#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
ABCB5	340273	hgsc.bcm.edu;ucsc.edu	37	7	20785034	20785034	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3316-01A-01D-0966-08	TCGA-A3-3316-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1241cff-4071-482e-be5b-adb9c46a480a	57bb209a-9a43-48f4-8183-8350bee49508	g.chr7:20785034delC	ENST00000404938.2	+	26	4054	c.3402delC	c.(3400-3402)atcfs	p.I1134fs	ABCB5_ENST00000258738.6_Frame_Shift_Del_p.I689fs	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	1134	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CAGCAAATATCCATTCTTTTA	0.428																																																	0													68.0	62.0	64.0					7																	20785034		2203	4300	6503	SO:0001589	frameshift_variant	340273			U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.3402delC	7.37:g.20785034delC	ENSP00000384881:p.Ile1134fs	Somatic		WXS	Illumina HiSeq	Phase_I	A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Frame_Shift_Del	DEL	ENST00000404938.2	37	CCDS55090.1																																																																																				0.428	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2		NM_178559	
ABCA13	154664	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	48556346	48556346	+	Silent	SNP	C	C	T			TCGA-A3-3316-01A-01D-0966-08	TCGA-A3-3316-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1241cff-4071-482e-be5b-adb9c46a480a	57bb209a-9a43-48f4-8183-8350bee49508	g.chr7:48556346C>T	ENST00000435803.1	+	52	13690	c.13666C>T	c.(13666-13668)Ctg>Ttg	p.L4556L	ABCA13_ENST00000544596.1_Silent_p.L286L	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4556					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.L4556L(1)|p.L4501L(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATGGATGTACCTGATGTCCAG	0.368																																																	2	Substitution - coding silent(2)	kidney(2)											283.0	277.0	279.0					7																	48556346		1903	4118	6021	SO:0001819	synonymous_variant	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.13666C>T	7.37:g.48556346C>T		Somatic		WXS	Illumina HiSeq	Phase_I	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	9.014	0.983117	0.18889	.	.	ENSG00000179869	ENST00000435451	.	.	.	5.35	4.47	0.54385	.	.	.	.	.	T	0.63129	0.2485	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61168	-0.7117	4	.	.	.	.	11.7019	0.51575	0.0:0.9179:0.0:0.0821	.	.	.	.	L	76	.	.	P	+	2	0	ABCA13	48526892	0.976000	0.34144	0.983000	0.44433	0.988000	0.76386	1.353000	0.34045	1.237000	0.43756	0.655000	0.94253	CCT		0.368	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2		NM_152701	
ARID5B	84159	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	63851221	63851221	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3316-01A-01D-0966-08	TCGA-A3-3316-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1241cff-4071-482e-be5b-adb9c46a480a	57bb209a-9a43-48f4-8183-8350bee49508	g.chr10:63851221A>C	ENST00000279873.7	+	10	2409	c.1999A>C	c.(1999-2001)Aac>Cac	p.N667H	ARID5B_ENST00000309334.5_Missense_Mutation_p.N424H	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	667					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)	p.N667H(1)		NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					TGGGCCCATGAACGAGAACCA	0.527																																																	1	Substitution - Missense(1)	kidney(1)											67.0	58.0	61.0					10																	63851221		2203	4300	6503	SO:0001583	missense	84159			M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"""-"""	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.1999A>C	10.37:g.63851221A>C	ENSP00000279873:p.Asn667His	Somatic		WXS	Illumina HiSeq	Phase_I	B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Missense_Mutation	SNP	ENST00000279873.7	37	CCDS31208.1	.	.	.	.	.	.	.	.	.	.	A	8.710	0.911888	0.17907	.	.	ENSG00000150347	ENST00000279873;ENST00000309334	T;T	0.46063	0.88;0.88	5.57	4.39	0.52855	.	0.283649	0.38217	N	0.001768	T	0.26122	0.0637	N	0.13043	0.29	0.35733	D	0.818097	B	0.13145	0.007	B	0.08055	0.003	T	0.21109	-1.0255	10	0.30078	T	0.28	-22.8987	13.2201	0.59883	0.8243:0.1756:0.0:0.0	.	667	Q14865	ARI5B_HUMAN	H	667;424	ENSP00000279873:N667H;ENSP00000308862:N424H	ENSP00000279873:N667H	N	+	1	0	ARID5B	63521227	1.000000	0.71417	1.000000	0.80357	0.655000	0.38815	3.722000	0.54948	2.242000	0.73789	0.533000	0.62120	AAC		0.527	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1		XM_084482	
ATP13A4	84239	broad.mit.edu;hgsc.bcm.edu	37	3	193177001	193177001	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3316-01A-01D-0966-08	TCGA-A3-3316-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1241cff-4071-482e-be5b-adb9c46a480a	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:193177001A>G	ENST00000342695.4	-	14	1865	c.1543T>C	c.(1543-1545)Ttt>Ctt	p.F515L	ATP13A4_ENST00000295548.3_Missense_Mutation_p.F515L|ATP13A4_ENST00000392443.3_Missense_Mutation_p.F496L	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	515						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.F515L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CCTGAGGCAAAGCTGTGAACT	0.517																																																	1	Substitution - Missense(1)	kidney(1)											58.0	55.0	56.0					3																	193177001		2203	4300	6503	SO:0001583	missense	84239			AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.1543T>C	3.37:g.193177001A>G	ENSP00000339182:p.Phe515Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	ENST00000342695.4	37	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	A	12.72	2.022667	0.35701	.	.	ENSG00000127249	ENST00000392443;ENST00000342695;ENST00000295548	T;T;D	0.87571	-0.22;-0.22;-2.27	5.41	5.41	0.78517	ATPase, cation-transporting, domain N (1);	0.082497	0.52532	D	0.000080	T	0.76948	0.4059	N	0.25245	0.725	0.41709	D	0.989446	B;B;B	0.18741	0.02;0.024;0.03	B;B;B	0.26864	0.072;0.044;0.074	T	0.69308	-0.5179	10	0.09843	T	0.71	-19.6129	9.9494	0.41630	0.8487:0.0:0.0:0.1513	.	515;515;515	Q4VNC1-3;Q4VNC1-2;Q4VNC1	.;.;AT134_HUMAN	L	496;515;515	ENSP00000376238:F496L;ENSP00000339182:F515L;ENSP00000295548:F515L	ENSP00000295548:F515L	F	-	1	0	ATP13A4	194659695	1.000000	0.71417	0.999000	0.59377	0.680000	0.39746	4.691000	0.61738	2.063000	0.61619	0.528000	0.53228	TTT		0.517	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4		NM_032279	
CCDC181	57821	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	169391358	169391358	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3316-01A-01D-0966-08	TCGA-A3-3316-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1241cff-4071-482e-be5b-adb9c46a480a	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:169391358A>G	ENST00000367806.3	-	3	463	c.311T>C	c.(310-312)tTc>tCc	p.F104S	CCDC181_ENST00000545005.1_Missense_Mutation_p.F104S|CCDC181_ENST00000367805.3_Missense_Mutation_p.F104S|CCDC181_ENST00000491570.1_5'UTR	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	104						nucleus (GO:0005634)		p.F104S(1)									GGATTCCTGGAAAGAGTTTTC	0.393																																																	1	Substitution - Missense(1)	kidney(1)											53.0	52.0	53.0					1																	169391358		2203	4299	6502	SO:0001583	missense	57821			AL049687	CCDS1279.1, CCDS72979.1	1q24	2013-03-14	2013-03-14	2013-03-14	ENSG00000117477	ENSG00000117477			28051	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 114"""	C1orf114			Standard	XM_005245381		Approved	FLJ25846	uc001gfz.1	Q5TID7	OTTHUMG00000035448	ENST00000367806.3:c.311T>C	1.37:g.169391358A>G	ENSP00000356780:p.Phe104Ser	Somatic		WXS	Illumina HiSeq	Phase_I	O60780|Q53FD5|Q5TID9|Q8TC48	Missense_Mutation	SNP	ENST00000367806.3	37		.	.	.	.	.	.	.	.	.	.	A	4.428	0.079221	0.08533	.	.	ENSG00000117477	ENST00000367805;ENST00000367806;ENST00000545005;ENST00000456107	T;T;T;T	0.22945	1.96;1.96;1.96;1.93	5.34	1.82	0.25136	.	0.664975	0.15537	N	0.257191	T	0.06600	0.0169	L	0.36672	1.1	0.27736	N	0.944651	B;B;B	0.16396	0.004;0.017;0.017	B;B;B	0.15484	0.005;0.013;0.013	T	0.21109	-1.0255	9	0.42905	T	0.14	-0.0692	4.7188	0.12909	0.607:0.1527:0.2403:0.0	.	104;104;104	Q5TID7-2;Q5TID7;Q5TID7-3	.;CA114_HUMAN;.	S	104	ENSP00000356779:F104S;ENSP00000356780:F104S;ENSP00000442297:F104S;ENSP00000411000:F104S	ENSP00000356779:F104S	F	-	2	0	C1orf114	167657982	0.959000	0.32827	0.991000	0.47740	0.872000	0.50106	0.298000	0.19120	0.350000	0.24002	0.460000	0.39030	TTC		0.393	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086099.1		NM_021179	
CD300E	342510	broad.mit.edu;hgsc.bcm.edu	37	17	72610086	72610086	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3316-01A-01D-0966-08	TCGA-A3-3316-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1241cff-4071-482e-be5b-adb9c46a480a	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:72610086C>T	ENST00000328630.3	-	3	515	c.475G>A	c.(475-477)Gag>Aag	p.E159K	CD300E_ENST00000392619.1_Missense_Mutation_p.E186K|CD300E_ENST00000426295.2_Missense_Mutation_p.E200K			Q496F6	CLM2_HUMAN	CD300e molecule	159					innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E200K(1)|p.E159K(1)		breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						GTCAACACCTCCCCGGTGCTG	0.612																																																	2	Substitution - Missense(2)	kidney(2)											115.0	93.0	100.0					17																	72610086		2203	4300	6503	SO:0001583	missense	342510			BX648376	CCDS11702.1	17q25.1	2013-01-11	2006-03-28	2006-02-22	ENSG00000186407	ENSG00000186407		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	28874	protein-coding gene	gene with protein product		609801	"""CD300 antigen like family member E"", ""CD300e antigen"""	CD300LE		15549731, 15557162	Standard	NM_181449		Approved	IREM2, CLM2	uc002jlb.2	Q496F6	OTTHUMG00000067605	ENST00000328630.3:c.475G>A	17.37:g.72610086C>T	ENSP00000329942:p.Glu159Lys	Somatic		WXS	Illumina HiSeq	Phase_I	B4DNS1|Q7Z7I3	Missense_Mutation	SNP	ENST00000328630.3	37	CCDS11702.1	.	.	.	.	.	.	.	.	.	.	C	4.278	0.050649	0.08243	.	.	ENSG00000186407	ENST00000392619;ENST00000426295;ENST00000328630	T;T;T	0.03496	3.93;3.91;3.95	2.7	0.563	0.17296	.	4.120870	0.00780	U	0.001272	T	0.04497	0.0123	L	0.52573	1.65	0.09310	N	1	B	0.34015	0.435	B	0.29353	0.101	T	0.42682	-0.9437	10	0.20519	T	0.43	0.0632	5.2621	0.15580	0.0:0.7119:0.0:0.2881	.	159	Q496F6	CLM2_HUMAN	K	186;200;159	ENSP00000376395:E186K;ENSP00000416642:E200K;ENSP00000329942:E159K	ENSP00000329942:E159K	E	-	1	0	CD300E	70121681	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.017000	0.13399	0.176000	0.19873	0.411000	0.27672	GAG		0.612	CD300E-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_181449	
CLDN4	1364	broad.mit.edu;ucsc.edu	37	7	73246086	73246086	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3316-01A-01D-0966-08	TCGA-A3-3316-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1241cff-4071-482e-be5b-adb9c46a480a	57bb209a-9a43-48f4-8183-8350bee49508	g.chr7:73246086T>G	ENST00000435050.1	+	2	3235	c.555T>G	c.(553-555)tgT>tgG	p.C185W	CLDN4_ENST00000340958.2_Missense_Mutation_p.C185W|CLDN4_ENST00000431918.1_Missense_Mutation_p.C185W			O14493	CLD4_HUMAN	claudin 4	185					calcium-independent cell-cell adhesion (GO:0016338)|establishment of skin barrier (GO:0061436)|female pregnancy (GO:0007565)|response to progesterone (GO:0032570)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basal plasma membrane (GO:0009925)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)|transmembrane signaling receptor activity (GO:0004888)	p.C185W(1)		kidney(2)|lung(4)|urinary_tract(1)	7		Lung NSC(55;0.159)				GCTGCAACTGTCCACCCCGCA	0.652																																																	1	Substitution - Missense(1)	kidney(1)											53.0	54.0	54.0					7																	73246086		2203	4300	6503	SO:0001583	missense	1364			AB000712	CCDS5560.1	7q11.23	2008-07-18			ENSG00000189143	ENSG00000189143		"""Claudins"""	2046	protein-coding gene	gene with protein product	"""Clostridium perfringens enterotoxin receptor 1"", ""Williams-Beuren syndrome chromosomal region 8 protein"""	602909		CPETR, CPETR1		9334247, 9892664	Standard	NM_001305		Approved	CPE-R, WBSCR8, hCPE-R	uc003tzi.4	O14493	OTTHUMG00000023425	ENST00000435050.1:c.555T>G	7.37:g.73246086T>G	ENSP00000409544:p.Cys185Trp	Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000435050.1	37	CCDS5560.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.102065	0.76983	.	.	ENSG00000189143	ENST00000435050;ENST00000431918;ENST00000340958;ENST00000543176	D;D;D	0.86562	-2.14;-2.14;-2.14	5.28	4.4	0.53042	.	0.000000	0.85682	D	0.000000	D	0.94994	0.8380	H	0.96996	3.92	0.80722	D	1	D	0.69078	0.997	D	0.64687	0.928	D	0.95674	0.8726	10	0.87932	D	0	.	12.0232	0.53354	0.0:0.9149:0.0:0.0851	.	185	O14493	CLD4_HUMAN	W	185;185;185;172	ENSP00000409544:C185W;ENSP00000388639:C185W;ENSP00000342445:C185W	ENSP00000342445:C185W	C	+	3	2	CLDN4	72884022	1.000000	0.71417	0.974000	0.42286	0.880000	0.50808	3.301000	0.51842	1.220000	0.43490	-0.251000	0.11542	TGT		0.652	CLDN4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348030.1		NM_001305	
CRB1	23418	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	197390735	197390735	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3316-01A-01D-0966-08	TCGA-A3-3316-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1241cff-4071-482e-be5b-adb9c46a480a	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:197390735G>A	ENST00000367400.3	+	6	1912	c.1777G>A	c.(1777-1779)Gcg>Acg	p.A593T	CRB1_ENST00000543483.1_Intron|CRB1_ENST00000367399.2_Missense_Mutation_p.A481T|CRB1_ENST00000544212.1_Missense_Mutation_p.A74T|CRB1_ENST00000535699.1_Missense_Mutation_p.A524T|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000538660.1_Missense_Mutation_p.A593T	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	593	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A593T(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GAAATGCATCGCGAAAGCTCC	0.468																																																	1	Substitution - Missense(1)	kidney(1)											117.0	111.0	113.0					1																	197390735		2203	4300	6503	SO:0001583	missense	23418				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.1777G>A	1.37:g.197390735G>A	ENSP00000356370:p.Ala593Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.650083	0.00785	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367401	T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14	5.84	-11.7	0.00046	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.33000	0.0848	N	0.00419	-1.52	0.09310	N	1	B;B;B;B;B	0.09022	0.001;0.001;0.001;0.0;0.002	B;B;B;B;B	0.06405	0.001;0.001;0.002;0.001;0.002	T	0.31420	-0.9944	9	0.08381	T	0.77	.	7.7285	0.28773	0.5034:0.0715:0.3537:0.0714	.	593;524;481;242;593	B7Z5T2;F5H0L2;P82279-3;P82279-4;P82279	.;.;.;.;CRUM1_HUMAN	T	524;593;593;481;74;242	ENSP00000438786:A524T;ENSP00000438091:A593T;ENSP00000356370:A593T;ENSP00000356369:A481T;ENSP00000444556:A74T	ENSP00000356369:A481T	A	+	1	0	CRB1	195657358	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.054000	0.11826	-2.928000	0.00302	-2.912000	0.00091	GCG		0.468	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2		NM_201253	
CUL5	8065	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	107974931	107974931	+	Silent	SNP	A	A	G			TCGA-A3-3316-01A-01D-0966-08	TCGA-A3-3316-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1241cff-4071-482e-be5b-adb9c46a480a	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:107974931A>G	ENST00000393094.2	+	19	2779	c.2163A>G	c.(2161-2163)caA>caG	p.Q721Q	RP11-144G7.2_ENST00000525548.1_RNA	NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	721					calcium ion transmembrane transport (GO:0070588)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cytosolic calcium ion homeostasis (GO:0051480)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|response to osmotic stress (GO:0006970)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul5-RING ubiquitin ligase complex (GO:0031466)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|receptor activity (GO:0004872)|ubiquitin protein ligase binding (GO:0031625)	p.Q721Q(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		CTATCATACAAATAATGAAAA	0.249																																																	1	Substitution - coding silent(1)	kidney(1)											35.0	39.0	38.0					11																	107974931		2194	4289	6483	SO:0001819	synonymous_variant	8065			X81882	CCDS31668.1	11q22.3	2011-05-24			ENSG00000166266	ENSG00000166266			2556	protein-coding gene	gene with protein product		601741				8681378, 9037604	Standard	XM_005271682		Approved	VACM-1	uc001pjv.3	Q93034	OTTHUMG00000166369	ENST00000393094.2:c.2163A>G	11.37:g.107974931A>G		Somatic		WXS	Illumina HiSeq	Phase_I	A8K960|O14766|Q9BZC6	Silent	SNP	ENST00000393094.2	37	CCDS31668.1																																																																																				0.249	CUL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389429.1			
CYP4F12	66002	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	15794430	15794430	+	Missense_Mutation	SNP	G	G	A	rs377135867		TCGA-A3-3316-01A-01D-0966-08	TCGA-A3-3316-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1241cff-4071-482e-be5b-adb9c46a480a	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:15794430G>A	ENST00000550308.1	+	7	1155	c.775G>A	c.(775-777)Gcc>Acc	p.A259T	CYP4F12_ENST00000324632.10_Missense_Mutation_p.A259T	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	259					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)	p.A259T(2)		NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	CTTCCACAGGGCCTGCCGCCT	0.552																																																	2	Substitution - Missense(2)	kidney(1)|skin(1)											80.0	82.0	81.0					19																	15794430		2198	4296	6494	SO:0001583	missense	66002			AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.775G>A	19.37:g.15794430G>A	ENSP00000448998:p.Ala259Thr	Somatic		WXS	Illumina HiSeq	Phase_I	E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	ENST00000550308.1	37	CCDS42517.1	.	.	.	.	.	.	.	.	.	.	.	15.04	2.714618	0.48622	.	.	ENSG00000186204	ENST00000550308;ENST00000324632	T;T	0.72835	-0.69;-0.69	2.47	2.47	0.30058	.	0.177740	0.35838	U	0.002941	T	0.74951	0.3784	M	0.68593	2.085	0.48288	D	0.999626	P	0.51147	0.942	P	0.53102	0.718	T	0.78658	-0.2118	10	0.87932	D	0	.	11.0495	0.47878	0.0:0.0:1.0:0.0	.	259	Q9HCS2	CP4FC_HUMAN	T	259	ENSP00000448998:A259T;ENSP00000321821:A259T	ENSP00000321821:A259T	A	+	1	0	CYP4F12	15655430	1.000000	0.71417	0.911000	0.35937	0.069000	0.16628	5.211000	0.65219	1.686000	0.51046	0.491000	0.48974	GCC		0.552	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			
DSG1	1828	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	28934518	28934518	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3316-01A-01D-0966-08	TCGA-A3-3316-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1241cff-4071-482e-be5b-adb9c46a480a	57bb209a-9a43-48f4-8183-8350bee49508	g.chr18:28934518C>T	ENST00000257192.4	+	15	2571	c.2359C>T	c.(2359-2361)Cag>Tag	p.Q787*	DSG1_ENST00000462981.2_Nonsense_Mutation_p.Q146*|RP11-534N16.1_ENST00000578119.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	787					apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)	p.Q787*(1)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TTGCCTTCCTCAGGAAACAGA	0.483																																																	1	Substitution - Nonsense(1)	kidney(1)											102.0	96.0	98.0					18																	28934518		2203	4300	6503	SO:0001587	stop_gained	1828			X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.2359C>T	18.37:g.28934518C>T	ENSP00000257192:p.Gln787*	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z845	Nonsense_Mutation	SNP	ENST00000257192.4	37	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.526934	0.85706	.	.	ENSG00000134760	ENST00000257192	.	.	.	6.04	6.04	0.98038	.	0.663555	0.14672	N	0.305318	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	13.7479	0.62887	0.0:0.9302:0.0:0.0698	.	.	.	.	X	787	.	ENSP00000257192:Q787X	Q	+	1	0	DSG1	27188516	0.988000	0.35896	0.911000	0.35937	0.103000	0.19146	2.834000	0.48167	2.873000	0.98535	0.563000	0.77884	CAG		0.483	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1		NM_001942	
DSG2	1829	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	29116293	29116293	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3316-01A-01D-0966-08	TCGA-A3-3316-11A-01D-0966-08	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	e1241cff-4071-482e-be5b-adb9c46a480a	57bb209a-9a43-48f4-8183-8350bee49508	g.chr18:29116293G>C	ENST00000261590.8	+	11	1761	c.1552G>C	c.(1552-1554)Gag>Cag	p.E518Q		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	518					apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E518Q(1)		breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TGTTACTGCAGAGGACCTGGA	0.468																																																	1	Substitution - Missense(1)	kidney(1)											93.0	88.0	89.0					18																	29116293		1959	4170	6129	SO:0001583	missense	1829			Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.1552G>C	18.37:g.29116293G>C	ENSP00000261590:p.Glu518Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q4KKU6	Missense_Mutation	SNP	ENST00000261590.8	37	CCDS42423.1	.	.	.	.	.	.	.	.	.	.	G	9.035	0.988335	0.18966	.	.	ENSG00000046604	ENST00000261590	T	0.60920	0.15	5.89	-4.33	0.03677	.	0.706652	0.13222	N	0.404319	T	0.36441	0.0967	L	0.31476	0.935	0.09310	N	1	B	0.14805	0.011	B	0.06405	0.002	T	0.30001	-0.9993	10	0.14252	T	0.57	.	10.373	0.44066	0.2105:0.4193:0.3702:0.0	.	518	Q14126	DSG2_HUMAN	Q	518	ENSP00000261590:E518Q	ENSP00000261590:E518Q	E	+	1	0	DSG2	27370291	0.000000	0.05858	0.001000	0.08648	0.397000	0.30659	-0.523000	0.06230	-0.736000	0.04831	0.655000	0.94253	GAG		0.468	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1		NM_001943	
EPHX1	2052	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	226032237	226032237	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3316-01A-01D-0966-08	TCGA-A3-3316-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1241cff-4071-482e-be5b-adb9c46a480a	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:226032237T>C	ENST00000366837.4	+	8	1275	c.1079T>C	c.(1078-1080)cTc>cCc	p.L360P	EPHX1_ENST00000272167.5_Missense_Mutation_p.L360P|RP11-285F7.2_ENST00000424332.1_RNA	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	360					aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)	p.L360P(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					AACGTCATGCTCTACTGGACA	0.572																																																	1	Substitution - Missense(1)	kidney(1)											127.0	104.0	112.0					1																	226032237		2203	4300	6503	SO:0001583	missense	2052			J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.1079T>C	1.37:g.226032237T>C	ENSP00000355802:p.Leu360Pro	Somatic		WXS	Illumina HiSeq	Phase_I	B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Missense_Mutation	SNP	ENST00000366837.4	37	CCDS1547.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.476345	0.84640	.	.	ENSG00000143819	ENST00000272167;ENST00000366837	T;T	0.39406	1.08;1.08	5.37	5.37	0.77165	Alpha/beta hydrolase fold-1 (1);	0.319686	0.30428	N	0.009659	T	0.71660	0.3366	M	0.94101	3.495	0.80722	D	1	D	0.53151	0.958	P	0.62649	0.905	T	0.80331	-0.1427	10	0.87932	D	0	-2.8373	15.6584	0.77162	0.0:0.0:0.0:1.0	.	360	P07099	HYEP_HUMAN	P	360	ENSP00000272167:L360P;ENSP00000355802:L360P	ENSP00000272167:L360P	L	+	2	0	EPHX1	224098860	1.000000	0.71417	0.999000	0.59377	0.932000	0.56968	7.816000	0.86201	2.169000	0.68431	0.459000	0.35465	CTC		0.572	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092064.1		NM_000120	
EFCAB2	84288	broad.mit.edu;hgsc.bcm.edu	37	1	245222709	245222709	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3316-01A-01D-0966-08	TCGA-A3-3316-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1241cff-4071-482e-be5b-adb9c46a480a	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:245222709G>C	ENST00000366522.2	+	4	681	c.540G>C	c.(538-540)agG>agC	p.R180S	EFCAB2_ENST00000366523.1_Missense_Mutation_p.R44S|EFCAB2_ENST00000447569.2_Missense_Mutation_p.R44S|EFCAB2_ENST00000487845.1_3'UTR			Q5VUJ9	EFCB2_HUMAN	EF-hand calcium binding domain 2	180	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)	p.R44S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|stomach(2)	13	all_cancers(71;2.93e-06)|all_epithelial(71;2.13e-05)|all_lung(81;0.0337)|Lung NSC(105;0.0472)|Ovarian(71;0.0584)|Breast(184;0.0716)|all_neural(11;0.0982)		OV - Ovarian serous cystadenocarcinoma(106;0.015)			CAATTATCAGGTCATTAGGAT	0.418																																																	1	Substitution - Missense(1)	kidney(1)											80.0	77.0	78.0					1																	245222709		2203	4300	6503	SO:0001583	missense	84288			AB209286	CCDS31082.1, CCDS44341.1	1q44	2014-07-18			ENSG00000203666	ENSG00000203666		"""EF-hand domain containing"""	28166	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 8"""					23427265	Standard	NM_032328		Approved	MGC12458, DRC8, CFAP200	uc001ibc.2	Q5VUJ9	OTTHUMG00000040474	ENST00000366522.2:c.540G>C	1.37:g.245222709G>C	ENSP00000355479:p.Arg180Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B4DZE9|Q59G23|Q9BS36	Missense_Mutation	SNP	ENST00000366522.2	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	19.14|19.14|19.14	3.769671|3.769671|3.769671	0.69992|0.69992|0.69992	.|.|.	.|.|.	ENSG00000203666|ENSG00000203666|ENSG00000203666	ENST00000551317;ENST00000425550|ENST00000366523;ENST00000366522;ENST00000447569|ENST00000366521	.|T;T;T|.	.|0.70399|.	.|-0.48;-0.48;-0.48|.	5.79|5.79|5.79	1.33|1.33|1.33	0.21861|0.21861|0.21861	.|EF-hand-like domain (1);|.	.|0.195116|.	.|0.39210|.	.|N|.	.|0.001427|.	T|T|T	0.74566|0.74566|0.74566	0.3733|0.3733|0.3733	M|M|M	0.86740|0.86740|0.86740	2.835|2.835|2.835	0.40845|0.40845|0.40845	D|D|D	0.983704|0.983704|0.983704	.|D;D;D;D|.	.|0.89917|.	.|0.999;0.999;1.0;0.999|.	.|D;D;D;D|.	.|0.79784|.	.|0.984;0.974;0.993;0.973|.	T|T|T	0.75360|0.75360|0.75360	-0.3345|-0.3345|-0.3345	5|10|5	.|0.87932|.	.|D|.	.|0|.	.|.|.	9.9636|9.9636|9.9636	0.41710|0.41710|0.41710	0.3314:0.0:0.6686:0.0|0.3314:0.0:0.6686:0.0|0.3314:0.0:0.6686:0.0	.|.|.	.|44;102;180;44|.	.|B4DZE9;B1AN33;Q5VUJ9;Q5VUJ9-2|.	.|.;.;EFCB2_HUMAN;.|.	A|S|L	36|44;180;44|103	.|ENSP00000355480:R44S;ENSP00000355479:R180S;ENSP00000408661:R44S|.	.|ENSP00000355479:R180S|.	G|R|V	+|+|+	2|3|1	0|2|0	EFCAB2|EFCAB2|EFCAB2	243289332|243289332|243289332	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.988000|0.988000|0.988000	0.46212|0.46212|0.46212	0.981000|0.981000|0.981000	0.71138|0.71138|0.71138	0.876000|0.876000|0.876000	0.28092|0.28092|0.28092	0.382000|0.382000|0.382000	0.24878|0.24878|0.24878	0.557000|0.557000|0.557000	0.71058|0.71058|0.71058	GGT|AGG|GTC		0.418	EFCAB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000097407.2			
FANCF	2188	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	22646829	22646829	+	Silent	SNP	C	C	T			TCGA-A3-3316-01A-01D-0966-08	TCGA-A3-3316-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1241cff-4071-482e-be5b-adb9c46a480a	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:22646829C>T	ENST00000327470.3	-	1	558	c.528G>A	c.(526-528)gaG>gaA	p.E176E	AC103801.2_ENST00000428556.2_5'Flank	NM_022725.3	NP_073562.1	Q9NPI8	FANCF_HUMAN	Fanconi anemia, complementation group F	176					DNA repair (GO:0006281)|ovarian follicle development (GO:0001541)|spermatogenesis (GO:0007283)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)	p.E176E(1)		kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						CCTTCCCCACCTCCTGCAGAC	0.597			"""N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia		OREG0020844	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											yes	Rec		Fanconi anaemia F	11	11p15	2188	"""Fanconi anemia, complementation group F"""		L	1	Substitution - coding silent(1)	kidney(1)											63.0	76.0	72.0					11																	22646829		2203	4300	6503	SO:0001819	synonymous_variant	2188	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)		CCDS7857.1	11p15	2014-09-17				ENSG00000183161		"""Fanconi anemia, complementation groups"""	3587	protein-coding gene	gene with protein product		613897				9382107	Standard	NM_022725		Approved	FAF	uc001mql.1	Q9NPI8		ENST00000327470.3:c.528G>A	11.37:g.22646829C>T		Somatic	757	WXS	Illumina HiSeq	Phase_I	Q52LM0	Silent	SNP	ENST00000327470.3	37	CCDS7857.1																																																																																				0.597	FANCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387712.2		NM_022725	
FGA	2243	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	155507521	155507521	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3316-01A-01D-0966-08	TCGA-A3-3316-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1241cff-4071-482e-be5b-adb9c46a480a	57bb209a-9a43-48f4-8183-8350bee49508	g.chr4:155507521G>T	ENST00000302053.3	-	5	1138	c.1060C>A	c.(1060-1062)Cct>Act	p.P354T	FGA_ENST00000403106.3_Missense_Mutation_p.P354T	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	354					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)	p.P354T(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GTACTACCAGGTCTAGGGCTC	0.557																																					NSCLC(143;340 1922 20892 22370 48145)												1	Substitution - Missense(1)	kidney(1)											78.0	82.0	80.0					4																	155507521		2203	4300	6503	SO:0001583	missense	2243				CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.1060C>A	4.37:g.155507521G>T	ENSP00000306361:p.Pro354Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.532625	0.27387	.	.	ENSG00000171560	ENST00000302053;ENST00000403106	D;D	0.81739	-1.53;-1.53	4.88	-3.15	0.05233	.	2.155260	0.02993	N	0.147047	T	0.74520	0.3727	M	0.62723	1.935	0.09310	N	1	B;B	0.19583	0.037;0.004	B;B	0.12837	0.008;0.001	T	0.56625	-0.7948	10	0.72032	D	0.01	.	2.5281	0.04696	0.4898:0.1255:0.2569:0.1278	.	354;354	P02671-2;P02671	.;FIBA_HUMAN	T	354	ENSP00000306361:P354T;ENSP00000385981:P354T	ENSP00000306361:P354T	P	-	1	0	FGA	155726971	0.000000	0.05858	0.000000	0.03702	0.125000	0.20455	-4.040000	0.00307	-0.392000	0.07751	-0.262000	0.10625	CCT		0.557	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1		NM_000508	
GLYATL1	92292	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	58711084	58711084	+	5'UTR	SNP	G	G	C			TCGA-A3-3316-01A-01D-0966-08	TCGA-A3-3316-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1241cff-4071-482e-be5b-adb9c46a480a	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:58711084G>C	ENST00000317391.4	+	0	243				GLYATL1_ENST00000300079.5_Missense_Mutation_p.R31S|RP11-142C4.6_ENST00000533954.1_RNA	NM_001220494.1	NP_001207423.1	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1							mitochondrion (GO:0005739)	glutamine N-acyltransferase activity (GO:0047946)|glycine N-acyltransferase activity (GO:0047961)	p.R31S(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	aacacggaaggtacctgcagg	0.458																																																	1	Substitution - Missense(1)	kidney(1)											69.0	63.0	65.0					11																	58711084		2201	4295	6496	SO:0001623	5_prime_UTR_variant	92292			AK091965	CCDS31556.1, CCDS55768.1	11q12.1	2014-08-12			ENSG00000166840	ENSG00000166840			30519	protein-coding gene	gene with protein product		614761				12477932	Standard	NM_080661		Approved	MGC15397, FLJ34646	uc001nnh.2	Q969I3	OTTHUMG00000167221	ENST00000317391.4:c.-98G>C	11.37:g.58711084G>C		Somatic		WXS	Illumina HiSeq	Phase_I	A6NDT0|Q7Z510|Q8NAW8	Missense_Mutation	SNP	ENST00000317391.4	37	CCDS55768.1	.	.	.	.	.	.	.	.	.	.	.	0.286	-0.982887	0.02180	.	.	ENSG00000166840	ENST00000526351;ENST00000300079	T;T	0.53206	0.63;2.0	0.113	0.113	0.14631	.	.	.	.	.	T	0.24509	0.0594	N	0.08118	0	0.09310	N	1	B	0.18013	0.025	B	0.12837	0.008	T	0.20371	-1.0277	8	0.72032	D	0.01	.	.	.	.	.	31	Q969I3-2	.	S	23;31	ENSP00000434652:R23S;ENSP00000300079:R31S	ENSP00000300079:R31S	R	+	3	2	GLYATL1	58467660	0.013000	0.17824	0.010000	0.14722	0.010000	0.07245	0.251000	0.18257	0.183000	0.20059	0.186000	0.17326	AGG		0.458	GLYATL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393783.1		NM_080661	
GPR179	440435	hgsc.bcm.edu	37	17	36483603	36483604	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3316-01A-01D-0966-08	TCGA-A3-3316-11A-01D-0966-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1241cff-4071-482e-be5b-adb9c46a480a	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:36483603_36483604insT	ENST00000342292.4	-	11	5868_5869	c.5848_5849insA	c.(5848-5850)acafs	p.T1950fs	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1950					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CTCATGGCTTGTTTTTTCCCCA	0.505																																																	0																																										SO:0001589	frameshift_variant	440435				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.5849dupA	17.37:g.36483609_36483609dupT	ENSP00000345060:p.Thr1950fs	Somatic		WXS	Illumina HiSeq	Phase_I		Frame_Shift_Ins	INS	ENST00000342292.4	37	CCDS42308.1																																																																																				0.505	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			
GRIN2A	2903	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	9857569	9857569	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3316-01A-01D-0966-08	TCGA-A3-3316-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1241cff-4071-482e-be5b-adb9c46a480a	57bb209a-9a43-48f4-8183-8350bee49508	g.chr16:9857569G>T	ENST00000396573.2	-	14	4141	c.3832C>A	c.(3832-3834)Caa>Aaa	p.Q1278K	GRIN2A_ENST00000535259.1_Intron|GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000330684.3_Missense_Mutation_p.Q1278K|GRIN2A_ENST00000396575.2_Missense_Mutation_p.Q1278K	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1278					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.Q1278K(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TTTTGTAATTGAAGGGCATTG	0.517																																																	1	Substitution - Missense(1)	kidney(1)											123.0	100.0	108.0					16																	9857569		2197	4300	6497	SO:0001583	missense	2903				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3832C>A	16.37:g.9857569G>T	ENSP00000379818:p.Gln1278Lys	Somatic		WXS	Illumina HiSeq	Phase_I	O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	G	4.638	0.118512	0.08881	.	.	ENSG00000183454	ENST00000396573;ENST00000330684;ENST00000396575	T;T;T	0.11604	2.76;2.76;2.76	5.32	5.32	0.75619	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.102605	0.64402	D	0.000002	T	0.15132	0.0365	L	0.58101	1.795	0.80722	D	1	B	0.33777	0.425	B	0.34536	0.185	T	0.03148	-1.1067	9	.	.	.	.	18.0244	0.89264	0.0:0.0:1.0:0.0	.	1278	Q12879	NMDE1_HUMAN	K	1278	ENSP00000379818:Q1278K;ENSP00000332549:Q1278K;ENSP00000379820:Q1278K	.	Q	-	1	0	GRIN2A	9765070	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.433000	0.80362	2.495000	0.84180	0.655000	0.94253	CAA		0.517	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			
GUCY1A3	2982	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	156632326	156632326	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3316-01A-01D-0966-08	TCGA-A3-3316-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1241cff-4071-482e-be5b-adb9c46a480a	57bb209a-9a43-48f4-8183-8350bee49508	g.chr4:156632326G>C	ENST00000296518.7	+	6	1218	c.1009G>C	c.(1009-1011)Ggg>Cgg	p.G337R	GUCY1A3_ENST00000393832.3_Missense_Mutation_p.G79R|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.G337R|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.G337R|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.G337R|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.G337R|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.G337R			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	337					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)	p.G337R(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GACGTTTAGCGGGATCATGAC	0.383																																																	1	Substitution - Missense(1)	kidney(1)											81.0	84.0	83.0					4																	156632326		2202	4299	6501	SO:0001583	missense	2982				CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.1009G>C	4.37:g.156632326G>C	ENSP00000296518:p.Gly337Arg	Somatic		WXS	Illumina HiSeq	Phase_I	D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	ENST00000296518.7	37	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.232757	0.39498	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000393832;ENST00000296518;ENST00000513574	D;D;D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33;-2.33;-2.33;-2.33	5.76	5.76	0.90799	Haem NO binding associated (1);	0.000000	0.64402	D	0.000004	T	0.81702	0.4878	N	0.12569	0.235	0.58432	D	0.999999	B;B;B	0.26445	0.076;0.076;0.149	B;B;B	0.37943	0.203;0.203;0.261	T	0.74993	-0.3474	10	0.15952	T	0.53	.	20.3219	0.98684	0.0:0.0:1.0:0.0	.	337;337;337	B3KU69;Q02108;D6RDW3	.;GCYA3_HUMAN;.	R	337;337;337;337;79;337;337	ENSP00000424361:G337R;ENSP00000421493:G337R;ENSP00000426968:G337R;ENSP00000412201:G337R;ENSP00000377418:G79R;ENSP00000296518:G337R;ENSP00000426040:G337R	ENSP00000296518:G337R	G	+	1	0	GUCY1A3	156851776	1.000000	0.71417	0.929000	0.37066	0.915000	0.54546	9.122000	0.94380	2.876000	0.98609	0.643000	0.83706	GGG		0.383	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2			
HSPA5	3309	broad.mit.edu;hgsc.bcm.edu	37	9	127998975	127998975	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3316-01A-01D-0966-08	TCGA-A3-3316-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1241cff-4071-482e-be5b-adb9c46a480a	57bb209a-9a43-48f4-8183-8350bee49508	g.chr9:127998975T>C	ENST00000324460.6	-	8	2064	c.1861A>G	c.(1861-1863)Aag>Gag	p.K621E		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	621					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to antibiotic (GO:0071236)|cellular response to glucose starvation (GO:0042149)|cellular response to interleukin-4 (GO:0071353)|cerebellar Purkinje cell layer development (GO:0021680)|cerebellum structural organization (GO:0021589)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|maintenance of protein localization in endoplasmic reticulum (GO:0035437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell migration (GO:0030335)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein folding in endoplasmic reticulum (GO:0060904)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|chaperone binding (GO:0051087)|enzyme binding (GO:0019899)|glycoprotein binding (GO:0001948)|misfolded protein binding (GO:0051787)|protein domain specific binding (GO:0019904)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)	p.K621E(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Acetylsalicylic acid(DB00945)|Antihemophilic Factor(DB00025)	TCCAGTTCCTTCTTCTTAGCT	0.423										Prostate(1;0.17)																																							1	Substitution - Missense(1)	kidney(1)											106.0	100.0	102.0					9																	127998975		2203	4300	6503	SO:0001583	missense	3309				CCDS6863.1	9q33.3	2011-09-02	2002-08-29		ENSG00000044574	ENSG00000044574		"""Heat shock proteins / HSP70"""	5238	protein-coding gene	gene with protein product		138120	"""heat shock 70kD protein 5 (glucose-regulated protein, 78kD)"""	GRP78			Standard	NM_005347		Approved	BiP	uc004bpn.3	P11021	OTTHUMG00000020672	ENST00000324460.6:c.1861A>G	9.37:g.127998975T>C	ENSP00000324173:p.Lys621Glu	Somatic		WXS	Illumina HiSeq	Phase_I	B0QZ61|Q2EF78|Q9NPF1|Q9UK02	Missense_Mutation	SNP	ENST00000324460.6	37	CCDS6863.1	.	.	.	.	.	.	.	.	.	.	T	13.80	2.344314	0.41498	.	.	ENSG00000044574	ENST00000324460	T	0.15372	2.43	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.13457	0.0326	N	0.17379	0.485	0.80722	D	1	B	0.17667	0.023	B	0.26310	0.068	T	0.06844	-1.0804	10	0.87932	D	0	-19.9514	13.9572	0.64157	0.0:0.0:0.0:1.0	.	621	P11021	GRP78_HUMAN	E	621	ENSP00000324173:K621E	ENSP00000324173:K621E	K	-	1	0	HSPA5	127038796	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.997000	0.88414	1.955000	0.56771	0.477000	0.44152	AAG		0.423	HSPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054062.1			
IGFL4	444882	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	46543533	46543533	+	Missense_Mutation	SNP	C	C	T	rs148950533	byFrequency	TCGA-A3-3316-01A-01D-0966-08	TCGA-A3-3316-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1241cff-4071-482e-be5b-adb9c46a480a	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:46543533C>T	ENST00000377697.1	-	3	265	c.212G>A	c.(211-213)tGc>tAc	p.C71Y	IGFL4_ENST00000595006.1_5'Flank|IGFL4_ENST00000601672.1_5'UTR	NM_001002923.1	NP_001002923.1	Q6B9Z1	IGFL4_HUMAN	IGF-like family member 4	71						extracellular space (GO:0005615)		p.C71Y(1)		cervix(1)|kidney(1)|lung(1)	3		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		GTGCTGGAAGCAGGGCCAGAA	0.577																																																	1	Substitution - Missense(1)	kidney(1)											45.0	49.0	48.0					19																	46543533		2199	4300	6499	SO:0001583	missense	444882			AY672114	CCDS33057.1	19q13.32	2006-07-14							32931	protein-coding gene	gene with protein product		610547				14702039	Standard	NM_001002923		Approved		uc002pdy.1	Q6B9Z1		ENST00000377697.1:c.212G>A	19.37:g.46543533C>T	ENSP00000366926:p.Cys71Tyr	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000377697.1	37	CCDS33057.1	.	.	.	.	.	.	.	.	.	.	c	14.72	2.621103	0.46736	.	.	ENSG00000204869	ENST00000377697	T	0.25085	1.82	2.39	1.34	0.21922	.	0.207220	0.24628	N	0.036904	T	0.22666	0.0547	L	0.42245	1.32	0.23232	N	0.998071	P	0.38800	0.648	B	0.43809	0.432	T	0.09952	-1.0651	10	0.87932	D	0	.	4.9265	0.13896	0.0:0.8229:0.0:0.1771	.	71	Q6B9Z1	IGFL4_HUMAN	Y	71	ENSP00000366926:C71Y	ENSP00000366926:C71Y	C	-	2	0	IGFL4	51235373	0.769000	0.28531	0.613000	0.29037	0.420000	0.31355	1.343000	0.33930	0.617000	0.30160	0.388000	0.25769	TGC		0.577	IGFL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461698.1		NM_001002923	
KIAA2018	205717	broad.mit.edu;hgsc.bcm.edu	37	3	113379013	113379013	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3316-01A-01D-0966-08	TCGA-A3-3316-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1241cff-4071-482e-be5b-adb9c46a480a	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:113379013T>C	ENST00000478658.1	-	5	1533	c.1516A>G	c.(1516-1518)Atg>Gtg	p.M506V	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Missense_Mutation_p.M506V			Q68DE3	K2018_HUMAN	KIAA2018	506						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.M506V(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						AGTGGCTGCATAGGTAAAGAT	0.438																																																	1	Substitution - Missense(1)	kidney(1)											67.0	69.0	69.0					3																	113379013		1968	4164	6132	SO:0001583	missense	205717			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.1516A>G	3.37:g.113379013T>C	ENSP00000420721:p.Met506Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	37	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	T	5.686	0.311215	0.10789	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.14022	2.54;2.54	5.2	2.85	0.33270	.	0.184155	0.48767	D	0.000177	T	0.06234	0.0161	N	0.17082	0.46	0.34861	D	0.742646	B	0.02656	0.0	B	0.04013	0.001	T	0.30446	-0.9978	10	0.05721	T	0.95	-4.4271	7.5634	0.27864	0.0:0.2343:0.0:0.7657	.	506	Q68DE3	K2018_HUMAN	V	506	ENSP00000320794:M506V;ENSP00000420721:M506V	ENSP00000320794:M506V	M	-	1	0	KIAA2018	114861703	0.984000	0.35163	1.000000	0.80357	0.986000	0.74619	0.252000	0.18278	0.819000	0.34492	0.455000	0.32223	ATG		0.438	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1		NM_001009899	
LRRC30	339291	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	7232028	7232028	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3316-01A-01D-0966-08	TCGA-A3-3316-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1241cff-4071-482e-be5b-adb9c46a480a	57bb209a-9a43-48f4-8183-8350bee49508	g.chr18:7232028delA	ENST00000383467.2	+	1	906	c.892delA	c.(892-894)aaafs	p.K299fs		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	299										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CCTGAAGGACAAAAAACACAC	0.572																																																	0													93.0	101.0	99.0					18																	7232028		1928	4139	6067	SO:0001589	frameshift_variant	339291				CCDS42409.1	18p11.23	2005-01-06				ENSG00000206422			30219	protein-coding gene	gene with protein product							Standard	NM_001105581		Approved		uc010wzk.2	A6NM36		ENST00000383467.2:c.892delA	18.37:g.7232028delA	ENSP00000372959:p.Lys299fs	Somatic		WXS	Illumina HiSeq	Phase_I		Frame_Shift_Del	DEL	ENST00000383467.2	37	CCDS42409.1																																																																																				0.572	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442140.1		XM_292678	
MACF1	23499	broad.mit.edu;hgsc.bcm.edu	37	1	39934334	39934334	+	Silent	SNP	C	C	T	rs200044531		TCGA-A3-3316-01A-01D-0966-08	TCGA-A3-3316-11A-01D-0966-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	e1241cff-4071-482e-be5b-adb9c46a480a	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:39934334C>T	ENST00000372915.3	+	94	21585	c.21498C>T	c.(21496-21498)acC>acT	p.T7166T	MACF1_ENST00000539005.1_Silent_p.T5078T|MACF1_ENST00000545844.1_Silent_p.T5208T|MACF1_ENST00000289893.4_Silent_p.T5716T|MACF1_ENST00000361689.2_Silent_p.T5208T|MACF1_ENST00000317713.7_Silent_p.T5208T|MACF1_ENST00000567887.1_Silent_p.T7310T|MACF1_ENST00000564288.1_Silent_p.T7273T			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7166	C-terminal tail. {ECO:0000250}.|GAR. {ECO:0000255|PROSITE- ProRule:PRU00792}.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.T5208T(1)|p.T5716T(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGCGCAGCACCGTGATGGTTC	0.433													C|||	1	0.000199681	0.0	0.0	5008	,	,		15195	0.0		0.0	False		,,,				2504	0.001																2	Substitution - coding silent(2)	kidney(2)						C	,	0,4406		0,0,2203	118.0	113.0	114.0		15624,17148	-7.0	0.9	1		114	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	MACF1	NM_012090.4,NM_033044.3	,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	5208/5431,5716/5939	39934334	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.21498C>T	1.37:g.39934334C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.828|9.828	1.187637|1.187637	0.21870|0.21870	0.0|0.0	2.33E-4|2.33E-4	ENSG00000127603|ENSG00000127603	ENST00000360115;ENST00000442046|ENST00000372925;ENST00000446276	.|.	.|.	.|.	6.17|6.17	-7.0|-7.0	0.01599|0.01599	.|.	.|.	.|.	.|.	.|.	T|T	0.46946|0.46946	0.1419|0.1419	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.51172|0.51172	-0.8739|-0.8739	4|4	.|.	.|.	.|.	.|.	7.0641|7.0641	0.25141|0.25141	0.2078:0.5391:0.1147:0.1384|0.2078:0.5391:0.1147:0.1384	.|.	.|.	.|.	.|.	L|C	321;109|4212;196	.|.	.|.	P|R	+|+	2|1	0|0	MACF1|MACF1	39706921|39706921	0.000000|0.000000	0.05858|0.05858	0.925000|0.925000	0.36789|0.36789	0.991000|0.991000	0.79684|0.79684	-2.310000|-2.310000	0.01129|0.01129	-1.026000|-1.026000	0.03330|0.03330	-0.262000|-0.262000	0.10625|0.10625	CCG|CGT		0.433	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1		NM_033044	
MLX	6945	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	40720575	40720575	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3316-01A-01D-0966-08	TCGA-A3-3316-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1241cff-4071-482e-be5b-adb9c46a480a	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:40720575C>T	ENST00000246912.4	+	3	382	c.329C>T	c.(328-330)aCa>aTa	p.T110I	MLX_ENST00000346833.4_Intron|MLX_ENST00000435881.2_Missense_Mutation_p.T56I	NM_170607.2	NP_733752.1	Q9UH92	MLX_HUMAN	MLX, MAX dimerization protein	110					energy reserve metabolic process (GO:0006112)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|positive regulation of cellular metabolic process (GO:0031325)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.T110I(1)		kidney(3)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	10		all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148)		BRCA - Breast invasive adenocarcinoma(366;0.129)		GTCCCCAACACAGGTAGGCAG	0.542																																					GBM(121;657 1601 4665 24731 34640)												1	Substitution - Missense(1)	kidney(1)											113.0	113.0	113.0					17																	40720575		2203	4300	6503	SO:0001583	missense	6945			AF213668	CCDS11430.1, CCDS42341.1, CCDS45687.1	17q21.1	2013-05-21	2012-11-15	2005-02-11		ENSG00000108788		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	11645	protein-coding gene	gene with protein product		602976	"""transcription factor-like 4"", ""MAX-like protein X"""	TCFL4		8973301	Standard	NM_170607		Approved	MAD7, MXD7, bHLHd13	uc002iag.3	Q9UH92		ENST00000246912.4:c.329C>T	17.37:g.40720575C>T	ENSP00000246912:p.Thr110Ile	Somatic		WXS	Illumina HiSeq	Phase_I	A8K2J3|B2RAV8|B2RD73|Q53XM6|Q96FL2|Q9H2V0|Q9H2V1|Q9H2V2|Q9NXN3	Missense_Mutation	SNP	ENST00000246912.4	37	CCDS11430.1	.	.	.	.	.	.	.	.	.	.	C	32	5.167144	0.94768	.	.	ENSG00000108788	ENST00000246912;ENST00000435881	T;T	0.81163	-1.46;-1.2	5.53	5.53	0.82687	.	0.053189	0.85682	D	0.000000	D	0.83562	0.5281	L	0.58101	1.795	0.80722	D	1	P;D	0.53462	0.894;0.96	P;P	0.51229	0.473;0.663	T	0.80274	-0.1451	10	0.27082	T	0.32	-6.9821	19.2635	0.93977	0.0:1.0:0.0:0.0	.	110;56	Q9UH92;Q9UH92-3	MLX_HUMAN;.	I	110;56	ENSP00000246912:T110I;ENSP00000416627:T56I	ENSP00000246912:T110I	T	+	2	0	MLX	37974101	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.541000	0.82084	2.882000	0.98803	0.655000	0.94253	ACA		0.542	MLX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450415.1		NM_170607	
MTMR10	54893	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	31282988	31282988	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3316-01A-01D-0966-08	TCGA-A3-3316-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1241cff-4071-482e-be5b-adb9c46a480a	57bb209a-9a43-48f4-8183-8350bee49508	g.chr15:31282988A>C	ENST00000435680.1	-	2	210	c.113T>G	c.(112-114)cTt>cGt	p.L38R	MTMR10_ENST00000425768.1_Missense_Mutation_p.L38R|MTMR10_ENST00000563714.1_5'UTR	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	38							phosphatase activity (GO:0016791)	p.L38R(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		ACCTGGCAAAAGGACTGGCTC	0.373																																																	1	Substitution - Missense(1)	kidney(1)											102.0	102.0	102.0					15																	31282988		1830	4086	5916	SO:0001583	missense	54893			AK000320	CCDS45204.1	15q13.3	2011-06-09				ENSG00000166912		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	25999	protein-coding gene	gene with protein product						12495846	Standard	NM_017762		Approved	FLJ20313	uc001zfh.1	Q9NXD2		ENST00000435680.1:c.113T>G	15.37:g.31282988A>C	ENSP00000402537:p.Leu38Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q6P4Q6	Missense_Mutation	SNP	ENST00000435680.1	37	CCDS45204.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.096625	0.76870	.	.	ENSG00000166912	ENST00000435680;ENST00000425768	D;D	0.84660	-1.88;-1.88	4.91	4.91	0.64330	.	.	.	.	.	D	0.85986	0.5825	M	0.69358	2.11	0.80722	D	1	P	0.50443	0.935	P	0.48114	0.567	D	0.87491	0.2427	9	0.87932	D	0	.	11.2251	0.48880	1.0:0.0:0.0:0.0	.	38	Q9NXD2	MTMRA_HUMAN	R	38	ENSP00000402537:L38R;ENSP00000412314:L38R	ENSP00000412314:L38R	L	-	2	0	MTMR10	29070280	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	4.952000	0.63618	1.959000	0.56917	0.459000	0.35465	CTT		0.373	MTMR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430747.1		NM_017762	
MUC4	4585	hgsc.bcm.edu	37	3	195505788	195505788	+	Missense_Mutation	SNP	G	G	C	rs554846023	byFrequency	TCGA-A3-3316-01A-01D-0966-08	TCGA-A3-3316-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1241cff-4071-482e-be5b-adb9c46a480a	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:195505788G>C	ENST00000463781.3	-	2	13122	c.12663C>G	c.(12661-12663)caC>caG	p.H4221Q	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4221Q|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	978					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.592													.|||	718	0.143371	0.0855	0.1499	5008	,	,		14536	0.2044		0.1531	False		,,,				2504	0.1442																0													26.0	27.0	26.0					3																	195505788		2084	4173	6257	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12663C>G	3.37:g.195505788G>C	ENSP00000417498:p.His4221Gln	Somatic		WXS	Illumina HiSeq	Phase_I	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	0.204	-1.042067	0.01997	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.29917	1.57;1.55	1.25	-2.51	0.06365	.	.	.	.	.	T	0.10766	0.0263	N	0.08118	0	0.80722	P	0.0	B	0.12013	0.005	B	0.04013	0.001	T	0.11372	-1.0590	7	.	.	.	.	0.3857	0.00402	0.2031:0.2442:0.1662:0.3865	rs2550253;rs59520969	4093	E7ESK3	.	Q	4221	ENSP00000417498:H4221Q;ENSP00000420243:H4221Q	.	H	-	3	2	MUC4	196990567	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.112000	0.03299	-3.693000	0.00120	-1.904000	0.00526	CAC		0.592	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
NNT	23530	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	43677827	43677827	+	Splice_Site	SNP	G	G	A			TCGA-A3-3316-01A-01D-0966-08	TCGA-A3-3316-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1241cff-4071-482e-be5b-adb9c46a480a	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:43677827G>A	ENST00000264663.5	+	19	3016	c.2795G>A	c.(2794-2796)gGc>gAc	p.G932D	NNT_ENST00000512996.2_Splice_Site_p.G801D|NNT_ENST00000344920.4_Splice_Site_p.G932D	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	932					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.G932D(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)					TTCCTTGCAGGCTATGGTCTC	0.398																																																	1	Substitution - Missense(1)	kidney(1)											148.0	142.0	144.0					5																	43677827		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.2795-1G>A	5.37:g.43677827G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	ENST00000264663.5	37	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.598161	0.87055	.	.	ENSG00000112992	ENST00000542759;ENST00000264663;ENST00000344920;ENST00000512996	D;D;D	0.97016	-4.21;-4.21;-4.21	5.19	5.19	0.71726	.	0.044361	0.85682	D	0.000000	D	0.98982	0.9653	H	0.98238	4.18	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99289	1.0898	9	.	.	.	.	19.1306	0.93404	0.0:0.0:1.0:0.0	.	932	Q13423	NNTM_HUMAN	D	447;932;932;801	ENSP00000264663:G932D;ENSP00000343873:G932D;ENSP00000426343:G801D	.	G	+	2	0	NNT	43713584	1.000000	0.71417	0.879000	0.34478	0.857000	0.48899	9.270000	0.95690	2.584000	0.87258	0.558000	0.71614	GGC		0.398	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1		NM_182977	Missense_Mutation
PBRM1	55193	hgsc.bcm.edu;ucsc.edu	37	3	52588839	52588839	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3316-01A-01D-0966-08	TCGA-A3-3316-11A-01D-0966-08	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	e1241cff-4071-482e-be5b-adb9c46a480a	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:52588839delG	ENST00000296302.7	-	27	4511	c.4510delC	c.(4510-4512)cttfs	p.L1504fs	PBRM1_ENST00000356770.4_Frame_Shift_Del_p.L1417fs|PBRM1_ENST00000409767.1_Intron|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.L1424fs|PBRM1_ENST00000409114.3_Intron|PBRM1_ENST00000337303.4_Intron|RNU6-856P_ENST00000516959.1_RNA|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.L1397fs|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.L1449fs			Q86U86	PB1_HUMAN	polybromo 1	1504	Pro-rich.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ATGCTAACAAGGCCATCAACT	0.597			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	0													54.0	54.0	54.0					3																	52588839		2203	4300	6503	SO:0001589	frameshift_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.4510delC	3.37:g.52588839delG	ENSP00000296302:p.Leu1504fs	Somatic		WXS	Illumina HiSeq	Phase_I	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37																																																																																					0.597	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165	
PEG3	5178	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	57335855	57335855	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3316-01A-01D-0966-08	TCGA-A3-3316-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1241cff-4071-482e-be5b-adb9c46a480a	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:57335855A>T	ENST00000326441.9	-	4	532	c.169T>A	c.(169-171)Ttt>Att	p.F57I	PEG3_ENST00000593695.1_Intron|ZIM2_ENST00000599935.1_5'UTR|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Intron|ZIM2_ENST00000593931.1_5'Flank|ZIM2_ENST00000391708.3_5'UTR|PEG3_ENST00000594706.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.F57I	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	57	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.F57I(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GGCCCAACAAATTCCACATAG	0.502																																																	2	Substitution - Missense(2)	kidney(2)											80.0	79.0	80.0					19																	57335855		2203	4300	6503	SO:0001583	missense	5178			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.169T>A	19.37:g.57335855A>T	ENSP00000326581:p.Phe57Ile	Somatic		WXS	Illumina HiSeq	Phase_I	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.940712	0.73557	.	.	ENSG00000198300	ENST00000326441;ENST00000423103;ENST00000292074	T;T	0.04083	3.71;3.71	5.05	1.48	0.22813	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.363557	0.20365	N	0.093768	T	0.02193	0.0068	N	0.22421	0.69	.	.	.	P	0.39862	0.692	B	0.28232	0.087	T	0.43410	-0.9393	9	0.15952	T	0.53	-12.0807	5.2426	0.15479	0.5551:0.3511:0.0938:0.0	.	57	Q9GZU2	PEG3_HUMAN	I	57	ENSP00000326581:F57I;ENSP00000403051:F57I	ENSP00000292074:F57I	F	-	1	0	ZIM2	62027667	0.000000	0.05858	0.892000	0.35008	0.989000	0.77384	0.206000	0.17375	0.424000	0.26061	0.533000	0.62120	TTT		0.502	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			
PRDM16	63976	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	3102700	3102700	+	Missense_Mutation	SNP	G	G	A	rs183153140	byFrequency	TCGA-A3-3316-01A-01D-0966-08	TCGA-A3-3316-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1241cff-4071-482e-be5b-adb9c46a480a	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:3102700G>A	ENST00000270722.5	+	2	98	c.49G>A	c.(49-51)Gtt>Att	p.V17I	PRDM16_ENST00000378398.3_Missense_Mutation_p.V17I|PRDM16_ENST00000378391.2_Missense_Mutation_p.V17I|PRDM16_ENST00000442529.2_Missense_Mutation_p.V17I|PRDM16_ENST00000511072.1_Missense_Mutation_p.V17I|PRDM16_ENST00000514189.1_Missense_Mutation_p.V17I|PRDM16_ENST00000441472.2_Missense_Mutation_p.V17I			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	17					brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)	p.V17I(1)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		TGACGGTGACGTTGTAAATAA	0.627			T	EVI1	"""MDS, AML"""								g|||	6	0.00119808	0.0045	0.0	5008	,	,		16707	0.0		0.0	False		,,,				2504	0.0							Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	1	Substitution - Missense(1)	kidney(1)						A	ILE/VAL,ILE/VAL	13,4335		0,13,2161	44.0	56.0	52.0		49,49	-4.7	0.9	1		52	0,8508		0,0,4254	yes	missense,missense	PRDM16	NM_022114.3,NM_199454.2	29,29	0,13,6415	AA,AG,GG		0.0,0.299,0.1011	benign,benign	17/1277,17/1258	3102700	13,12843	2174	4254	6428	SO:0001583	missense	63976			AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.49G>A	1.37:g.3102700G>A	ENSP00000270722:p.Val17Ile	Somatic		WXS	Illumina HiSeq	Phase_I	A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP	ENST00000270722.5	37	CCDS41236.2	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	g	8.338	0.828058	0.16749	0.00299	0.0	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722	T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55	5.1	-4.66	0.03329	.	0.839624	0.09660	N	0.772636	T	0.08403	0.0209	N	0.12182	0.205	0.20703	N	0.999867	B;B;B;B	0.06786	0.001;0.001;0.0;0.001	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.38351	-0.9665	10	0.02654	T	1	.	9.2361	0.37466	0.6627:0.0999:0.2374:0.0	.	17;17;17;17	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	I	17	ENSP00000426975:V17I;ENSP00000367651:V17I;ENSP00000407968:V17I;ENSP00000405253:V17I;ENSP00000367643:V17I;ENSP00000421400:V17I;ENSP00000270722:V17I	ENSP00000270722:V17I	V	+	1	0	PRDM16	3092560	0.120000	0.22244	0.894000	0.35097	0.851000	0.48451	-0.629000	0.05508	-1.253000	0.02488	-0.927000	0.02713	GTT		0.627	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3		NM_022114	
PTEN	5728	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	89711891	89711891	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3316-01A-01D-0966-08	TCGA-A3-3316-11A-01D-0966-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	e1241cff-4071-482e-be5b-adb9c46a480a	57bb209a-9a43-48f4-8183-8350bee49508	g.chr10:89711891G>A	ENST00000371953.3	+	6	1866	c.509G>A	c.(508-510)aGt>aAt	p.S170N		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	170	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		S -> N (loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|S -> R (in BRRS; severely reduced protein phosphatase activity; loss of phosphatase activity towards Ins(1,3,4,5)P4). {ECO:0000269|PubMed:10400993, ECO:0000269|PubMed:11494117, ECO:0000269|PubMed:9241266}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.S170N(6)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.S170I(3)|p.Y27fs*1(2)|p.V166fs*10(1)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ACTATTCCCAGTCAGAGGCGC	0.353		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	65	Whole gene deletion(37)|Deletion - Frameshift(10)|Substitution - Missense(9)|Complex - frameshift(4)|Unknown(4)|Deletion - In frame(1)	central_nervous_system(18)|prostate(16)|skin(8)|endometrium(6)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|biliary_tract(1)|soft_tissue(1)|urinary_tract(1)|kidney(1)											121.0	124.0	123.0					10																	89711891		2203	4300	6503	SO:0001583	missense	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.509G>A	10.37:g.89711891G>A	ENSP00000361021:p.Ser170Asn	Somatic		WXS	Illumina HiSeq	Phase_I	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	32	5.140552	0.94560	.	.	ENSG00000171862	ENST00000371953	D	0.98822	-5.16	5.74	5.74	0.90152	Phosphatase tensin type (1);	0.077988	0.85682	D	0.000000	D	0.99489	0.9818	H	0.96489	3.83	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.98342	1.0539	9	.	.	.	-3.8658	19.9308	0.97118	0.0:0.0:1.0:0.0	.	170	P60484	PTEN_HUMAN	N	170	ENSP00000361021:S170N	.	S	+	2	0	PTEN	89701871	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.370000	0.97159	2.722000	0.93159	0.591000	0.81541	AGT		0.353	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1		NM_000314	
RASGEF1B	153020	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	82355851	82355851	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3316-01A-01D-0966-08	TCGA-A3-3316-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1241cff-4071-482e-be5b-adb9c46a480a	57bb209a-9a43-48f4-8183-8350bee49508	g.chr4:82355851A>G	ENST00000264400.2	-	11	1293	c.1142T>C	c.(1141-1143)aTt>aCt	p.I381T	RASGEF1B_ENST00000509081.1_Missense_Mutation_p.I380T|RASGEF1B_ENST00000335927.7_Missense_Mutation_p.I339T	NM_152545.1	NP_689758.1	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	381	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	endosome (GO:0005768)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.I381T(1)		endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						GAGGAAATAAATATCTTTGAT	0.373																																																	1	Substitution - Missense(1)	kidney(1)											68.0	64.0	65.0					4																	82355851		2203	4300	6503	SO:0001583	missense	153020			AK056257	CCDS34022.1, CCDS75151.1, CCDS75152.1	4q21.21	2013-09-24				ENSG00000138670			24881	protein-coding gene	gene with protein product		614532				12488504	Standard	XM_005262776		Approved	GPIG4, FLJ31695	uc003hmi.1	Q0VAM2		ENST00000264400.2:c.1142T>C	4.37:g.82355851A>G	ENSP00000264400:p.Ile381Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q0VAM1|Q4W5L7|Q4W5M3|Q96MY8	Missense_Mutation	SNP	ENST00000264400.2	37	CCDS34022.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.264635	0.80358	.	.	ENSG00000138670	ENST00000509081;ENST00000264400;ENST00000335927;ENST00000504863	T;T;T;T	0.34472	1.36;1.36;1.36;1.36	4.62	4.62	0.57501	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine-nucleotide exchange factor, conserved site (1);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.62122	0.2402	M	0.84683	2.71	0.80722	D	1	P;D;D	0.63046	0.935;0.99;0.992	P;D;D	0.67900	0.738;0.948;0.954	T	0.69749	-0.5061	10	0.87932	D	0	.	13.8491	0.63485	1.0:0.0:0.0:0.0	.	339;380;381	Q0VAM2-2;Q0VAM2-3;Q0VAM2	.;.;RGF1B_HUMAN	T	380;381;339;226	ENSP00000425393:I380T;ENSP00000264400:I381T;ENSP00000338437:I339T;ENSP00000426929:I226T	ENSP00000264400:I381T	I	-	2	0	RASGEF1B	82574875	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.685000	0.91246	1.954000	0.56735	0.477000	0.44152	ATT		0.373	RASGEF1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362830.1		NM_152545	
RIMBP2	23504	broad.mit.edu;ucsc.edu	37	12	130926846	130926846	+	Missense_Mutation	SNP	C	C	T	rs141970284		TCGA-A3-3316-01A-01D-0966-08	TCGA-A3-3316-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1241cff-4071-482e-be5b-adb9c46a480a	57bb209a-9a43-48f4-8183-8350bee49508	g.chr12:130926846C>T	ENST00000261655.4	-	8	1163	c.1000G>A	c.(1000-1002)Gtc>Atc	p.V334I	RIMBP2_ENST00000536002.1_Missense_Mutation_p.V242I|RIMBP2_ENST00000535703.1_Missense_Mutation_p.V242I	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	334	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.V334I(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TCCACCAGGACGTTGTAGCTG	0.562																																																	1	Substitution - Missense(1)	kidney(1)							ILE/VAL	0,4406		0,0,2203	185.0	171.0	176.0		1000	4.3	0.8	12	dbSNP_134	176	1,8599	1.2+/-3.3	0,1,4299	no	missense	RIMBP2	NM_015347.4	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	334/1053	130926846	1,13005	2203	4300	6503	SO:0001583	missense	23504			AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.1000G>A	12.37:g.130926846C>T	ENSP00000261655:p.Val334Ile	Somatic		WXS	Illumina GAIIx	Phase_I	Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	c	15.29	2.788631	0.49997	0.0	1.16E-4	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.57273	0.41;0.41;0.41	4.27	4.27	0.50696	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.54935	0.1889	L	0.35341	1.055	0.53005	D	0.999968	P;D	0.76494	0.893;0.999	B;D	0.71184	0.369;0.972	T	0.47947	-0.9077	10	0.12430	T	0.62	-32.0817	10.4012	0.44231	0.0:0.9086:0.0:0.0914	.	242;334	O15034-2;O15034	.;RIMB2_HUMAN	I	334;242;242;242	ENSP00000261655:V334I;ENSP00000440347:V242I;ENSP00000439159:V242I	ENSP00000261655:V334I	V	-	1	0	RIMBP2	129492799	1.000000	0.71417	0.759000	0.31340	0.790000	0.44656	6.042000	0.70996	1.907000	0.55213	0.431000	0.28591	GTC		0.562	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1		NM_015347	
TUBGCP6	85378	hgsc.bcm.edu	37	22	50655685	50655686	+	IGR	INS	-	-	C			TCGA-A3-3316-01A-01D-0966-08	TCGA-A3-3316-11A-01D-0966-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1241cff-4071-482e-be5b-adb9c46a480a	57bb209a-9a43-48f4-8183-8350bee49508	g.chr22:50655685_50655686insC	ENST00000248846.5	-	0	5612				SELO_ENST00000492092.1_3'UTR|TUBGCP6_ENST00000491449.1_5'Flank|SELO_ENST00000380903.2_Frame_Shift_Ins_p.A633fs			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6						G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CGAGGCGGGGGCCGCCACAGAC	0.698																																																	0																																										SO:0001628	intergenic_variant	83642			AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150		22.37:g.50655687_50655687dupC		Somatic		WXS	Illumina HiSeq	Phase_I	Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Frame_Shift_Ins	INS	ENST00000248846.5	37	CCDS14087.1																																																																																				0.698	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3		NM_020461	
SMCHD1	23347	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	2722637	2722637	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3316-01A-01D-0966-08	TCGA-A3-3316-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1241cff-4071-482e-be5b-adb9c46a480a	57bb209a-9a43-48f4-8183-8350bee49508	g.chr18:2722637A>G	ENST00000320876.6	+	20	2917	c.2579A>G	c.(2578-2580)gAt>gGt	p.D860G	SMCHD1_ENST00000261598.8_Missense_Mutation_p.D860G|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	860					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)	p.D860G(2)|p.D308G(1)		NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						CTAGTAACTGATATTCAGCCA	0.348																																																	3	Substitution - Missense(3)	kidney(3)											186.0	174.0	178.0					18																	2722637		1845	4091	5936	SO:0001583	missense	23347			AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.2579A>G	18.37:g.2722637A>G	ENSP00000326603:p.Asp860Gly	Somatic		WXS	Illumina HiSeq	Phase_I	O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	A	19.70	3.876680	0.72180	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.26067	1.76;1.76	5.36	5.36	0.76844	.	0.106097	0.64402	D	0.000010	T	0.15652	0.0377	N	0.14661	0.345	0.33360	D	0.572201	B	0.19706	0.038	B	0.11329	0.006	T	0.12553	-1.0543	10	0.38643	T	0.18	-13.188	11.5855	0.50916	0.928:0.0:0.072:0.0	.	860	A6NHR9	SMHD1_HUMAN	G	860	ENSP00000326603:D860G;ENSP00000261598:D860G	ENSP00000261598:D860G	D	+	2	0	SMCHD1	2712637	0.999000	0.42202	0.998000	0.56505	0.999000	0.98932	2.538000	0.45710	2.147000	0.66899	0.533000	0.62120	GAT		0.348	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			
SPTBN5	51332	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	42173407	42173407	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3316-01A-01D-0966-08	TCGA-A3-3316-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1241cff-4071-482e-be5b-adb9c46a480a	57bb209a-9a43-48f4-8183-8350bee49508	g.chr15:42173407C>G	ENST00000320955.6	-	13	2710	c.2483G>C	c.(2482-2484)gGa>gCa	p.G828A		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	828					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)	p.G828A(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CAGGCTTTCTCCTGGAGGGCT	0.652																																																	1	Substitution - Missense(1)	kidney(1)											44.0	48.0	46.0					15																	42173407		1978	4152	6130	SO:0001583	missense	51332			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.2483G>C	15.37:g.42173407C>G	ENSP00000317790:p.Gly828Ala	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000320955.6	37		.	.	.	.	.	.	.	.	.	.	.	6.424	0.446354	0.12223	.	.	ENSG00000137877	ENST00000320955	T	0.70399	-0.48	4.48	1.33	0.21861	.	0.977000	0.08372	N	0.955918	T	0.47266	0.1436	N	0.19112	0.55	0.09310	N	1	B	0.32918	0.39	B	0.24541	0.054	T	0.22556	-1.0213	10	0.12766	T	0.61	.	5.8549	0.18714	0.0:0.64:0.0:0.36	.	828	Q9NRC6	SPTN5_HUMAN	A	828	ENSP00000317790:G828A	ENSP00000317790:G828A	G	-	2	0	SPTBN5	39960699	0.000000	0.05858	0.001000	0.08648	0.511000	0.34104	0.055000	0.14229	0.252000	0.21531	0.462000	0.41574	GGA		0.652	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1		NM_016642	
ZC3H11A	9877	broad.mit.edu;hgsc.bcm.edu	37	1	203816426	203816426	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3316-01A-01D-0966-08	TCGA-A3-3316-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1241cff-4071-482e-be5b-adb9c46a480a	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:203816426C>A	ENST00000545588.1	+	12	4984	c.1157C>A	c.(1156-1158)tCa>tAa	p.S386*	ZC3H11A_ENST00000332127.4_Nonsense_Mutation_p.S386*|ZC3H11A_ENST00000367214.1_Nonsense_Mutation_p.S386*|ZC3H11A_ENST00000367210.1_Nonsense_Mutation_p.S386*|ZC3H11A_ENST00000367212.3_Nonsense_Mutation_p.S386*	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	386					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.S386*(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GAAGGACCTTCAAAAACTGAT	0.423																																																	1	Substitution - Nonsense(1)	kidney(1)											48.0	49.0	49.0					1																	203816426		2203	4300	6503	SO:0001587	stop_gained	9877				CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.1157C>A	1.37:g.203816426C>A	ENSP00000438527:p.Ser386*	Somatic		WXS	Illumina HiSeq	Phase_I	Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Nonsense_Mutation	SNP	ENST00000545588.1	37	CCDS30978.1	.	.	.	.	.	.	.	.	.	.	C	39	7.738175	0.98462	.	.	ENSG00000058673	ENST00000453771;ENST00000367214;ENST00000537080;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210	.	.	.	5.65	1.3	0.21679	.	0.865325	0.10275	N	0.694256	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-29.2693	4.3455	0.11131	0.144:0.3761:0.3938:0.0861	.	.	.	.	X	386;386;332;386;386;386;386	.	ENSP00000333253:S386X	S	+	2	0	ZC3H11A	202083049	0.109000	0.22037	0.998000	0.56505	0.997000	0.91878	1.189000	0.32114	1.351000	0.45789	0.650000	0.86243	TCA		0.423	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3		NM_014827	
ZNF280C	55609	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	129343630	129343631	+	Missense_Mutation	DNP	AG	AG	TA			TCGA-A3-3316-01A-01D-0966-08	TCGA-A3-3316-11A-01D-0966-08	A|G	A|G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1241cff-4071-482e-be5b-adb9c46a480a	57bb209a-9a43-48f4-8183-8350bee49508	g.chrX:129343630_129343631AG>TA	ENST00000370978.4	-	16	2191_2192	c.2038_2039CT>TA	c.(2038-2040)CTc>TAc	p.L680Y		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	680					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.L680Y(1)|p.L680H(1)|p.L680F(1)		endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						TGATTACCTGAGAGTTCCTGAA	0.322																																																	3	Substitution - Missense(3)	kidney(3)																																								SO:0001583	missense	55609			AL834333	CCDS14622.1	Xq25	2008-05-02	2007-09-20	2007-09-20	ENSG00000056277	ENSG00000056277			25955	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 3 (Drosophila)"""	SUHW3		12477932	Standard	NM_017666		Approved	FLJ20095, ZNF633	uc004evm.3	Q8ND82	OTTHUMG00000022393	ENST00000370978.4:c.2038_2039delinsTA	X.37:g.129343630_129343631delinsTA	ENSP00000360017:p.Leu680Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	A8K2V8|Q9NXR3	Missense_Mutation	SNP	ENST00000370978.4	37	CCDS14622.1																																																																																				0.322	ZNF280C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058251.1		NM_017666	
CACNG8	59283	broad.mit.edu	37	19	54483190	54483190	+	Missense_Mutation	SNP	T	T	G	rs202244345	byFrequency	TCGA-A3-3316-01A-01D-0966-08	TCGA-A3-3316-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1241cff-4071-482e-be5b-adb9c46a480a	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:54483190T>G	ENST00000270458.2	+	3	540	c.437T>G	c.(436-438)gTg>gGg	p.V146G	MIR935_ENST00000401179.1_RNA	NM_031895.5	NP_114101	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	146					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.V146G(2)		kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		GGTGTGTGCGTGGCGGCCTCC	0.647																																																	2	Substitution - Missense(2)	urinary_tract(1)|kidney(1)											34.0	35.0	35.0					19																	54483190		2203	4300	6503	SO:0001583	missense	59283			AF288388	CCDS33104.1	19q13.4	2008-05-02			ENSG00000142408	ENSG00000142408		"""Calcium channel subunits"""	13628	protein-coding gene	gene with protein product		606900				11170751	Standard	NM_031895		Approved		uc002qcs.2	Q8WXS5	OTTHUMG00000064908	ENST00000270458.2:c.437T>G	19.37:g.54483190T>G	ENSP00000270458:p.Val146Gly	Somatic		WXS	Illumina GAIIx	Phase_I	Q9BXT0|Q9BY23	Missense_Mutation	SNP	ENST00000270458.2	37	CCDS33104.1	.	.	.	.	.	.	.	.	.	.	.	26.5	4.741359	0.89573	.	.	ENSG00000142408	ENST00000270458	D	0.89415	-2.51	4.53	4.53	0.55603	.	0.191865	0.32671	U	0.005796	D	0.90947	0.7154	L	0.39633	1.23	0.32725	N	0.509773	D	0.76494	0.999	D	0.73380	0.98	D	0.93456	0.6806	9	0.72032	D	0.01	4.3012	12.2158	0.54406	0.0:0.0:0.0:1.0	.	146	Q8WXS5	CCG8_HUMAN	G	146	ENSP00000270458:V146G	ENSP00000270458:V146G	V	+	2	0	CACNG8	59175002	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.508000	0.81686	1.851000	0.53745	0.434000	0.28630	GTG		0.647	CACNG8-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139361.3			
DNAH11	8701	broad.mit.edu	37	7	21908580	21908580	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3316-01A-01D-0966-08	TCGA-A3-3316-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1241cff-4071-482e-be5b-adb9c46a480a	57bb209a-9a43-48f4-8183-8350bee49508	g.chr7:21908580T>C	ENST00000409508.3	+	73	11969	c.11938T>C	c.(11938-11940)Tcc>Ccc	p.S3980P	DNAH11_ENST00000328843.6_Missense_Mutation_p.S3987P	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3987	AAA 6. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.S3987P(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GGAGAAAGCTTCCAAAGGAGG	0.517									Kartagener syndrome																																								1	Substitution - Missense(1)	kidney(1)											73.0	72.0	72.0					7																	21908580		1952	4155	6107	SO:0001583	missense	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.11938T>C	7.37:g.21908580T>C	ENSP00000475939:p.Ser3980Pro	Somatic		WXS	Illumina GAIIx	Phase_I	Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37		.	.	.	.	.	.	.	.	.	.	T	18.00	3.524335	0.64747	.	.	ENSG00000105877	ENST00000328843	T	0.09073	3.02	5.41	2.92	0.33932	Dynein heavy chain (1);	0.231883	0.45606	D	0.000353	T	0.18800	0.0451	.	.	.	0.29420	N	0.860619	D	0.53312	0.959	P	0.57204	0.815	T	0.02553	-1.1142	9	0.36615	T	0.2	.	13.9093	0.63857	0.0:0.0:0.6054:0.3946	.	3987	Q96DT5	DYH11_HUMAN	P	3987	ENSP00000330671:S3987P	ENSP00000330671:S3987P	S	+	1	0	DNAH11	21875105	0.997000	0.39634	0.381000	0.26106	0.957000	0.61999	1.641000	0.37197	0.310000	0.22990	0.472000	0.43445	TCC		0.517	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6		NM_003777	
DOPEY2	9980	broad.mit.edu	37	21	37653892	37653892	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3316-01A-01D-0966-08	TCGA-A3-3316-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1241cff-4071-482e-be5b-adb9c46a480a	57bb209a-9a43-48f4-8183-8350bee49508	g.chr21:37653892A>C	ENST00000399151.3	+	32	6228	c.6143A>C	c.(6142-6144)tAc>tCc	p.Y2048S		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	2048					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)		p.Y2048S(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TACCACCTTTACCTTCCACTG	0.378																																																	2	Substitution - Missense(2)	kidney(2)											74.0	73.0	73.0					21																	37653892		2203	4300	6503	SO:0001583	missense	9980			AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.6143A>C	21.37:g.37653892A>C	ENSP00000382104:p.Tyr2048Ser	Somatic		WXS	Illumina GAIIx	Phase_I	D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	ENST00000399151.3	37	CCDS13643.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.313454	0.81358	.	.	ENSG00000142197	ENST00000399151	T	0.52057	0.68	5.42	5.42	0.78866	.	0.061947	0.64402	D	0.000003	T	0.70325	0.3211	M	0.83012	2.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.71368	-0.4614	10	0.33940	T	0.23	-10.9093	15.4962	0.75653	1.0:0.0:0.0:0.0	.	2041;2048	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	S	2048	ENSP00000382104:Y2048S	ENSP00000382104:Y2048S	Y	+	2	0	DOPEY2	36575762	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.892000	0.75644	2.058000	0.61347	0.533000	0.62120	TAC		0.378	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1		NM_005128	
FNBP4	23360	broad.mit.edu	37	11	47788664	47788669	+	In_Frame_Del	DEL	GGTGGT	GGTGGT	-	rs59413596|rs67450550|rs397711020	byFrequency	TCGA-A3-3316-01A-01D-0966-08	TCGA-A3-3316-11A-01D-0966-08	GGTGGT	GGTGGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1241cff-4071-482e-be5b-adb9c46a480a	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:47788664_47788669delGGTGGT	ENST00000263773.5	-	1	184_189	c.172_177delACCACC	c.(172-177)accaccdel	p.TT58del	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	58						nucleus (GO:0005634)		p.T58_T59delTT(3)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						CAGTCACCGCGGTGGTGGTGGTCGTC	0.748														1722	0.34385	0.084	0.317	5008	,	,		12964	0.4345		0.4304	False		,,,				2504	0.5317																3	Deletion - In frame(3)	prostate(1)|breast(1)|central_nervous_system(1)								233,2043		62,109,967						-2.3	0.0		dbSNP_130	3	1924,3380		655,614,1383	no	coding	FNBP4	NM_015308.2		717,723,2350	A1A1,A1R,RR		36.2745,10.2373,28.4565				2157,5423				SO:0001651	inframe_deletion	23360			BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.172_177delACCACC	11.37:g.47788670_47788675delGGTGGT	ENSP00000263773:p.Thr58_Thr59del	Somatic		WXS	Illumina GAIIx	Phase_I	Q9H985|Q9NT81|Q9Y2L7	In_Frame_Del	DEL	ENST00000263773.5	37	CCDS41644.1																																																																																				0.748	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3			
SPTBN2	6712	broad.mit.edu	37	11	66472256	66472256	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3316-01A-01D-0966-08	TCGA-A3-3316-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1241cff-4071-482e-be5b-adb9c46a480a	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:66472256C>A	ENST00000533211.1	-	15	2822	c.2491G>T	c.(2491-2493)Gag>Tag	p.E831*	SPTBN2_ENST00000529997.1_Nonsense_Mutation_p.E831*|SPTBN2_ENST00000309996.2_Nonsense_Mutation_p.E831*			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	831					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)	p.E831*(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TAGTGCCGCTCCAGGGTGGGC	0.731																																																	1	Substitution - Nonsense(1)	kidney(1)											10.0	11.0	11.0					11																	66472256		2180	4252	6432	SO:0001587	stop_gained	6712			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.2491G>T	11.37:g.66472256C>A	ENSP00000432568:p.Glu831*	Somatic		WXS	Illumina GAIIx	Phase_I	O14872|O14873	Nonsense_Mutation	SNP	ENST00000533211.1	37	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	C	39	7.621326	0.98393	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	.	.	.	4.97	4.05	0.47172	.	0.060930	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	12.5396	0.56161	0.0:0.9174:0.0:0.0825	.	.	.	.	X	831	.	ENSP00000311489:E831X	E	-	1	0	SPTBN2	66228832	0.996000	0.38824	0.999000	0.59377	0.108000	0.19459	3.822000	0.55708	1.310000	0.45006	0.591000	0.81541	GAG		0.731	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2		NM_006946	
ZDHHC19	131540	broad.mit.edu	37	3	195934301	195934301	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3316-01A-01D-0966-08	TCGA-A3-3316-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1241cff-4071-482e-be5b-adb9c46a480a	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:195934301delC	ENST00000296326.3	-	5	734	c.655delG	c.(655-657)gtgfs	p.V219fs	ZDHHC19_ENST00000488508.1_5'Flank	NM_001039617.1	NP_001034706.1	Q8WVZ1	ZDH19_HUMAN	zinc finger, DHHC-type containing 19	219						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		GCCGAGCTCACGGACAGTGCC	0.706																																																	0													13.0	20.0	18.0					3																	195934301		2128	4206	6334	SO:0001589	frameshift_variant	131540			BC022078	CCDS43190.1	3q29	2008-05-02			ENSG00000163958	ENSG00000163958		"""Zinc fingers, DHHC-type"""	20713	protein-coding gene	gene with protein product							Standard	XR_246038		Approved	MGC33345	uc003fwc.3	Q8WVZ1	OTTHUMG00000133642	ENST00000296326.3:c.655delG	3.37:g.195934301delC	ENSP00000296326:p.Val219fs	Somatic		WXS	Illumina GAIIx	Phase_I	A8MSY6|B3KVI1	Frame_Shift_Del	DEL	ENST00000296326.3	37	CCDS43190.1																																																																																				0.706	ZDHHC19-007	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341533.1		NM_144637	
