#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
ADAMTS18	170692	broad.mit.edu;hgsc.bcm.edu	37	16	77387747	77387747	+	Silent	SNP	C	C	T	rs372413157		TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr16:77387747C>T	ENST00000282849.5	-	10	1915	c.1497G>A	c.(1495-1497)aaG>aaA	p.K499K		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	499	Disintegrin.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.K499K(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GTCCTGCTTGCTTGGGCTCAT	0.423																																																	1	Substitution - coding silent(1)	kidney(1)						C		1,4395	2.1+/-5.4	0,1,2197	312.0	283.0	292.0		1497	3.2	1.0	16		292	0,8600		0,0,4300	no	coding-synonymous	ADAMTS18	NM_199355.2		0,1,6497	TT,TC,CC		0.0,0.0227,0.0077		499/1222	77387747	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	170692			AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.1497G>A	16.37:g.77387747C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q6P4R5|Q6ZWJ9	Silent	SNP	ENST00000282849.5	37	CCDS10926.1																																																																																				0.423	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			
ADH4	127	hgsc.bcm.edu;ucsc.edu	37	4	100047771	100047771	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr4:100047771delT	ENST00000265512.7	-	8	1166	c.1092delA	c.(1090-1092)gcafs	p.A364fs	ADH4_ENST00000505590.1_Frame_Shift_Del_p.A383fs|ADH4_ENST00000508393.1_Frame_Shift_Del_p.A383fs|ADH4_ENST00000423445.1_Frame_Shift_Del_p.A383fs|RP11-696N14.1_ENST00000500358.2_RNA	NM_000670.3	NP_000661.2	P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	364					alcohol catabolic process (GO:0046164)|alcohol metabolic process (GO:0006066)|cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|quinone metabolic process (GO:1901661)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|all-trans retinal binding (GO:0005503)|benzaldehyde dehydrogenase activity (GO:0019115)|ethanol binding (GO:0035276)|NAD binding (GO:0051287)|NADPH:quinone reductase activity (GO:0003960)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)		TTAGGTCAAATGCCTCACTGA	0.343																																																	0													146.0	143.0	144.0					4																	100047771		2203	4300	6503	SO:0001589	frameshift_variant	127			M15943	CCDS34032.1	4q22	2008-02-05				ENSG00000198099	1.1.1.1	"""Alcohol dehydrogenases"""	252	protein-coding gene	gene with protein product		103740					Standard	NM_000670		Approved	ADH-2	uc003hun.3	P08319		ENST00000265512.7:c.1092delA	4.37:g.100047771delT	ENSP00000265512:p.Ala364fs	Somatic		WXS	Illumina HiSeq	Phase_I	A8K470|B4DIE7|C9J4A9|Q8TCD7	Frame_Shift_Del	DEL	ENST00000265512.7	37	CCDS34032.1																																																																																				0.343	ADH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364220.2		NM_000670	
AK8	158067	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	135602886	135602886	+	Missense_Mutation	SNP	A	A	T	rs570204054		TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr9:135602886A>T	ENST00000298545.3	-	12	1678	c.1157T>A	c.(1156-1158)aTg>aAg	p.M386K	AK8_ENST00000477396.1_5'UTR	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	386	Adenylate kinase 2.				nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)	p.M386K(2)		NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						CAGCCGCTCCATGATGGAATC	0.448																																																	2	Substitution - Missense(2)	kidney(2)											96.0	93.0	94.0					9																	135602886		2203	4300	6503	SO:0001583	missense	158067			AK093446	CCDS6954.1	9q34.13	2013-04-29	2010-12-07	2010-12-07	ENSG00000165695	ENSG00000165695	2.7.4.3	"""Adenylate kinases"""	26526	protein-coding gene	gene with protein product		615365	"""chromosome 9 open reading frame 98"""	C9orf98		21080915	Standard	NM_152572		Approved	FLJ32704	uc004cbu.1	Q96MA6	OTTHUMG00000021009	ENST00000298545.3:c.1157T>A	9.37:g.135602886A>T	ENSP00000298545:p.Met386Lys	Somatic		WXS	Illumina HiSeq	Phase_I	A8K821|Q8N9W9	Missense_Mutation	SNP	ENST00000298545.3	37	CCDS6954.1	.	.	.	.	.	.	.	.	.	.	A	7.331	0.618855	0.14129	.	.	ENSG00000165695	ENST00000298545	T	0.75821	-0.97	4.85	2.51	0.30379	.	0.910316	0.09442	N	0.801634	T	0.57932	0.2087	N	0.21282	0.65	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.50566	-0.8813	10	0.66056	D	0.02	-0.628	3.6542	0.08214	0.7051:0.0:0.1022:0.1927	.	386	Q96MA6	KAD8_HUMAN	K	386	ENSP00000298545:M386K	ENSP00000298545:M386K	M	-	2	0	AK8	134592707	0.729000	0.28090	0.004000	0.12327	0.425000	0.31504	2.404000	0.44539	0.697000	0.31718	-0.549000	0.04216	ATG		0.448	AK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055413.1		NM_152572	
ATM	472	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	108170468	108170468	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr11:108170468T>G	ENST00000452508.2	+	35	5222	c.5033T>G	c.(5032-5034)gTg>gGg	p.V1678G	ATM_ENST00000278616.4_Missense_Mutation_p.V1678G			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1678					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.V1678G(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TTGGGAGAAGTGGGTCCTATA	0.353			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	2	Substitution - Missense(2)	kidney(2)											118.0	125.0	123.0					11																	108170468		2201	4298	6499	SO:0001583	missense	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.5033T>G	11.37:g.108170468T>G	ENSP00000388058:p.Val1678Gly	Somatic		WXS	Illumina HiSeq	Phase_I	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	T	18.71	3.682179	0.68042	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.71222	-0.55;-0.55	5.47	5.47	0.80525	Armadillo-type fold (1);	0.598723	0.17457	N	0.173564	T	0.68760	0.3036	L	0.47716	1.5	0.49687	D	0.999813	P	0.39131	0.661	B	0.40565	0.333	T	0.72357	-0.4318	10	0.87932	D	0	.	15.5639	0.76273	0.0:0.0:0.0:1.0	.	1678	Q13315	ATM_HUMAN	G	1678	ENSP00000278616:V1678G;ENSP00000388058:V1678G	ENSP00000278616:V1678G	V	+	2	0	ATM	107675678	1.000000	0.71417	0.912000	0.35992	0.997000	0.91878	7.314000	0.78988	2.072000	0.62099	0.528000	0.53228	GTG		0.353	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1		NM_000051	
BAG6	7917	hgsc.bcm.edu	37	6	31609641	31609642	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr6:31609641_31609642insG	ENST00000375964.6	-	16	2639_2640	c.2326_2327insC	c.(2326-2328)cagfs	p.Q776fs	BAG6_ENST00000211379.5_Frame_Shift_Ins_p.Q770fs|BAG6_ENST00000439687.2_Frame_Shift_Ins_p.Q644fs|BAG6_ENST00000362049.6_Frame_Shift_Ins_p.Q770fs|BAG6_ENST00000470875.1_5'UTR|BAG6_ENST00000404765.2_Frame_Shift_Ins_p.Q806fs|BAG6_ENST00000375976.4_Frame_Shift_Ins_p.Q770fs	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	776					brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						TTGTAGTGGCTGGAAATGCCCA	0.559																																																	0																																										SO:0001589	frameshift_variant	7917			M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"""HLA-B associated transcript 3"""	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.2327dupC	6.37:g.31609643_31609643dupG	ENSP00000365131:p.Gln776fs	Somatic		WXS	Illumina HiSeq	Phase_I	A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Frame_Shift_Ins	INS	ENST00000375964.6	37	CCDS47403.1																																																																																				0.559	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_080703	
BARD1	580	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	215657073	215657073	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr2:215657073C>G	ENST00000260947.4	-	3	446	c.312G>C	c.(310-312)atG>atC	p.M104I	BARD1_ENST00000449967.2_Intron|BARD1_ENST00000471787.1_Intron	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	104	Interaction with BRCA1.				cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.M104I(2)		NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AAAGTTGAATCATGCTGTCCA	0.383									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																																								2	Substitution - Missense(2)	kidney(2)											154.0	150.0	152.0					2																	215657073		2203	4300	6503	SO:0001583	missense	580	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"""Ankyrin repeat domain containing"""	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.312G>C	2.37:g.215657073C>G	ENSP00000260947:p.Met104Ile	Somatic		WXS	Illumina HiSeq	Phase_I	F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Missense_Mutation	SNP	ENST00000260947.4	37	CCDS2397.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.590082	0.46214	.	.	ENSG00000138376	ENST00000260947	T	0.70045	-0.45	5.29	5.29	0.74685	Zinc finger, RING/FYVE/PHD-type (1);	0.041876	0.85682	D	0.000000	T	0.47710	0.1460	N	0.17248	0.465	0.80722	D	1	P	0.42692	0.787	B	0.33121	0.158	T	0.53129	-0.8482	10	0.38643	T	0.18	-24.1431	15.649	0.77076	0.0:0.8626:0.1374:0.0	.	104	Q99728	BARD1_HUMAN	I	104	ENSP00000260947:M104I	ENSP00000260947:M104I	M	-	3	0	BARD1	215365318	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	3.438000	0.52871	2.633000	0.89246	0.557000	0.71058	ATG		0.383	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256602.1		NM_000465	
CACNA1F	778	broad.mit.edu;hgsc.bcm.edu	37	X	49066823	49066823	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chrX:49066823G>A	ENST00000376265.2	-	39	4620	c.4559C>T	c.(4558-4560)aCg>aTg	p.T1520M	CACNA1F_ENST00000376251.1_Missense_Mutation_p.T1455M|CACNA1F_ENST00000323022.5_Missense_Mutation_p.T1509M	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1520					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.T1520M(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GAATGTCACCGTCCCATCTGA	0.537																																																	1	Substitution - Missense(1)	kidney(1)											144.0	112.0	123.0					X																	49066823		2203	4300	6503	SO:0001583	missense	778			AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.4559C>T	X.37:g.49066823G>A	ENSP00000365441:p.Thr1520Met	Somatic		WXS	Illumina HiSeq	Phase_I	A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.879200	0.91740	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.90676	-2.71;-2.71;-2.71	5.6	5.6	0.85130	.	0.098392	0.64402	D	0.000002	D	0.95799	0.8633	M	0.84948	2.725	0.58432	D	0.999998	D;D	0.89917	1.0;0.991	D;P	0.91635	0.999;0.893	D	0.96279	0.9205	10	0.72032	D	0.01	.	17.253	0.87047	0.0:0.0:1.0:0.0	.	1509;1520	F5CIQ9;O60840	.;CAC1F_HUMAN	M	1455;1509;1520	ENSP00000365427:T1455M;ENSP00000321618:T1509M;ENSP00000365441:T1520M	ENSP00000321618:T1509M	T	-	2	0	CACNA1F	48953767	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	6.663000	0.74431	2.341000	0.79615	0.600000	0.82982	ACG		0.537	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1		NM_005183	
TRMT13	54482	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	100606486	100606486	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr1:100606486G>A	ENST00000370141.2	+	7	586	c.580G>A	c.(580-582)Gga>Aga	p.G194R		NM_019083.2	NP_061956.2	Q9NUP7	TRM13_HUMAN	tRNA methyltransferase 13 homolog (S. cerevisiae)	194					tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.G194R(1)									AGCGGGAAAGGGAAAATTATC	0.358																																																	1	Substitution - Missense(1)	kidney(1)											132.0	127.0	129.0					1																	100606486		2203	4300	6503	SO:0001583	missense	0			BC075811	CCDS765.1	1p21.2	2012-06-07	2012-06-07	2012-06-07	ENSG00000122435	ENSG00000122435			25502	protein-coding gene	gene with protein product			"""coiled-coil domain containing 76"""	CCDC76		11799066	Standard	NM_019083		Approved	FLJ10287, FLJ11219	uc001dsv.3	Q9NUP7	OTTHUMG00000010841	ENST00000370141.2:c.580G>A	1.37:g.100606486G>A	ENSP00000359160:p.Gly194Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q5VVL0|Q9NW65	Missense_Mutation	SNP	ENST00000370141.2	37	CCDS765.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.737802	0.89573	.	.	ENSG00000122435	ENST00000370141	T	0.62105	0.05	5.62	5.62	0.85841	Methyltransferase TRM13 (1);	0.047815	0.85682	D	0.000000	T	0.80215	0.4582	M	0.87456	2.885	0.80722	D	1	P;D	0.67145	0.915;0.996	P;D	0.71184	0.77;0.972	T	0.83121	-0.0118	10	0.87932	D	0	-19.352	19.6541	0.95830	0.0:0.0:1.0:0.0	.	180;194	B4DQS9;Q9NUP7	.;TRM13_HUMAN	R	194	ENSP00000359160:G194R	ENSP00000359160:G194R	G	+	1	0	CCDC76	100379074	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.756000	0.91651	2.638000	0.89438	0.563000	0.77884	GGA		0.358	TRMT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029919.1		NM_019083	
KDM4D	55693	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	94704596	94704596	+	5'Flank	SNP	A	A	C			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr11:94704596A>C	ENST00000335080.5	+	0	0				CWC15_ENST00000279839.6_Missense_Mutation_p.L63V|CWC15_ENST00000545018.1_5'UTR|KDM4D_ENST00000536741.1_5'Flank	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D						chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CTTTCTTCCAACTCTCTCCTG	0.428																																																	0													60.0	56.0	57.0					11																	94704596		1847	4097	5944	SO:0001631	upstream_gene_variant	51503			AK001113	CCDS8302.1	11q21	2012-03-28	2009-04-06	2009-04-06	ENSG00000186280	ENSG00000186280		"""Chromatin-modifying enzymes / K-demethylases"""	25498	protein-coding gene	gene with protein product		609766	"""jumonji domain containing 2D"""	JMJD2D		15138608	Standard	NM_018039		Approved	FLJ10251	uc001pfe.3	Q6B0I6	OTTHUMG00000167838		11.37:g.94704596A>C	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_I	B3KPC4|Q0VF39|Q9NT41|Q9NW76	Missense_Mutation	SNP	ENST00000335080.5	37	CCDS8302.1																																																																																				0.428	KDM4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396558.2		NM_018039	
DNMT3B	1789	hgsc.bcm.edu	37	20	31384616	31384617	+	Frame_Shift_Ins	INS	-	-	G	rs150851562		TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr20:31384616_31384617insG	ENST00000328111.2	+	13	1639_1640	c.1318_1319insG	c.(1318-1320)aggfs	p.R440fs	DNMT3B_ENST00000353855.2_Frame_Shift_Ins_p.R420fs|DNMT3B_ENST00000201963.3_Frame_Shift_Ins_p.R432fs|DNMT3B_ENST00000456297.2_Frame_Shift_Ins_p.R344fs|DNMT3B_ENST00000348286.2_Frame_Shift_Ins_p.R420fs|DNMT3B_ENST00000375623.4_Splice_Site|DNMT3B_ENST00000443239.3_Frame_Shift_Ins_p.R378fs|DNMT3B_ENST00000344505.4_Frame_Shift_Ins_p.R420fs	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	440	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTCTTGTGGCAGGAAAAACCCC	0.559																																																	0																																										SO:0001589	frameshift_variant	1789				CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.1320dupG	20.37:g.31384618_31384618dupG	ENSP00000328547:p.Arg440fs	Somatic		WXS	Illumina HiSeq	Phase_I	A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Frame_Shift_Ins	INS	ENST00000328111.2	37	CCDS13205.1																																																																																				0.559	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2		NM_006892	
DSCAM	1826	hgsc.bcm.edu;ucsc.edu	37	21	41414412	41414412	+	Silent	SNP	G	G	A			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr21:41414412G>A	ENST00000400454.1	-	32	6049	c.5572C>T	c.(5572-5574)Ctg>Ttg	p.L1858L		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1858					cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTGGAGGTCAGACTGTCCGTG	0.527																																					Melanoma(134;970 1778 1785 21664 32388)												0													177.0	171.0	173.0					21																	41414412		2107	4221	6328	SO:0001819	synonymous_variant	1826			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.5572C>T	21.37:g.41414412G>A		Somatic		WXS	Illumina HiSeq	Phase_I	O60468	Silent	SNP	ENST00000400454.1	37	CCDS42929.1																																																																																				0.527	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1		NM_001389	
DYM	54808	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	46906085	46906085	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr18:46906085C>G	ENST00000269445.6	-	4	694	c.237G>C	c.(235-237)aaG>aaC	p.K79N	DYM_ENST00000442713.2_Intron|DYM_ENST00000578396.1_5'Flank	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	79					bone development (GO:0060348)|Golgi organization (GO:0007030)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	enzyme binding (GO:0019899)	p.K79N(1)		NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						AAAGGAAGACCTTAATTAGTG	0.313																																																	1	Substitution - Missense(1)	kidney(1)											124.0	127.0	126.0					18																	46906085		2203	4300	6503	SO:0001583	missense	54808			AK000078	CCDS11937.1	18q21.1	2008-03-12			ENSG00000141627	ENSG00000141627			21317	protein-coding gene	gene with protein product		607461					Standard	NM_017653		Approved	FLJ20071, DMC, SMC	uc002ldi.1	Q7RTS9	OTTHUMG00000132659	ENST00000269445.6:c.237G>C	18.37:g.46906085C>G	ENSP00000269445:p.Lys79Asn	Somatic		WXS	Illumina HiSeq	Phase_I	A8K5I8|B2RCF9|B4DKI7|Q3ZTS8|Q6P2P5|Q8N2M0|Q9BVE9|Q9NPU7	Missense_Mutation	SNP	ENST00000269445.6	37	CCDS11937.1	.	.	.	.	.	.	.	.	.	.	C	10.93	1.489820	0.26686	.	.	ENSG00000141627	ENST00000269445	D	0.83250	-1.7	5.28	2.49	0.30216	.	0.101317	0.64402	D	0.000002	T	0.68146	0.2969	L	0.31664	0.95	0.80722	D	1	B	0.18461	0.028	B	0.17722	0.019	T	0.53472	-0.8434	10	0.23891	T	0.37	-20.2542	4.4175	0.11463	0.0:0.4752:0.1593:0.3654	.	79	Q7RTS9	DYM_HUMAN	N	79	ENSP00000269445:K79N	ENSP00000269445:K79N	K	-	3	2	DYM	45160083	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.838000	0.27572	0.303000	0.22785	0.650000	0.86243	AAG		0.313	DYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255912.3		NM_017653	
F5	2153	broad.mit.edu;hgsc.bcm.edu	37	1	169510307	169510307	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr1:169510307G>C	ENST00000367797.3	-	13	4222	c.4021C>G	c.(4021-4023)Cca>Gca	p.P1341A	F5_ENST00000367796.3_Missense_Mutation_p.P1346A	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1341	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)	p.P1341A(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	CTGAGTTCTGGAGAGAGGTTT	0.527																																																	1	Substitution - Missense(1)	kidney(1)											203.0	226.0	218.0					1																	169510307		2203	4300	6503	SO:0001583	missense	2153			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.4021C>G	1.37:g.169510307G>C	ENSP00000356771:p.Pro1341Ala	Somatic		WXS	Illumina HiSeq	Phase_I	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	N	10.75	1.439214	0.25900	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.37915	1.17;1.17	4.62	0.745	0.18359	.	0.905593	0.09702	N	0.766888	T	0.12220	0.0297	L	0.57536	1.79	0.25062	N	0.991058	B	0.20261	0.043	B	0.22601	0.04	T	0.28870	-1.0030	9	0.15952	T	0.53	-1.2883	5.4494	0.16554	0.2159:0.0:0.6353:0.1489	.	1341	P12259	FA5_HUMAN	A	1341;1346	ENSP00000356771:P1341A;ENSP00000356770:P1346A	ENSP00000356770:P1346A	P	-	1	0	F5	167776931	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	0.395000	0.20850	0.041000	0.15688	-0.500000	0.04577	CCA		0.527	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1		NM_000130	
FOXQ1	94234	hgsc.bcm.edu;ucsc.edu	37	6	1313357	1313357	+	Silent	SNP	T	T	C			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr6:1313357T>C	ENST00000296839.2	+	1	683	c.418T>C	c.(418-420)Ttg>Ctg	p.L140L		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	140					hair follicle morphogenesis (GO:0031069)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		GGGCGGGCGCTTGACGCTGGC	0.657																																																	0													25.0	27.0	27.0					6																	1313357		2181	4261	6442	SO:0001819	synonymous_variant	94234			AF153341	CCDS4471.1	6p25	2008-02-05			ENSG00000164379	ENSG00000164379		"""Forkhead boxes"""	20951	protein-coding gene	gene with protein product		612788				11747606, 12011061	Standard	NM_033260		Approved	HFH1	uc003mtl.4	Q9C009	OTTHUMG00000016160	ENST00000296839.2:c.418T>C	6.37:g.1313357T>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q9NS06	Silent	SNP	ENST00000296839.2	37	CCDS4471.1																																																																																				0.657	FOXQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043410.1		NM_033260	
FSCB	84075	broad.mit.edu;hgsc.bcm.edu	37	14	44973940	44973940	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr14:44973940C>G	ENST00000340446.4	-	1	2542	c.2251G>C	c.(2251-2253)Gct>Cct	p.A751P	RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	751						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)	p.A751P(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TCTACCAGAGCCTCATCTTCA	0.468																																																	1	Substitution - Missense(1)	kidney(1)											60.0	64.0	62.0					14																	44973940		2203	4300	6503	SO:0001583	missense	84075			AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.2251G>C	14.37:g.44973940C>G	ENSP00000344579:p.Ala751Pro	Somatic		WXS	Illumina HiSeq	Phase_I	Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.081901	0.55861	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.14893	2.47	4.49	2.33	0.28932	.	.	.	.	.	T	0.11836	0.0288	L	0.29908	0.895	0.09310	N	1	B	0.20052	0.041	B	0.23150	0.044	T	0.31110	-0.9955	9	0.33940	T	0.23	1.0258	6.2166	0.20658	0.0:0.6885:0.1769:0.1346	.	751	Q5H9T9	FSCB_HUMAN	P	751;644	ENSP00000344579:A751P	ENSP00000344579:A751P	A	-	1	0	FSCB	44043690	0.000000	0.05858	0.007000	0.13788	0.346000	0.29079	-0.338000	0.07842	0.448000	0.26722	0.305000	0.20034	GCT		0.468	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1		NM_032135	
GAB1	2549	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	144336751	144336751	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr4:144336751G>T	ENST00000262994.4	+	2	496	c.194G>T	c.(193-195)tGt>tTt	p.C65F	GAB1_ENST00000262995.4_Missense_Mutation_p.C65F|GAB1_ENST00000505913.1_5'UTR	NM_002039.3	NP_002030.2	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	65	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of JUN kinase activity (GO:0007257)|cell proliferation (GO:0008283)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-6-mediated signaling pathway (GO:0070102)|labyrinthine layer development (GO:0060711)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|regulation of cell migration (GO:0030334)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)	p.C65F(1)		breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					TTAAATTTATGTCAACAAGTA	0.338																																																	1	Substitution - Missense(1)	kidney(1)											92.0	87.0	89.0					4																	144336751		2203	4300	6503	SO:0001583	missense	2549			U43885	CCDS3759.1, CCDS3760.1	4q31.1	2013-01-10			ENSG00000109458	ENSG00000109458		"""Pleckstrin homology (PH) domain containing"""	4066	protein-coding gene	gene with protein product		604439				8596638	Standard	NM_207123		Approved		uc003ijd.3	Q13480	OTTHUMG00000161432	ENST00000262994.4:c.194G>T	4.37:g.144336751G>T	ENSP00000262994:p.Cys65Phe	Somatic		WXS	Illumina HiSeq	Phase_I	A8K152|Q4W5G2|Q6P1W2	Missense_Mutation	SNP	ENST00000262994.4	37	CCDS3759.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.386683	0.82902	.	.	ENSG00000109458	ENST00000262995;ENST00000262994;ENST00000514639;ENST00000509992	T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15	5.85	5.85	0.93711	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.89047	0.6604	M	0.77820	2.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.89170	0.3536	10	0.72032	D	0.01	-34.8387	20.1731	0.98165	0.0:0.0:1.0:0.0	.	65;65	Q13480;Q13480-2	GAB1_HUMAN;.	F	65;65;65;44	ENSP00000262995:C65F;ENSP00000262994:C65F;ENSP00000427435:C65F;ENSP00000425921:C44F	ENSP00000262994:C65F	C	+	2	0	GAB1	144556201	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.771000	0.98977	2.768000	0.95171	0.655000	0.94253	TGT		0.338	GAB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364998.1		NM_002039	
GDF11	10220	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	56142619	56142619	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr12:56142619C>G	ENST00000257868.5	+	2	732	c.695C>G	c.(694-696)tCa>tGa	p.S232*		NM_005811.3	NP_005802.1	O95390	GDF11_HUMAN	growth differentiation factor 11	232					camera-type eye morphogenesis (GO:0048593)|cell maturation (GO:0048469)|growth (GO:0040007)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|palate development (GO:0060021)|pancreas development (GO:0031016)|skeletal system development (GO:0001501)|spinal cord anterior/posterior patterning (GO:0021512)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)|protein complex (GO:0043234)		p.S232*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						CACTCACGCTCAGGCCATTGG	0.597																																																	1	Substitution - Nonsense(1)	kidney(1)											59.0	42.0	48.0					12																	56142619		2203	4300	6503	SO:0001587	stop_gained	10220			AF100907	CCDS8891.1	12q13.13	2008-08-01							4216	protein-coding gene	gene with protein product		603936				15988002	Standard	NM_005811		Approved	BMP-11	uc001shq.3	O95390		ENST00000257868.5:c.695C>G	12.37:g.56142619C>G	ENSP00000257868:p.Ser232*	Somatic		WXS	Illumina HiSeq	Phase_I	Q9UID1|Q9UID2	Nonsense_Mutation	SNP	ENST00000257868.5	37	CCDS8891.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.3|22.3	4.271658|4.271658	0.80469|0.80469	.|.	.|.	ENSG00000135414|ENSG00000135414	ENST00000546799|ENST00000257868	.|.	.|.	.|.	4.85|4.85	4.85|4.85	0.62838|0.62838	.|.	.|1.909140	.|0.02571	.|N	.|0.097756	T|.	0.61123|.	0.2322|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.53450|.	-0.8437|.	3|.	.|0.36615	.|T	.|0.2	-11.9282|-11.9282	15.8338|15.8338	0.78782|0.78782	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	E|X	205|232	.|.	.|ENSP00000257868:S232X	Q|S	+|+	1|2	0|0	GDF11|GDF11	54428886|54428886	0.000000|0.000000	0.05858|0.05858	0.998000|0.998000	0.56505|0.56505	0.991000|0.991000	0.79684|0.79684	0.512000|0.512000	0.22755|0.22755	2.427000|2.427000	0.82271|0.82271	0.555000|0.555000	0.69702|0.69702	CAG|TCA		0.597	GDF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407842.3			
GPM6A	2823	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	176622807	176622807	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr4:176622807G>A	ENST00000280187.7	-	3	194	c.149C>T	c.(148-150)gCg>gTg	p.A50V	GPM6A_ENST00000506894.1_Missense_Mutation_p.A39V|GPM6A_ENST00000515090.1_Missense_Mutation_p.A43V|GPM6A_ENST00000393658.2_Missense_Mutation_p.A50V	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	50					neural retina development (GO:0003407)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|positive regulation of filopodium assembly (GO:0051491)|stem cell differentiation (GO:0048863)|synapse assembly (GO:0007416)	axonal growth cone (GO:0044295)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium channel activity (GO:0005262)	p.A50V(3)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		TCCAGAAAGCGCTTCATGACC	0.488																																																	3	Substitution - Missense(3)	kidney(2)|prostate(1)											154.0	144.0	148.0					4																	176622807		2203	4300	6503	SO:0001583	missense	2823				CCDS3824.1, CCDS54822.1, CCDS58936.1	4q34	2008-08-29				ENSG00000150625			4460	protein-coding gene	gene with protein product		601275		GPM6		8661015, 18574501	Standard	NM_005277		Approved		uc003iug.4	P51674		ENST00000280187.7:c.149C>T	4.37:g.176622807G>A	ENSP00000280187:p.Ala50Val	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z642|E9PHI5|Q92602	Missense_Mutation	SNP	ENST00000280187.7	37	CCDS3824.1	.	.	.	.	.	.	.	.	.	.	G	36	5.598683	0.96614	.	.	ENSG00000150625	ENST00000280187;ENST00000393658;ENST00000506894;ENST00000515090;ENST00000503397;ENST00000513365;ENST00000505304	D;D;D;D;D;D;D	0.99548	-6.14;-6.14;-6.14;-6.14;-6.14;-6.14;-6.14	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	D	0.99635	0.9866	M	0.80616	2.505	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.996	D	0.98505	1.0616	10	0.87932	D	0	-0.21	20.5211	0.99222	0.0:0.0:1.0:0.0	.	43;39;50	B7Z642;E9PHI5;P51674	.;.;GPM6A_HUMAN	V	50;50;39;43;42;50;43	ENSP00000280187:A50V;ENSP00000377268:A50V;ENSP00000421578:A39V;ENSP00000423984:A43V;ENSP00000422959:A42V;ENSP00000423122:A50V;ENSP00000425463:A43V	ENSP00000280187:A50V	A	-	2	0	GPM6A	176859801	1.000000	0.71417	0.970000	0.41538	0.897000	0.52465	9.476000	0.97823	2.861000	0.98227	0.650000	0.86243	GCG		0.488	GPM6A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362163.1			
ITGA11	22801	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	68642956	68642956	+	Splice_Site	SNP	T	T	A	rs367691033		TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr15:68642956T>A	ENST00000315757.7	-	9	1145	c.1059A>T	c.(1057-1059)gaA>gaT	p.E353D	ITGA11_ENST00000423218.2_Splice_Site_p.E353D|ITGA11_ENST00000562826.1_5'Flank	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	353					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)	p.E353D(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						ATTGCTTACCTTCCAGGCTGA	0.502																																																	1	Substitution - Missense(1)	kidney(1)											111.0	109.0	110.0					15																	68642956		1986	4168	6154	SO:0001630	splice_region_variant	22801			AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"""Integrins"""	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.1060+1A>T	15.37:g.68642956T>A		Somatic		WXS	Illumina HiSeq	Phase_I	J3KQM2|Q8WYI8|Q9UKQ1	Missense_Mutation	SNP	ENST00000315757.7	37	CCDS45291.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.292762	0.80914	.	.	ENSG00000137809	ENST00000315757;ENST00000423218;ENST00000537153	T;T	0.72615	-0.67;-0.67	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	D	0.85813	0.5784	M	0.91038	3.17	0.48511	D	0.999663	B;D	0.58620	0.066;0.983	B;D	0.64687	0.039;0.928	D	0.87986	0.2746	10	0.48119	T	0.1	.	14.2165	0.65797	0.0:0.0:0.0:1.0	.	353;353	A8K8T0;Q9UKX5	.;ITA11_HUMAN	D	353	ENSP00000327290:E353D;ENSP00000403392:E353D	ENSP00000327290:E353D	E	-	3	2	ITGA11	66430010	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	3.848000	0.55903	1.960000	0.56953	0.448000	0.29417	GAA		0.502	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding			NM_012211	Missense_Mutation
KDM7A	80853	hgsc.bcm.edu;ucsc.edu	37	7	139798703	139798703	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr7:139798703delC	ENST00000397560.2	-	14	1991	c.1894delG	c.(1894-1896)gaafs	p.E633fs	JHDM1D_ENST00000006967.5_Frame_Shift_Del_p.E633fs	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		633					histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|midbrain development (GO:0030901)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					TGAGATTCTTCATGTTCCACT	0.299																																																	0													176.0	161.0	166.0					7																	139798703		1833	4080	5913	SO:0001589	frameshift_variant	80853																														ENST00000397560.2:c.1894delG	7.37:g.139798703delC	ENSP00000380692:p.Glu633fs	Somatic		WXS	Illumina HiSeq	Phase_I	A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Frame_Shift_Del	DEL	ENST00000397560.2	37	CCDS43658.1																																																																																				0.299	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348460.1			
KRT73	319101	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	53012201	53012201	+	Silent	SNP	G	G	T			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr12:53012201G>T	ENST00000305748.3	-	1	142	c.108C>A	c.(106-108)ggC>ggA	p.G36G		NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	36	Gly-rich.|Head.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.G36G(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGAGCCCTTTGCCCCCTGCTC	0.642																																																	1	Substitution - coding silent(1)	kidney(1)											51.0	59.0	56.0					12																	53012201		2203	4300	6503	SO:0001819	synonymous_variant	319101			AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.108C>A	12.37:g.53012201G>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q32MB2	Silent	SNP	ENST00000305748.3	37	CCDS8834.1																																																																																				0.642	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1		NM_175068	
MOSPD3	64598	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	100211278	100211278	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr7:100211278C>A	ENST00000393950.2	+	3	742	c.460C>A	c.(460-462)Cca>Aca	p.P154T	MOSPD3_ENST00000424091.2_Missense_Mutation_p.P144T|MOSPD3_ENST00000379527.2_Missense_Mutation_p.P154T|MOSPD3_ENST00000223054.4_Missense_Mutation_p.P154T	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	154					heart development (GO:0007507)	integral component of membrane (GO:0016021)	structural molecule activity (GO:0005198)	p.P154S(1)|p.P154T(1)		breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					AGCGCCTCGCCCAGGGCCTCC	0.622																																																	2	Substitution - Missense(2)	lung(1)|kidney(1)											46.0	46.0	46.0					7																	100211278		2203	4300	6503	SO:0001583	missense	64598			BC011653	CCDS5701.1, CCDS47662.1	7q22	2009-11-06			ENSG00000106330	ENSG00000106330			25078	protein-coding gene	gene with protein product		609125				15533722	Standard	XM_005250531		Approved	CDS3, NET30	uc003uvs.3	O75425	OTTHUMG00000159599	ENST00000393950.2:c.460C>A	7.37:g.100211278C>A	ENSP00000377522:p.Pro154Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A4D2D1|A6NG17|C9JE89|D6W5W1|O75423|O75424	Missense_Mutation	SNP	ENST00000393950.2	37	CCDS5701.1	.	.	.	.	.	.	.	.	.	.	C	5.081	0.200530	0.09652	.	.	ENSG00000106330	ENST00000223054;ENST00000493970;ENST00000379527;ENST00000393950;ENST00000424091;ENST00000393953	.	.	.	4.12	3.23	0.37069	.	0.548559	0.16396	N	0.216239	T	0.39963	0.1098	N	0.22421	0.69	0.38133	D	0.938229	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.24728	-1.0152	9	0.14656	T	0.56	0.0097	11.5482	0.50706	0.1804:0.8196:0.0:0.0	.	144;154	C9JE89;O75425	.;MSPD3_HUMAN	T	154;154;154;154;144;140	.	ENSP00000223054:P154T	P	+	1	0	MOSPD3	100049214	0.736000	0.28164	0.856000	0.33681	0.625000	0.37756	2.246000	0.43142	1.313000	0.45069	0.563000	0.77884	CCA		0.622	MOSPD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356395.1		NM_023948	
NBPF3	84224	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	21795329	21795329	+	Silent	SNP	C	C	G			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	C	C	C	G	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr1:21795329C>G	ENST00000318249.5	+	3	632	c.282C>G	c.(280-282)ctC>ctG	p.L94L	NBPF3_ENST00000454000.2_Intron|NBPF3_ENST00000342104.5_Silent_p.L94L|NBPF3_ENST00000318220.6_Silent_p.L38L	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	94						cytoplasm (GO:0005737)		p.L94L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCAGAAACCTCAAACAGAAAT	0.473											OREG0013205	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - coding silent(1)	kidney(1)											82.0	92.0	89.0					1																	21795329		2203	4300	6503	SO:0001819	synonymous_variant	84224			BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"""neuroblastoma breakpoint family"""	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.282C>G	1.37:g.21795329C>G		Somatic	751	WXS	Illumina HiSeq	Phase_I	A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Silent	SNP	ENST00000318249.5	37	CCDS216.1																																																																																				0.473	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_032264	
NLRP8	126205	broad.mit.edu;hgsc.bcm.edu	37	19	56459316	56459316	+	Silent	SNP	C	C	T			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr19:56459316C>T	ENST00000291971.3	+	1	119	c.48C>T	c.(46-48)tcC>tcT	p.S16S	NLRP8_ENST00000590542.1_Silent_p.S16S	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	16					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.S16S(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CCTTTTCATCCTCCTCCACTC	0.512																																																	1	Substitution - coding silent(1)	kidney(1)											248.0	196.0	213.0					19																	56459316		2203	4300	6503	SO:0001819	synonymous_variant	126205			AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.48C>T	19.37:g.56459316C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q7RTR4	Silent	SNP	ENST00000291971.3	37	CCDS12937.1																																																																																				0.512	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1		NM_176811	
NNT	23530	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	43619222	43619222	+	Splice_Site	SNP	G	G	A			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr5:43619222G>A	ENST00000264663.5	+	5	908		c.e5+1		NNT_ENST00000344920.4_Splice_Site|NNT_ENST00000512996.2_Splice_Site	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase						cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)	p.?(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					TCCAGCTAAGGTAGGTACAAC	0.299																																																	1	Unknown(1)	kidney(1)											54.0	55.0	55.0					5																	43619222		2203	4300	6503	SO:0001630	splice_region_variant	23530			U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.687+1G>A	5.37:g.43619222G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q16796|Q2TB60|Q8N3V4	Splice_Site	SNP	ENST00000264663.5	37	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.607109	0.87157	.	.	ENSG00000112992	ENST00000264663;ENST00000344920;ENST00000512996	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4772	0.94994	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NNT	43654979	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	9.058000	0.93896	2.602000	0.87976	0.563000	0.77884	.		0.299	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1		NM_182977	Intron
OR2B3	442184	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	29054943	29054943	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr6:29054943A>G	ENST00000377173.2	-	1	147	c.83T>C	c.(82-84)tTt>tCt	p.F28S		NM_001005226.2	NP_001005226.1	O76000	OR2B3_HUMAN	olfactory receptor, family 2, subfamily B, member 3	28						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F28S(1)		breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						CAGGACCACAAAAAGGGGCAT	0.408																																																	1	Substitution - Missense(1)	kidney(1)											112.0	104.0	107.0					6																	29054943		2203	4300	6503	SO:0001583	missense	442184				CCDS34358.1	6p22.2-p21.31	2012-08-09	2008-10-22	2008-10-22	ENSG00000204703	ENSG00000204703		"""GPCR / Class A : Olfactory receptors"""	8238	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily B, member 3 pseudogene"""	OR2B3P			Standard	NM_001005226		Approved	OR6-4	uc003nlx.3	O76000	OTTHUMG00000031226	ENST00000377173.2:c.83T>C	6.37:g.29054943A>G	ENSP00000366378:p.Phe28Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B0UYQ1|Q5ST41|Q96R13	Missense_Mutation	SNP	ENST00000377173.2	37	CCDS34358.1	.	.	.	.	.	.	.	.	.	.	A	8.344	0.829397	0.16749	.	.	ENSG00000204703	ENST00000377173	T	0.04551	3.6	3.9	1.41	0.22369	.	0.360354	0.19841	U	0.104845	T	0.02083	0.0065	M	0.69358	2.11	0.09310	N	1	B	0.12013	0.005	B	0.16289	0.015	T	0.40156	-0.9578	10	0.48119	T	0.1	.	7.8281	0.29326	0.8173:0.0:0.1827:0.0	.	28	O76000	OR2B3_HUMAN	S	28	ENSP00000366378:F28S	ENSP00000366378:F28S	F	-	2	0	OR2B3	29162922	0.005000	0.15991	0.001000	0.08648	0.735000	0.41995	2.000000	0.40816	-0.009000	0.14296	-0.396000	0.06452	TTT		0.408	OR2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076469.2			
PLEKHA7	144100	hgsc.bcm.edu	37	11	16876457	16876457	+	Silent	SNP	C	C	T			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr11:16876457C>T	ENST00000355661.3	-	6	511	c.501G>A	c.(499-501)gtG>gtA	p.V167V	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000448080.2_Silent_p.V167V|PLEKHA7_ENST00000531066.1_Silent_p.V167V			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	167	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GCCAGCCCCTCACCACCACGG	0.537																																																	0													94.0	87.0	89.0					11																	16876457		2200	4294	6494	SO:0001819	synonymous_variant	144100			BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"""Pleckstrin homology (PH) domain containing"""	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.501G>A	11.37:g.16876457C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B4DK33|B4DWC3|Q86VZ7	Silent	SNP	ENST00000355661.3	37	CCDS31434.1																																																																																				0.537	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2		NM_175058	
PLEKHO2	80301	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	65157582	65157582	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr15:65157582C>T	ENST00000323544.4	+	6	1096	c.968C>T	c.(967-969)gCc>gTc	p.A323V	AC069368.3_ENST00000437723.1_Intron	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	323	Pro-rich.							p.A323V(1)		NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						AAACTGAAAGCCTCCATGGGT	0.602																																																	1	Substitution - Missense(1)	kidney(1)											48.0	55.0	53.0					15																	65157582		2202	4299	6501	SO:0001583	missense	80301			AF318373	CCDS10196.1, CCDS73739.1	15q22.31	2013-01-10	2007-12-14	2007-12-14	ENSG00000241839	ENSG00000241839		"""Pleckstrin homology (PH) domain containing"""	30026	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family Q member 1"""	PLEKHQ1		12477932	Standard	NM_025201		Approved	DKFZp761K2312, PP1628, pp9099	uc002anv.3	Q8TD55	OTTHUMG00000133050	ENST00000323544.4:c.968C>T	15.37:g.65157582C>T	ENSP00000326706:p.Ala323Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q7L4H4|Q8WYS8	Missense_Mutation	SNP	ENST00000323544.4	37	CCDS10196.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.235504	0.58886	.	.	ENSG00000241839	ENST00000323544	T	0.33654	1.4	5.49	4.51	0.55191	.	0.276731	0.37393	N	0.002107	T	0.45856	0.1363	L	0.32530	0.975	0.31249	N	0.694239	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.941	T	0.43940	-0.9360	10	0.38643	T	0.18	.	12.5612	0.56281	0.1656:0.8344:0.0:0.0	.	273;323	Q8TD55-2;Q8TD55	.;PKHO2_HUMAN	V	323	ENSP00000326706:A323V	ENSP00000326706:A323V	A	+	2	0	PLEKHO2	62944635	0.849000	0.29639	0.982000	0.44146	0.346000	0.29079	1.452000	0.35156	2.565000	0.86533	0.655000	0.94253	GCC		0.602	PLEKHO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256659.1		NM_025201	
PTCD3	55037	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	86359530	86359530	+	Silent	SNP	A	A	G	rs375762783		TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr2:86359530A>G	ENST00000254630.7	+	17	1422	c.1356A>G	c.(1354-1356)caA>caG	p.Q452Q		NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	452					mitochondrial translation (GO:0032543)|regulation of translation (GO:0006417)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)	p.Q452Q(1)		NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						GACCTGATCAACATCGTAATT	0.408																																																	1	Substitution - coding silent(1)	kidney(1)						A		1,4405	2.1+/-5.4	0,1,2202	165.0	159.0	161.0		1356	-4.8	0.0	2		161	0,8600		0,0,4300	no	coding-synonymous	PTCD3	NM_017952.5		0,1,6502	GG,GA,AA		0.0,0.0227,0.0077		452/690	86359530	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55037				CCDS33235.1	2p11.2	2014-02-12	2012-02-24		ENSG00000132300	ENSG00000132300			24717	protein-coding gene	gene with protein product		614918				8889548	Standard	NM_017952		Approved	FLJ20758, DKFZp666K071	uc002sqw.2	Q96EY7	OTTHUMG00000153168	ENST00000254630.7:c.1356A>G	2.37:g.86359530A>G		Somatic		WXS	Illumina HiSeq	Phase_I	A6NHD2|D6W5M1|Q597H0|Q658Y9|Q9BUZ8|Q9NWL0	Silent	SNP	ENST00000254630.7	37	CCDS33235.1																																																																																				0.408	PTCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329854.1		NM_017952	
RAI1	10743	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	17699836	17699836	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr17:17699836A>G	ENST00000353383.1	+	3	4043	c.3574A>G	c.(3574-3576)Agc>Ggc	p.S1192G	RAI1_ENST00000261641.6_Missense_Mutation_p.S1192G	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1192					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)	p.S1192G(1)		breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GGTCTCCAGCAGCCCCCAGAA	0.657																																																	1	Substitution - Missense(1)	kidney(1)											37.0	44.0	42.0					17																	17699836		2203	4300	6503	SO:0001583	missense	10743			AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.3574A>G	17.37:g.17699836A>G	ENSP00000323074:p.Ser1192Gly	Somatic		WXS	Illumina HiSeq	Phase_I	Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	37	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	A	3.452	-0.111872	0.06881	.	.	ENSG00000108557	ENST00000353383;ENST00000395776;ENST00000261641;ENST00000315321	T;T	0.68025	-0.3;0.31	3.92	0.289	0.15723	.	0.693170	0.12970	N	0.424217	T	0.48642	0.1511	L	0.31294	0.92	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.29212	-1.0019	10	0.33141	T	0.24	.	6.5491	0.22423	0.6742:0.0:0.3258:0.0	.	1192	Q7Z5J4	RAI1_HUMAN	G	1192;1192;1192;1144	ENSP00000323074:S1192G;ENSP00000261641:S1192G	ENSP00000261641:S1192G	S	+	1	0	RAI1	17640561	0.888000	0.30383	0.094000	0.20943	0.717000	0.41224	0.969000	0.29370	-0.111000	0.12001	0.402000	0.26972	AGC		0.657	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1		NM_030665	
SLFN12L	100506736	broad.mit.edu;ucsc.edu	37	17	33802445	33802445	+	Missense_Mutation	SNP	G	G	T	rs546879318		TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr17:33802445G>T	ENST00000260908.7	-	4	1381	c.1264C>A	c.(1264-1266)Cat>Aat	p.H422N	SLFN12L_ENST00000449046.1_Missense_Mutation_p.H453N|SLFN12L_ENST00000361112.4_Missense_Mutation_p.H451N|RP11-686D22.9_ENST00000587076.1_RNA	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	422						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)	p.H453N(2)|p.H451N(1)		breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						AGTCCTTCATGTTGTGAGAAC	0.393																																																	3	Substitution - Missense(3)	kidney(3)											59.0	48.0	51.0					17																	33802445		692	1591	2283	SO:0001583	missense	100506736			AK172761	CCDS56026.1	17q12	2011-05-24				ENSG00000205045			33920	protein-coding gene	gene with protein product		614956				9846487	Standard	NM_001195790		Approved		uc021tuy.1	Q6IEE8		ENST00000260908.7:c.1264C>A	17.37:g.33802445G>T	ENSP00000437635:p.His422Asn	Somatic		WXS	Illumina GAIIx	Phase_I	F5H6G3	Missense_Mutation	SNP	ENST00000260908.7	37	CCDS56026.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.479782	0.26511	.	.	ENSG00000205045	ENST00000260908;ENST00000361112;ENST00000449046	T;T;T	0.04758	3.57;3.68;3.56	2.38	1.33	0.21861	.	.	.	.	.	T	0.05135	0.0137	M	0.66939	2.045	0.09310	N	1	P	0.44344	0.833	B	0.32022	0.139	T	0.35051	-0.9804	9	0.44086	T	0.13	.	6.8064	0.23780	0.0:0.2946:0.7054:0.0	.	451	Q6IEE8-2	.	N	422;451;453	ENSP00000437635:H422N;ENSP00000354412:H451N;ENSP00000389348:H453N	ENSP00000437635:H422N	H	-	1	0	SLFN12L	30826558	0.000000	0.05858	0.000000	0.03702	0.073000	0.16967	-0.546000	0.06062	0.291000	0.22468	0.205000	0.17691	CAT		0.393	SLFN12L-004	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395748.2		XM_496206	
SNCA	6622	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	90743427	90743427	+	Silent	SNP	A	A	G			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr4:90743427A>G	ENST00000394986.1	-	4	697	c.276T>C	c.(274-276)acT>acC	p.T92T	SNCA_ENST00000345009.4_Silent_p.T92T|SNCA_ENST00000506244.1_Silent_p.T92T|SNCA_ENST00000420646.2_Silent_p.T92T|SNCA_ENST00000336904.3_Silent_p.T92T|SNCA_ENST00000394991.3_Silent_p.T92T|SNCA_ENST00000394989.2_Silent_p.T78T|SNCA_ENST00000505199.1_Silent_p.T78T|SNCA_ENST00000508895.1_Silent_p.T92T|SNCA_ENST00000502987.1_Silent_p.T92T			P37840	SYUA_HUMAN	synuclein, alpha (non A4 component of amyloid precursor)	92					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|adult locomotory behavior (GO:0008344)|aging (GO:0007568)|behavioral response to cocaine (GO:0048148)|cellular response to copper ion (GO:0071280)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to oxidative stress (GO:0034599)|dopamine biosynthetic process (GO:0042416)|dopamine uptake involved in synaptic transmission (GO:0051583)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|long-term synaptic potentiation (GO:0060291)|microglial cell activation (GO:0001774)|mitochondrial ATP synthesis coupled electron transport (GO:0042775)|mitochondrial membrane organization (GO:0007006)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dopamine metabolic process (GO:0045963)|negative regulation of dopamine uptake involved in synaptic transmission (GO:0051585)|negative regulation of exocytosis (GO:0045920)|negative regulation of histone acetylation (GO:0035067)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of monooxygenase activity (GO:0032769)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of norepinephrine uptake (GO:0051622)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of serotonin uptake (GO:0051612)|negative regulation of thrombin receptor signaling pathway (GO:0070495)|negative regulation of transporter activity (GO:0032410)|neutral lipid metabolic process (GO:0006638)|oxidation-reduction process (GO:0055114)|phospholipid metabolic process (GO:0006644)|positive regulation of endocytosis (GO:0045807)|positive regulation of glutathione peroxidase activity (GO:1903284)|positive regulation of hydrogen peroxide catabolic process (GO:1903285)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|positive regulation of neurotransmitter secretion (GO:0001956)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of receptor recycling (GO:0001921)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein destabilization (GO:0031648)|receptor internalization (GO:0031623)|regulation of acyl-CoA biosynthetic process (GO:0050812)|regulation of dopamine secretion (GO:0014059)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of glutamate secretion (GO:0014048)|regulation of locomotion (GO:0040012)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of macrophage activation (GO:0043030)|regulation of neuron death (GO:1901214)|regulation of phospholipase activity (GO:0010517)|response to drug (GO:0042493)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|response to iron(II) ion (GO:0010040)|response to lipopolysaccharide (GO:0032496)|response to magnesium ion (GO:0032026)|synapse organization (GO:0050808)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular region (GO:0005576)|fibril (GO:0043205)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nuclear outer membrane (GO:0005640)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ribosome (GO:0005840)|rough endoplasmic reticulum (GO:0005791)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	alpha-tubulin binding (GO:0043014)|calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|dynein binding (GO:0045502)|ferrous iron binding (GO:0008198)|histone binding (GO:0042393)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinesin binding (GO:0019894)|magnesium ion binding (GO:0000287)|oxidoreductase activity (GO:0016491)|phospholipid binding (GO:0005543)|phosphoprotein binding (GO:0051219)|tau protein binding (GO:0048156)|zinc ion binding (GO:0008270)	p.T92T(2)		kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.42e-05)		TGACAAAGCCAGTGGCTGCTG	0.498																																																	2	Substitution - coding silent(2)	lung(1)|kidney(1)											199.0	157.0	171.0					4																	90743427		2203	4300	6503	SO:0001819	synonymous_variant	6622			L08850	CCDS3634.1, CCDS43252.1	4q21.3-q22	2014-05-22			ENSG00000145335	ENSG00000145335		"""Parkinson disease"""	11138	protein-coding gene	gene with protein product		163890	"""Parkinson disease (autosomal dominant, Lewy body) 4"""	PARK1, PARK4		8248242, 14593171	Standard	NM_000345		Approved	NACP, PD1, alpha-synuclein	uc003hsr.3	P37840	OTTHUMG00000130948	ENST00000394986.1:c.276T>C	4.37:g.90743427A>G		Somatic		WXS	Illumina HiSeq	Phase_I	A8K2A4|Q13701|Q4JHI3|Q6IAU6	Silent	SNP	ENST00000394986.1	37	CCDS3634.1																																																																																				0.498	SNCA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253547.2			
TADA2A	6871	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	35836946	35836946	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr17:35836946C>A	ENST00000394395.2	+	16	1364	c.1191C>A	c.(1189-1191)taC>taA	p.Y397*	TADA2A_ENST00000225396.6_Nonsense_Mutation_p.Y397*	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	397	SWIRM. {ECO:0000255|PROSITE- ProRule:PRU00247}.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)	p.Y397*(2)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						ATTTAGAATACAAATCTGCTC	0.398																																																	2	Substitution - Nonsense(2)	kidney(2)											139.0	144.0	142.0					17																	35836946		2203	4300	6503	SO:0001587	stop_gained	6871			AK022767	CCDS11319.1, CCDS45656.1	17q12-q21	2014-04-10	2009-10-02	2009-10-02	ENSG00000108264	ENSG00000276234			11531	protein-coding gene	gene with protein product		602276	"""transcriptional adaptor 2 (ADA2 homolog, yeast)-like"""	TADA2L		8552087	Standard	XM_006722043		Approved	ADA2, hADA2, ADA2A	uc002hnt.3	O75478	OTTHUMG00000188469	ENST00000394395.2:c.1191C>A	17.37:g.35836946C>A	ENSP00000377918:p.Tyr397*	Somatic		WXS	Illumina HiSeq	Phase_I	A8MVD0|B3KMU9|Q9BVJ0|Q9UCW2|Q9UP49	Nonsense_Mutation	SNP	ENST00000394395.2	37	CCDS11319.1	.	.	.	.	.	.	.	.	.	.	C	38	6.719013	0.97788	.	.	ENSG00000108264	ENST00000394395;ENST00000428846;ENST00000225396	.	.	.	5.93	2.82	0.32997	.	0.053957	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.3457	10.4462	0.44495	0.0:0.7266:0.0:0.2734	.	.	.	.	X	397;296;397	.	ENSP00000225396:Y397X	Y	+	3	2	TADA2A	32911059	0.995000	0.38212	1.000000	0.80357	0.997000	0.91878	0.461000	0.21940	0.380000	0.24823	0.557000	0.71058	TAC		0.398	TADA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256677.3		NM_001488	
TFAP2C	7022	hgsc.bcm.edu;ucsc.edu	37	20	55208541	55208541	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr20:55208541A>G	ENST00000201031.2	+	4	962	c.719A>G	c.(718-720)tAc>tGc	p.Y240C	TFAP2C_ENST00000544508.1_Missense_Mutation_p.Y71C	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	240					cell-cell signaling (GO:0007267)|cerebral cortex development (GO:0021987)|dichotomous subdivision of terminal units involved in mammary gland duct morphogenesis (GO:0060598)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|forebrain neuron fate commitment (GO:0021877)|germ-line stem cell maintenance (GO:0030718)|hair follicle development (GO:0001942)|keratinocyte development (GO:0003334)|male gonad development (GO:0008584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermis development (GO:0045682)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sebaceous gland development (GO:0048733)|somatic stem cell maintenance (GO:0035019)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			ACGTCTAAATACAAAGTGACA	0.532																																																	0													92.0	77.0	82.0					20																	55208541		2203	4300	6503	SO:0001583	missense	7022				CCDS13454.1	20q13.2	2008-07-17	2001-11-28		ENSG00000087510	ENSG00000087510			11744	protein-coding gene	gene with protein product	"""estrogen receptor factor 1"""	601602	"""transcription factor AP-2 gamma (activating enhancer-binding protein 2 gamma)"""			8661133	Standard	NM_003222		Approved	AP2-GAMMA, ERF1, TFAP2G, hAP-2g	uc002xya.3	Q92754	OTTHUMG00000032805	ENST00000201031.2:c.719A>G	20.37:g.55208541A>G	ENSP00000201031:p.Tyr240Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B4DWK3|O00685|O00730|Q86V30|Q8IVB6|Q9P1X2	Missense_Mutation	SNP	ENST00000201031.2	37	CCDS13454.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.460996	0.84317	.	.	ENSG00000087510	ENST00000201031;ENST00000544508	D;D	0.99080	-5.4;-5.4	5.93	5.93	0.95920	Transcription factor AP-2, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99480	0.9815	M	0.93854	3.465	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98372	1.0554	10	0.87932	D	0	-13.2106	16.3829	0.83481	1.0:0.0:0.0:0.0	.	240	Q92754	AP2C_HUMAN	C	240;71	ENSP00000201031:Y240C;ENSP00000442274:Y71C	ENSP00000201031:Y240C	Y	+	2	0	TFAP2C	54641948	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	9.210000	0.95106	2.271000	0.75665	0.459000	0.35465	TAC		0.532	TFAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079823.2		NM_003222	
TG	7038	broad.mit.edu;hgsc.bcm.edu	37	8	134034366	134034366	+	Missense_Mutation	SNP	G	G	A	rs121912650		TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr8:134034366G>A	ENST00000220616.4	+	40	7047	c.7007G>A	c.(7006-7008)cGa>cAa	p.R2336Q	TG_ENST00000519543.1_Missense_Mutation_p.R469Q|TG_ENST00000542445.1_Missense_Mutation_p.R706Q|TG_ENST00000377869.1_Missense_Mutation_p.R2279Q	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2336			R -> Q (in TDH3). {ECO:0000269|PubMed:16477365}.		hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.R2336Q(2)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GCCAGCTACCGAGTGGGTGTC	0.602																																																	2	Substitution - Missense(2)	ovary(1)|kidney(1)	GRCh37	CM063181	TG	M	rs121912650						154.0	139.0	144.0					8																	134034366		2203	4300	6503	SO:0001583	missense	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.7007G>A	8.37:g.134034366G>A	ENSP00000220616:p.Arg2336Gln	Somatic		WXS	Illumina HiSeq	Phase_I	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	G	36	5.739622	0.96873	.	.	ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543	D;D;D;D	0.90676	-2.71;-2.71;-2.71;-2.71	5.93	5.93	0.95920	Carboxylesterase, type B (1);	0.000000	0.64402	D	0.000002	D	0.97539	0.9194	H	0.99026	4.405	0.51767	A	0.999937	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98698	1.0699	9	0.87932	D	0	.	17.0766	0.86588	0.0:0.0:1.0:0.0	.	469;706;2336	E7EVM0;F5GWW5;P01266	.;.;THYG_HUMAN	Q	2279;1142;2336;706;469	ENSP00000367100:R2279Q;ENSP00000220616:R2336Q;ENSP00000441693:R706Q;ENSP00000430430:R469Q	ENSP00000220616:R2336Q	R	+	2	0	TG	134103548	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	8.497000	0.90488	2.815000	0.96918	0.561000	0.74099	CGA		0.602	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1		NM_003235	
TGM5	9333	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	43552495	43552495	+	Splice_Site	SNP	C	C	T			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr15:43552495C>T	ENST00000220420.5	-	3	198	c.191G>A	c.(190-192)gGa>gAa	p.G64E	TGM5_ENST00000349114.4_Intron	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	64					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.G64E(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	TGGCAGCGGTCCTAGGAGGGA	0.647																																																	1	Substitution - Missense(1)	kidney(1)											36.0	43.0	40.0					15																	43552495		2202	4299	6501	SO:0001630	splice_region_variant	9333			AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"""Transglutaminases"""	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.191-1G>A	15.37:g.43552495C>T		Somatic		WXS	Illumina HiSeq	Phase_I	O43549|Q0VF40|Q9UEZ4	Missense_Mutation	SNP	ENST00000220420.5	37	CCDS32212.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.756131	0.49362	.	.	ENSG00000104055	ENST00000220420;ENST00000396996	D	0.96774	-4.12	4.59	4.59	0.56863	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.058299	0.64402	D	0.000002	D	0.98090	0.9370	M	0.85099	2.735	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98740	1.0716	10	0.87932	D	0	.	15.2791	0.73767	0.0:1.0:0.0:0.0	.	64	O43548	TGM5_HUMAN	E	64;63	ENSP00000220420:G64E	ENSP00000220420:G64E	G	-	2	0	TGM5	41339787	0.998000	0.40836	0.993000	0.49108	0.052000	0.14988	1.601000	0.36773	2.532000	0.85374	0.655000	0.94253	GGA		0.647	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1		NM_004245	Missense_Mutation
TRIM28	10155	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	59057138	59057138	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr19:59057138C>G	ENST00000253024.5	+	3	750	c.461C>G	c.(460-462)aCt>aGt	p.T154S	RN7SL525P_ENST00000579267.1_RNA|TRIM28_ENST00000341753.6_Intron	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	154	RBCC domain.				convergent extension involved in axis elongation (GO:0060028)|DNA repair (GO:0006281)|embryonic placenta morphogenesis (GO:0060669)|epithelial to mesenchymal transition (GO:0001837)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|Krueppel-associated box domain binding (GO:0035851)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T154S(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		CAGTGCTGCACTAGCTGTGAG	0.527																																																	1	Substitution - Missense(1)	kidney(1)											69.0	68.0	68.0					19																	59057138		2203	4299	6502	SO:0001583	missense	10155				CCDS12985.1	19q13.4	2014-06-13	2011-01-25			ENSG00000130726		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	16384	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 157"""	601742	"""tripartite motif-containing 28"""			11331580, 11226167	Standard	NM_005762		Approved	TIF1B, KAP1, TF1B, RNF96, PPP1R157	uc002qtg.1	Q13263		ENST00000253024.5:c.461C>G	19.37:g.59057138C>G	ENSP00000253024:p.Thr154Ser	Somatic		WXS	Illumina HiSeq	Phase_I	O00677|Q7Z632|Q93040|Q96IM1	Missense_Mutation	SNP	ENST00000253024.5	37	CCDS12985.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.890425	0.72524	.	.	ENSG00000130726	ENST00000253024	T	0.40476	1.03	4.89	4.89	0.63831	Zinc finger, B-box (3);	0.000000	0.53938	D	0.000050	T	0.47764	0.1463	N	0.25060	0.705	0.80722	D	1	D	0.65815	0.995	D	0.64321	0.924	T	0.39800	-0.9596	10	0.33940	T	0.23	-23.9901	15.9183	0.79539	0.0:1.0:0.0:0.0	.	154	Q13263	TIF1B_HUMAN	S	154	ENSP00000253024:T154S	ENSP00000253024:T154S	T	+	2	0	TRIM28	63748950	0.998000	0.40836	1.000000	0.80357	0.984000	0.73092	3.652000	0.54439	2.432000	0.82394	0.558000	0.71614	ACT		0.527	TRIM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467074.1		NM_005762	
ZBTB40	9923	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	22816881	22816881	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr1:22816881A>C	ENST00000375647.4	+	2	647	c.440A>C	c.(439-441)gAa>gCa	p.E147A	ZBTB40_ENST00000404138.1_Missense_Mutation_p.E147A|ZBTB40_ENST00000374651.4_Missense_Mutation_p.E147A	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	147					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|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.E147A(1)		endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CCTCAAGTAGAAATCCTTTCA	0.537																																																	1	Substitution - Missense(1)	kidney(1)											113.0	123.0	120.0					1																	22816881		2203	4300	6503	SO:0001583	missense	9923			AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.440A>C	1.37:g.22816881A>C	ENSP00000364798:p.Glu147Ala	Somatic		WXS	Illumina HiSeq	Phase_I	O75066|Q5TFU5|Q8N1R1	Missense_Mutation	SNP	ENST00000375647.4	37	CCDS224.1	.	.	.	.	.	.	.	.	.	.	A	15.60	2.880345	0.51801	.	.	ENSG00000184677	ENST00000404138;ENST00000375647;ENST00000400239;ENST00000374651	T;T;T;T	0.08984	3.03;3.03;3.09;3.03	4.94	4.94	0.65067	.	0.000000	0.53938	D	0.000045	T	0.24699	0.0599	M	0.64997	1.995	0.27489	N	0.952344	D;D	0.71674	0.998;0.996	D;D	0.68765	0.96;0.914	T	0.02263	-1.1186	10	0.87932	D	0	-15.3716	13.7085	0.62654	1.0:0.0:0.0:0.0	.	147;147	F8WAI8;Q9NUA8	.;ZBT40_HUMAN	A	147	ENSP00000384527:E147A;ENSP00000364798:E147A;ENSP00000383098:E147A;ENSP00000363782:E147A	ENSP00000363782:E147A	E	+	2	0	ZBTB40	22689468	0.993000	0.37304	0.126000	0.21872	0.107000	0.19398	1.978000	0.40598	1.978000	0.57642	0.482000	0.46254	GAA		0.537	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1		NM_014870	
ZNF236	7776	hgsc.bcm.edu;ucsc.edu	37	18	74624247	74624247	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr18:74624247delG	ENST00000253159.8	+	17	3045	c.2847delG	c.(2845-2847)cagfs	p.Q949fs	ZNF236_ENST00000320610.9_Frame_Shift_Del_p.Q951fs	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	949					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TGGACCTGCAGGCACAAGGTT	0.473																																																	0													69.0	69.0	69.0					18																	74624247		1937	4145	6082	SO:0001589	frameshift_variant	7776			AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.2847delG	18.37:g.74624247delG	ENSP00000253159:p.Gln949fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2RTX9|Q9UL37	Frame_Shift_Del	DEL	ENST00000253159.8	37	CCDS42447.1																																																																																				0.473	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			
ZNF407	55628	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	72345031	72345031	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr18:72345031C>A	ENST00000299687.5	+	1	2056	c.2056C>A	c.(2056-2058)Cct>Act	p.P686T	ZNF407_ENST00000582337.1_Missense_Mutation_p.P686T|ZNF407_ENST00000577538.1_Missense_Mutation_p.P686T|ZNF407_ENST00000309902.6_Missense_Mutation_p.P686T	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	686					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.P686T(2)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TCAGGAAGAACCTCTGAAGTC	0.383																																																	2	Substitution - Missense(2)	kidney(2)											60.0	60.0	60.0					18																	72345031		1862	4101	5963	SO:0001583	missense	55628			AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.2056C>A	18.37:g.72345031C>A	ENSP00000299687:p.Pro686Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	C	8.668	0.902095	0.17760	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.13538	2.58;3.24	5.76	2.85	0.33270	.	0.417714	0.15576	U	0.255194	T	0.10852	0.0265	L	0.55481	1.735	0.09310	N	1	B;P;B	0.41848	0.135;0.763;0.055	B;B;B	0.36608	0.022;0.229;0.014	T	0.25328	-1.0135	10	0.21540	T	0.41	.	5.0055	0.14286	0.1692:0.5158:0.2383:0.0767	.	686;686;686	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	T	686	ENSP00000299687:P686T;ENSP00000310359:P686T	ENSP00000299687:P686T	P	+	1	0	ZNF407	70474019	0.000000	0.05858	0.002000	0.10522	0.308000	0.27856	-0.467000	0.06664	-0.091000	0.12440	-1.241000	0.01538	CCT		0.383	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1		NM_017757	
ELFN2	114794	broad.mit.edu	37	22	37770332	37770332	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr22:37770332C>T	ENST00000402918.2	-	3	2028	c.1243G>A	c.(1243-1245)Gtg>Atg	p.V415M	RP1-63G5.8_ENST00000609322.1_RNA|ELFN2_ENST00000435824.1_5'Flank|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	415					negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)	p.V415M(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					CAGTAGTACACGGCTCCCAGC	0.607																																																	1	Substitution - Missense(1)	kidney(1)											118.0	108.0	111.0					22																	37770332		2203	4300	6503	SO:0001583	missense	114794			BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	29396	protein-coding gene	gene with protein product			"""leucine rich repeat containing 62"", ""extracellular leucine-rich repeat and fibronectin type III containing 2"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 2"", ""protein phosphatase 1, regulatory subunit 29"""	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.1243G>A	22.37:g.37770332C>T	ENSP00000385277:p.Val415Met	Somatic		WXS	Illumina GAIIx	Phase_I	Q96PY3	Missense_Mutation	SNP	ENST00000402918.2	37	CCDS33642.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.684663	0.47991	.	.	ENSG00000166897	ENST00000349653;ENST00000402918	T;T	0.61510	0.1;0.1	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.76047	0.3933	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.77773	-0.2462	10	0.48119	T	0.1	-45.8313	18.0106	0.89222	0.0:1.0:0.0:0.0	.	415	Q5R3F8	PPR29_HUMAN	M	415	ENSP00000300147:V415M;ENSP00000385277:V415M	ENSP00000300147:V415M	V	-	1	0	ELFN2	36100278	1.000000	0.71417	0.732000	0.30844	0.377000	0.30045	7.730000	0.84881	2.235000	0.73313	0.609000	0.83330	GTG		0.607	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2		NM_052906	
Unknown	0	broad.mit.edu	37	5	99715528	99715528	+	IGR	SNP	C	C	T			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr5:99715528C>T								RNU6-1119P (226045 upstream) : RP11-346J10.1 (21616 downstream)																							AGCGGACAGTCGAAGCCCTTC	0.607																																																	0																																										SO:0001628	intergenic_variant	100133050																															5.37:g.99715528C>T		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP		37																																																																																				0	0.607									
TOB2P1	222699	broad.mit.edu	37	6	28185441	28185441	+	IGR	SNP	A	A	G			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr6:28185441A>G								ZNF192P1 (48069 upstream) : ZSCAN9 (7600 downstream)																							AGCACCACGGACTGGAACGGT	0.522																																																	0																																										SO:0001628	intergenic_variant	0																															6.37:g.28185441A>G		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP		37																																																																																				0	0.522									
TUBBP6	442308	broad.mit.edu	37	7	55714466	55714466	+	IGR	SNP	C	C	T			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr7:55714466C>T								RP11-310H4.3 (51767 upstream) : FKBP9L (34300 downstream)																							GAGCAGTTCACTGCCATGTTC	0.532																																																	0																																										SO:0001628	intergenic_variant	442308																															7.37:g.55714466C>T		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP		37																																																																																				0	0.532									
NRG2	9542	broad.mit.edu	37	5	139422020	139422020	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr5:139422020G>A	ENST00000361474.1	-	1	859	c.635C>T	c.(634-636)gCc>gTc	p.A212V	NRG2_ENST00000289422.7_Missense_Mutation_p.A212V|NRG2_ENST00000394770.1_Missense_Mutation_p.A212V|NRG2_ENST00000289409.4_Missense_Mutation_p.A212V|NRG2_ENST00000541337.1_Missense_Mutation_p.A212V|NRG2_ENST00000358522.3_Missense_Mutation_p.A212V|NRG2_ENST00000545385.1_Missense_Mutation_p.A212V	NM_004883.2	NP_004874.1	O14511	NRG2_HUMAN	neuregulin 2	212					embryo development (GO:0009790)|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)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.A120V(1)|p.A212V(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCGAGGGGGGCAAAGGCCGT	0.572																																																	2	Substitution - Missense(2)	kidney(2)											21.0	23.0	22.0					5																	139422020		2202	4300	6502	SO:0001583	missense	9542				CCDS4217.1, CCDS54910.1	5q23-q33	2013-01-11			ENSG00000158458	ENSG00000158458		"""Immunoglobulin superfamily / I-set domain containing"""	7998	protein-coding gene	gene with protein product	"""neural- and thymus-derived activator for ErbB kinases"", ""divergent of neuregulin-1"""	603818				9168114, 9168115	Standard	NM_004883		Approved	Don-1, NTAK, HRG2	uc003lev.2	O14511	OTTHUMG00000129241	ENST00000361474.1:c.635C>T	5.37:g.139422020G>A	ENSP00000354910:p.Ala212Val	Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000361474.1	37	CCDS4217.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953693	0.73902	.	.	ENSG00000158458	ENST00000541337;ENST00000289422;ENST00000361474;ENST00000446269;ENST00000545385;ENST00000394770;ENST00000289409;ENST00000358522;ENST00000544729;ENST00000378238	T;T;T;T;T;T;T;T	0.75260	-0.53;-0.71;-0.67;-0.71;-0.72;-0.92;-0.71;-0.72	4.04	4.04	0.47022	.	0.000000	0.48767	U	0.000172	T	0.73628	0.3611	L	0.39898	1.24	0.46185	D	0.998911	P;P;D;B	0.53619	0.867;0.791;0.961;0.337	P;B;P;B	0.52066	0.461;0.272;0.689;0.082	T	0.73827	-0.3860	10	0.38643	T	0.18	-0.29	13.9789	0.64291	0.0:0.0:1.0:0.0	.	212;212;212;212	O14511-2;O14511;O14511-4;O14511-3	.;NRG2_HUMAN;.;.	V	212;212;212;212;212;212;212;212;120;212	ENSP00000444235:A212V;ENSP00000289422:A212V;ENSP00000354910:A212V;ENSP00000438753:A212V;ENSP00000378251:A212V;ENSP00000289409:A212V;ENSP00000351323:A212V;ENSP00000367483:A212V	ENSP00000289409:A212V	A	-	2	0	NRG2	139402204	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	8.253000	0.89842	1.804000	0.52760	0.305000	0.20034	GCC		0.572	NRG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251340.1		NM_013982	
PPP1R14B	26472	broad.mit.edu	37	11	64013926	64013926	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr11:64013926A>G	ENST00000309318.3	-	1	487	c.220T>C	c.(220-222)Tgg>Cgg	p.W74R	PPP1R14B_ENST00000542235.1_5'Flank|RP11-783K16.5_ENST00000538355.1_RNA|RP11-783K16.13_ENST00000545800.1_lincRNA|PPP1R14B_ENST00000392210.2_5'Flank|RP11-783K16.5_ENST00000544553.1_RNA	NM_138689.2	NP_619634.1	Q96C90	PP14B_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14B	74					regulation of phosphorylation (GO:0042325)	cytoplasm (GO:0005737)	protein phosphatase inhibitor activity (GO:0004864)	p.W256R(1)		kidney(1)|lung(1)|pancreas(1)	3						TCCAGGATCCACTCCTCTAGG	0.672																																																	1	Substitution - Missense(1)	kidney(1)											38.0	28.0	32.0					11																	64013926		2200	4293	6493	SO:0001583	missense	26472			X91195	CCDS31596.1	11q13	2012-04-17		2001-07-06	ENSG00000173457	ENSG00000173457		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9057	protein-coding gene	gene with protein product		601140		PLCB3N		8838322, 10606530	Standard	NM_138689		Approved	SOM172, PNG, PHI-1	uc001nza.3	Q96C90	OTTHUMG00000167846	ENST00000309318.3:c.220T>C	11.37:g.64013926A>G	ENSP00000310117:p.Trp74Arg	Somatic		WXS	Illumina GAIIx	Phase_I	Q504S7|Q7KZD7	Missense_Mutation	SNP	ENST00000309318.3	37	CCDS31596.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.080411	0.76528	.	.	ENSG00000173457	ENST00000309318	.	.	.	2.98	2.98	0.34508	.	0.000000	0.85682	D	0.000000	T	0.77445	0.4131	M	0.87617	2.895	0.80722	D	1	D	0.71674	0.998	D	0.65874	0.939	T	0.80054	-0.1543	9	0.62326	D	0.03	-14.1903	9.6744	0.40032	1.0:0.0:0.0:0.0	.	74	Q96C90	PP14B_HUMAN	R	74	.	ENSP00000310117:W74R	W	-	1	0	PPP1R14B	63770502	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	6.511000	0.73733	1.612000	0.50221	0.459000	0.35465	TGG		0.672	PPP1R14B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396586.2		NM_138689	
SMG1P7	100506060	broad.mit.edu	37	16	70268080	70268080	+	RNA	SNP	T	T	C			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chr16:70268080T>C	ENST00000459379.1	-	0	0																											GTCTTACTGTTGGCTAAAAGG	0.373																																																	0																																												0																															16.37:g.70268080T>C		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000459379.1	37																																																																																					0.373	snoU13.216-201	NOVEL	basic	snoRNA	snoRNA				
GUCY2F	2986	broad.mit.edu	37	X	108631719	108631719	+	Splice_Site	SNP	T	T	A			TCGA-CJ-4904-01A-02D-1429-08	TCGA-CJ-4904-11A-01D-1429-08	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454	.		Illumina GAIIx	9bedcded-0c33-4199-bdce-18681595c2d8	b246a266-4944-4bc7-849f-5936ecbfb8cd	g.chrX:108631719T>A	ENST00000218006.2	-	15	3246	c.2955A>T	c.(2953-2955)tcA>tcT	p.S985S		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	985	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)	p.S985S(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						GGTTATTACCTGAGTGAAGGC	0.458																																						.											1	Substitution - coding silent(1)	kidney(1)											124.0	116.0	119.0					X																	108631719		2203	4300	6503	SO:0001630	splice_region_variant	2986			L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.2956+1A>T	X.37:g.108631719T>A		Somatic		WXS	Illumina GAIIx	Phase_I	Q9UJF1	Silent	SNP	ENST00000218006.2	37	CCDS14545.1																																																																																				0.458	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1		NM_001522	Silent
