2640	c.2545delA	c.(2545-2547)atafs	p.I849fs		NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1											central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						TCCTTTTCTATTCTGTCGCTC	0.547																																																	0													97.0	100.0	99.0					17																	62122827		2099	4244	6343	SO:0001589	frameshift_variant	2081			AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"""inositol-requiring enzyme 1"""	604033	"""ER to nucleus signalling 1"""			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.2545delA	17.37:g.62122827delT	ENSP00000401445:p.Ile849fs	Somatic		WXS	Illumina HiSeq	Phase_I		Frame_Shift_Del	DEL	ENST00000433197.3	37	CCDS45762.1																																																																																				0.547	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443734.2		NM_001433	
FBN1	2200	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	48718059	48718059	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr15:48718059T>G	ENST00000316623.5	-	59	7662	c.7207A>C	c.(7207-7209)Atc>Ctc	p.I2403L		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2403	EGF-like 41; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.I2403L(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CATTCATCGATATCTGTAATT	0.313																																																	1	Substitution - Missense(1)	kidney(1)											86.0	74.0	78.0					15																	48718059		2198	4296	6494	SO:0001583	missense	2200			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.7207A>C	15.37:g.48718059T>G	ENSP00000325527:p.Ile2403Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.721862	0.89298	.	.	ENSG00000166147	ENST00000316623	D	0.92397	-3.03	6.17	6.17	0.99709	Matrix fibril-associated (1);EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.95239	0.8456	M	0.63843	1.955	0.80722	D	1	D	0.57899	0.981	D	0.70716	0.97	D	0.95303	0.8405	10	0.62326	D	0.03	.	16.4837	0.84171	0.0:0.0:0.0:1.0	.	2403	P35555	FBN1_HUMAN	L	2403	ENSP00000325527:I2403L	ENSP00000325527:I2403L	I	-	1	0	FBN1	46505351	1.000000	0.71417	1.000000	0.80357	0.650000	0.38633	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	ATC		0.313	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			
FKBPL	63943	broad.mit.edu;ucsc.edu	37	6	32096783	32096783	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr6:32096783C>G	ENST00000375156.3	-	2	1045	c.775G>C	c.(775-777)Gct>Cct	p.A259P	ATF6B_ENST00000375203.3_5'Flank|ATF6B_ENST00000375201.4_5'Flank|ATF6B_ENST00000468502.1_5'Flank	NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	259					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)|response to radiation (GO:0009314)	endoplasmic reticulum membrane (GO:0005789)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.A259P(1)									TGACAGGCAGCCAGATTGGCA	0.597																																																	1	Substitution - Missense(1)	kidney(1)											48.0	52.0	50.0					6																	32096783		2203	4300	6503	SO:0001583	missense	63943			AF139374	CCDS4738.1	6p21.3	2013-12-13	2001-11-28		ENSG00000204315	ENSG00000204315		"""Tetratricopeptide (TTC) repeat domain containing"""	13949	protein-coding gene	gene with protein product	"""WAF-1/CIP1 stabilizing protein 39"""		"""FK506-binding protein like"""			9056895	Standard	NM_022110		Approved	DIR1, NG7, WISp39	uc003nzr.3	Q9UIM3	OTTHUMG00000031129	ENST00000375156.3:c.775G>C	6.37:g.32096783C>G	ENSP00000364298:p.Ala259Pro	Somatic		WXS	Illumina GAIIx	Phase_I	A8K5V3|B0UYX8|Q9H5G3	Missense_Mutation	SNP	ENST00000375156.3	37	CCDS4738.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.876612	0.91664	.	.	ENSG00000204315	ENST00000375156	T	0.74002	-0.8	5.51	5.51	0.81932	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.44285	D	0.000465	D	0.88400	0.6426	M	0.93062	3.375	0.49687	D	0.999818	D	0.89917	1.0	D	0.91635	0.999	D	0.90142	0.4214	10	0.87932	D	0	-8.0589	16.9624	0.86275	0.0:1.0:0.0:0.0	.	259	Q9UIM3	FKBPL_HUMAN	P	259	ENSP00000364298:A259P	ENSP00000364298:A259P	A	-	1	0	FKBPL	32204761	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	3.393000	0.52544	2.873000	0.98535	0.561000	0.74099	GCT		0.597	FKBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076221.2			
FOXA2	3170	broad.mit.edu	37	20	22562794	22562794	+	Silent	SNP	C	C	T			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr20:22562794C>T	ENST00000377115.4	-	3	1249	c.1068G>A	c.(1066-1068)ccG>ccA	p.P356P	FOXA2_ENST00000419308.2_Silent_p.P362P	NM_153675.2	NP_710141.1	Q9Y261	FOXA2_HUMAN	forkhead box A2	356					adult locomotory behavior (GO:0008344)|cell development (GO:0048468)|cell differentiation in hindbrain (GO:0021533)|cell fate specification (GO:0001708)|chromatin modification (GO:0016568)|connective tissue development (GO:0061448)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral neural tube patterning (GO:0021904)|ectoderm formation (GO:0001705)|endocrine pancreas development (GO:0031018)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|in utero embryonic development (GO:0001701)|lung epithelial cell differentiation (GO:0060487)|negative regulation of detection of glucose (GO:2000971)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter by glucose (GO:0000433)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|regulation of blood coagulation (GO:0030193)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in detection of glucose (GO:2000976)|response to interleukin-6 (GO:0070741)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.P356P(1)		breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					GCGGCAGGCCCGGGTGGTGGG	0.726																																																	1	Substitution - coding silent(1)	kidney(1)											34.0	27.0	30.0					20																	22562794		2151	4221	6372	SO:0001819	synonymous_variant	3170			AF147787	CCDS13147.1, CCDS46585.1	20p11	2008-04-10		2002-09-20	ENSG00000125798	ENSG00000125798		"""Forkhead boxes"""	5022	protein-coding gene	gene with protein product		600288	"""hepatocyte nuclear factor 3, beta"""	HNF3B		9119385, 11875061	Standard	NM_153675		Approved		uc002wsm.3	Q9Y261	OTTHUMG00000032041	ENST00000377115.4:c.1068G>A	20.37:g.22562794C>T		Somatic		WXS	Illumina GAIIx	Phase_I	Q8WUW4|Q96DF7	Silent	SNP	ENST00000377115.4	37	CCDS13147.1																																																																																				0.726	FOXA2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078289.1			
GFRA2	2675	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	21563505	21563505	+	Silent	SNP	C	C	T			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr8:21563505C>T	ENST00000524240.1	-	5	1493	c.843G>A	c.(841-843)acG>acA	p.T281T	GFRA2_ENST00000517328.1_Silent_p.T281T|GFRA2_ENST00000400782.4_Silent_p.T176T|GFRA2_ENST00000518077.1_Silent_p.T148T	NM_001495.4	NP_001486.4	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2	281					negative regulation of protein autophosphorylation (GO:0031953)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	anchored component of membrane (GO:0031225)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)	p.T281T(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		AGCTGGTGACCGTCTGGTAGG	0.577																																																	1	Substitution - coding silent(1)	kidney(1)																																								SO:0001819	synonymous_variant	2675			AF002700	CCDS47816.1, CCDS55207.1	8p21.3	2008-05-02			ENSG00000168546	ENSG00000168546			4244	protein-coding gene	gene with protein product		601956				9177201	Standard	NM_001165038		Approved	RETL2, GDNFRB, NTNRA, TRNR2	uc003wzu.1	O00451	OTTHUMG00000163897	ENST00000524240.1:c.843G>A	8.37:g.21563505C>T		Somatic		WXS	Illumina HiSeq	Phase_I	E9PD47|O15316|O15328|Q58J92|Q6GTR9|Q7Z5C2	Silent	SNP	ENST00000524240.1	37	CCDS47816.1																																																																																				0.577	GFRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376254.3		NM_001495	
GHDC	84514	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	40342212	40342212	+	Silent	SNP	A	A	G			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr17:40342212A>G	ENST00000301671.8	-	8	1806	c.1365T>C	c.(1363-1365)aaT>aaC	p.N455N	GHDC_ENST00000590520.1_5'Flank|GHDC_ENST00000593209.1_Silent_p.N455N|GHDC_ENST00000428494.2_Silent_p.N416N|GHDC_ENST00000587427.1_Silent_p.N455N|GHDC_ENST00000414034.3_3'UTR			Q8N2G8	GHDC_HUMAN	GH3 domain containing	455						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)		p.N455N(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		CCTTGTCTCGATTTTCCTCTG	0.562																																																	1	Substitution - coding silent(1)	kidney(1)											147.0	137.0	140.0					17																	40342212		2203	4300	6503	SO:0001819	synonymous_variant	84514			AF316997, BC011056	CCDS11422.1, CCDS45682.1	17q21.2	2006-08-02				ENSG00000167925			24438	protein-coding gene	gene with protein product		608587				11161808, 11735219	Standard	NR_024573		Approved	LGP1	uc002hzf.4	Q8N2G8		ENST00000301671.8:c.1365T>C	17.37:g.40342212A>G		Somatic		WXS	Illumina HiSeq	Phase_I	B4DQS4|E9PDB5|Q9BXM6	Silent	SNP	ENST00000301671.8	37	CCDS11422.1																																																																																				0.562	GHDC-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449794.1		NM_032484	
GPR141	353345	hgsc.bcm.edu;ucsc.edu	37	7	37780555	37780555	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr7:37780555delT	ENST00000447769.1	+	4	849	c.560delT	c.(559-561)attfs	p.I187fs	GPR141_ENST00000334425.1_Frame_Shift_Del_p.I187fs|EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	187						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ATGATAGTCATTTTTGTCATA	0.403																																																	0													181.0	163.0	169.0					7																	37780555		2203	4300	6503	SO:0001589	frameshift_variant	353345			AY288420	CCDS5451.1	7p14.1	2012-08-21			ENSG00000187037	ENSG00000187037		"""GPCR / Class A : Orphans"""	19997	protein-coding gene	gene with protein product		609045				12679517, 14623098	Standard	NM_181791		Approved	PGR13	uc003tfm.1	Q7Z602	OTTHUMG00000102105	ENST00000447769.1:c.560delT	7.37:g.37780555delT	ENSP00000390410:p.Ile187fs	Somatic		WXS	Illumina HiSeq	Phase_I	A4D1X7|Q0VAR5|Q86SP3	Frame_Shift_Del	DEL	ENST00000447769.1	37	CCDS5451.1																																																																																				0.403	GPR141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219943.2		NM_181791	
GREB1L	80000	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	19032159	19032159	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr18:19032159G>A	ENST00000580732.2	+	14	2346	c.1965G>A	c.(1963-1965)atG>atA	p.M655I	GREB1L_ENST00000400483.4_Missense_Mutation_p.M655I|GREB1L_ENST00000578368.1_3'UTR|GREB1L_ENST00000269218.6_Missense_Mutation_p.M546I|GREB1L_ENST00000431264.1_Missense_Mutation_p.M655I|SNORD23_ENST00000408212.1_RNA|RP11-296E23.1_ENST00000584611.1_RNA|GREB1L_ENST00000424526.1_Missense_Mutation_p.M655I			Q9C091	GRB1L_HUMAN	growth regulation by estrogen in breast cancer-like	655						integral component of membrane (GO:0016021)		p.M656I(1)|p.M655I(1)		breast(5)|endometrium(4)|kidney(6)|lung(1)|skin(1)	17						CTGCTGCTATGATTCCCACAC	0.453																																																	2	Substitution - Missense(2)	kidney(2)											114.0	99.0	104.0					18																	19032159		692	1591	2283	SO:0001583	missense	80000			AK023749	CCDS45836.1	18q11.2	2009-09-08	2009-09-08	2009-09-08					31042	protein-coding gene	gene with protein product			"""KIAA1772"""	KIAA1772		11214970	Standard	NM_001142966		Approved	FLJ13687, C18orf6	uc010xam.2	Q9C091		ENST00000580732.2:c.1965G>A	18.37:g.19032159G>A	ENSP00000464162:p.Met655Ile	Somatic		WXS	Illumina HiSeq	Phase_I	A4QN17|Q9H8F1	Missense_Mutation	SNP	ENST00000580732.2	37	CCDS45836.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.895433	0.72639	.	.	ENSG00000141449	ENST00000424526;ENST00000269218;ENST00000400483;ENST00000431264	T;T;T;T	0.14266	3.27;3.27;2.52;2.52	5.83	5.83	0.93111	.	.	.	.	.	T	0.33990	0.0882	L	0.56769	1.78	0.58432	D	0.999994	D;D;D	0.58268	0.982;0.982;0.962	D;D;D	0.68943	0.961;0.961;0.946	T	0.00773	-1.1572	9	0.19590	T	0.45	-3.0088	20.0934	0.97830	0.0:0.0:1.0:0.0	.	546;655;655	Q9C091-3;Q9C091;Q9C091-2	.;GRB1L_HUMAN;.	I	655;546;655;655	ENSP00000412060:M655I;ENSP00000269218:M546I;ENSP00000383331:M655I;ENSP00000393125:M655I	ENSP00000269218:M546I	M	+	3	0	GREB1L	17286157	1.000000	0.71417	0.995000	0.50966	0.850000	0.48378	8.757000	0.91657	2.744000	0.94065	0.655000	0.94253	ATG		0.453	GREB1L-003	KNOWN	not_organism_supported|upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443782.2		NM_024935	
HCN3	57657	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	155254427	155254427	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr1:155254427C>T	ENST00000368358.3	+	4	976	c.968C>T	c.(967-969)cCc>cTc	p.P323L	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	323					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.P323L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GTAGGCATGCCCGACGTCTGG	0.597																																																	1	Substitution - Missense(1)	kidney(1)											104.0	77.0	86.0					1																	155254427		2203	4300	6503	SO:0001583	missense	57657			AB040968	CCDS1108.1	1q21.2	2011-07-05			ENSG00000143630	ENSG00000143630		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	19183	protein-coding gene	gene with protein product		609973				16382102	Standard	NM_020897		Approved	KIAA1535	uc001fjz.2	Q9P1Z3	OTTHUMG00000035872	ENST00000368358.3:c.968C>T	1.37:g.155254427C>T	ENSP00000357342:p.Pro323Leu	Somatic		WXS	Illumina HiSeq	Phase_I	D3DV90|Q4VX12|Q8N6W6|Q9BWQ2	Missense_Mutation	SNP	ENST00000368358.3	37	CCDS1108.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.902027	0.72754	.	.	ENSG00000143630	ENST00000368358	D	0.98150	-4.75	5.18	5.18	0.71444	Ion transport (1);	0.000000	0.50627	D	0.000102	D	0.89986	0.6874	N	0.04018	-0.295	0.53005	D	0.999965	B	0.02656	0.0	B	0.06405	0.002	D	0.85949	0.1463	10	0.49607	T	0.09	.	16.5568	0.84487	0.0:1.0:0.0:0.0	.	323	Q9P1Z3	HCN3_HUMAN	L	323	ENSP00000357342:P323L	ENSP00000357342:P323L	P	+	2	0	HCN3	153521051	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.773000	0.85462	2.573000	0.86826	0.552000	0.68991	CCC		0.597	HCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087388.1		NM_020897	
HEATR4	399671	broad.mit.edu	37	14	73989820	73989820	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr14:73989820delG	ENST00000553558.1	-	3	358	c.37delC	c.(37-39)catfs	p.H13fs	HEATR4_ENST00000560393.1_5'UTR|RP3-414A15.11_ENST00000553394.1_RNA|HEATR4_ENST00000334988.2_Frame_Shift_Del_p.H13fs|RP3-414A15.2_ENST00000555972.2_RNA	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4	13										breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		TAGAAGCAATGGGGGAGAAAG	0.527																																																	0																																										SO:0001589	frameshift_variant	399671			BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.37delC	14.37:g.73989820delG	ENSP00000450444:p.His13fs	Somatic		WXS	Illumina GAIIx	Phase_I	B7Z7V9|E9KL41	Frame_Shift_Del	DEL	ENST00000553558.1	37	CCDS9815.2																																																																																				0.527	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414422.2		NM_203309	
HYOU1	10525	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	118922276	118922276	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr11:118922276C>T	ENST00000404233.3	-	13	1524	c.1400G>A	c.(1399-1401)cGg>cAg	p.R467Q	HYOU1_ENST00000529972.1_Missense_Mutation_p.R467Q|HYOU1_ENST00000525859.1_Missense_Mutation_p.R467Q|HYOU1_ENST00000543287.1_Missense_Mutation_p.R380Q	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	467					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)	p.R467Q(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		GAAGAGTACCCGTTTATTGTG	0.537																																																	1	Substitution - Missense(1)	kidney(1)											227.0	171.0	190.0					11																	118922276		2200	4295	6495	SO:0001583	missense	10525			U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"""Heat shock proteins / HSP70"""	16931	protein-coding gene	gene with protein product	"""glucose-regulated protein 170"""	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.1400G>A	11.37:g.118922276C>T	ENSP00000384144:p.Arg467Gln	Somatic		WXS	Illumina HiSeq	Phase_I	A8C1Z0|B7Z909|Q2I204|Q53H25	Missense_Mutation	SNP	ENST00000404233.3	37	CCDS8408.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.696975	0.88830	.	.	ENSG00000149428	ENST00000404233;ENST00000353883;ENST00000529972;ENST00000536103;ENST00000535579;ENST00000525859;ENST00000544701;ENST00000543287;ENST00000530473	T;T;T;T;T	0.00976	5.48;5.48;5.48;5.48;5.48	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.03520	0.0101	L	0.37630	1.12	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	T	0.65138	-0.6241	10	0.41790	T	0.15	-12.612	19.0611	0.93093	0.0:1.0:0.0:0.0	.	458;511;467;467	B3KXH0;B7Z2N4;Q9Y4L1;A8C1Z0	.;.;HYOU1_HUMAN;.	Q	467;458;467;467;316;467;510;380;467	ENSP00000384144:R467Q;ENSP00000437313:R467Q;ENSP00000433397:R467Q;ENSP00000442727:R380Q;ENSP00000431874:R467Q	ENSP00000278752:R458Q	R	-	2	0	HYOU1	118427486	1.000000	0.71417	0.948000	0.38648	0.340000	0.28889	7.320000	0.79064	2.735000	0.93741	0.655000	0.94253	CGG		0.537	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389353.1		NM_006389	
KCNH6	81033	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	61613155	61613155	+	Silent	SNP	G	G	A			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr17:61613155G>A	ENST00000583023.1	+	6	1238	c.1227G>A	c.(1225-1227)gcG>gcA	p.A409A	KCNH6_ENST00000314672.5_Silent_p.A409A|KCNH6_ENST00000581784.1_Silent_p.A409A|KCNH6_ENST00000580652.1_Silent_p.A409A|KCNH6_ENST00000456941.2_Silent_p.A409A	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	409					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.A409A(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	GCACCTTCGCGCTCATAGCGC	0.632																																																	1	Substitution - coding silent(1)	kidney(1)											94.0	83.0	87.0					17																	61613155		2203	4300	6503	SO:0001819	synonymous_variant	81033			AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.1227G>A	17.37:g.61613155G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q9BRD7	Silent	SNP	ENST00000583023.1	37	CCDS11638.1																																																																																				0.632	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1		NM_030779	
KDM2B	84678	hgsc.bcm.edu;ucsc.edu	37	12	121972425	121972429	+	Frame_Shift_Del	DEL	ACCAA	ACCAA	-			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	ACCAA	ACCAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr12:121972425_121972429delACCAA	ENST00000377071.4	-	7	822_826	c.750_754delTTGGT	c.(748-756)gtttggtacfs	p.WY251fs	KDM2B_ENST00000538046.2_Frame_Shift_Del_p.WY251fs|KDM2B_ENST00000536437.1_Frame_Shift_Del_p.WY134fs|KDM2B_ENST00000543852.1_Frame_Shift_Del_p.WY20fs|KDM2B_ENST00000377069.4_Frame_Shift_Del_p.WY220fs	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	251	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						AAAACATGGTACCAAACGGAAGTGC	0.498																																																	0																																										SO:0001589	frameshift_variant	84678			AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.750_754delTTGGT	12.37:g.121972425_121972429delACCAA	ENSP00000366271:p.Trp251fs	Somatic		WXS	Illumina HiSeq	Phase_I	A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Frame_Shift_Del	DEL	ENST00000377071.4	37	CCDS41850.1																																																																																				0.498	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2		NM_032590	
KDM4C	23081	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	7013979	7013979	+	Silent	SNP	G	G	A			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr9:7013979G>A	ENST00000381309.3	+	14	2725	c.2160G>A	c.(2158-2160)aaG>aaA	p.K720K	KDM4C_ENST00000428870.2_Silent_p.K407K|KDM4C_ENST00000536108.1_Silent_p.K539K|KDM4C_ENST00000442236.2_Silent_p.K465K|KDM4C_ENST00000535193.1_Silent_p.K742K|KDM4C_ENST00000381306.3_Silent_p.K720K|KDM4C_ENST00000543771.1_Silent_p.K720K	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	720					histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)	p.K720K(2)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						CCTGTGCAAAGTGCTGCGTAC	0.368																																																	2	Substitution - coding silent(2)	kidney(2)											127.0	124.0	125.0					9																	7013979		2203	4300	6503	SO:0001819	synonymous_variant	23081			AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	17071	protein-coding gene	gene with protein product	"""tudor domain containing 14C"""	605469	"""jumonji domain containing 2C"""	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.2160G>A	9.37:g.7013979G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Silent	SNP	ENST00000381309.3	37	CCDS6471.1																																																																																				0.368	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051692.1		NM_015061	
KIAA1109	84162	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	123274224	123274224	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr4:123274224A>T	ENST00000264501.4	+	81	14388	c.14015A>T	c.(14014-14016)aAt>aTt	p.N4672I	KIAA1109_ENST00000388738.3_Missense_Mutation_p.N4672I			Q2LD37	K1109_HUMAN	KIAA1109	4672					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.N4672I(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CATGGTCCAAATTTTCGTTCA	0.368																																																	1	Substitution - Missense(1)	kidney(1)											119.0	107.0	111.0					4																	123274224		1845	4087	5932	SO:0001583	missense	84162			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.14015A>T	4.37:g.123274224A>T	ENSP00000264501:p.Asn4672Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.1|25.1	4.601865|4.601865	0.87055|0.87055	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000306802|ENST00000264501;ENST00000388738;ENST00000438707;ENST00000431755	.|T;T;T	.|0.53423	.|0.62;0.62;0.62	5.74|5.74	5.74|5.74	0.90152|0.90152	.|Fragile site-associated protein, C-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.68632|0.68632	0.3022|0.3022	M|M	0.72118|0.72118	2.19|2.19	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|0.999;1.0	.|D;D	.|0.91635	.|0.996;0.999	T|T	0.72243|0.72243	-0.4350|-0.4350	5|10	.|0.87932	.|D	.|0	.|.	16.0429|16.0429	0.80698|0.80698	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|4671;4672	.|Q2LD37-4;Q2LD37	.|.;K1109_HUMAN	F|I	1048|4672;4672;1341;273	.|ENSP00000264501:N4672I;ENSP00000373390:N4672I;ENSP00000410874:N1341I	.|ENSP00000264501:N4672I	I|N	+|+	1|2	0|0	KIAA1109|KIAA1109	123493674|123493674	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.339000|9.339000	0.96797|0.96797	2.192000|2.192000	0.70111|0.70111	0.528000|0.528000	0.53228|0.53228	ATT|AAT		0.368	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1		NM_020797	
KITLG	4254	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	88910211	88910211	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr12:88910211G>C	ENST00000228280.5	-	5	602	c.420C>G	c.(418-420)ttC>ttG	p.F140L	KITLG_ENST00000357116.4_Intron|KITLG_ENST00000347404.5_Missense_Mutation_p.F140L|KITLG_ENST00000378535.4_5'UTR	NM_000899.4	NP_000890.1	P21583	SCF_HUMAN	KIT ligand	140					cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|negative regulation of mast cell apoptotic process (GO:0033026)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of myeloid leukocyte differentiation (GO:0002763)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Ras protein signal transduction (GO:0046579)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	stem cell factor receptor binding (GO:0005173)	p.F140L(1)		kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						AAATTCTAAAGAATTCTTCAG	0.348									Testicular Cancer, Familial Clustering of																																								1	Substitution - Missense(1)	kidney(1)											51.0	58.0	55.0					12																	88910211		2200	4294	6494	SO:0001583	missense	4254	Familial Cancer Database		M59964	CCDS31867.1, CCDS31868.1	12q22	2010-11-23			ENSG00000049130	ENSG00000049130			6343	protein-coding gene	gene with protein product	"""mast cell growth factor"", ""stem cell factor"", ""steel factor"", ""familial progressive hyperpigmentation 2"""	184745		MGF		2208279, 1707188, 19375057	Standard	NM_003994		Approved	SCF, SF, Kitl, KL-1, FPH2	uc001tav.3	P21583	OTTHUMG00000169888	ENST00000228280.5:c.420C>G	12.37:g.88910211G>C	ENSP00000228280:p.Phe140Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A0AV09|A8K2Q4|B7ZLM4|Q16487|Q68DZ2|Q7M4N8|Q9UQK7	Missense_Mutation	SNP	ENST00000228280.5	37	CCDS31868.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.914984	0.52546	.	.	ENSG00000049130	ENST00000378535;ENST00000228280;ENST00000347404	T;T	0.68765	-0.35;-0.35	4.96	2.75	0.32379	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.159386	0.56097	D	0.000022	T	0.76586	0.4008	M	0.65498	2.005	0.44000	D	0.996706	D;D	0.89917	1.0;0.997	D;D	0.76575	0.987;0.988	T	0.77109	-0.2709	10	0.72032	D	0.01	-10.5253	9.1261	0.36816	0.2618:0.0:0.7382:0.0	.	140;140	P21583-2;P21583	.;SCF_HUMAN	L	105;140;140	ENSP00000228280:F140L;ENSP00000054216:F140L	ENSP00000228280:F140L	F	-	3	2	KITLG	87434342	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.350000	0.44063	1.078000	0.41014	0.591000	0.81541	TTC		0.348	KITLG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406424.2		NM_003994	
KNTC1	9735	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	123034395	123034395	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr12:123034395A>G	ENST00000333479.7	+	13	1247	c.1070A>G	c.(1069-1071)cAa>cGa	p.Q357R	KNTC1_ENST00000450485.2_Missense_Mutation_p.Q320R	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	357					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)		p.Q357R(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TCTCTGGTCCAAACAGGAATT	0.299																																																	1	Substitution - Missense(1)	kidney(1)											46.0	42.0	43.0					12																	123034395		1804	4067	5871	SO:0001583	missense	9735				CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.1070A>G	12.37:g.123034395A>G	ENSP00000328236:p.Gln357Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A7E2C4|B3KSG2	Missense_Mutation	SNP	ENST00000333479.7	37	CCDS45002.1	.	.	.	.	.	.	.	.	.	.	A	6.950	0.545075	0.13312	.	.	ENSG00000184445	ENST00000450485;ENST00000333479	T;T	0.41758	0.99;0.99	5.5	4.15	0.48705	.	0.232362	0.37761	N	0.001944	T	0.27384	0.0672	L	0.34521	1.04	0.80722	D	1	B;B	0.10296	0.003;0.003	B;B	0.08055	0.002;0.003	T	0.08848	-1.0702	10	0.21014	T	0.42	-10.023	7.1012	0.25338	0.7823:0.0:0.0828:0.1349	.	320;357	E7ES84;P50748	.;KNTC1_HUMAN	R	320;357	ENSP00000397992:Q320R;ENSP00000328236:Q357R	ENSP00000328236:Q357R	Q	+	2	0	KNTC1	121600348	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.351000	0.44071	2.091000	0.63221	0.528000	0.53228	CAA		0.299	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			
KRT12	3859	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	39021170	39021171	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr17:39021170_39021171insT	ENST00000251643.4	-	3	717_718	c.694_695insA	c.(694-696)atcfs	p.I232fs	RP5-1110E20.1_ENST00000579136.1_RNA	NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	232	Coil 1B.|Rod.				visual perception (GO:0007601)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)			Griseofulvin(DB00400)	CAGGCCATTGATGTCGGCCTCT	0.564																																																	0																																										SO:0001589	frameshift_variant	3859				CCDS11378.1	17q21.2	2013-06-20	2008-08-01		ENSG00000187242	ENSG00000187242		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6414	protein-coding gene	gene with protein product	"""Meesmann corneal dystrophy"""	601687				9171831, 16831889	Standard	NM_000223		Approved	K12	uc002hvk.2	Q99456	OTTHUMG00000133369	ENST00000251643.4:c.695dupA	17.37:g.39021171_39021171dupT	ENSP00000251643:p.Ile232fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2R9E0	Frame_Shift_Ins	INS	ENST00000251643.4	37	CCDS11378.1																																																																																				0.564	KRT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257214.2		NM_000223	
LIN54	132660	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	83857207	83857207	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr4:83857207G>T	ENST00000340417.3	-	11	2149	c.1772C>A	c.(1771-1773)tCt>tAt	p.S591Y	LIN54_ENST00000510557.1_Missense_Mutation_p.S370Y|LIN54_ENST00000395283.2_Missense_Mutation_p.S502Y|LIN54_ENST00000506560.1_Missense_Mutation_p.S502Y|LIN54_ENST00000442461.2_Missense_Mutation_p.S370Y|LIN54_ENST00000395282.2_3'UTR|LIN54_ENST00000446851.2_Missense_Mutation_p.S370Y|LIN54_ENST00000505397.1_Missense_Mutation_p.S591Y	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 DREAM MuvB core complex component	591	CRC. {ECO:0000255|PROSITE- ProRule:PRU00971}.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)	p.S591Y(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				ACGTCGATCAGATTCTCCCTC	0.403																																																	1	Substitution - Missense(1)	kidney(1)											201.0	177.0	185.0					4																	83857207		2203	4300	6503	SO:0001583	missense	132660			BX537919	CCDS3599.1, CCDS47089.1, CCDS75157.1	4q21.22	2014-07-17	2014-07-17		ENSG00000189308	ENSG00000189308			25397	protein-coding gene	gene with protein product	"""CXC domain containing 1"""	613367	"""lin-54 homolog (C. elegans)"""			21498570	Standard	XM_005262749		Approved	MIP120, DKFZp686L1814, JC8.6, CXCDC1	uc003hnx.3	Q6MZP7	OTTHUMG00000130287	ENST00000340417.3:c.1772C>A	4.37:g.83857207G>T	ENSP00000341947:p.Ser591Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	Q32M68|Q32M69|Q6N071|Q76B60	Missense_Mutation	SNP	ENST00000340417.3	37	CCDS3599.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.239981	0.58995	.	.	ENSG00000189308	ENST00000340417;ENST00000395283;ENST00000442461;ENST00000446851;ENST00000510557;ENST00000506560;ENST00000505397	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.74801	0.3764	L	0.58510	1.815	0.80722	D	1	D;D;D	0.64830	0.994;0.994;0.994	P;P;P	0.60789	0.879;0.795;0.854	T	0.75563	-0.3274	9	0.56958	D	0.05	-20.0349	19.0569	0.93069	0.0:0.0:1.0:0.0	.	502;463;591	Q6MZP7-2;Q7Z3G2;Q6MZP7	.;.;LIN54_HUMAN	Y	591;502;370;370;370;502;591	.	ENSP00000341947:S591Y	S	-	2	0	LIN54	84076231	1.000000	0.71417	0.979000	0.43373	0.006000	0.05464	9.581000	0.98210	2.732000	0.93576	0.650000	0.86243	TCT		0.403	LIN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252626.2		NM_194282	
LMBRD2	92255	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	36136613	36136613	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr5:36136613A>G	ENST00000296603.4	-	6	1007	c.545T>C	c.(544-546)cTt>cCt	p.L182P		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	182						integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.L182P(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AATTGTCTGAAGCTGGTTCCT	0.383																																																	1	Substitution - Missense(1)	kidney(1)											108.0	104.0	105.0					5																	36136613		2203	4300	6503	SO:0001583	missense	92255				CCDS34145.1	5p13.2	2008-02-05			ENSG00000164187	ENSG00000164187			25287	protein-coding gene	gene with protein product							Standard	NM_001007527		Approved	DKFZp434H2226	uc003jkb.1	Q68DH5	OTTHUMG00000162150	ENST00000296603.4:c.545T>C	5.37:g.36136613A>G	ENSP00000296603:p.Leu182Pro	Somatic		WXS	Illumina HiSeq	Phase_I	B3KRB6|Q9NTC7	Missense_Mutation	SNP	ENST00000296603.4	37	CCDS34145.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.624680	0.87560	.	.	ENSG00000164187	ENST00000296603;ENST00000546130	T	0.34859	1.34	6.08	6.08	0.98989	LMBR1-like membrane protein (1);	0.000000	0.85682	D	0.000000	T	0.65354	0.2683	M	0.85197	2.74	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.70978	-0.4725	10	0.87932	D	0	-21.3853	16.6438	0.85155	1.0:0.0:0.0:0.0	.	182	Q68DH5	LMBD2_HUMAN	P	182;76	ENSP00000296603:L182P	ENSP00000296603:L182P	L	-	2	0	LMBRD2	36172370	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.793000	0.91862	2.333000	0.79357	0.533000	0.62120	CTT		0.383	LMBRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367552.1		NM_001007527	
LRRC7	57554	broad.mit.edu	37	1	70505476	70505476	+	Splice_Site	SNP	G	G	A			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr1:70505476G>A	ENST00000035383.5	+	19	3885	c.3855G>A	c.(3853-3855)agG>agA	p.R1285R	LRRC7_ENST00000415775.2_Splice_Site_p.R569R|LRRC7_ENST00000310961.5_Splice_Site_p.R1290R	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1285						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.R1285R(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GGTTAGACAGGGTATGTCTGG	0.448																																																	1	Substitution - coding silent(1)	kidney(1)											90.0	90.0	90.0					1																	70505476		2203	4300	6503	SO:0001630	splice_region_variant	57554				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.3855+1G>A	1.37:g.70505476G>A		Somatic		WXS	Illumina GAIIx	Phase_I	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Silent	SNP	ENST00000035383.5	37	CCDS645.1																																																																																				0.448	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1		NM_020794	Silent
MARCKS	4082	broad.mit.edu	37	6	114181210	114181210	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr6:114181210delA	ENST00000368635.4	+	2	835	c.454delA	c.(454-456)aaafs	p.K156fs		NM_002356.5	NP_002347.5	P29966	MARCS_HUMAN	myristoylated alanine-rich protein kinase C substrate	156	Calmodulin-binding (PSD).				energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|germinal vesicle (GO:0042585)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|calmodulin binding (GO:0005516)	p.K155fs*12(1)		breast(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;7.65e-05)|all_epithelial(87;0.000296)|all_hematologic(75;0.0172)|Colorectal(196;0.0317)|all_lung(197;0.198)		Epithelial(106;1.59e-07)|all cancers(137;9.85e-07)|OV - Ovarian serous cystadenocarcinoma(136;0.000322)		CGAGACCCCGAAAAAAAAAAA	0.612																																																	1	Deletion - Frameshift(1)	large_intestine(1)											9.0	11.0	10.0					6																	114181210		1892	3986	5878	SO:0001589	frameshift_variant	4082			M68956	CCDS5101.1	6q21	2014-04-10	2001-12-17	2001-12-20	ENSG00000155130	ENSG00000277443			6759	protein-coding gene	gene with protein product		177061	"""myristoylated alanine-rich protein kinase C substrate (MARCKS, 80K-L)"""	MACS		1560845, 8420923	Standard	NM_002356		Approved	PKCSL, 80K-L	uc003pvy.4	P29966	OTTHUMG00000188327	ENST00000368635.4:c.454delA	6.37:g.114181210delA	ENSP00000357624:p.Lys156fs	Somatic		WXS	Illumina GAIIx	Phase_I	E1P560|Q2LA83|Q5TDB7	Frame_Shift_Del	DEL	ENST00000368635.4	37	CCDS5101.1																																																																																				0.612	MARCKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041903.1		NM_002356	
MAP3K4	4216	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	161523807	161523807	+	Silent	SNP	T	T	C			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr6:161523807T>C	ENST00000392142.4	+	19	4000	c.3852T>C	c.(3850-3852)agT>agC	p.S1284S	MAP3K4_ENST00000366919.2_Silent_p.S1234S|MAP3K4_ENST00000366920.2_Silent_p.S1280S|MAP3K4_ENST00000348824.7_Silent_p.S1230S	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1284					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)	p.S1284S(1)|p.S1283S(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TCAGCCAGAGTAAAGGTGAGA	0.363																																																	2	Substitution - coding silent(2)	kidney(2)											41.0	40.0	40.0					6																	161523807		2203	4300	6503	SO:0001819	synonymous_variant	4216			AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.3852T>C	6.37:g.161523807T>C		Somatic		WXS	Illumina HiSeq	Phase_I	A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Silent	SNP	ENST00000392142.4	37	CCDS34565.1																																																																																				0.363	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			
MBD4	8930	broad.mit.edu;ucsc.edu	37	3	129152727	129152727	+	Silent	SNP	A	A	G			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr3:129152727A>G	ENST00000249910.1	-	5	1552	c.1377T>C	c.(1375-1377)ctT>ctC	p.L459L	MBD4_ENST00000503197.1_Silent_p.L459L|MBD4_ENST00000429544.2_Silent_p.L453L|MBD4_ENST00000507208.1_Silent_p.L459L|MBD4_ENST00000509587.1_5'UTR|MBD4_ENST00000393278.2_Silent_p.L141L	NM_003925.1	NP_003916.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	459					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)	p.L459L(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						TAGCGATGAGAAGCTTCCATG	0.428								Base excision repair (BER), DNA glycosylases																																									1	Substitution - coding silent(1)	kidney(1)											117.0	119.0	118.0					3																	129152727		2203	4300	6503	SO:0001819	synonymous_variant	8930			AF072250	CCDS3058.1, CCDS63766.1, CCDS63767.1, CCDS63768.1, CCDS63769.1	3q21.3	2004-03-02			ENSG00000129071	ENSG00000129071			6919	protein-coding gene	gene with protein product		603574				9774669, 10097147	Standard	NM_003925		Approved	MED1	uc003emh.2	O95243	OTTHUMG00000159463	ENST00000249910.1:c.1377T>C	3.37:g.129152727A>G		Somatic		WXS	Illumina GAIIx	Phase_I	B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Silent	SNP	ENST00000249910.1	37	CCDS3058.1																																																																																				0.428	MBD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355529.1		NM_003925	
MDGA2	161357	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	47600945	47600945	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr14:47600945C>T	ENST00000399232.2	-	5	1054	c.690G>A	c.(688-690)atG>atA	p.M230I	MDGA2_ENST00000439988.3_Missense_Mutation_p.M299I|MDGA2_ENST00000357362.3_Start_Codon_SNP_p.M1I|MDGA2_ENST00000426342.1_Start_Codon_SNP_p.M1I	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	230	Ig-like 2.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.M1I(2)|p.M299I(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TAAACGACACCATCTTATCAG	0.313																																																	3	Substitution - Missense(3)	kidney(3)											129.0	116.0	120.0					14																	47600945		1864	4099	5963	SO:0001583	missense	161357			AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.690G>A	14.37:g.47600945C>T	ENSP00000382178:p.Met230Ile	Somatic		WXS	Illumina HiSeq	Phase_I	F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.88|10.88	1.475718|1.475718	0.26511|0.26511	.|.	.|.	ENSG00000139915|ENSG00000139915	ENST00000554762|ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	.|T;T;T;T	.|0.55413	.|1.01;0.52;1.01;0.52	5.34|5.34	5.34|5.34	0.76211|0.76211	.|Immunoglobulin subtype (1);Immunoglobulin-like (1);	.|0.087210	.|0.47455	.|U	.|0.000237	T|T	0.24392|0.24392	0.0591|0.0591	N|N	0.02011|0.02011	-0.69|-0.69	0.80722|0.80722	D|D	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.09377	.|0.004	T|T	0.19160|0.19160	-1.0314|-1.0314	5|10	.|0.16420	.|T	.|0.52	.|.	11.4619|11.4619	0.50215|0.50215	0.0:0.9164:0.0:0.0836|0.0:0.9164:0.0:0.0836	.|.	.|230	.|Q7Z553	.|MDGA2_HUMAN	S|I	33|230;1;299;1	.|ENSP00000400011:M230I;ENSP00000405456:M1I;ENSP00000382178:M299I;ENSP00000349925:M1I	.|ENSP00000349925:M1I	G|M	-|-	1|3	0|0	MDGA2|MDGA2	46670695|46670695	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	2.205000|2.205000	0.42770|0.42770	2.655000|2.655000	0.90218|0.90218	0.585000|0.585000	0.79938|0.79938	GGT|ATG		0.313	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5		NM_182830	
ME2	4200	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	48422198	48422198	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr18:48422198C>T	ENST00000321341.5	+	2	280	c.8C>T	c.(7-9)tCc>tTc	p.S3F	ME2_ENST00000382927.3_Missense_Mutation_p.S3F	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	3					malate metabolic process (GO:0006108)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)	p.S3F(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)		AAGATGTTGTCCCGGTTAAGA	0.388																																																	1	Substitution - Missense(1)	kidney(1)											80.0	73.0	76.0					18																	48422198		2203	4300	6503	SO:0001583	missense	4200			M55905	CCDS11948.1, CCDS54187.1	18q21	2012-10-02			ENSG00000082212	ENSG00000082212	1.1.1.40		6984	protein-coding gene	gene with protein product		154270				1993674	Standard	NM_002396		Approved		uc002ley.3	P23368	OTTHUMG00000132694	ENST00000321341.5:c.8C>T	18.37:g.48422198C>T	ENSP00000321070:p.Ser3Phe	Somatic		WXS	Illumina HiSeq	Phase_I	B2R8J2|Q9BWL6|Q9BYG1|Q9H4B2	Missense_Mutation	SNP	ENST00000321341.5	37	CCDS11948.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.372751	0.82573	.	.	ENSG00000082212	ENST00000321341;ENST00000382927	T;T	0.19250	2.16;2.17	6.07	6.07	0.98685	.	0.053424	0.85682	D	0.000000	T	0.28566	0.0707	N	0.22421	0.69	0.50039	D	0.999844	D;D	0.62365	0.96;0.991	P;P	0.55161	0.698;0.77	T	0.01065	-1.1463	10	0.87932	D	0	-5.4987	17.5607	0.87906	0.0:1.0:0.0:0.0	.	3;3	Q9BWL6;P23368	.;MAOM_HUMAN	F	3	ENSP00000321070:S3F;ENSP00000372384:S3F	ENSP00000321070:S3F	S	+	2	0	ME2	46676196	1.000000	0.71417	0.994000	0.49952	0.974000	0.67602	4.145000	0.58065	2.884000	0.98904	0.655000	0.94253	TCC		0.388	ME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255991.1		NM_002396	
METTL3	56339	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	21967473	21967473	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr14:21967473C>G	ENST00000298717.4	-	9	1646	c.1495G>C	c.(1495-1497)Gat>Cat	p.D499H		NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	499					circadian rhythm (GO:0007623)|gene expression (GO:0010467)|mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|RNA methylation (GO:0001510)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)	p.D499H(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		ACATCACAATCCAGACCCTGG	0.448																																																	1	Substitution - Missense(1)	kidney(1)											175.0	163.0	167.0					14																	21967473		2203	4300	6503	SO:0001583	missense	56339			AF014837	CCDS32044.1	14q11.1	2012-06-12			ENSG00000165819	ENSG00000165819	2.1.1.62		17563	protein-coding gene	gene with protein product	"""N6-adenosine-methyltransferase 70 kDa subunit"""	612472					Standard	XM_006720206		Approved	Spo8, M6A, MT-A70	uc001wbc.3	Q86U44	OTTHUMG00000168825	ENST00000298717.4:c.1495G>C	14.37:g.21967473C>G	ENSP00000298717:p.Asp499His	Somatic		WXS	Illumina HiSeq	Phase_I	O14736|Q86V05|Q9HB32	Missense_Mutation	SNP	ENST00000298717.4	37	CCDS32044.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.113893	0.77210	.	.	ENSG00000165819	ENST00000298717	T	0.52057	0.68	5.33	4.44	0.53790	.	0.000000	0.85682	D	0.000000	T	0.72407	0.3456	M	0.87269	2.87	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78713	-0.2097	10	0.87932	D	0	-12.9462	14.9909	0.71387	0.0:0.8563:0.1437:0.0	.	499	Q86U44	MTA70_HUMAN	H	499	ENSP00000298717:D499H	ENSP00000298717:D499H	D	-	1	0	METTL3	21037313	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.268000	0.65536	1.240000	0.43803	0.467000	0.42956	GAT		0.448	METTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401227.1		NM_019852	
MIR515-2	574465	broad.mit.edu;hgsc.bcm.edu	37	19	54189764	54189764	+	RNA	SNP	C	C	T			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr19:54189764C>T	ENST00000384883.1	+	0	83				MIR1283-1_ENST00000408494.1_RNA|MIR519C_ENST00000385053.1_RNA	NR_030184.1|NR_030187.1				microRNA 515-2																		TTTCTGTTGTCTGAAAGAAAA	0.413																																																	0													141.0	139.0	139.0					19																	54189764		1568	3582	5150			574466					19q13.42	2011-09-12		2008-12-18	ENSG00000207615	ENSG00000207615		"""ncRNAs / Micro RNAs"""	32097	non-coding RNA	RNA, micro				MIRN515-2			Standard	NR_030187		Approved	hsa-mir-515-2					19.37:g.54189764C>T		Somatic		WXS	Illumina HiSeq	Phase_I		RNA	SNP	ENST00000384883.1	37																																																																																					0.413	MIR515-2-201	KNOWN	basic	miRNA	miRNA			NR_030187	
MMP11	4320	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	24122848	24122848	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr22:24122848G>T	ENST00000215743.3	+	4	614	c.562G>T	c.(562-564)Gaa>Taa	p.E188*	MMP11_ENST00000477567.1_3'UTR	NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN	matrix metallopeptidase 11 (stromelysin 3)	188					basement membrane organization (GO:0071711)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|negative regulation of fat cell differentiation (GO:0045599)|proteolysis (GO:0006508)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.E188*(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)			Marimastat(DB00786)	GACTCACCGAGAAGGGGATGT	0.597																																																	1	Substitution - Nonsense(1)	kidney(1)											68.0	67.0	67.0					22																	24122848		2203	4300	6503	SO:0001587	stop_gained	4320				CCDS13816.1	22q11.23	2008-06-11	2005-08-08		ENSG00000099953	ENSG00000099953			7157	protein-coding gene	gene with protein product		185261	"""matrix metalloproteinase 11 (stromelysin 3)"""	STMY3		1639418, 7657606, 12006591	Standard	NM_005940		Approved		uc002zxx.3	P24347	OTTHUMG00000150742	ENST00000215743.3:c.562G>T	22.37:g.24122848G>T	ENSP00000215743:p.Glu188*	Somatic		WXS	Illumina HiSeq	Phase_I	Q5FX24|Q6PEZ6|Q9UC26	Nonsense_Mutation	SNP	ENST00000215743.3	37	CCDS13816.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.049866	0.75846	.	.	ENSG00000099953	ENST00000215743	.	.	.	4.12	3.08	0.35506	.	0.152306	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	13.8392	0.63428	0.0:0.155:0.845:0.0	.	.	.	.	X	188	.	ENSP00000215743:E188X	E	+	1	0	MMP11	22452848	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.514000	0.53422	1.316000	0.45131	0.650000	0.86243	GAA		0.597	MMP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319891.2		NM_005940	
MTUS1	57509	hgsc.bcm.edu	37	8	17573333	17573333	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr8:17573333delA	ENST00000262102.6	-	5	2751	c.2527delT	c.(2527-2529)tatfs	p.Y843fs	MTUS1_ENST00000519263.1_Frame_Shift_Del_p.Y789fs|MTUS1_ENST00000381861.3_Frame_Shift_Del_p.Y90fs|MTUS1_ENST00000544260.1_5'UTR|MTUS1_ENST00000381869.3_Frame_Shift_Del_p.Y789fs	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	843					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		GGCTTCAAATAAAAGGATCCT	0.428																																																	0													157.0	152.0	154.0					8																	17573333		1835	4086	5921	SO:0001589	frameshift_variant	57509			AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.2527delT	8.37:g.17573333delA	ENSP00000262102:p.Tyr843fs	Somatic		WXS	Illumina HiSeq	Phase_I	A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Frame_Shift_Del	DEL	ENST00000262102.6	37	CCDS43717.1																																																																																				0.428	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1		XM_372031	
MYEOV	26579	broad.mit.edu;ucsc.edu	37	11	69063609	69063609	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr11:69063609G>C	ENST00000308946.3	+	3	1142	c.692G>C	c.(691-693)aGg>aCg	p.R231T	MYEOV_ENST00000535407.1_Missense_Mutation_p.R173T|MYEOV_ENST00000441339.2_Missense_Mutation_p.R231T	NM_138768.2	NP_620123.2	Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	231								p.R231T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		GACTATGAAAGGGGAAGAAGA	0.652																																																	1	Substitution - Missense(1)	kidney(1)											86.0	88.0	87.0					11																	69063609		2200	4294	6494	SO:0001583	missense	26579			AJ223366	CCDS8190.1, CCDS73340.1	11q13.2	2013-03-27	2013-03-27			ENSG00000172927			7563	protein-coding gene	gene with protein product		605625	"""myeloma overexpressed (in a subset of t(11;14) positive multiple myelomas)"""			10753852	Standard	XM_005273908		Approved	OCIM	uc001oov.3	Q96EZ4		ENST00000308946.3:c.692G>C	11.37:g.69063609G>C	ENSP00000308330:p.Arg231Thr	Somatic		WXS	Illumina GAIIx	Phase_I	Q9UGN6|Q9UGN7	Missense_Mutation	SNP	ENST00000308946.3	37	CCDS8190.1	.	.	.	.	.	.	.	.	.	.	G	7.014	0.557322	0.13436	.	.	ENSG00000172927	ENST00000441339;ENST00000308946;ENST00000535407	T;T;T	0.25085	1.82;1.82;1.82	1.42	-0.595	0.11660	.	.	.	.	.	T	0.08980	0.0222	N	0.08118	0	0.09310	N	1	P	0.50710	0.938	B	0.34931	0.192	T	0.20605	-1.0270	9	0.87932	D	0	.	3.8549	0.08971	0.4772:0.0:0.5228:0.0	.	231	Q96EZ4	MYEOV_HUMAN	T	231;231;173	ENSP00000412482:R231T;ENSP00000308330:R231T;ENSP00000438100:R173T	ENSP00000308330:R231T	R	+	2	0	MYEOV	68820185	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.205000	0.09411	-0.193000	0.10415	0.313000	0.20887	AGG		0.652	MYEOV-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396548.1			
MYOT	9499	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	137222571	137222571	+	Silent	SNP	T	T	A			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr5:137222571T>A	ENST00000239926.4	+	9	1583	c.1209T>A	c.(1207-1209)acT>acA	p.T403T	PKD2L2_ENST00000290431.5_5'Flank|RP11-381K20.2_ENST00000514616.1_RNA|PKD2L2_ENST00000502810.1_5'Flank|RP11-381K20.2_ENST00000508281.2_RNA|PKD2L2_ENST00000508638.1_5'Flank|PKD2L2_ENST00000508883.1_5'Flank|MYOT_ENST00000515645.1_Silent_p.T288T|PKD2L2_ENST00000350250.4_5'Flank|MYOT_ENST00000421631.2_Silent_p.T219T	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin	403	Ig-like C2-type 2.|Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.				muscle contraction (GO:0006936)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	structural constituent of muscle (GO:0008307)	p.T403T(1)		cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AAGATAACACTGGAAGAGTTA	0.348																																																	1	Substitution - coding silent(1)	kidney(1)											54.0	58.0	57.0					5																	137222571		2203	4299	6502	SO:0001819	synonymous_variant	9499			AF133820	CCDS4194.1, CCDS47268.1, CCDS75309.1	5q31.2	2014-09-17	2005-09-07	2005-09-07	ENSG00000120729	ENSG00000120729		"""Immunoglobulin superfamily / I-set domain containing"""	12399	protein-coding gene	gene with protein product		604103	"""titin immunoglobulin domain protein (myotilin)"", ""limb-girdle muscular dystrophy 1A (autosomal dominant)"""	TTID, LGMD1A, LGMD1		10486214, 10369880	Standard	NM_006790		Approved		uc003lbv.3	Q9UBF9	OTTHUMG00000129154	ENST00000239926.4:c.1209T>A	5.37:g.137222571T>A		Somatic		WXS	Illumina HiSeq	Phase_I	A0A4R6|B4DT79	Silent	SNP	ENST00000239926.4	37	CCDS4194.1																																																																																				0.348	MYOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251219.2		NM_006790	
NALCN	259232	broad.mit.edu;hgsc.bcm.edu	37	13	101763549	101763549	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr13:101763549C>T	ENST00000251127.6	-	19	2302	c.2221G>A	c.(2221-2223)Gga>Aga	p.G741R		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	741					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.G741R(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCAAATGATCCGCTCAGCATG	0.493																																																	1	Substitution - Missense(1)	kidney(1)											111.0	106.0	108.0					13																	101763549		2203	4300	6503	SO:0001583	missense	259232			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.2221G>A	13.37:g.101763549C>T	ENSP00000251127:p.Gly741Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.796071	0.70567	.	.	ENSG00000102452	ENST00000251127	D	0.97598	-4.45	5.31	5.31	0.75309	.	0.052288	0.85682	D	0.000000	D	0.97126	0.9061	L	0.49126	1.545	0.80722	D	1	D	0.69078	0.997	P	0.55303	0.773	D	0.97075	0.9780	10	0.48119	T	0.1	.	18.9692	0.92708	0.0:1.0:0.0:0.0	.	741	Q8IZF0	NALCN_HUMAN	R	741	ENSP00000251127:G741R	ENSP00000251127:G741R	G	-	1	0	NALCN	100561550	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.298000	0.78815	2.490000	0.84030	0.585000	0.79938	GGA		0.493	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2		NM_052867	
NDUFB9	4715	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	125562076	125562076	+	Silent	SNP	T	T	A			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr8:125562076T>A	ENST00000276689.3	+	4	567	c.483T>A	c.(481-483)ggT>ggA	p.G161G	NDUFB9_ENST00000517367.1_Silent_p.G150G|NDUFB9_ENST00000522532.1_Intron|NDUFB9_ENST00000517830.1_Splice_Site	NM_001278646.1|NM_005005.2	NP_001265575.1|NP_004996.1	Q9Y6M9	NDUB9_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa	161					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.G161G(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GAAAGGAAGGTGATTTGCCCC	0.517																																																	1	Substitution - coding silent(1)	kidney(1)											72.0	64.0	67.0					8																	125562076		2203	4300	6503	SO:0001819	synonymous_variant	4715			AF044956	CCDS6352.1	8q24.13	2011-07-04	2002-08-29		ENSG00000147684	ENSG00000147684		"""LYR motif containing"", ""Mitochondrial respiratory chain complex / Complex I"""	7704	protein-coding gene	gene with protein product	"""complex I B22 subunit"""	601445	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9 (22kD, B22)"""			8661098	Standard	NM_005005		Approved	B22, UQOR22, LYRM3	uc003yrg.4	Q9Y6M9	OTTHUMG00000165054	ENST00000276689.3:c.483T>A	8.37:g.125562076T>A		Somatic		WXS	Illumina HiSeq	Phase_I	B2R8M6|Q9UQE8	Silent	SNP	ENST00000276689.3	37	CCDS6352.1																																																																																				0.517	NDUFB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381606.1		NM_005005	
NKRF	55922	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	118724240	118724240	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chrX:118724240T>G	ENST00000371527.1	-	2	1800	c.1148A>C	c.(1147-1149)cAa>cCa	p.Q383P	NKRF_ENST00000542113.1_Missense_Mutation_p.Q398P|NKRF_ENST00000304449.5_Missense_Mutation_p.Q383P|NKRF_ENST00000487600.1_Intron	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	383					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.Q398P(1)|p.Q383P(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						GCAGTGATCTTGTAAAAACAC	0.388																																																	2	Substitution - Missense(2)	kidney(2)											114.0	102.0	106.0					X																	118724240		2203	4300	6503	SO:0001583	missense	55922			AJ011812	CCDS35375.1, CCDS55486.1	Xq24	2013-01-28	2008-03-26		ENSG00000186416	ENSG00000186416		"""G patch domain containing"""	19374	protein-coding gene	gene with protein product		300440	"""NF-kappaB repressing factor"""			10562553	Standard	NM_017544		Approved	ITBA4, NRF	uc022cdk.1	O15226	OTTHUMG00000022277	ENST00000371527.1:c.1148A>C	X.37:g.118724240T>G	ENSP00000360582:p.Gln383Pro	Somatic		WXS	Illumina HiSeq	Phase_I	G3V1N1|Q4VC41|Q9UJ91	Missense_Mutation	SNP	ENST00000371527.1	37	CCDS35375.1	.	.	.	.	.	.	.	.	.	.	T	16.04	3.011041	0.54361	.	.	ENSG00000186416	ENST00000371527;ENST00000304449;ENST00000542113	T;T;T	0.76316	-1.01;-1.01;-1.01	5.85	5.85	0.93711	Double-stranded RNA-binding (1);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.82549	0.5061	M	0.72353	2.195	0.80722	D	1	D	0.57899	0.981	P	0.52109	0.69	T	0.83324	-0.0016	10	0.45353	T	0.12	-14.6743	14.2577	0.66062	0.0:0.0:0.0:1.0	.	383	O15226	NKRF_HUMAN	P	383;383;398	ENSP00000360582:Q383P;ENSP00000304803:Q383P;ENSP00000442308:Q398P	ENSP00000304803:Q383P	Q	-	2	0	NKRF	118608268	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.661000	0.83786	1.965000	0.57142	0.486000	0.48141	CAA		0.388	NKRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058044.1		NM_017544	
NOSTRIN	115677	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	169707624	169707624	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr2:169707624C>A	ENST00000317647.7	+	9	890	c.661C>A	c.(661-663)Caa>Aaa	p.Q221K	NOSTRIN_ENST00000444448.2_Missense_Mutation_p.Q278K|NOSTRIN_ENST00000445023.2_Missense_Mutation_p.Q143K|NOSTRIN_ENST00000397209.2_Missense_Mutation_p.Q193K|NOSTRIN_ENST00000458381.2_Missense_Mutation_p.Q278K|NOSTRIN_ENST00000421711.2_Missense_Mutation_p.Q193K|NOSTRIN_ENST00000397206.2_Missense_Mutation_p.Q143K	NM_001039724.3	NP_001034813.2	Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficking	221					endocytosis (GO:0006897)|negative regulation of transcription, DNA-templated (GO:0045892)|nitric oxide metabolic process (GO:0046209)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoskeleton (GO:0005856)|endocytic vesicle membrane (GO:0030666)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)	p.Q278K(1)|p.Q221K(1)		kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						GGAAAGAATTCAACTTTTATG	0.388																																																	2	Substitution - Missense(2)	kidney(2)											134.0	120.0	125.0					2																	169707624		1894	4122	6016	SO:0001583	missense	115677			AJ532842	CCDS42771.1, CCDS42772.1, CCDS54415.1, CCDS54416.1	2q31.1	2013-08-05	2013-08-05		ENSG00000163072	ENSG00000163072			20203	protein-coding gene	gene with protein product		607496	"""nitric oxide synthase trafficker"""			12446846	Standard	NM_001171631		Approved	MGC20702	uc002ueg.3	Q8IVI9	OTTHUMG00000153990	ENST00000317647.7:c.661C>A	2.37:g.169707624C>A	ENSP00000318921:p.Gln221Lys	Somatic		WXS	Illumina HiSeq	Phase_I	A8K2I9|B3KSF5|E7EPT9|Q27HG3|Q53S62|Q96CJ9	Missense_Mutation	SNP	ENST00000317647.7	37	CCDS42771.1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.298881	0.23650	.	.	ENSG00000163072	ENST00000458381;ENST00000444448;ENST00000317647;ENST00000445023;ENST00000397206;ENST00000397209;ENST00000421711;ENST00000447264	T;T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.67	3.83	0.44106	.	0.167661	0.52532	N	0.000061	T	0.30230	0.0758	L	0.41027	1.25	0.80722	D	1	B;B;B;B;B	0.16166	0.001;0.016;0.007;0.002;0.004	B;B;B;B;B	0.14023	0.001;0.006;0.01;0.002;0.004	T	0.09314	-1.0680	10	0.06365	T	0.9	-18.7825	12.8936	0.58087	0.3104:0.6896:0.0:0.0	.	193;278;115;221;278	Q8IVI9-2;B3KSF5;D3DPB9;Q8IVI9;E7EPT9	.;.;.;NOSTN_HUMAN;.	K	278;278;221;143;143;193;193;143	ENSP00000402140:Q278K;ENSP00000394051:Q278K;ENSP00000318921:Q221K;ENSP00000404413:Q143K;ENSP00000380390:Q143K;ENSP00000380392:Q193K;ENSP00000401316:Q193K;ENSP00000390383:Q143K	ENSP00000318921:Q221K	Q	+	1	0	NOSTRIN	169415870	1.000000	0.71417	1.000000	0.80357	0.700000	0.40528	2.248000	0.43160	0.695000	0.31675	0.561000	0.74099	CAA		0.388	NOSTRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333356.4		NM_052946	
NUDT12	83594	broad.mit.edu;hgsc.bcm.edu	37	5	102891795	102891795	+	Silent	SNP	A	A	C			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr5:102891795A>C	ENST00000230792.2	-	4	897	c.801T>G	c.(799-801)gtT>gtG	p.V267V	NUDT12_ENST00000507423.1_Silent_p.V249V|NUDT12_ENST00000515407.1_5'Flank	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	267					NAD catabolic process (GO:0019677)|NADP catabolic process (GO:0006742)	nucleus (GO:0005634)|peroxisome (GO:0005777)	metal ion binding (GO:0046872)|NAD+ diphosphatase activity (GO:0000210)|NADH pyrophosphatase activity (GO:0035529)	p.V267V(1)		endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		CTTGAGCTACAACCCCTTCAA	0.333																																																	1	Substitution - coding silent(1)	kidney(1)											65.0	62.0	63.0					5																	102891795		2202	4300	6502	SO:0001819	synonymous_variant	83594			AL136592	CCDS4096.1, CCDS75284.1	5q15	2013-01-10			ENSG00000112874	ENSG00000112874		"""Nudix motif containing"", ""Ankyrin repeat domain containing"""	18826	protein-coding gene	gene with protein product	"""nucleoside diphosphate linked moiety X-type motif 12"""	609232				11230166	Standard	XM_005272095		Approved	DKFZP761I172	uc003koi.3	Q9BQG2	OTTHUMG00000128739	ENST00000230792.2:c.801T>G	5.37:g.102891795A>C		Somatic		WXS	Illumina HiSeq	Phase_I	B3KUW2|Q8TAL7	Silent	SNP	ENST00000230792.2	37	CCDS4096.1																																																																																				0.333	NUDT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250650.1		NM_031438	
OR2F1	26211	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	143657717	143657717	+	Silent	SNP	C	C	T			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr7:143657717C>T	ENST00000392899.1	+	1	691	c.654C>T	c.(652-654)taC>taT	p.Y218Y	RP4-669B10.3_ENST00000466281.1_lincRNA	NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	218					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y218Y(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					TTTTGTCCTACATCCAGATCA	0.502																																																	1	Substitution - coding silent(1)	kidney(1)											212.0	190.0	198.0					7																	143657717		2203	4300	6503	SO:0001819	synonymous_variant	26211			U56421	CCDS5887.1	7q35	2013-06-03	2013-06-03		ENSG00000213215	ENSG00000213215		"""GPCR / Class A : Olfactory receptors"""	8246	protein-coding gene	gene with protein product		608497	"""olfactory receptor, family 2, subfamily F, member 1"""	OR2F4, OR2F5, OR2F3, OR2F3P		9500546	Standard	NM_012369		Approved	OLF3, OR7-140, OR7-139, OR14-60	uc003wds.1	Q13607	OTTHUMG00000157771	ENST00000392899.1:c.654C>T	7.37:g.143657717C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A4D2G1|Q6IFP7|Q96R49|Q9UDX1	Silent	SNP	ENST00000392899.1	37	CCDS5887.1																																																																																				0.502	OR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349581.1			
OR4C16	219428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	55339616	55339616	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr11:55339616A>T	ENST00000314634.3	+	1	13	c.13A>T	c.(13-15)Aat>Tat	p.N5Y		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	5						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N5Y(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				GCAACTGAATAATAATGTGAC	0.373																																																	1	Substitution - Missense(1)	kidney(1)											96.0	89.0	92.0					11																	55339616		2201	4296	6497	SO:0001583	missense	219428			AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"""GPCR / Class A : Olfactory receptors"""	15172	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily C, member 16"""				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.13A>T	11.37:g.55339616A>T	ENSP00000324913:p.Asn5Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	Q6IEV8	Missense_Mutation	SNP	ENST00000314634.3	37	CCDS31502.1	.	.	.	.	.	.	.	.	.	.	A	5.489	0.275227	0.10403	.	.	ENSG00000181935	ENST00000314634	T	0.00321	8.11	4.95	3.79	0.43588	.	0.174039	0.40469	N	0.001096	T	0.00210	0.0006	L	0.56340	1.77	0.09310	N	1	B	0.12630	0.006	B	0.18263	0.021	T	0.40346	-0.9568	10	0.66056	D	0.02	.	7.4341	0.27145	0.9006:0.0:0.0994:0.0	.	5	Q8NGL9	OR4CG_HUMAN	Y	5	ENSP00000324913:N5Y	ENSP00000324913:N5Y	N	+	1	0	OR4C16	55096192	0.000000	0.05858	0.091000	0.20842	0.014000	0.08584	0.030000	0.13688	2.090000	0.63153	0.448000	0.29417	AAT		0.373	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382627.1		NM_001004701	
OR8B8	26493	hgsc.bcm.edu;ucsc.edu	37	11	124310727	124310727	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr11:124310727delA	ENST00000328064.2	-	1	327	c.255delT	c.(253-255)tttfs	p.F85fs		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	85					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TCTTTAAGACAAAGCTCATCA	0.423																																																	0													106.0	105.0	106.0					11																	124310727		2201	4299	6500	SO:0001589	frameshift_variant	26493			AF238488	CCDS8446.1	11q24.2	2012-08-09			ENSG00000197125	ENSG00000197125		"""GPCR / Class A : Olfactory receptors"""	8477	protein-coding gene	gene with protein product						9119360	Standard	NM_012378		Approved	TPCR85	uc010sal.2	Q15620	OTTHUMG00000165917	ENST00000328064.2:c.255delT	11.37:g.124310727delA	ENSP00000330280:p.Phe85fs	Somatic		WXS	Illumina HiSeq	Phase_I	A1L446|Q96RC8	Frame_Shift_Del	DEL	ENST00000328064.2	37	CCDS8446.1																																																																																				0.423	OR8B8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387056.1		NM_012378	
PACS1	55690	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	65988247	65988247	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr11:65988247C>T	ENST00000320580.4	+	9	1217	c.1184C>T	c.(1183-1185)cCa>cTa	p.P395L		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	395					protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)	p.P395L(1)	RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						CTCAGCACGCCAAAGCCCAAG	0.572																																																	1	Substitution - Missense(1)	kidney(1)											121.0	110.0	114.0					11																	65988247		2201	4295	6496	SO:0001583	missense	55690			AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.1184C>T	11.37:g.65988247C>T	ENSP00000316454:p.Pro395Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Missense_Mutation	SNP	ENST00000320580.4	37	CCDS8129.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.602729	0.46423	.	.	ENSG00000175115	ENST00000320580	T	0.16743	2.32	5.39	3.5	0.40072	.	0.000000	0.85682	D	0.000000	T	0.20861	0.0502	M	0.72894	2.215	0.80722	D	1	B	0.10296	0.003	B	0.08055	0.003	T	0.06862	-1.0803	10	0.87932	D	0	-12.4177	11.3519	0.49594	0.0:0.8457:0.0:0.1543	.	395	Q6VY07	PACS1_HUMAN	L	395	ENSP00000316454:P395L	ENSP00000316454:P395L	P	+	2	0	PACS1	65744823	1.000000	0.71417	0.058000	0.19502	0.258000	0.26162	7.604000	0.82830	1.274000	0.44362	0.555000	0.69702	CCA		0.572	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2		NM_018026	
PDE5A	8654	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	120446851	120446851	+	Splice_Site	SNP	C	C	A			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr4:120446851C>A	ENST00000354960.3	-	12	1952		c.e12-1		RP11-33B1.1_ENST00000498873.1_RNA|PDE5A_ENST00000512739.1_Splice_Site|PDE5A_ENST00000394439.1_Splice_Site|PDE5A_ENST00000264805.5_Splice_Site	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific						blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)	p.?(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	CCACAGCAGCCTTGGGTAAGG	0.408																																																	1	Unknown(1)	kidney(1)											84.0	82.0	82.0					4																	120446851		2203	4300	6503	SO:0001630	splice_region_variant	8654			D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"""Phosphodiesterases"""	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.1633-1G>T	4.37:g.120446851C>A		Somatic		WXS	Illumina HiSeq	Phase_I	A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Splice_Site	SNP	ENST00000354960.3	37	CCDS3713.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.176176	0.78564	.	.	ENSG00000138735	ENST00000354960;ENST00000394439;ENST00000264805	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9904	0.89166	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PDE5A	120666299	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	7.565000	0.82337	2.244000	0.73946	0.655000	0.94253	.		0.408	PDE5A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256529.1		NM_001083	Intron
PDXK	8566	hgsc.bcm.edu;ucsc.edu	37	21	45163648	45163649	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	TG	TG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr21:45163648_45163649delTG	ENST00000291565.4	+	4	474_475	c.291_292delTG	c.(289-294)attgtgfs	p.V98fs	PDXK_ENST00000468090.1_Intron|PDXK_ENST00000467908.1_Frame_Shift_Del_p.V58fs	NM_003681.4	NP_003672.1	O00764	PDXK_HUMAN	pyridoxal (pyridoxine, vitamin B6) kinase	98					cell proliferation (GO:0008283)|pyridoxal 5'-phosphate salvage (GO:0009443)|pyridoxal phosphate biosynthetic process (GO:0042823)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|lithium ion binding (GO:0031403)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|protein homodimerization activity (GO:0042803)|pyridoxal kinase activity (GO:0008478)|pyridoxal phosphate binding (GO:0030170)|sodium ion binding (GO:0031402)|zinc ion binding (GO:0008270)			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	TGGTGGACATTGTGCAGGAGCT	0.609																																																	0																																										SO:0001589	frameshift_variant	8566			U89606	CCDS13699.1	21q22.3	2007-05-10			ENSG00000160209	ENSG00000160209	2.7.1.35		8819	protein-coding gene	gene with protein product		179020	"""chromosome 21 open reading frame 97"", ""chromosome 21 open reading frame 124"""	C21orf97, C21orf124		9099727	Standard	NM_003681		Approved	PNK, PKH, FLJ21324, PRED79, FLJ31940, MGC15873	uc002zdm.4	O00764	OTTHUMG00000086870	ENST00000291565.4:c.291_292delTG	21.37:g.45163650_45163651delTG	ENSP00000291565:p.Val98fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q7Z2Y0|Q9BS02	Frame_Shift_Del	DEL	ENST00000291565.4	37	CCDS13699.1																																																																																				0.609	PDXK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195636.1		NM_003681	
PFDN5	5204	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	53691896	53691896	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr12:53691896T>G	ENST00000551018.1	+	5	627	c.350T>G	c.(349-351)aTc>aGc	p.I117S	PFDN5_ENST00000351500.3_Missense_Mutation_p.I72S|C12orf10_ENST00000549488.1_5'Flank|PFDN5_ENST00000334478.4_Missense_Mutation_p.I117S|PFDN5_ENST00000550846.1_Missense_Mutation_p.I47S|C12orf10_ENST00000267103.5_5'Flank|RP11-680A11.5_ENST00000550263.1_RNA|C12orf10_ENST00000548632.1_5'Flank	NM_002624.3	NP_002615.2	Q99471	PFD5_HUMAN	prefoldin subunit 5	117					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|protein folding (GO:0006457)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	transcription corepressor activity (GO:0003714)	p.I117S(1)		kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)	8						ATGGAGAAAATCCAACCAGCT	0.453																																																	1	Substitution - Missense(1)	kidney(1)											153.0	159.0	157.0					12																	53691896		2203	4300	6503	SO:0001583	missense	5204			D89667	CCDS8853.1, CCDS8854.1	12q13.13	2008-05-14	2006-02-24						8869	protein-coding gene	gene with protein product		604899	"""prefoldin 5"""			9630229, 9792694	Standard	NM_002624		Approved	PFD5, MM-1	uc001scl.3	Q99471	OTTHUMG00000169675	ENST00000551018.1:c.350T>G	12.37:g.53691896T>G	ENSP00000447942:p.Ile117Ser	Somatic		WXS	Illumina HiSeq	Phase_I	A8K9A8|Q54AA8|Q9C083|Q9C084	Missense_Mutation	SNP	ENST00000551018.1	37	CCDS8853.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.839925	0.91117	.	.	ENSG00000123349	ENST00000551018;ENST00000351500;ENST00000334478	T;T;T	0.42900	0.96;0.96;0.96	5.29	5.29	0.74685	Prefoldin (1);Prefoldin subunit (1);	0.049437	0.85682	D	0.000000	T	0.67664	0.2917	M	0.88310	2.945	0.80722	D	1	D;D	0.69078	0.997;0.973	D;P	0.65874	0.939;0.825	T	0.74959	-0.3486	10	0.87932	D	0	.	13.4877	0.61375	0.0:0.0:0.0:1.0	.	72;117	Q9C083;Q99471	.;PFD5_HUMAN	S	117;72;117	ENSP00000447942:I117S;ENSP00000266964:I72S;ENSP00000334188:I117S	ENSP00000334188:I117S	I	+	2	0	PFDN5	51978163	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.267000	0.78462	2.142000	0.66516	0.454000	0.30748	ATC		0.453	PFDN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405368.2			
PHF14	9678	broad.mit.edu	37	7	11076624	11076624	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr7:11076624G>C	ENST00000403050.3	+	10	2338	c.1886G>C	c.(1885-1887)cGc>cCc	p.R629P	PHF14_ENST00000445996.2_Missense_Mutation_p.R344P	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	629					lung alveolus development (GO:0048286)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.R629P(1)		NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		AGAAATATGCGCATGATTCAA	0.269																																																	1	Substitution - Missense(1)	kidney(1)											36.0	31.0	32.0					7																	11076624		1768	4034	5802	SO:0001583	missense	9678			AB018326	CCDS47542.1	7p21.3	2013-01-28			ENSG00000106443	ENSG00000106443		"""Zinc fingers, PHD-type"""	22203	protein-coding gene	gene with protein product						9872452	Standard	NM_014660		Approved	KIAA0783	uc003sry.2	O94880	OTTHUMG00000150463	ENST00000403050.3:c.1886G>C	7.37:g.11076624G>C	ENSP00000385795:p.Arg629Pro	Somatic		WXS	Illumina GAIIx	Phase_I	A7MCZ3|B4DI82	Missense_Mutation	SNP	ENST00000403050.3	37	CCDS47542.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.464141	0.84425	.	.	ENSG00000106443	ENST00000403050;ENST00000445996	T;T	0.73789	-0.52;-0.78	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.81307	0.4795	L	0.29908	0.895	0.80722	D	1	D;D;D;D	0.71674	0.998;0.996;0.998;0.996	D;D;D;P	0.79108	0.991;0.969;0.992;0.835	T	0.82386	-0.0483	10	0.72032	D	0.01	.	20.2191	0.98319	0.0:0.0:1.0:0.0	.	344;344;629;629	O94880-2;B4DG57;A8MSQ1;O94880	.;.;.;PHF14_HUMAN	P	629;344	ENSP00000385795:R629P;ENSP00000403907:R344P	ENSP00000385795:R629P	R	+	2	0	PHF14	11043149	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.452000	0.97615	2.780000	0.95670	0.655000	0.94253	CGC		0.269	PHF14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318212.1		NM_014660	
PHLPP2	23035	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	71712811	71712811	+	Missense_Mutation	SNP	G	G	T	rs570328608		TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr16:71712811G>T	ENST00000568954.1	-	8	1493	c.1115C>A	c.(1114-1116)tCc>tAc	p.S372Y	PHLPP2_ENST00000393524.2_Missense_Mutation_p.S372Y|PHLPP2_ENST00000360429.3_Missense_Mutation_p.S372Y|PHLPP2_ENST00000356272.3_Missense_Mutation_p.S372Y|PHLPP2_ENST00000567016.1_Missense_Mutation_p.S407Y			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	372					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.S372Y(1)		central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						AATTCCCAAGGAGGAAAGCTG	0.388																																																	1	Substitution - Missense(1)	kidney(1)											71.0	70.0	70.0					16																	71712811		2198	4300	6498	SO:0001583	missense	23035			BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	29149	protein-coding gene	gene with protein product		611066	"""PH domain and leucine rich repeat protein phosphatase-like"""	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.1115C>A	16.37:g.71712811G>T	ENSP00000457991:p.Ser372Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	A1L374|Q9NV17|Q9Y2E3	Missense_Mutation	SNP	ENST00000568954.1	37	CCDS32479.1	.	.	.	.	.	.	.	.	.	.	G	3.951	-0.012302	0.07727	.	.	ENSG00000040199	ENST00000299971;ENST00000360429;ENST00000356272;ENST00000393524;ENST00000538126	T;T;T	0.24908	1.83;1.83;1.83	5.81	5.81	0.92471	.	0.214204	0.49305	D	0.000153	T	0.27967	0.0689	L	0.32530	0.975	0.36262	D	0.854601	D;P	0.54047	0.964;0.924	P;P	0.53861	0.736;0.467	T	0.02736	-1.1117	10	0.02654	T	1	-11.7885	15.3431	0.74314	0.0:0.1494:0.8506:0.0	.	372;372	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	Y	179;372;372;372;372	ENSP00000353610:S372Y;ENSP00000348611:S372Y;ENSP00000377159:S372Y	ENSP00000299971:S179Y	S	-	2	0	PHLPP2	70270312	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	3.395000	0.52558	2.747000	0.94245	0.650000	0.86243	TCC		0.388	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1		NM_015020	
PLEKHH1	57475	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	68047714	68047714	+	Silent	SNP	T	T	A			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr14:68047714T>A	ENST00000329153.5	+	23	3375	c.3243T>A	c.(3241-3243)tcT>tcA	p.S1081S	PLEKHH1_ENST00000417684.2_5'UTR	NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	1081	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoskeleton (GO:0005856)		p.S1120S(1)|p.S1081S(1)		endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CCGGAAAGTCTGAGGGTGGGA	0.527																																																	2	Substitution - coding silent(2)	kidney(2)											87.0	87.0	87.0					14																	68047714		2021	4170	6191	SO:0001819	synonymous_variant	57475			AB033026	CCDS45128.1	14q24.1	2013-01-10				ENSG00000054690		"""Pleckstrin homology (PH) domain containing"""	17733	protein-coding gene	gene with protein product						10574462	Standard	NM_020715		Approved	KIAA1200	uc001xjl.1	Q9ULM0		ENST00000329153.5:c.3243T>A	14.37:g.68047714T>A		Somatic		WXS	Illumina HiSeq	Phase_I	A6H8X6|Q6PJL4|Q6ZWC7	Silent	SNP	ENST00000329153.5	37	CCDS45128.1																																																																																				0.527	PLEKHH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412730.3		XM_031054	
PM20D1	148811	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	205819199	205819199	+	Start_Codon_SNP	SNP	A	A	T			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr1:205819199A>T	ENST00000367136.4	-	1	46	c.2T>A	c.(1-3)aTg>aAg	p.M1K	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	1					negative regulation of neuron death (GO:1901215)|regulation of defense response to virus by host (GO:0050691)|regulation of viral process (GO:0050792)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|peptidase activity (GO:0008233)	p.M1K(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			CCGCTGAGCCATGCTTCTCTC	0.587																																																	1	Substitution - Missense(1)	kidney(1)											61.0	54.0	56.0					1																	205819199		2203	4300	6503	SO:0001582	initiator_codon_variant	148811				CCDS1460.1	1q32.1	2008-02-05			ENSG00000162877	ENSG00000162877			26518	protein-coding gene	gene with protein product							Standard	NM_152491		Approved	FLJ32569, Cps1	uc001hdj.3	Q6GTS8	OTTHUMG00000035999	ENST00000367136.4:c.2T>A	1.37:g.205819199A>T	ENSP00000356104:p.Met1Lys	Somatic		WXS	Illumina HiSeq	Phase_I	Q6P4E3|Q96DM4	Missense_Mutation	SNP	ENST00000367136.4	37	CCDS1460.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.275930	0.80580	.	.	ENSG00000162877	ENST00000367136	T	0.06371	3.31	4.96	4.96	0.65561	.	0.273372	0.45126	D	0.000397	T	0.07007	0.0178	.	.	.	0.49687	D	0.999815	P	0.37466	0.596	B	0.34722	0.188	T	0.13019	-1.0525	9	0.87932	D	0	.	11.1861	0.48657	1.0:0.0:0.0:0.0	.	1	Q6GTS8	P20D1_HUMAN	K	1	ENSP00000356104:M1K	ENSP00000356104:M1K	M	-	2	0	PM20D1	204085822	0.997000	0.39634	0.933000	0.37362	0.598000	0.36846	3.780000	0.55386	2.194000	0.70268	0.533000	0.62120	ATG		0.587	PM20D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087736.1		NM_152491	Missense_Mutation
PPL	5493	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	4940260	4940261	+	Missense_Mutation	DNP	TA	TA	GG			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	T|A	T|A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr16:4940260_4940261TA>GG	ENST00000345988.2	-	18	2326_2327	c.2237_2238TA>CC	c.(2236-2238)cTA>cCC	p.L746P	PPL_ENST00000590782.2_Missense_Mutation_p.L744P	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	746					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.L746P(1)|p.L746L(1)		breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GGATGCTGACTAGGAACTGCAG	0.614																																																	2	Substitution - Missense(1)|Substitution - coding silent(1)	kidney(2)																																								SO:0001583	missense	5493			AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.2237_2238delinsGG	16.37:g.4940260_4940261delinsGG	ENSP00000340510:p.Leu746Pro	Somatic		WXS	Illumina HiSeq	Phase_I	O60314|O60454|Q14C98	Silent|Missense_Mutation	SNP	ENST00000345988.2	37	CCDS10526.1																																																																																				0.614	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1		NM_002705	
PPL	5493	broad.mit.edu;ucsc.edu	37	16	4940294	4940294	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr16:4940294A>G	ENST00000345988.2	-	18	2293	c.2204T>C	c.(2203-2205)tTc>tCc	p.F735S	PPL_ENST00000590782.2_Missense_Mutation_p.F733S	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	735					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.F735S(1)		breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GCCGCGGTGGAAGTGCTCGTA	0.612																																																	1	Substitution - Missense(1)	kidney(1)											117.0	94.0	102.0					16																	4940294		2197	4300	6497	SO:0001583	missense	5493			AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.2204T>C	16.37:g.4940294A>G	ENSP00000340510:p.Phe735Ser	Somatic		WXS	Illumina GAIIx	Phase_I	O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	A	14.87	2.664307	0.47572	.	.	ENSG00000118898	ENST00000345988	T	0.20200	2.09	5.19	1.49	0.22878	.	0.224209	0.39475	N	0.001346	T	0.17323	0.0416	L	0.40543	1.245	0.27189	N	0.960479	B	0.27559	0.181	B	0.28638	0.092	T	0.14309	-1.0477	10	0.72032	D	0.01	.	10.3925	0.44181	0.4286:0.0:0.0:0.5714	.	735	O60437	PEPL_HUMAN	S	735	ENSP00000340510:F735S	ENSP00000340510:F735S	F	-	2	0	PPL	4880295	1.000000	0.71417	0.002000	0.10522	0.002000	0.02628	3.241000	0.51376	-0.030000	0.13804	-0.417000	0.06048	TTC		0.612	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1		NM_002705	
PROM2	150696	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	95947697	95947697	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr2:95947697C>A	ENST00000317620.9	+	13	1709	c.1576C>A	c.(1576-1578)Ccc>Acc	p.P526T	PROM2_ENST00000542147.1_Missense_Mutation_p.P526T|PROM2_ENST00000403131.2_Missense_Mutation_p.P526T|PROM2_ENST00000317668.4_Missense_Mutation_p.P526T	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	526					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)	p.P526T(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						AGGGAACCTGCCCCCGTCCAT	0.637																																																	1	Substitution - Missense(1)	kidney(1)											101.0	95.0	97.0					2																	95947697		2203	4300	6503	SO:0001583	missense	150696			AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.1576C>A	2.37:g.95947697C>A	ENSP00000318270:p.Pro526Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Missense_Mutation	SNP	ENST00000317620.9	37	CCDS2012.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.466832	0.63625	.	.	ENSG00000155066	ENST00000403131;ENST00000317668;ENST00000317620;ENST00000542147	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.18	5.18	0.71444	.	0.085998	0.49916	D	0.000126	T	0.61489	0.2351	M	0.79475	2.455	0.52501	D	0.99995	D	0.76494	0.999	D	0.76071	0.987	T	0.58842	-0.7565	10	0.12430	T	0.62	-23.6498	14.2585	0.66067	0.0:1.0:0.0:0.0	.	526	Q8N271	PROM2_HUMAN	T	526	ENSP00000385716:P526T;ENSP00000318520:P526T;ENSP00000318270:P526T;ENSP00000442542:P526T	ENSP00000318270:P526T	P	+	1	0	PROM2	95311424	1.000000	0.71417	0.974000	0.42286	0.776000	0.43924	4.675000	0.61619	2.430000	0.82344	0.555000	0.69702	CCC		0.637	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252771.1		NM_144707	
RBPJ	3516	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	26430436	26430436	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr4:26430436A>G	ENST00000361572.6	+	8	1075	c.881A>G	c.(880-882)gAa>gGa	p.E294G	RBPJ_ENST00000348160.4_Missense_Mutation_p.E281G|RBPJ_ENST00000345843.3_Missense_Mutation_p.E279G|RBPJ_ENST00000355476.3_Missense_Mutation_p.E280G|RBPJ_ENST00000507561.1_Missense_Mutation_p.E259G|RBPJ_ENST00000504907.1_Missense_Mutation_p.E280G|RBPJ_ENST00000342320.4_Missense_Mutation_p.E280G|RBPJ_ENST00000342295.1_Missense_Mutation_p.E294G			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	294					angiogenesis (GO:0001525)|arterial endothelial cell fate commitment (GO:0060844)|atrioventricular canal development (GO:0036302)|auditory receptor cell fate commitment (GO:0009912)|B cell differentiation (GO:0030183)|blood vessel endothelial cell fate specification (GO:0097101)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac left ventricle morphogenesis (GO:0003214)|Clara cell differentiation (GO:0060486)|defense response to bacterium (GO:0042742)|DNA recombination (GO:0006310)|dorsal aorta morphogenesis (GO:0035912)|endocardium morphogenesis (GO:0003160)|epidermal cell fate specification (GO:0009957)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|gene expression (GO:0010467)|hair follicle maturation (GO:0048820)|humoral immune response (GO:0006959)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901297)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of ephrin receptor signaling pathway (GO:1901189)|positive regulation of ERBB signaling pathway (GO:1901186)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription of Notch receptor target (GO:0007221)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|sebaceous gland development (GO:0048733)|secondary heart field specification (GO:0003139)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|recombinase activity (GO:0000150)|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 core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E281G(1)|p.E280G(1)		central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				AAGGATACAGAAAGAATGTAT	0.323																																																	2	Substitution - Missense(2)	kidney(2)											63.0	66.0	65.0					4																	26430436		2203	4298	6501	SO:0001583	missense	3516			L07872	CCDS3436.1, CCDS3437.1, CCDS33969.1, CCDS43219.1	4p15.2	2013-10-18	2007-02-26	2007-02-26	ENSG00000168214	ENSG00000168214			5724	protein-coding gene	gene with protein product	"""suppressor of hairless homolog (Drosophila)"""	147183	"""recombining binding protein suppressor of hairless (Drosophila)"""	IGKJRB1, RBPSUH		8406481, 9290259	Standard	NM_005349		Approved	SUH, IGKJRB, RBPJK, KBF2, RBP-J, CBF1	uc003gsb.2	Q06330	OTTHUMG00000097793	ENST00000361572.6:c.881A>G	4.37:g.26430436A>G	ENSP00000354528:p.Glu294Gly	Somatic		WXS	Illumina HiSeq	Phase_I	B4DY22|Q5XKH9|Q6P1N3	Missense_Mutation	SNP	ENST00000361572.6	37	CCDS3437.1	.	.	.	.	.	.	.	.	.	.	A	18.21	3.572951	0.65765	.	.	ENSG00000168214	ENST00000345843;ENST00000342295;ENST00000361572;ENST00000348160;ENST00000355476;ENST00000507561;ENST00000504907;ENST00000342320;ENST00000504423	T;T;T;T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47	5.51	5.51	0.81932	Beta-trefoil (2);	0.046514	0.85682	D	0.000000	T	0.29976	0.0750	L	0.36672	1.1	0.80722	D	1	P;P;P;P;P;P	0.42649	0.633;0.754;0.673;0.622;0.622;0.786	B;B;B;B;B;B	0.42343	0.144;0.205;0.384;0.265;0.265;0.384	T	0.04140	-1.0974	10	0.49607	T	0.09	-25.5228	15.6036	0.76646	1.0:0.0:0.0:0.0	.	294;280;281;280;279;294	B7Z8D8;D6R927;B4DY22;Q06330-6;Q06330-4;Q06330	.;.;.;.;.;SUH_HUMAN	G	279;294;294;281;280;259;280;280;32	ENSP00000305815:E279G;ENSP00000345206:E294G;ENSP00000354528:E294G;ENSP00000339699:E281G;ENSP00000347659:E280G;ENSP00000423907:E259G;ENSP00000423703:E280G;ENSP00000340124:E280G;ENSP00000421804:E32G	ENSP00000345206:E294G	E	+	2	0	RBPJ	26039534	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.923000	0.92808	2.100000	0.63781	0.533000	0.62120	GAA		0.323	RBPJ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215046.2		NM_015874	
RC3H2	54542	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	125639776	125639776	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr9:125639776delA	ENST00000373670.1	-	8	1899	c.1299delT	c.(1297-1299)tttfs	p.F433fs	RC3H2_ENST00000357244.2_Frame_Shift_Del_p.F433fs|RC3H2_ENST00000373665.2_Frame_Shift_Del_p.F433fs|RC3H2_ENST00000335387.5_Frame_Shift_Del_p.F433fs|SNORD90_ENST00000391145.1_RNA|RC3H2_ENST00000423239.2_Frame_Shift_Del_p.F433fs			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	433					B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						GAGAATGGGCAAATGTACAAT	0.398																																																	0													294.0	284.0	287.0					9																	125639776		1858	4096	5954	SO:0001589	frameshift_variant	54542			AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	21461	protein-coding gene	gene with protein product		615231	"""membrane associated DNA binding protein"", ""ring finger and CCCH-type zinc finger domains 2"""	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.1299delT	9.37:g.125639776delA	ENSP00000362774:p.Phe433fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Frame_Shift_Del	DEL	ENST00000373670.1	37	CCDS43874.1																																																																																				0.398	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1		NM_018835	
RDM1	201299	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	34257695	34257695	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr17:34257695T>A	ENST00000293273.6	-	1	82	c.37A>T	c.(37-39)Agt>Tgt	p.S13C	RDM1_ENST00000394528.3_Missense_Mutation_p.S13C|RDM1_ENST00000419453.2_5'Flank|RDM1_ENST00000591402.1_5'Flank|RDM1_ENST00000394527.1_5'Flank|RDM1_ENST00000431884.2_Missense_Mutation_p.S13C|RDM1_ENST00000425909.3_Missense_Mutation_p.S13C|RDM1_ENST00000430160.2_5'UTR|RDM1_ENST00000394529.3_5'UTR	NM_145654.3	NP_663629.1	Q8NG50	RDM1_HUMAN	RAD52 motif containing 1	13	Necessary for nuclear localization and for nucleolar accumulation in response to heat shock.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.S13C(2)		breast(1)|kidney(3)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)	9		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GTTTTGTCACTCTCGATGGGA	0.637								Other identified genes with known or suspected DNA repair function																																									2	Substitution - Missense(2)	kidney(2)											87.0	73.0	78.0					17																	34257695		2203	4300	6503	SO:0001583	missense	201299			AB080728	CCDS11301.1, CCDS42299.1, CCDS54111.1, CCDS54108.1, CCDS54109.1, CCDS54110.1, CCDS59280.1, CCDS59281.1	17q11.2	2014-04-10	2014-04-10	2005-10-20	ENSG00000187456	ENSG00000278023		"""RNA binding motif (RRM) containing"""	19950	protein-coding gene	gene with protein product		612896	"""RAD52 homolog B (S. cerevisiae)"", ""RAD52 motif 1"""	RAD52B		15611051	Standard	NM_001163120		Approved	MGC33977	uc002hkh.3	Q8NG50	OTTHUMG00000188399	ENST00000293273.6:c.37A>T	17.37:g.34257695T>A	ENSP00000293273:p.Ser13Cys	Somatic		WXS	Illumina HiSeq	Phase_I	A0JP55|A8MV46|A8MY68|A8MZ92|A8RCS5|A8RCT0|A8RCT5|A8RCT8|A8RCU3|A8RCU8|A8RCW0|A8RCW5	Missense_Mutation	SNP	ENST00000293273.6	37	CCDS11301.1	.	.	.	.	.	.	.	.	.	.	T	28.7	4.942253	0.92526	.	.	ENSG00000187456	ENST00000293273;ENST00000431884;ENST00000425909;ENST00000436836;ENST00000394528	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	4.07	0.246	0.15516	Nucleotide-binding, alpha-beta plait (1);	0.336402	0.29389	N	0.012286	T	0.55641	0.1933	M	0.66939	2.045	0.09310	N	0.999995	D;D;D;D	0.89917	0.999;1.0;0.998;0.999	D;D;P;D	0.69479	0.939;0.964;0.87;0.915	T	0.44605	-0.9317	10	0.87932	D	0	-0.9399	2.6701	0.05065	0.1942:0.2236:0.0:0.5822	.	13;13;13;13	Q8NG50-5;Q8NG50-10;A8MY68;Q8NG50	.;.;.;RDM1_HUMAN	C	13	ENSP00000293273:S13C;ENSP00000391290:S13C;ENSP00000393620:S13C;ENSP00000397431:S13C;ENSP00000378036:S13C	ENSP00000293273:S13C	S	-	1	0	RDM1	31281808	0.000000	0.05858	0.025000	0.17156	0.846000	0.48090	-0.755000	0.04782	0.228000	0.21019	0.533000	0.62120	AGT		0.637	RDM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256588.2		NM_145654	
RNF14	9604	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	141354483	141354483	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr5:141354483C>T	ENST00000394520.2	+	4	578	c.269C>T	c.(268-270)tCa>tTa	p.S90L	RNF14_ENST00000347642.3_Missense_Mutation_p.S90L|RNF14_ENST00000540015.1_Intron|RNF14_ENST00000356143.1_Missense_Mutation_p.S90L|AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000502341.1_Intron|RNF14_ENST00000394514.2_Intron|RNF14_ENST00000394519.1_Missense_Mutation_p.S90L|RNF14_ENST00000394515.3_Missense_Mutation_p.S90L	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	90	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.				androgen receptor signaling pathway (GO:0030521)|positive regulation of transcription, DNA-templated (GO:0045893)|protein ubiquitination (GO:0016567)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|small conjugating protein ligase activity (GO:0019787)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.S90L(1)		cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		TCCCCACCTTCATTCACACTT	0.393																																																	1	Substitution - Missense(1)	kidney(1)											172.0	155.0	160.0					5																	141354483		2203	4300	6503	SO:0001583	missense	9604			AF060544	CCDS4270.1, CCDS4271.1	5q23.3-q31.1	2008-02-05			ENSG00000013561	ENSG00000013561		"""RING-type (C3HC4) zinc fingers"""	10058	protein-coding gene	gene with protein product		605675				10085091, 10320776	Standard	NM_183399		Approved	ARA54, HFB30, TRIAD2	uc003lmc.3	Q9UBS8	OTTHUMG00000129660	ENST00000394520.2:c.269C>T	5.37:g.141354483C>T	ENSP00000378028:p.Ser90Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A0AV26|A6NMR2|A8MTW5|B3KN72|B7ZLV2|D3DQE4|O94793|Q6IBV0	Missense_Mutation	SNP	ENST00000394520.2	37	CCDS4270.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.471362	0.43942	.	.	ENSG00000013561	ENST00000511961;ENST00000506822;ENST00000513019;ENST00000356143;ENST00000394520;ENST00000347642;ENST00000506938;ENST00000394515;ENST00000507163;ENST00000394519	T;T;T;T;T;T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21;1.21;1.21;1.21;1.21;1.21	5.57	5.57	0.84162	Ubiquitin-conjugating enzyme/RWD-like (2);RWD domain (3);	0.241819	0.42420	D	0.000710	T	0.17195	0.0413	N	0.02539	-0.55	0.35606	D	0.808262	B;B	0.13145	0.007;0.001	B;B	0.11329	0.006;0.005	T	0.19549	-1.0302	10	0.23891	T	0.37	.	15.0663	0.71999	0.0:0.93:0.0:0.07	.	90;90	B7Z229;Q9UBS8	.;RNF14_HUMAN	L	90	ENSP00000423420:S90L;ENSP00000423273:S90L;ENSP00000421780:S90L;ENSP00000348462:S90L;ENSP00000378028:S90L;ENSP00000324956:S90L;ENSP00000420837:S90L;ENSP00000378023:S90L;ENSP00000422527:S90L;ENSP00000378027:S90L	ENSP00000324956:S90L	S	+	2	0	RNF14	141334667	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.757000	0.38400	2.774000	0.95407	0.650000	0.86243	TCA		0.393	RNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251860.2		NM_004290	
SCYL3	57147	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	169833584	169833584	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr1:169833584A>G	ENST00000367770.1	-	8	928	c.881T>C	c.(880-882)cTg>cCg	p.L294P	SCYL3_ENST00000367772.4_Missense_Mutation_p.L294P|SCYL3_ENST00000470238.1_5'UTR|SCYL3_ENST00000367771.6_Missense_Mutation_p.L294P			Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	294					cell migration (GO:0016477)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.L294P(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTGATTAAGCAGAAGAGGCAC	0.448																																																	2	Substitution - Missense(2)	kidney(2)											92.0	87.0	88.0					1																	169833584		2203	4300	6503	SO:0001583	missense	57147			BC014662	CCDS1286.1, CCDS1287.1	1q24.2	2008-02-05			ENSG00000000457	ENSG00000000457			19285	protein-coding gene	gene with protein product	"""ezrin-binding partner PACE-1"""	608192				12651155	Standard	NM_020423		Approved	PACE-1, PACE1	uc001ggs.3	Q8IZE3	OTTHUMG00000035941	ENST00000367770.1:c.881T>C	1.37:g.169833584A>G	ENSP00000356744:p.Leu294Pro	Somatic		WXS	Illumina HiSeq	Phase_I	A8K8Z2|Q5THA6|Q5THA8|Q8IZN9|Q96C56|Q9UBK6	Missense_Mutation	SNP	ENST00000367770.1	37	CCDS1287.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.474211	0.84640	.	.	ENSG00000000457	ENST00000367772;ENST00000367771;ENST00000367770;ENST00000423670	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	5.54	5.54	0.83059	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.66645	0.2810	M	0.84585	2.705	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.74034	-0.3794	10	0.87932	D	0	-8.9871	15.3455	0.74334	1.0:0.0:0.0:0.0	.	294;294	Q8IZE3-2;Q8IZE3	.;PACE1_HUMAN	P	294	ENSP00000356746:L294P;ENSP00000356745:L294P;ENSP00000356744:L294P;ENSP00000407993:L294P	ENSP00000356744:L294P	L	-	2	0	SCYL3	168100208	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.957000	0.93082	2.089000	0.63090	0.533000	0.62120	CTG		0.448	SCYL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087550.4		NM_181093	
RYR2	6262	broad.mit.edu	37	1	237955606	237955606	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr1:237955606G>A	ENST00000366574.2	+	94	14082	c.13765G>A	c.(13765-13767)Gga>Aga	p.G4589R	RYR2_ENST00000360064.6_Missense_Mutation_p.G4595R|RYR2_ENST00000542537.1_Missense_Mutation_p.G4573R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4589					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.G4587R(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTGCATCATTGGATACTACTG	0.483																																																	1	Substitution - Missense(1)	kidney(1)											53.0	58.0	56.0					1																	237955606		2050	4183	6233	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.13765G>A	1.37:g.237955606G>A	ENSP00000355533:p.Gly4589Arg	Somatic		WXS	Illumina GAIIx	Phase_I	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.033241	0.93575	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000536033	D;D;D	0.95756	-3.8;-3.8;-3.8	5.49	5.49	0.81192	Ryanodine Receptor TM 4-6 (1);	0.000000	0.64402	U	0.000018	D	0.97359	0.9136	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.97110	0.984;1.0	D	0.97740	1.0208	10	0.87932	D	0	-17.2191	19.7468	0.96255	0.0:0.0:1.0:0.0	.	22;4589	F5H3C7;Q92736	.;RYR2_HUMAN	R	4589;4595;4573;22	ENSP00000355533:G4589R;ENSP00000353174:G4595R;ENSP00000443798:G4573R	ENSP00000353174:G4595R	G	+	1	0	RYR2	236022229	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.809000	0.99208	2.731000	0.93534	0.650000	0.86243	GGA		0.483	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2		NM_001035	
SETD2	29072	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	47125791	47125791	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr3:47125791A>G	ENST00000409792.3	-	12	5521	c.5479T>C	c.(5479-5481)Tgg>Cgg	p.W1827R	SETD2_ENST00000492397.1_5'Flank	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1827					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)	p.W1827R(1)|p.W1324R(1)		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)		GTCTGAGACCAGCGTTGAATA	0.403			"""N, F, S, Mis"""		clear cell renal carcinoma																																			Rec	yes		3	3p21.31	29072	SET domain containing 2		E	2	Substitution - Missense(2)	kidney(2)											85.0	76.0	79.0					3																	47125791		2203	4300	6503	SO:0001583	missense	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.5479T>C	3.37:g.47125791A>G	ENSP00000386759:p.Trp1827Arg	Somatic		WXS	Illumina HiSeq	Phase_I	O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	A	19.73	3.882754	0.72410	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	T	0.23552	1.9	4.56	4.56	0.56223	.	0.000000	0.51477	D	0.000097	T	0.43055	0.1230	L	0.44542	1.39	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	T	0.38950	-0.9637	10	0.87932	D	0	.	14.3831	0.66923	1.0:0.0:0.0:0.0	.	1827;1827	F2Z317;Q9BYW2	.;SETD2_HUMAN	R	1827	ENSP00000386759:W1827R	ENSP00000386759:W1827R	W	-	1	0	SETD2	47100795	1.000000	0.71417	0.988000	0.46212	0.996000	0.88848	8.683000	0.91236	2.036000	0.60181	0.528000	0.53228	TGG		0.403	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2		NM_014159	
SLC16A3	9123	broad.mit.edu;ucsc.edu	37	17	80194627	80194627	+	Silent	SNP	G	G	C			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr17:80194627G>C	ENST00000581287.1	+	2	2568	c.246G>C	c.(244-246)gtG>gtC	p.V82V	SLC16A3_ENST00000392339.1_Silent_p.V82V|SLC16A3_ENST00000582743.1_Silent_p.V82V|SLC16A3_ENST00000392341.1_Silent_p.V82V|SLC16A3_ENST00000584781.1_3'UTR	NM_001206951.1|NM_001206952.1	NP_001193880.1|NP_001193881.1	O15427	MOT4_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 3	82					blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|leukocyte migration (GO:0050900)|monocarboxylic acid transport (GO:0015718)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|poly(A) RNA binding (GO:0044822)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)	p.V82V(1)		endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Gamma Hydroxybutyric Acid(DB01440)|Niacin(DB00627)|Pyruvic acid(DB00119)	GTGTGTGCGTGAACCGCTTTG	0.667											OREG0024821	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(52;652 1135 19190 37282 52456)												1	Substitution - coding silent(1)	kidney(1)											89.0	86.0	87.0					17																	80194627		2203	4300	6503	SO:0001819	synonymous_variant	9123			U81800	CCDS11804.1	17q25.3	2013-07-18	2013-07-18		ENSG00000141526	ENSG00000141526		"""Solute carriers"""	10924	protein-coding gene	gene with protein product		603877	"""solute carrier family 16 (monocarboxylic acid transporters), member 3"", ""solute carrier family 16, member 3 (monocarboxylic acid transporter 4)"""			9425115	Standard	NM_004207		Approved	MCT3, MCT4	uc021ufm.1	O15427	OTTHUMG00000178832	ENST00000581287.1:c.246G>C	17.37:g.80194627G>C		Somatic	1196	WXS	Illumina GAIIx	Phase_I	B3KXG8|Q2M1P8	Silent	SNP	ENST00000581287.1	37	CCDS11804.1																																																																																				0.667	SLC16A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443498.1		NM_004207	
SLC25A12	8604	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	172725235	172725235	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr2:172725235C>A	ENST00000422440.2	-	3	202	c.165G>T	c.(163-165)aaG>aaT	p.K55N	SLC25A12_ENST00000392592.4_5'UTR|SLC25A12_ENST00000472748.1_5'UTR	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	55					aspartate transport (GO:0015810)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)	p.K55N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	GCTGCACGATCTTTGGGTTAC	0.398																																																	1	Substitution - Missense(1)	kidney(1)											104.0	97.0	99.0					2																	172725235		2203	4300	6503	SO:0001583	missense	8604			Y14494	CCDS33327.1	2q24	2013-05-22	2012-03-29		ENSG00000115840	ENSG00000115840		"""Solute carriers"", ""EF-hand domain containing"""	10982	protein-coding gene	gene with protein product		603667	"""solute carrier family 25 (mitochondrial carrier, Aralar), member 12"""			9722566, 10702666, 11566871	Standard	NM_003705		Approved	Aralar	uc002uhh.3	O75746	OTTHUMG00000134290	ENST00000422440.2:c.165G>T	2.37:g.172725235C>A	ENSP00000388658:p.Lys55Asn	Somatic		WXS	Illumina HiSeq	Phase_I	B3KR64|Q96AM8	Missense_Mutation	SNP	ENST00000422440.2	37	CCDS33327.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.985171	0.35036	.	.	ENSG00000115840	ENST00000422440	T	0.79454	-1.27	5.65	5.65	0.86999	EF-hand-like domain (1);	0.457800	0.26029	N	0.026777	T	0.71281	0.3321	L	0.57536	1.79	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.64914	-0.6295	10	0.34782	T	0.22	-3.1051	8.7043	0.34345	0.1545:0.7651:0.0:0.0804	.	55	O75746	CMC1_HUMAN	N	55	ENSP00000388658:K55N	ENSP00000263812:K55N	K	-	3	2	SLC25A12	172433481	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.685000	0.37659	2.941000	0.99782	0.655000	0.94253	AAG		0.398	SLC25A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259010.2		NM_003705	
SMCR8	140775	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	18219366	18219366	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr17:18219366A>G	ENST00000406438.3	+	1	743	c.263A>G	c.(262-264)aAt>aGt	p.N88S	TOP3A_ENST00000542570.1_5'Flank|TOP3A_ENST00000321105.5_5'Flank|TOP3A_ENST00000582230.1_5'Flank	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	88						nucleus (GO:0005634)		p.N88S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						TTTGATCTCAATTACTTCTCC	0.507																																																	1	Substitution - Missense(1)	kidney(1)											204.0	186.0	192.0					17																	18219366		2203	4300	6503	SO:0001583	missense	140775			AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994			17921	protein-coding gene	gene with protein product						11997338, 23248642	Standard	NM_144775		Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.263A>G	17.37:g.18219366A>G	ENSP00000385025:p.Asn88Ser	Somatic		WXS	Illumina HiSeq	Phase_I	A5PKZ5|Q3ZCN0|Q6PJL3	Missense_Mutation	SNP	ENST00000406438.3	37	CCDS11195.2	.	.	.	.	.	.	.	.	.	.	A	18.77	3.695730	0.68386	.	.	ENSG00000176994	ENST00000406438	T	0.29655	1.56	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.52058	0.1711	L	0.54323	1.7	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.51156	-0.8741	10	0.56958	D	0.05	-16.7337	16.1605	0.81700	1.0:0.0:0.0:0.0	.	88	Q8TEV9	SMCR8_HUMAN	S	88	ENSP00000385025:N88S	ENSP00000385025:N88S	N	+	2	0	SMCR8	18160091	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.829000	0.92055	2.220000	0.72140	0.533000	0.62120	AAT		0.507	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132065.2		NM_144775	
SORBS2	8470	broad.mit.edu;ucsc.edu	37	4	186545257	186545257	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr4:186545257G>C	ENST00000284776.7	-	13	1823	c.1314C>G	c.(1312-1314)atC>atG	p.I438M	SORBS2_ENST00000431808.1_Missense_Mutation_p.I438M|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.I342M|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.I538M|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000448662.2_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	438					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)	p.I438M(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		ACCTGTGTCTGATCCTTGATC	0.592																																					Esophageal Squamous(153;41 2433 9491 36028)												1	Substitution - Missense(1)	kidney(1)											78.0	73.0	75.0					4																	186545257		2203	4300	6503	SO:0001583	missense	8470				CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.1314C>G	4.37:g.186545257G>C	ENSP00000284776:p.Ile438Met	Somatic		WXS	Illumina GAIIx	Phase_I	A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	ENST00000284776.7	37	CCDS3845.1	.	.	.	.	.	.	.	.	.	.	G	3.071	-0.191206	0.06299	.	.	ENSG00000154556	ENST00000284776;ENST00000431808;ENST00000418609;ENST00000355634	T;T;T;T	0.35421	1.42;1.42;1.31;1.41	5.76	-3.23	0.05109	.	1.012530	0.07884	N	0.969979	T	0.19846	0.0477	N	0.14661	0.345	0.09310	N	1	B;B;B	0.27559	0.181;0.148;0.181	B;B;B	0.23852	0.045;0.049;0.045	T	0.20306	-1.0279	10	0.48119	T	0.1	-0.1933	8.7287	0.34485	0.2559:0.1747:0.5694:0.0	.	342;538;438	B7Z3X6;B3KPQ7;O94875	.;.;SRBS2_HUMAN	M	438;438;342;538	ENSP00000284776:I438M;ENSP00000411764:I438M;ENSP00000397482:I342M;ENSP00000347852:I538M	ENSP00000284776:I438M	I	-	3	3	SORBS2	186782251	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.465000	0.06680	-1.131000	0.02910	0.563000	0.77884	ATC		0.592	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3		NM_003603	
SRP68	6730	broad.mit.edu;hgsc.bcm.edu	37	17	74042206	74042206	+	Silent	SNP	C	C	T			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr17:74042206C>T	ENST00000307877.2	-	11	1373	c.1212G>A	c.(1210-1212)agG>agA	p.R404R	SRP68_ENST00000602720.1_Silent_p.R65R|SRP68_ENST00000539137.1_Silent_p.R366R|SRP68_ENST00000355113.5_Silent_p.R303R|SRP68_ENST00000542536.2_5'UTR	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	404					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)	p.R404R(1)		NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						GCAGCAGAGCCCTCTGCAGAC	0.532																																																	1	Substitution - coding silent(1)	kidney(1)											164.0	156.0	159.0					17																	74042206		2203	4300	6503	SO:0001819	synonymous_variant	6730			AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"""signal recognition particle 68kD"""			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.1212G>A	17.37:g.74042206C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Silent	SNP	ENST00000307877.2	37	CCDS11738.1																																																																																				0.532	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449487.1		NM_014230	
TALDO1	6888	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	763505	763505	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr11:763505C>A	ENST00000319006.3	+	5	776	c.623C>A	c.(622-624)cCc>cAc	p.P208H	TALDO1_ENST00000528097.1_Missense_Mutation_p.P208H			P37837	TALDO_HUMAN	transaldolase 1	208					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glyceraldehyde-3-phosphate metabolic process (GO:0019682)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	monosaccharide binding (GO:0048029)|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity (GO:0004801)	p.P208H(1)		breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)		TCCTATGAGCCCCTGGAAGAC	0.607																																																	1	Substitution - Missense(1)	kidney(1)											94.0	101.0	98.0					11																	763505		2203	4300	6503	SO:0001583	missense	6888				CCDS7712.1	11p15.5-p15.4	2009-12-02			ENSG00000177156	ENSG00000177156	2.2.1.2		11559	protein-coding gene	gene with protein product		602063				9339383	Standard	NM_006755		Approved		uc001lqz.3	P37837	OTTHUMG00000133318	ENST00000319006.3:c.623C>A	11.37:g.763505C>A	ENSP00000321259:p.Pro208His	Somatic		WXS	Illumina HiSeq	Phase_I	B2R8M2|O00751|Q8WV32|Q8WZ45	Missense_Mutation	SNP	ENST00000319006.3	37	CCDS7712.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.567975	0.86439	.	.	ENSG00000177156	ENST00000319006;ENST00000528097	D;D	0.85702	-2.02;-2.02	4.8	4.8	0.61643	Aldolase-type TIM barrel (1);	0.100137	0.64402	D	0.000001	D	0.92919	0.7747	M	0.88181	2.935	0.80722	D	1	D;P	0.63880	0.993;0.948	D;P	0.63957	0.92;0.796	D	0.94346	0.7575	10	0.87932	D	0	0.3964	17.0162	0.86420	0.0:1.0:0.0:0.0	.	208;208	F2Z393;P37837	.;TALDO_HUMAN	H	208	ENSP00000321259:P208H;ENSP00000437098:P208H	ENSP00000321259:P208H	P	+	2	0	TALDO1	753505	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	7.324000	0.79115	2.384000	0.81235	0.313000	0.20887	CCC		0.607	TALDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257116.1		NM_006755	
THBS1	7057	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	39882215	39882215	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr15:39882215C>A	ENST00000260356.5	+	13	2301	c.2136C>A	c.(2134-2136)caC>caA	p.H712Q		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	712					activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)	p.H712Q(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		CGACTTACCACTGCAAAAAGG	0.512																																																	1	Substitution - Missense(1)	kidney(1)											66.0	54.0	58.0					15																	39882215		2200	4297	6497	SO:0001583	missense	7057				CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.2136C>A	15.37:g.39882215C>A	ENSP00000260356:p.His712Gln	Somatic		WXS	Illumina HiSeq	Phase_I	A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	ENST00000260356.5	37	CCDS32194.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.469311	0.84533	.	.	ENSG00000137801	ENST00000260356	T	0.77098	-1.07	5.79	5.79	0.91817	.	0.000000	0.38058	N	0.001832	D	0.86912	0.6047	M	0.78637	2.42	0.53688	D	0.999977	D;D	0.76494	0.999;0.994	D;D	0.67231	0.95;0.947	D	0.86968	0.2096	10	0.51188	T	0.08	-38.4404	14.2042	0.65724	0.0:0.9286:0.0:0.0714	.	627;712	B4E3J7;P07996	.;TSP1_HUMAN	Q	712	ENSP00000260356:H712Q	ENSP00000260356:H712Q	H	+	3	2	THBS1	37669507	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.083000	0.71326	2.738000	0.93877	0.655000	0.94253	CAC		0.512	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2		NM_003246	
TMED6	146456	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	69385482	69385482	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr16:69385482A>T	ENST00000288025.3	-	1	230	c.175T>A	c.(175-177)Ttt>Att	p.F59I	RP11-343C2.9_ENST00000563634.1_Intron|RP11-343C2.7_ENST00000564737.1_Missense_Mutation_p.I51N	NM_144676.3	NP_653277.2	Q8WW62	TMED6_HUMAN	transmembrane emp24 protein transport domain containing 6	59	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.F59I(1)		breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	9						TGGTGGGCAAATTGCCAAAAG	0.488																																																	1	Substitution - Missense(1)	kidney(1)											90.0	87.0	88.0					16																	69385482		2198	4300	6498	SO:0001583	missense	146456			BC020827	CCDS10878.1	16q22.1	2008-02-05			ENSG00000157315	ENSG00000157315			28331	protein-coding gene	gene with protein product						12477932	Standard	NM_144676		Approved	MGC23911	uc002exc.2	Q8WW62	OTTHUMG00000137571	ENST00000288025.3:c.175T>A	16.37:g.69385482A>T	ENSP00000288025:p.Phe59Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q6UXN5	Missense_Mutation	SNP	ENST00000288025.3	37	CCDS10878.1	.	.	.	.	.	.	.	.	.	.	A	33	5.227831	0.95173	.	.	ENSG00000157315	ENST00000288025	T	0.54279	0.58	5.85	5.85	0.93711	GOLD (2);	0.048871	0.85682	D	0.000000	T	0.65995	0.2745	M	0.73598	2.24	0.80722	D	1	D	0.52996	0.957	P	0.54174	0.744	T	0.65413	-0.6174	10	0.33141	T	0.24	-10.5849	16.2355	0.82371	1.0:0.0:0.0:0.0	.	59	Q8WW62	TMED6_HUMAN	I	59	ENSP00000288025:F59I	ENSP00000288025:F59I	F	-	1	0	TMED6	67942983	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.283000	0.89909	2.238000	0.73509	0.533000	0.62120	TTT		0.488	TMED6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268951.1		NM_144676	
TMOD3	29766	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	52161517	52161517	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr15:52161517C>A	ENST00000308580.7	+	3	511	c.230C>A	c.(229-231)gCa>gAa	p.A77E	TMOD3_ENST00000544199.1_Missense_Mutation_p.A77E	NM_014547.4	NP_055362.1	Q9NYL9	TMOD3_HUMAN	tropomodulin 3 (ubiquitous)	77						striated muscle thin filament (GO:0005865)	tropomyosin binding (GO:0005523)	p.A77E(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|stomach(1)	14				all cancers(107;0.00194)		GAGAAAGAAGCATTGGAGCAT	0.443																																					Colon(122;1837 2251 18387 22826)												1	Substitution - Missense(1)	kidney(1)											102.0	101.0	102.0					15																	52161517		2195	4293	6488	SO:0001583	missense	29766			AF177171	CCDS10145.1	15q21.1-q21.2	2008-05-14			ENSG00000138594	ENSG00000138594			11873	protein-coding gene	gene with protein product		605112				10662549	Standard	NM_014547		Approved	UTMOD	uc002abn.3	Q9NYL9	OTTHUMG00000131803	ENST00000308580.7:c.230C>A	15.37:g.52161517C>A	ENSP00000308753:p.Ala77Glu	Somatic		WXS	Illumina HiSeq	Phase_I	B2R6G7|Q9NT43|Q9NZR0	Missense_Mutation	SNP	ENST00000308580.7	37	CCDS10145.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.853086	0.91355	.	.	ENSG00000138594	ENST00000308580;ENST00000544199	T;T	0.51817	0.69;0.69	5.37	5.37	0.77165	.	0.057762	0.64402	D	0.000002	T	0.74951	0.3784	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78645	-0.2123	10	0.52906	T	0.07	-16.1763	19.1172	0.93346	0.0:1.0:0.0:0.0	.	77	Q9NYL9	TMOD3_HUMAN	E	77	ENSP00000308753:A77E;ENSP00000438909:A77E	ENSP00000308753:A77E	A	+	2	0	TMOD3	49948809	1.000000	0.71417	0.965000	0.40720	0.760000	0.43138	7.788000	0.85771	2.528000	0.85240	0.655000	0.94253	GCA		0.443	TMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254740.3			
TMPRSS6	164656	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	37469600	37469600	+	Silent	SNP	G	G	A			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr22:37469600G>A	ENST00000346753.3	-	13	1670	c.1554C>T	c.(1552-1554)aaC>aaT	p.N518N	TMPRSS6_ENST00000381792.2_Silent_p.N509N|TMPRSS6_ENST00000406856.1_Silent_p.N509N|TMPRSS6_ENST00000406725.1_Silent_p.N509N	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	518	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)	p.N518N(1)		breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CGTCGCTGCCGTTGAGACAAT	0.562																																																	1	Substitution - coding silent(1)	kidney(1)											189.0	143.0	159.0					22																	37469600		2203	4300	6503	SO:0001819	synonymous_variant	164656			AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"""Serine peptidases / Transmembrane"""	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.1554C>T	22.37:g.37469600G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Silent	SNP	ENST00000346753.3	37	CCDS13941.1																																																																																				0.562	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1		NM_153609	
TMPRSS6	164656	broad.mit.edu	37	22	37499264	37499264	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr22:37499264T>A	ENST00000346753.3	-	2	337	c.221A>T	c.(220-222)tAt>tTt	p.Y74F	TMPRSS6_ENST00000381792.2_Missense_Mutation_p.Y65F|TMPRSS6_ENST00000442782.2_Missense_Mutation_p.Y74F|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.Y65F|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.Y65F	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	74					angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)	p.Y74F(1)		breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						ACCTAGGAAATACCAGAGTAG	0.632																																																	1	Substitution - Missense(1)	kidney(1)											41.0	39.0	40.0					22																	37499264		2203	4300	6503	SO:0001583	missense	164656			AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"""Serine peptidases / Transmembrane"""	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.221A>T	22.37:g.37499264T>A	ENSP00000334962:p.Tyr74Phe	Somatic		WXS	Illumina GAIIx	Phase_I	B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	ENST00000346753.3	37	CCDS13941.1	.	.	.	.	.	.	.	.	.	.	T	18.24	3.579204	0.65878	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856;ENST00000442782;ENST00000423761	D;D;D;D;T;D	0.91792	-2.91;-2.91;-2.91;-2.91;-0.92;-2.77	4.39	4.39	0.52855	.	0.000000	0.64402	D	0.000002	D	0.94377	0.8192	M	0.63843	1.955	0.40024	D	0.975447	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.997;0.996;0.991	D	0.94362	0.7588	10	0.59425	D	0.04	.	10.0448	0.42180	0.0:0.0:0.0:1.0	.	74;65;74	Q8IU80-2;Q8IU80-5;Q8IU80	.;.;TMPS6_HUMAN	F	65;74;65;65;74;65	ENSP00000371211:Y65F;ENSP00000334962:Y74F;ENSP00000385453:Y65F;ENSP00000384964:Y65F;ENSP00000397691:Y74F;ENSP00000400317:Y65F	ENSP00000334962:Y74F	Y	-	2	0	TMPRSS6	35829210	1.000000	0.71417	1.000000	0.80357	0.675000	0.39556	4.050000	0.57404	1.634000	0.50500	0.448000	0.29417	TAT		0.632	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1		NM_153609	
TOP2A	7153	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	38545832	38545832	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr17:38545832G>A	ENST00000423485.1	-	35	4693	c.4535C>T	c.(4534-4536)tCt>tTt	p.S1512F	Y_RNA_ENST00000410949.1_RNA	NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	1512					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)	p.S1512F(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	TGCCCGTACAGATTTTGCCCG	0.408																																																	1	Substitution - Missense(1)	kidney(1)											52.0	50.0	50.0					17																	38545832		1848	4093	5941	SO:0001583	missense	7153				CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"""topoisomerase (DNA) II alpha (170kD)"""	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.4535C>T	17.37:g.38545832G>A	ENSP00000411532:p.Ser1512Phe	Somatic		WXS	Illumina HiSeq	Phase_I	B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Missense_Mutation	SNP	ENST00000423485.1	37	CCDS45672.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.656459	0.47467	.	.	ENSG00000131747	ENST00000423485;ENST00000269577;ENST00000348049;ENST00000357601	T	0.53857	0.6	5.35	5.35	0.76521	DTHCT (1);	0.168639	0.53938	D	0.000053	T	0.59810	0.2221	L	0.56769	1.78	0.40726	D	0.982709	D	0.53885	0.963	P	0.51487	0.671	T	0.63202	-0.6690	10	0.66056	D	0.02	.	14.285	0.66240	0.0:0.1481:0.8519:0.0	.	1512	P11388	TOP2A_HUMAN	F	1512;1592;1535;1549	ENSP00000411532:S1512F	ENSP00000269577:S1592F	S	-	2	0	TOP2A	35799358	1.000000	0.71417	0.971000	0.41717	0.127000	0.20565	4.753000	0.62183	2.941000	0.99782	0.655000	0.94253	TCT		0.408	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1			
TP53BP1	7158	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	43748191	43748191	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr15:43748191G>T	ENST00000263801.3	-	12	2852	c.2600C>A	c.(2599-2601)tCa>tAa	p.S867*	TP53BP1_ENST00000450115.2_Nonsense_Mutation_p.S872*|TP53BP1_ENST00000382039.3_Nonsense_Mutation_p.S872*|TP53BP1_ENST00000382044.4_Nonsense_Mutation_p.S872*|TP53BP1_ENST00000605155.1_5'UTR	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	867					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)	p.S867*(1)		breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		AGCCATTTTTGAGTCTTCTGT	0.463								Other conserved DNA damage response genes																																									1	Substitution - Nonsense(1)	kidney(1)											141.0	141.0	141.0					15																	43748191		2201	4298	6499	SO:0001587	stop_gained	7158			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.2600C>A	15.37:g.43748191G>T	ENSP00000263801:p.Ser867*	Somatic		WXS	Illumina HiSeq	Phase_I	F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Nonsense_Mutation	SNP	ENST00000263801.3	37	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	G	40	8.254836	0.98727	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546;ENST00000414758	.	.	.	5.37	4.45	0.53987	.	0.803616	0.11245	N	0.584204	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0034	13.456	0.61199	0.0828:0.0:0.9172:0.0	.	.	.	.	X	867;872;872;872;872;11	.	ENSP00000263801:S867X	S	-	2	0	TP53BP1	41535483	0.974000	0.33945	0.994000	0.49952	0.530000	0.34684	2.025000	0.41059	0.761000	0.33130	-0.813000	0.03139	TCA		0.463	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			
TTC28	23331	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	28504358	28504358	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr22:28504358G>T	ENST00000397906.2	-	7	1616	c.1475C>A	c.(1474-1476)aCt>aAt	p.T492N		NM_001145418.1	NP_001138890.1	Q96AY4	TTC28_HUMAN	tetratricopeptide repeat domain 28	492					mitotic nuclear division (GO:0007067)|regulation of mitotic cell cycle (GO:0007346)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)		p.T492N(1)		endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)	12						TTTCAGTGCAGTGTCATAATC	0.433																																																	1	Substitution - Missense(1)	kidney(1)											35.0	31.0	33.0					22																	28504358		692	1591	2283	SO:0001583	missense	23331			AB028966	CCDS46678.1	22q12.1	2013-01-10			ENSG00000100154	ENSG00000100154		"""Tetratricopeptide (TTC) repeat domain containing"""	29179	protein-coding gene	gene with protein product		615098				10470851	Standard	NM_001145418		Approved	KIAA1043	uc003adp.4	Q96AY4	OTTHUMG00000151006	ENST00000397906.2:c.1475C>A	22.37:g.28504358G>T	ENSP00000381003:p.Thr492Asn	Somatic		WXS	Illumina HiSeq	Phase_I	K7ZRV2|O95928|O95929|Q5W189|Q9NTE4|Q9UG31|Q9UGG5|Q9UPV8|Q9Y3S5	Missense_Mutation	SNP	ENST00000397906.2	37	CCDS46678.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.363109	0.61513	.	.	ENSG00000100154	ENST00000397906	D	0.93906	-3.31	5.91	5.91	0.95273	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.121254	0.56097	D	0.000033	D	0.92691	0.7677	L	0.37800	1.135	0.58432	D	0.999999	P	0.43024	0.798	P	0.49502	0.613	D	0.90402	0.4403	10	0.24483	T	0.36	-10.8315	19.2867	0.94077	0.0:0.0:1.0:0.0	.	492	Q96AY4	TTC28_HUMAN	N	492	ENSP00000381003:T492N	ENSP00000381003:T492N	T	-	2	0	TTC28	26834358	1.000000	0.71417	0.927000	0.36925	0.999000	0.98932	9.238000	0.95380	2.793000	0.96121	0.655000	0.94253	ACT		0.433	TTC28-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000320930.2		XM_929318	
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179468956	179468956	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr2:179468956C>T	ENST00000591111.1	-	232	49759	c.49535G>A	c.(49534-49536)tGc>tAc	p.C16512Y	TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.C15585Y|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.C18153Y|TTN_ENST00000359218.5_Missense_Mutation_p.C9213Y|TTN_ENST00000342175.6_Missense_Mutation_p.C9280Y|TTN_ENST00000460472.2_Missense_Mutation_p.C9088Y|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16512	Fibronectin type-III 19. {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.C15585Y(2)|p.C9088Y(1)|p.C9280Y(1)|p.C9213Y(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)			ATCTGATTTGCACTCATCACT	0.408																																																	5	Substitution - Missense(5)	kidney(5)											96.0	92.0	93.0					2																	179468956		1907	4126	6033	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.49535G>A	2.37:g.179468956C>T	ENSP00000465570:p.Cys16512Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	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	14.83	2.652036	0.47362	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.62639	0.01;0.25;0.23;0.22	6.17	6.17	0.99709	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79364	0.4433	L	0.61218	1.895	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.83275	0.996;0.996;0.996;0.996	T	0.78583	-0.2148	9	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	9088;9213;9280;16512	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Y	15585;9088;9280;9213;9088	ENSP00000343764:C15585Y;ENSP00000434586:C9088Y;ENSP00000340554:C9280Y;ENSP00000352154:C9213Y	ENSP00000340554:C9280Y	C	-	2	0	TTN	179177201	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.978000	0.70501	2.941000	0.99782	0.655000	0.94253	TGC		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378	
UBAP2	55833	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	33941709	33941709	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr9:33941709G>T	ENST00000379238.1	-	16	1984	c.1867C>A	c.(1867-1869)Cat>Aat	p.H623N	UBAP2_ENST00000379225.1_Missense_Mutation_p.H256N|UBAP2_ENST00000418786.2_Missense_Mutation_p.H570N|UBAP2_ENST00000449054.1_Missense_Mutation_p.H623N|UBAP2_ENST00000360802.1_Missense_Mutation_p.H623N|UBAP2_ENST00000539807.1_Missense_Mutation_p.H378N|UBAP2_ENST00000379239.4_Missense_Mutation_p.H356N					ubiquitin associated protein 2									p.H623N(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		ATCCTGTTATGCACAGAACTC	0.438																																																	1	Substitution - Missense(1)	kidney(1)											133.0	121.0	125.0					9																	33941709		2203	4300	6503	SO:0001583	missense	55833			AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.1867C>A	9.37:g.33941709G>T	ENSP00000368540:p.His623Asn	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000379238.1	37	CCDS6547.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.575140	0.86542	.	.	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000379239;ENST00000539807;ENST00000418786;ENST00000379225	T;T;T;T;T;T;T	0.25912	2.7;2.7;2.7;2.49;2.49;2.15;1.77	6.03	6.03	0.97812	.	0.046300	0.85682	D	0.000000	T	0.52773	0.1755	M	0.73962	2.25	0.58432	D	0.999999	P;D;P;P;P;D;D;D	0.76494	0.763;0.999;0.634;0.763;0.763;0.998;0.999;0.998	B;D;B;B;B;D;D;D	0.83275	0.382;0.996;0.295;0.295;0.382;0.986;0.991;0.991	T	0.30995	-0.9959	10	0.19147	T	0.46	-4.0376	20.5568	0.99304	0.0:0.0:1.0:0.0	.	570;548;378;356;532;256;548;623	E7EWG4;F5H4D5;F5H2U4;A6NCA8;F5H2C8;A2A306;B4DH66;Q5T6F2	.;.;.;.;.;.;.;UBAP2_HUMAN	N	623;623;623;532;356;378;570;256	ENSP00000368540:H623N;ENSP00000416932:H623N;ENSP00000354039:H623N;ENSP00000368541:H356N;ENSP00000439329:H378N;ENSP00000404436:H570N;ENSP00000368527:H256N	ENSP00000354039:H623N	H	-	1	0	UBAP2	33931709	1.000000	0.71417	0.995000	0.50966	0.939000	0.58152	6.746000	0.74866	2.861000	0.98227	0.655000	0.94253	CAT		0.438	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1		NM_018449	
URGCP	55665	broad.mit.edu;hgsc.bcm.edu	37	7	43916855	43916855	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr7:43916855G>T	ENST00000453200.1	-	6	2700	c.2207C>A	c.(2206-2208)gCt>gAt	p.A736D	URGCP_ENST00000336086.6_Missense_Mutation_p.A693D|URGCP_ENST00000443736.1_Missense_Mutation_p.A693D|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000447717.3_Missense_Mutation_p.A693D|URGCP_ENST00000223341.7_Missense_Mutation_p.A693D|URGCP_ENST00000402306.3_Missense_Mutation_p.A727D|URGCP_ENST00000497914.1_5'UTR			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	736	VLIG-type G.				cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)	p.A736D(1)|p.A693D(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GAAGCCCTCAGCCACTGTGAT	0.602																																																	2	Substitution - Missense(2)	kidney(2)											40.0	43.0	42.0					7																	43916855		2071	4221	6292	SO:0001583	missense	55665				CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"""up-regulated gene 4"""	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.2207C>A	7.37:g.43916855G>T	ENSP00000396918:p.Ala736Asp	Somatic		WXS	Illumina HiSeq	Phase_I	E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Missense_Mutation	SNP	ENST00000453200.1	37	CCDS47578.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.224107	0.39300	.	.	ENSG00000106608	ENST00000223341;ENST00000336086;ENST00000402306;ENST00000443736;ENST00000453200;ENST00000447717	T;T;T;T;T;T	0.61980	0.06;0.06;0.06;0.06;0.06;0.06	5.51	5.51	0.81932	.	0.524984	0.21208	N	0.078353	T	0.54319	0.1851	L	0.46157	1.445	0.09310	N	1	B;B	0.23185	0.081;0.081	B;B	0.18561	0.022;0.022	T	0.47824	-0.9087	10	0.41790	T	0.15	-10.8219	11.909	0.52729	0.0:0.0:0.8258:0.1742	.	727;736	Q8TCY9-2;Q8TCY9	.;URGCP_HUMAN	D	693;693;727;693;736;693	ENSP00000223341:A693D;ENSP00000336872:A693D;ENSP00000384955:A727D;ENSP00000392136:A693D;ENSP00000396918:A736D;ENSP00000402803:A693D	ENSP00000223341:A693D	A	-	2	0	URGCP	43883380	0.002000	0.14202	0.955000	0.39395	0.983000	0.72400	1.186000	0.32078	2.586000	0.87340	0.591000	0.81541	GCT		0.602	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1		NM_001077664	
XPO5	57510	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	43493658	43493658	+	Splice_Site	SNP	A	A	G			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr6:43493658A>G	ENST00000265351.7	-	28	3195	c.2985T>C	c.(2983-2985)gaT>gaC	p.D995D	POLR1C_ENST00000304004.3_Intron	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	995					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|tRNA binding (GO:0000049)	p.D995D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			TCATTTCTTCATCTGTTATCA	0.453																																																	1	Substitution - coding silent(1)	kidney(1)											93.0	91.0	91.0					6																	43493658		1907	4132	6039	SO:0001630	splice_region_variant	57510			AB033117	CCDS47430.1	6p21.1	2011-04-13			ENSG00000124571	ENSG00000124571		"""Exportins"""	17675	protein-coding gene	gene with protein product		607845				11777942, 12426392	Standard	NM_020750		Approved	KIAA1291	uc003ovp.3	Q9HAV4	OTTHUMG00000014742	ENST00000265351.7:c.2984-1T>C	6.37:g.43493658A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Silent	SNP	ENST00000265351.7	37	CCDS47430.1	.	.	.	.	.	.	.	.	.	.	A	10.55	1.381913	0.24944	.	.	ENSG00000124571	ENST00000455285	.	.	.	6.07	3.66	0.41972	.	.	.	.	.	T	0.41143	0.1146	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37079	-0.9721	4	.	.	.	.	6.1903	0.20520	0.724:0.136:0.14:0.0	.	.	.	.	T	110	.	.	M	-	2	0	XPO5	43601636	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.115000	0.41921	1.073000	0.40885	0.533000	0.62120	ATG		0.453	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040657.2		NM_020750	Silent
ZBTB37	84614	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	173854993	173854993	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr1:173854993C>A	ENST00000367701.5	+	4	1434	c.1243C>A	c.(1243-1245)Cag>Aag	p.Q415K	ZBTB37_ENST00000427304.1_Missense_Mutation_p.Q415K|ZBTB37_ENST00000367704.1_3'UTR			Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37	415					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.Q415K(1)		endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						CCGGAAAGATCAGCTGGAGTA	0.517																																																	1	Substitution - Missense(1)	kidney(1)											158.0	130.0	138.0					1																	173854993		692	1591	2283	SO:0001583	missense	84614			AK057310	CCDS1312.1, CCDS44278.1	1q24.2	2013-01-08			ENSG00000185278	ENSG00000185278		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	28365	protein-coding gene	gene with protein product						12477932	Standard	NM_032522		Approved	MGC2629, ZNF908	uc009wwp.1	Q5TC79	OTTHUMG00000037274	ENST00000367701.5:c.1243C>A	1.37:g.173854993C>A	ENSP00000356674:p.Gln415Lys	Somatic		WXS	Illumina HiSeq	Phase_I	Q5TC80|Q96M87|Q9BQ88	Missense_Mutation	SNP	ENST00000367701.5	37	CCDS44278.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.313235	0.81358	.	.	ENSG00000185278	ENST00000427304;ENST00000367703;ENST00000367701	T;T	0.60171	0.21;0.21	5.74	5.74	0.90152	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.049795	0.85682	D	0.000000	T	0.45975	0.1369	N	0.16166	0.38	0.80722	D	1	P	0.46784	0.884	P	0.59171	0.853	T	0.35798	-0.9774	10	0.10377	T	0.69	.	19.9403	0.97159	0.0:1.0:0.0:0.0	.	415	Q5TC79	ZBT37_HUMAN	K	415;323;415	ENSP00000415293:Q415K;ENSP00000356674:Q415K	ENSP00000356674:Q415K	Q	+	1	0	ZBTB37	172121616	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.792000	0.85828	2.712000	0.92718	0.650000	0.86243	CAG		0.517	ZBTB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090729.2		NM_032522	
ZFPM2	23414	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	106814187	106814187	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr8:106814187T>G	ENST00000407775.2	+	8	2127	c.1877T>G	c.(1876-1878)aTc>aGc	p.I626S	RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000378472.4_Missense_Mutation_p.I357S|ZFPM2_ENST00000520492.1_Missense_Mutation_p.I494S|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.I494S|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	626					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.I626S(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			ACATCTTGCATCAATTCTTCC	0.448																																																	1	Substitution - Missense(1)	kidney(1)											87.0	82.0	84.0					8																	106814187		1900	4143	6043	SO:0001583	missense	23414			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.1877T>G	8.37:g.106814187T>G	ENSP00000384179:p.Ile626Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	T	13.48	2.249304	0.39797	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.20069	2.1;2.56;2.56;3.81	5.86	5.86	0.93980	.	0.219510	0.46758	D	0.000279	T	0.16257	0.0391	L	0.27053	0.805	0.51767	D	0.999937	B	0.20550	0.046	B	0.24541	0.054	T	0.08086	-1.0739	10	0.10377	T	0.69	.	16.2479	0.82454	0.0:0.0:0.0:1.0	.	626	Q8WW38	FOG2_HUMAN	S	626;494;494;357	ENSP00000384179:I626S;ENSP00000430757:I494S;ENSP00000428720:I494S;ENSP00000367733:I357S	ENSP00000367733:I357S	I	+	2	0	ZFPM2	106883363	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.241000	0.73720	0.533000	0.62120	ATC		0.448	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			
ZNF546	339327	hgsc.bcm.edu;ucsc.edu	37	19	40519822	40519824	+	In_Frame_Del	DEL	ATC	ATC	-			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	ATC	ATC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr19:40519822_40519824delATC	ENST00000347077.4	+	7	861_863	c.645_647delATC	c.(643-648)aaatca>aaa	p.S216del	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_In_Frame_Del_p.S190del	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	216					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CTAGAGAGAAATCATATGAATGT	0.365																																																	0																																										SO:0001651	inframe_deletion	339327			BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"""Zinc fingers, C2H2-type"", ""-"""	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.645_647delATC	19.37:g.40519822_40519824delATC	ENSP00000339823:p.Ser216del	Somatic		WXS	Illumina HiSeq	Phase_I	A8K913	In_Frame_Del	DEL	ENST00000347077.4	37	CCDS12548.1																																																																																				0.365	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2		NM_178544	
ZNF304	57343	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	57865150	57865150	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr19:57865150C>T	ENST00000282286.5	+	2	264	c.91C>T	c.(91-93)Ctt>Ttt	p.L31F	ZNF304_ENST00000391705.3_Missense_Mutation_p.L31F|CTC-444N24.13_ENST00000597973.1_RNA|ZNF304_ENST00000443917.2_Missense_Mutation_p.L31F|ZNF304_ENST00000598744.1_5'UTR			Q9HCX3	ZN304_HUMAN	zinc finger protein 304	31	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.L31F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GTGGGAACTCCTTGAGGAGGC	0.483																																																	1	Substitution - Missense(1)	kidney(1)											267.0	201.0	223.0					19																	57865150		2203	4300	6503	SO:0001583	missense	57343			AJ276316	CCDS12950.1, CCDS74462.1	19q13.4	2013-01-08				ENSG00000131845		"""Zinc fingers, C2H2-type"", ""-"""	13505	protein-coding gene	gene with protein product		613840					Standard	XM_005259090		Approved		uc010ygw.2	Q9HCX3		ENST00000282286.5:c.91C>T	19.37:g.57865150C>T	ENSP00000282286:p.Leu31Phe	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000282286.5	37	CCDS12950.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.557007	0.65425	.	.	ENSG00000131845	ENST00000282286;ENST00000391705;ENST00000443917	T;T;T	0.18960	2.18;2.18;2.18	3.34	3.34	0.38264	Krueppel-associated box (4);	.	.	.	.	T	0.66036	0.2749	H	0.99619	4.66	0.09310	N	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.65553	-0.6140	9	0.87932	D	0	.	12.6075	0.56531	0.0:1.0:0.0:0.0	.	31;31	Q9HCX3;E7EQD3	ZN304_HUMAN;.	F	31	ENSP00000282286:L31F;ENSP00000375586:L31F;ENSP00000401642:L31F	ENSP00000282286:L31F	L	+	1	0	ZNF304	62556962	0.967000	0.33354	0.327000	0.25402	0.993000	0.82548	1.430000	0.34914	2.175000	0.68902	0.557000	0.71058	CTT		0.483	ZNF304-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465785.1			
ZNF683	257101	hgsc.bcm.edu	37	1	26691287	26691310	+	In_Frame_Del	DEL	CCACCGAGCGCTGGGGTGCCCCAG	CCACCGAGCGCTGGGGTGCCCCAG	-	rs200435398|rs148069404|rs201284148|rs372936882|rs144078461|rs145815386	byFrequency	TCGA-CZ-5459-01A-01D-1501-10	TCGA-CZ-5459-11A-01D-1501-10	CCACCGAGCGCTGGGGTGCCCCAG	CCACCGAGCGCTGGGGTGCCCCAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5711cdaa-7368-4a4f-8639-5df60a2fedac	c1fea46c-46f7-4801-9572-53b18bf75f56	g.chr1:26691287_26691310delCCACCGAGCGCTGGGGTGCCCCAG	ENST00000436292.1	-	4	847_870	c.727_750delCTGGGGCACCCCAGCGCTCGGTGG	c.(727-750)ctggggcaccccagcgctcggtggdel	p.LGHPSARW243del	ZNF683_ENST00000403843.1_In_Frame_Del_p.LGHPSARW243del|ZNF683_ENST00000349618.3_In_Frame_Del_p.LGHPSARW243del|ZNF683_ENST00000374204.1_In_Frame_Del_p.LGHPSARW243del			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	243					natural killer cell differentiation (GO:0001779)|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.L228_W235delLGHPSARW(1)|p.L243_W250delLGHPSARW(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|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;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		GCAGGGTCTCCCACCGAGCGCTGGGGTGCCCCAGCTCATTGACC	0.643														765	0.152756	0.3585	0.072	5008	,	,		17943	0.0427		0.1004	False		,,,				2504	0.0992																2	Deletion - In frame(2)	large_intestine(2)							,	1178,3066		193,792,1137					,	-0.1	0.0		dbSNP_134	41	676,7574		34,608,3483	no	coding,coding	ZNF683	NM_173574.2,NM_001114759.1	,	227,1400,4620	A1A1,A1R,RR		8.1939,27.7568,14.8391	,	,		1854,10640				SO:0001651	inframe_deletion	257101			BC029505	CCDS279.2	1p36.11	2013-01-08			ENSG00000176083	ENSG00000176083		"""Zinc fingers, C2H2-type"""	28495	protein-coding gene	gene with protein product	"""hypothetical protein MGC33414"""					12477932	Standard	NM_173574		Approved	MGC33414	uc009vsj.1	Q8IZ20	OTTHUMG00000003521	ENST00000436292.1:c.727_750delCTGGGGCACCCCAGCGCTCGGTGG	1.37:g.26691287_26691310delCCACCGAGCGCTGGGGTGCCCCAG	ENSP00000388792:p.Leu243_Trp250del	Somatic		WXS	Illumina HiSeq	Phase_I	Q5T141|Q5T146|Q5T147|Q5T149|Q8NEN4	In_Frame_Del	DEL	ENST00000436292.1	37																																																																																					0.643	ZNF683-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000009794.2		NM_173574	
