#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_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_Chromosome_hg18	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_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_classification	i_context	i_dataset	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_refseq_mrna_id	i_secondary_variant_classification	i_type
VPS13D	55187	broad.mit.edu	37	1	12403079	12403079	+	Missense_Mutation	SNP	A	A	C			TCGA-24-1419-01	TCGA-24-1419-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1419-01	TCGA-24-1419-10	g.chr1:12403079A>C	ENST00000358136.3	+	42	8986	c.8856A>C	c.(8854-8856)gaA>gaC	p.E2952D	VPS13D_ENST00000356315.4_Missense_Mutation_p.E2927D	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.E2952D(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TTCCCTTTGAATTTGAAGCAA	0.398																																																1	Substitution - Missense(1)	ovary(1)	1											94.0	87.0	89.0					1																	12403079		2203	4300	6503	12325666	SO:0001583	missense	55187			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.8856A>C	1.37:g.12403079A>C	ENSP00000350854:p.Glu2952Asp		12325666		Missense_Mutation	SNP	ENST00000358136.3	37	CCDS30588.1	SNP	4	Broad	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.11|15.11	2.736192|2.736192	0.49045|0.49045	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000356315;ENST00000358136|ENST00000011700	T;T|.	0.50813|.	0.73;0.73|.	5.52|5.52	3.16|3.16	0.36331|0.36331	.|.	0.046538|.	0.85682|.	D|.	0.000000|.	T|T	0.38506|0.38506	0.1043|0.1043	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	B;B|.	0.12013|.	0.005;0.003|.	B;B|.	0.20384|.	0.029;0.006|.	T|T	0.06789|0.06789	-1.0807|-1.0807	10|5	0.26408|.	T|.	0.33|.	.|.	8.1306|8.1306	0.31024|0.31024	0.7131:0.0:0.2869:0.0|0.7131:0.0:0.2869:0.0	.|.	2927;2951|.	Q5THJ4-2;Q5THJ4|.	.;VP13D_HUMAN|.	D|T	2927;2952|1774	ENSP00000348666:E2927D;ENSP00000350854:E2952D|.	ENSP00000348666:E2927D|.	E|N	+|+	3|2	2|0	VPS13D|VPS13D	12325666|12325666	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	2.821000|2.821000	0.48065|0.48065	0.378000|0.378000	0.24764|0.24764	0.528000|0.528000	0.53228|0.53228	GAA|AAT		0.398	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		Missense_Mutation
EPHA2	1969	broad.mit.edu	37	1	16451772	16451772	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1419-01	TCGA-24-1419-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1419-01	TCGA-24-1419-10	g.chr1:16451772G>A	ENST00000358432.5	-	17	3023	c.2869C>T	c.(2869-2871)Cgc>Tgc	p.R957C		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	957	Negatively regulates interaction with ARHGEF16.|SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R957C(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	TAGGCGATGCGCTTCTGGTGG	0.662																																																1	Substitution - Missense(1)	ovary(1)	1											57.0	44.0	48.0					1																	16451772		2203	4300	6503	16324359	SO:0001583	missense	1969			BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.2869C>T	1.37:g.16451772G>A	ENSP00000351209:p.Arg957Cys		16324359	B5A968|Q8N3Z2	Missense_Mutation	SNP	ENST00000358432.5	37	CCDS169.1	SNP	38	Broad	.	.	.	.	.	.	.	.	.	.	G	23.6	4.441442	0.83993	.	.	ENSG00000142627	ENST00000358432	T	0.55234	0.53	4.88	4.88	0.63580	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.52532	D	0.000071	T	0.77412	0.4126	M	0.90650	3.135	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	D	0.83390	0.0017	10	0.87932	D	0	.	17.007	0.86396	0.0:0.0:1.0:0.0	.	957	P29317	EPHA2_HUMAN	C	957	ENSP00000351209:R957C	ENSP00000351209:R957C	R	-	1	0	EPHA2	16324359	0.968000	0.33430	1.000000	0.80357	0.993000	0.82548	2.288000	0.43514	2.250000	0.74265	0.561000	0.74099	CGC		0.662	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431		Missense_Mutation
USP24	23358	broad.mit.edu	37	1	55624694	55624694	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1419-01	TCGA-24-1419-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1419-01	TCGA-24-1419-10	g.chr1:55624694G>C	ENST00000294383.6	-	10	1083	c.1084C>G	c.(1084-1086)Cct>Gct	p.P362A	USP24_ENST00000407756.1_Missense_Mutation_p.P250A	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	362					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.P331A(1)		breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						AAGAGCTCAGGGATGCTAACC	0.363																																																1	Substitution - Missense(1)	ovary(1)	1											49.0	45.0	46.0					1																	55624694		1897	4134	6031	55397282	SO:0001583	missense	23358			AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.1084C>G	1.37:g.55624694G>C	ENSP00000294383:p.Pro362Ala		55397282	Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	ENST00000294383.6	37	CCDS44154.2	SNP	43	Broad	.	.	.	.	.	.	.	.	.	.	G	12.30	1.897069	0.33535	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.63913	-0.07;4.44	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.67524	0.2902	L	0.29908	0.895	0.58432	D	0.99999	D	0.63880	0.993	D	0.70935	0.971	T	0.57888	-0.7733	10	0.07482	T	0.82	.	19.8195	0.96586	0.0:0.0:1.0:0.0	.	250	B7WPF4	.	A	362;250	ENSP00000294383:P362A;ENSP00000385700:P250A	ENSP00000294383:P362A	P	-	1	0	USP24	55397282	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	9.153000	0.94687	2.756000	0.94617	0.655000	0.94253	CCT		0.363	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			Missense_Mutation
RSBN1	54665	broad.mit.edu	37	1	114354853	114354853	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1419-01	TCGA-24-1419-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1419-01	TCGA-24-1419-10	g.chr1:114354853G>T	ENST00000261441.5	-	1	245	c.182C>A	c.(181-183)gCg>gAg	p.A61E	RP5-1073O3.2_ENST00000429398.1_RNA|RP5-1073O3.2_ENST00000418238.1_RNA	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	61						nucleus (GO:0005634)		p.A61E(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGCCGCCACCGCCCGTACTAC	0.662																																																1	Substitution - Missense(1)	ovary(1)	1											50.0	67.0	61.0					1																	114354853		2202	4298	6500	114156376	SO:0001583	missense	54665			AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.182C>A	1.37:g.114354853G>T	ENSP00000261441:p.Ala61Glu		114156376	A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Missense_Mutation	SNP	ENST00000261441.5	37	CCDS862.1	SNP	38	Broad	.	.	.	.	.	.	.	.	.	.	G	32	5.122492	0.94429	.	.	ENSG00000081019	ENST00000261441	.	.	.	5.63	5.63	0.86233	.	0.000000	0.49305	D	0.000159	T	0.44850	0.1313	N	0.08118	0	0.36304	D	0.857234	D	0.71674	0.998	D	0.79108	0.992	T	0.60239	-0.7302	9	0.87932	D	0	-5.2176	15.1826	0.72972	0.0:0.0:1.0:0.0	.	61	Q5VWQ0	RSBN1_HUMAN	E	61	.	ENSP00000261441:A61E	A	-	2	0	RSBN1	114156376	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.369000	0.59511	2.659000	0.90383	0.561000	0.74099	GCG		0.662	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033022.2	NM_018364		Missense_Mutation
CD84	8832	broad.mit.edu	37	1	160535272	160535272	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1419-01	TCGA-24-1419-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1419-01	TCGA-24-1419-10	g.chr1:160535272C>T	ENST00000311224.4	-	2	376	c.310G>A	c.(310-312)Gca>Aca	p.A104T	CD84_ENST00000368051.3_Missense_Mutation_p.A104T|CD84_ENST00000368048.3_Missense_Mutation_p.A104T|CD84_ENST00000534968.1_Intron|CD84_ENST00000368047.3_5'UTR|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000368054.3_Missense_Mutation_p.A104T	NM_001184879.1	NP_001171808.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	104	Ig-like V-type.				blood coagulation (GO:0007596)|defense response (GO:0006952)|homophilic cell adhesion (GO:0007156)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.A104T(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TAGTCTCCTGCGTCTTCCATC	0.468																																																1	Substitution - Missense(1)	ovary(1)	1											334.0	263.0	287.0					1																	160535272		2203	4300	6503	158801896	SO:0001583	missense	8832			AF054816	CCDS1206.1, CCDS53395.1, CCDS53396.1, CCDS53397.1	1q24	2013-01-11	2006-03-31		ENSG00000066294	ENSG00000066294		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1704	protein-coding gene	gene with protein product		604513	"""CD84 antigen (leukocyte antigen)"", ""CD84 molecule """			9310491	Standard	NM_003874		Approved	SLAMF5, hCD84, mCD84	uc001fwh.4	Q9UIB8	OTTHUMG00000022788	ENST00000311224.4:c.310G>A	1.37:g.160535272C>T	ENSP00000312367:p.Ala104Thr		158801896	B2R8T1|B7Z3R8|O15430|O95266|O95660|Q5H9R1|Q6FHA8|Q8WLP1|Q8WWI8|Q9UF04|Q9UIB6|Q9UIB7|Q9UIT7	Missense_Mutation	SNP	ENST00000311224.4	37	CCDS53396.1	SNP	27	Broad	.	.	.	.	.	.	.	.	.	.	C	16.03	3.006642	0.54361	.	.	ENSG00000066294	ENST00000368054;ENST00000368048;ENST00000311224;ENST00000368051;ENST00000360056;ENST00000368047	T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;1.9	5.25	-0.589	0.11683	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.569999	0.20130	N	0.098604	T	0.11324	0.0276	L	0.42529	1.33	0.09310	N	1	D;D;D;D;D;D	0.71674	0.997;0.997;0.998;0.993;0.996;0.996	P;P;P;B;P;P	0.50490	0.559;0.536;0.642;0.308;0.506;0.506	T	0.23226	-1.0194	10	0.31617	T	0.26	-1.6013	8.0978	0.30840	0.6258:0.2918:0.0:0.0823	.	104;104;104;104;104;104	Q9UIB8-5;Q9UIB8-6;Q9UIB8-4;Q9UIB8;Q9UIB8-2;Q9UIB8-3	.;.;.;SLAF5_HUMAN;.;.	T	104	ENSP00000357033:A104T;ENSP00000357027:A104T;ENSP00000312367:A104T;ENSP00000357030:A104T;ENSP00000353163:A104T;ENSP00000357026:A104T	ENSP00000312367:A104T	A	-	1	0	CD84	158801896	0.001000	0.12720	0.012000	0.15200	0.547000	0.35210	-0.345000	0.07770	-0.180000	0.10637	0.591000	0.81541	GCA		0.468	CD84-003	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059092.1	NM_003874		Missense_Mutation
C12orf40	283461	broad.mit.edu	37	12	40044120	40044120	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1419-01	TCGA-24-1419-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1419-01	TCGA-24-1419-10	g.chr12:40044120C>T	ENST00000324616.5	+	7	804	c.650C>T	c.(649-651)aCt>aTt	p.T217I	C12orf40_ENST00000398716.1_Missense_Mutation_p.T140I|C12orf40_ENST00000405531.3_Missense_Mutation_p.T217I	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	217								p.T217I(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						TCACATAAAACTACACGATTT	0.318																																																1	Substitution - Missense(1)	ovary(1)	12											76.0	68.0	71.0					12																	40044120		1811	4071	5882	38330387	SO:0001583	missense	283461			AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.650C>T	12.37:g.40044120C>T	ENSP00000317671:p.Thr217Ile		38330387	B7WNU1|Q8IXY6|Q8N818|V9HW02	Missense_Mutation	SNP	ENST00000324616.5	37	CCDS41770.1	SNP	20	Broad	.	.	.	.	.	.	.	.	.	.	C	2.263	-0.368833	0.05069	.	.	ENSG00000180116	ENST00000405531;ENST00000398716;ENST00000324616	T;T	0.45668	0.89;0.9	3.53	3.53	0.40419	.	0.544584	0.15415	N	0.263534	T	0.41050	0.1142	L	0.27053	0.805	0.09310	N	1	P	0.51351	0.944	P	0.52957	0.714	T	0.18053	-1.0349	10	0.66056	D	0.02	.	10.8778	0.46921	0.0:1.0:0.0:0.0	.	217	Q86WS4	CL040_HUMAN	I	217;140;217	ENSP00000383897:T217I;ENSP00000317671:T217I	ENSP00000317671:T217I	T	+	2	0	C12orf40	38330387	0.000000	0.05858	0.004000	0.12327	0.049000	0.14656	-0.487000	0.06505	2.279000	0.76181	0.650000	0.86243	ACT		0.318	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257664.2	NM_173599		Missense_Mutation
SCN8A	6334	broad.mit.edu	37	12	52115545	52115545	+	Nonsense_Mutation	SNP	C	C	A	rs201848186		TCGA-24-1419-01	TCGA-24-1419-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1419-01	TCGA-24-1419-10	g.chr12:52115545C>A	ENST00000354534.6	+	12	2029	c.1851C>A	c.(1849-1851)taC>taA	p.Y617*	SCN8A_ENST00000550891.1_Nonsense_Mutation_p.Y617*|SCN8A_ENST00000545061.1_Nonsense_Mutation_p.Y617*	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	617					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)	p.Y617*(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	acagcggctacagcggctaca	0.706																																																1	Substitution - Nonsense(1)	ovary(1)	12											7.0	12.0	11.0					12																	52115545		1740	3740	5480	50401812	SO:0001587	stop_gained	6334			AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.1851C>A	12.37:g.52115545C>A	ENSP00000346534:p.Tyr617*		50401812	B9VWG8|O95788|Q9NYX2|Q9UPB2	Nonsense_Mutation	SNP	ENST00000354534.6	37	CCDS44891.1	SNP	17	Broad	.	.	.	.	.	.	.	.	.	.	C	38	7.134323	0.98085	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961;ENST00000551216	.	.	.	3.93	3.93	0.45458	.	0.104565	0.40818	N	0.001015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	10.247	0.43347	0.0:0.9076:0.0:0.0924	.	.	.	.	X	617;617;617;617;530;415	.	ENSP00000346534:Y617X	Y	+	3	2	SCN8A	50401812	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.713000	0.25794	2.194000	0.70268	0.467000	0.42956	TAC		0.706	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		Nonsense_Mutation
TIMELESS	8914	broad.mit.edu	37	12	56827621	56827621	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1419-01	TCGA-24-1419-10			T	A	T	T	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-24-1419-01	TCGA-24-1419-10	g.chr12:56827621T>A	ENST00000553532.1	-	3	337	c.187A>T	c.(187-189)Agc>Tgc	p.S63C	TIMELESS_ENST00000554616.1_Missense_Mutation_p.S63C|TIMELESS_ENST00000229201.4_Missense_Mutation_p.S63C					timeless circadian clock									p.S63C(1)		NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						AGAAGGTCGCTCTGTAGGATC	0.547																																																1	Substitution - Missense(1)	ovary(1)	12											136.0	132.0	133.0					12																	56827621		2203	4300	6503	55113888	SO:0001583	missense	8914			AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.187A>T	12.37:g.56827621T>A	ENSP00000450607:p.Ser63Cys		55113888		Missense_Mutation	SNP	ENST00000553532.1	37	CCDS8918.1	SNP	54	Broad	.	.	.	.	.	.	.	.	.	.	T	20.4	3.988767	0.74589	.	.	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	T;T;T	0.47869	0.83;0.83;0.83	5.31	4.02	0.46733	Timeless protein (1);	0.162257	0.56097	D	0.000031	T	0.54013	0.1832	L	0.42245	1.32	0.36596	D	0.874413	D;D	0.71674	0.997;0.998	P;P	0.62649	0.846;0.905	T	0.62586	-0.6823	10	0.62326	D	0.03	-5.3951	9.0085	0.36127	0.0:0.1222:0.0:0.8778	.	63;63	Q9UNS1-2;Q9UNS1	.;TIM_HUMAN	C	63	ENSP00000229201:S63C;ENSP00000450607:S63C;ENSP00000450848:S63C	ENSP00000229201:S63C	S	-	1	0	TIMELESS	55113888	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.039000	0.57325	2.145000	0.66743	0.528000	0.53228	AGC		0.547	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		Missense_Mutation
PLEKHG7	440107	broad.mit.edu	37	12	93147942	93147942	+	Missense_Mutation	SNP	G	G	A	rs199587628	byFrequency	TCGA-24-1419-01	TCGA-24-1419-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1419-01	TCGA-24-1419-10	g.chr12:93147942G>A	ENST00000344636.3	+	6	576	c.392G>A	c.(391-393)cGa>cAa	p.R131Q		NM_001004330.2	NP_001004330.1	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 7	131	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R131Q(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						AGGCTCACTCGATATCCGTTG	0.498													G|||	2	0.000399361	0.0	0.0	5008	,	,		21795	0.002		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	ovary(1)	12											105.0	92.0	96.0					12																	93147942		2203	4300	6503	91672073	SO:0001583	missense	440107			AK128530	CCDS31873.1	12q22	2013-01-11				ENSG00000187510		"""Pleckstrin homology (PH) domain containing"""	33829	protein-coding gene	gene with protein product							Standard	NM_001004330		Approved	FLJ46688	uc001tcj.2	Q6ZR37		ENST00000344636.3:c.392G>A	12.37:g.93147942G>A	ENSP00000344961:p.Arg131Gln		91672073	B2RNR7	Missense_Mutation	SNP	ENST00000344636.3	37	CCDS31873.1	SNP	37	Broad	.	.	.	.	.	.	.	.	.	.	G	31	5.064362	0.93898	.	.	ENSG00000187510	ENST00000344636	T	0.75477	-0.94	5.32	5.32	0.75619	Dbl homology (DH) domain (4);	0.063407	0.64402	D	0.000005	D	0.86151	0.5864	M	0.79805	2.47	0.50313	D	0.999863	D	0.71674	0.998	P	0.62813	0.907	D	0.87920	0.2703	10	0.72032	D	0.01	-1.7726	18.5625	0.91105	0.0:0.0:1.0:0.0	.	131	Q6ZR37	PKHG7_HUMAN	Q	131	ENSP00000344961:R131Q	ENSP00000344961:R131Q	R	+	2	0	PLEKHG7	91672073	0.995000	0.38212	0.539000	0.28077	0.866000	0.49608	5.881000	0.69706	2.488000	0.83962	0.491000	0.48974	CGA		0.498	PLEKHG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407288.1	NM_001004330		Missense_Mutation
UBE3B	89910	broad.mit.edu	37	12	109968395	109968395	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1419-01	TCGA-24-1419-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1419-01	TCGA-24-1419-10	g.chr12:109968395G>T	ENST00000342494.3	+	26	3449	c.2854G>T	c.(2854-2856)Gtc>Ttc	p.V952F	UBE3B_ENST00000535089.1_Missense_Mutation_p.V39F|UBE3B_ENST00000434735.2_Missense_Mutation_p.V952F	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	952	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.V952F(1)		NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						AAGTCACAGAGTCATCATCTG	0.473																																																1	Substitution - Missense(1)	ovary(1)	12											160.0	144.0	149.0					12																	109968395		2203	4300	6503	108452778	SO:0001583	missense	89910			BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.2854G>T	12.37:g.109968395G>T	ENSP00000340596:p.Val952Phe		108452778	A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Missense_Mutation	SNP	ENST00000342494.3	37	CCDS9129.1	SNP	36	Broad	.	.	.	.	.	.	.	.	.	.	G	32	5.118477	0.94385	.	.	ENSG00000151148	ENST00000434735;ENST00000342494;ENST00000538070;ENST00000535089	T;T;T	0.58652	0.32;0.32;0.32	5.56	4.62	0.57501	HECT (4);	0.000000	0.85682	D	0.000000	T	0.76535	0.4001	M	0.81112	2.525	0.80722	D	1	P;D	0.76494	0.889;0.999	P;D	0.83275	0.476;0.996	T	0.79952	-0.1586	10	0.87932	D	0	-35.8816	14.9945	0.71421	0.0:0.1428:0.8572:0.0	.	247;952	F5H2J2;Q7Z3V4	.;UBE3B_HUMAN	F	952;952;247;39	ENSP00000391529:V952F;ENSP00000340596:V952F;ENSP00000442276:V39F	ENSP00000340596:V952F	V	+	1	0	UBE3B	108452778	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.426000	0.80270	2.626000	0.88956	0.655000	0.94253	GTC		0.473	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1	NM_183415		Missense_Mutation
ZNF268	10795	broad.mit.edu	37	12	133764548	133764548	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1419-01	TCGA-24-1419-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1419-01	TCGA-24-1419-10	g.chr12:133764548C>G	ENST00000536435.2	+	3	454	c.124C>G	c.(124-126)Ctg>Gtg	p.L42V	ZNF268_ENST00000536899.2_Intron|ZNF268_ENST00000541211.2_Missense_Mutation_p.L42V|CTD-2140B24.4_ENST00000540096.2_Missense_Mutation_p.L207V|ZNF268_ENST00000592241.1_Intron|ZNF268_ENST00000542986.2_Missense_Mutation_p.L42V|ZNF268_ENST00000416488.1_Missense_Mutation_p.L207V|ZNF268_ENST00000539248.2_Missense_Mutation_p.L42V|ZNF268_ENST00000537565.1_Intron|ZNF268_ENST00000542711.2_Intron|ZNF268_ENST00000228289.5_Missense_Mutation_p.L42V|ZNF268_ENST00000541009.2_Missense_Mutation_p.L42V	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	42					cell differentiation (GO:0030154)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein heterodimerization activity (GO:0043497)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L42V(1)		NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		GACTCCTGGTCTGCAACCTCT	0.512																																																1	Substitution - Missense(1)	ovary(1)	12											42.0	43.0	43.0					12																	133764548		1866	4116	5982	132274621	SO:0001583	missense	10795			X78926	CCDS45012.1, CCDS53851.1, CCDS53852.1, CCDS53853.1, CCDS53854.1, CCDS59239.1, CCDS59240.1	12q24.33	2013-01-08				ENSG00000090612		"""Zinc fingers, C2H2-type"", ""-"""	13061	protein-coding gene	gene with protein product		604753				7865130	Standard	NM_003415		Approved	HZF3	uc010tcf.2	Q14587	OTTHUMG00000167946	ENST00000536435.2:c.124C>G	12.37:g.133764548C>G	ENSP00000444412:p.Leu42Val		132274621	Q8TDG8|Q96RH4|Q9BZJ9	Missense_Mutation	SNP	ENST00000536435.2	37	CCDS45012.1	SNP	32	Broad	.	.	.	.	.	.	.	.	.	.	C	7.748	0.702682	0.15172	.	.	ENSG00000090612	ENST00000416488;ENST00000541009;ENST00000536435;ENST00000228289;ENST00000541211;ENST00000541975	T;T;T;T	0.07800	5.78;5.37;3.16;3.16	3.27	1.4	0.22301	.	.	.	.	.	T	0.04407	0.0121	N	0.14661	0.345	0.09310	N	1	B	0.19817	0.039	B	0.18871	0.023	T	0.46442	-0.9191	8	.	.	.	.	5.4978	0.16811	0.0:0.7329:0.0:0.2671	.	42	Q14587	ZN268_HUMAN	V	207;42;42;42;42;42	ENSP00000409295:L207V;ENSP00000439539:L42V;ENSP00000444412:L42V;ENSP00000228289:L42V	.	L	+	1	2	ZNF268	132274621	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.303000	0.19210	0.239000	0.21243	0.561000	0.74099	CTG		0.512	ZNF268-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397191.2	NM_152943		Missense_Mutation
ADAD2	161931	broad.mit.edu	37	16	84228562	84228562	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1419-01	TCGA-24-1419-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1419-01	TCGA-24-1419-10	g.chr16:84228562C>T	ENST00000315906.5	+	3	635	c.583C>T	c.(583-585)Cct>Tct	p.P195S	RP11-486L19.2_ENST00000561900.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA|ADAD2_ENST00000268624.3_Missense_Mutation_p.P267S|RP11-486L19.2_ENST00000565643.1_RNA	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	195					RNA processing (GO:0006396)		adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)	p.P267S(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						CTCCAGCCGGCCTCCACTGGC	0.677																																																1	Substitution - Missense(1)	ovary(1)	16											25.0	28.0	27.0					16																	84228562		2200	4300	6500	82786063	SO:0001583	missense	161931			AF447586	CCDS10944.1, CCDS45536.1	16q24.1	2007-05-31			ENSG00000140955	ENSG00000140955			30714	protein-coding gene	gene with protein product							Standard	NM_139174		Approved	TENRL, FLJ00337	uc002fhr.2	Q8NCV1	OTTHUMG00000137637	ENST00000315906.5:c.583C>T	16.37:g.84228562C>T	ENSP00000325153:p.Pro195Ser		82786063	B2RCL6|Q8NA94	Missense_Mutation	SNP	ENST00000315906.5	37	CCDS45536.1	SNP	26	Broad	.	.	.	.	.	.	.	.	.	.	C	9.988	1.229927	0.22542	.	.	ENSG00000140955	ENST00000315906;ENST00000268624	T;T	0.17854	2.25;2.25	4.09	0.897	0.19258	.	0.746120	0.11931	N	0.515678	T	0.11665	0.0284	L	0.43923	1.385	0.09310	N	0.999999	B;B	0.29136	0.132;0.234	B;B	0.25506	0.031;0.061	T	0.27434	-1.0074	10	0.35671	T	0.21	-0.0862	2.9357	0.05814	0.2183:0.541:0.0:0.2407	.	195;267	Q8NCV1;Q8NCV1-2	ADAD2_HUMAN;.	S	195;267	ENSP00000325153:P195S;ENSP00000268624:P267S	ENSP00000268624:P267S	P	+	1	0	ADAD2	82786063	0.088000	0.21588	0.159000	0.22649	0.003000	0.03518	0.106000	0.15354	0.427000	0.26145	-0.310000	0.09108	CCT		0.677	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433385.1	NM_139174		Missense_Mutation
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-24-1419-01	TCGA-24-1419-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1419-01	TCGA-24-1419-10	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|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)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	17	GRCh37	CM920675	TP53	M	rs11540652	C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152.0	112.0	126.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1.0	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	7518263	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln		7518263	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	SNP	23	Broad	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		Missense_Mutation
PNKP	11284	broad.mit.edu	37	19	50365864	50365864	+	Splice_Site	SNP	G	G	T			TCGA-24-1419-01	TCGA-24-1419-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1419-01	TCGA-24-1419-10	g.chr19:50365864G>T	ENST00000322344.3	-	10	976	c.867C>A	c.(865-867)gaC>gaA	p.D289E	AC018766.4_ENST00000596624.1_RNA|PNKP_ENST00000600910.1_Splice_Site_p.D289E|PNKP_ENST00000600573.1_Splice_Site_p.D289E|PNKP_ENST00000596014.1_Splice_Site_p.D289E	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	289	Phosphatase. {ECO:0000250}.				dephosphorylation (GO:0016311)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide phosphorylation (GO:0046939)|nucleotide-excision repair, DNA damage removal (GO:0000718)|polynucleotide 3' dephosphorylation (GO:0098506)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|endonuclease activity (GO:0004519)|nucleotide kinase activity (GO:0019201)|polynucleotide 3'-phosphatase activity (GO:0046403)|purine nucleotide binding (GO:0017076)	p.D289E(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		GTCCGGCTGCGTCTGGAACAC	0.701								Other BER factors																																								1	Substitution - Missense(1)	ovary(1)	19											30.0	32.0	32.0					19																	50365864		2203	4300	6503	55057676	SO:0001630	splice_region_variant	11284			AF126486	CCDS12783.1	19q13.3-q13.4	2008-02-05				ENSG00000039650			9154	protein-coding gene	gene with protein product		605610				10446192, 10446193	Standard	NM_007254		Approved	PNK	uc002pqj.3	Q96T60		ENST00000322344.3:c.866-1C>A	19.37:g.50365864G>T			55057676	Q9BUL2|Q9P1V2|Q9UKU8|Q9UNF8|Q9UNI0	Missense_Mutation	SNP	ENST00000322344.3	37	CCDS12783.1	SNP	40	Broad	.	.	.	.	.	.	.	.	.	.	G	24.1	4.489902	0.84962	.	.	ENSG00000039650	ENST00000322344	D	0.82526	-1.62	5.15	-9.25	0.00666	HAD-like domain (2);Polynucleotide kinase 3 phosphatase, central region (1);	0.000000	0.64402	D	0.000001	D	0.92770	0.7701	H	0.98833	4.345	0.53005	D	0.999968	D;D	0.71674	0.998;0.995	D;D	0.72338	0.977;0.977	D	0.93701	0.7015	10	0.87932	D	0	.	16.0908	0.81090	0.8051:0.0:0.1949:0.0	.	250;289	Q9BUL2;Q96T60	.;PNKP_HUMAN	E	289	ENSP00000323511:D289E	ENSP00000323511:D289E	D	-	3	2	PNKP	55057676	0.197000	0.23362	0.482000	0.27366	0.234000	0.25298	-0.568000	0.05909	-1.760000	0.01312	-1.036000	0.02392	GAC		0.701	PNKP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465830.1	NM_007254	Missense_Mutation	Missense_Mutation
CFAP36	112942	broad.mit.edu	37	2	55756101	55756101	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1419-01	TCGA-24-1419-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1419-01	TCGA-24-1419-10	g.chr2:55756101G>T	ENST00000349456.4	+	4	518	c.370G>T	c.(370-372)Gcc>Tcc	p.A124S	CCDC104_ENST00000339012.3_Missense_Mutation_p.A149S|CCDC104_ENST00000406691.3_Missense_Mutation_p.A124S|CCDC104_ENST00000407816.3_Missense_Mutation_p.A124S|CCDC104_ENST00000403007.3_Missense_Mutation_p.A124S			Q96G28	CFA36_HUMAN		124								p.A124S(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GCAGCTGCAAGCCATTCGAAT	0.338																																																1	Substitution - Missense(1)	ovary(1)	2											60.0	60.0	60.0					2																	55756101		2203	4300	6503	55609605	SO:0001583	missense	112942																														ENST00000349456.4:c.370G>T	2.37:g.55756101G>T	ENSP00000295117:p.Ala124Ser		55609605	Q53SF0|Q53ST9|Q6UY34	Missense_Mutation	SNP	ENST00000349456.4	37	CCDS1854.2	SNP	34	Broad	.	.	.	.	.	.	.	.	.	.	G	31	5.072247	0.93950	.	.	ENSG00000163001	ENST00000339012;ENST00000406691;ENST00000349456;ENST00000407816;ENST00000403007	T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59	6.17	6.17	0.99709	ADP-ribosylation factor-like 2-binding protein, domain (2);	0.045973	0.85682	D	0.000000	T	0.77405	0.4125	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.77907	-0.2412	10	0.72032	D	0.01	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	124;149	Q96G28;Q96G28-2	CC104_HUMAN;.	S	149;124;124;124;124	ENSP00000342699:A149S;ENSP00000385400:A124S;ENSP00000295117:A124S;ENSP00000385376:A124S;ENSP00000385972:A124S	ENSP00000342699:A149S	A	+	1	0	CCDC104	55609605	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.767000	0.85331	2.941000	0.99782	0.655000	0.94253	GCC		0.338	CCDC104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319610.2			Missense_Mutation
UXS1	80146	broad.mit.edu	37	2	106761805	106761805	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1419-01	TCGA-24-1419-10			C	G	C	C	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-24-1419-01	TCGA-24-1419-10	g.chr2:106761805C>G	ENST00000409501.3	-	6	355	c.298G>C	c.(298-300)Gtg>Ctg	p.V100L	UXS1_ENST00000283148.7_Missense_Mutation_p.V105L|UXS1_ENST00000428048.2_Intron|UXS1_ENST00000540130.1_Missense_Mutation_p.V43L|UXS1_ENST00000479621.1_5'UTR			Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	100					protein tetramerization (GO:0051262)|UDP-D-xylose biosynthetic process (GO:0033320)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|UDP-glucuronate decarboxylase activity (GO:0048040)	p.V105L(2)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						TGGGAGCCCACGAACCCTGCG	0.552																																																2	Substitution - Missense(2)	ovary(2)	2											82.0	81.0	81.0					2																	106761805		2100	4229	6329	106128237	SO:0001583	missense	80146			AK027244	CCDS46378.1, CCDS58720.1, CCDS58721.1	2q12.2	2012-02-22			ENSG00000115652	ENSG00000115652	4.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	17729	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 6E, member 12"""	609749				19027726	Standard	NM_001253875		Approved	FLJ23591, UGD, SDR6E1	uc002tdn.3	Q8NBZ7	OTTHUMG00000153150	ENST00000409501.3:c.298G>C	2.37:g.106761805C>G	ENSP00000387019:p.Val100Leu		106128237	Q8NBX3|Q9H5C2	Missense_Mutation	SNP	ENST00000409501.3	37	CCDS46378.1	SNP	19	Broad	.	.	.	.	.	.	.	.	.	.	C	21.9	4.219112	0.79464	.	.	ENSG00000115652	ENST00000283148;ENST00000540130;ENST00000409501;ENST00000457835	D;D;D;D	0.94092	-3.35;-3.35;-3.35;-3.35	5.84	5.84	0.93424	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.91553	0.7332	N	0.03891	-0.335	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.89228	0.3575	10	0.13470	T	0.59	-9.4627	20.1381	0.98040	0.0:1.0:0.0:0.0	.	105;100	Q8NBZ7-2;Q8NBZ7	.;UXS1_HUMAN	L	105;43;100;43	ENSP00000283148:V105L;ENSP00000438265:V43L;ENSP00000387019:V100L;ENSP00000399316:V43L	ENSP00000283148:V105L	V	-	1	0	UXS1	106128237	1.000000	0.71417	0.995000	0.50966	0.802000	0.45316	7.456000	0.80751	2.763000	0.94921	0.650000	0.86243	GTG		0.552	UXS1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329778.1	NM_025076.3		Missense_Mutation
RBMS1	5937	broad.mit.edu	37	2	161349853	161349853	+	Nonsense_Mutation	SNP	G	G	A			TCGA-24-1419-01	TCGA-24-1419-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1419-01	TCGA-24-1419-10	g.chr2:161349853G>A	ENST00000348849.3	-	1	452	c.22C>T	c.(22-24)Cag>Tag	p.Q8*	RBMS1_ENST00000392753.3_Nonsense_Mutation_p.Q8*|RBMS1_ENST00000474820.1_5'UTR	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1	8					DNA replication (GO:0006260)|RNA processing (GO:0006396)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.Q8*(1)	PLA2R1/RBMS1(2)								GGGTACATCTGCTGTTTCCAC	0.622																																																1	Substitution - Nonsense(1)	ovary(1)	2											72.0	60.0	64.0					2																	161349853		2203	4300	6503	161058099	SO:0001587	stop_gained	5937			D28482	CCDS2213.1	2q24.2	2013-02-12			ENSG00000153250	ENSG00000153250		"""RNA binding motif (RRM) containing"""	9907	protein-coding gene	gene with protein product	"""suppressor of cdc 2 (cdc13) with RNA binding motif 2"", ""c-myc gene single strand binding protein 2"""	602310	"""chromosome 2 open reading frame 12"""	C2orf12		8041632, 8134115, 7838710	Standard	NM_016836		Approved	SCR2, MSSP-1, MSSP-2, MSSP-3, YC1, HCC-4, DKFZp564H0764	uc002ubo.3	P29558	OTTHUMG00000132031	ENST00000348849.3:c.22C>T	2.37:g.161349853G>A	ENSP00000294904:p.Gln8*		161058099	Q14869|Q15433|Q53P46|Q53QX8|Q53RG6|Q8WV20	Nonsense_Mutation	SNP	ENST00000348849.3	37	CCDS2213.1	SNP	46	Broad	.	.	.	.	.	.	.	.	.	.	G	38	6.930117	0.97944	.	.	ENSG00000153250	ENST00000348849;ENST00000392753	.	.	.	4.06	4.06	0.47325	.	0.090520	0.43919	D	0.000507	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	16.5789	0.84708	0.0:0.0:1.0:0.0	.	.	.	.	X	8	.	ENSP00000294904:Q8X	Q	-	1	0	RBMS1	161058099	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	6.806000	0.75195	1.974000	0.57490	0.305000	0.20034	CAG		0.622	RBMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255043.4	NM_016836		Nonsense_Mutation
SP100	6672	broad.mit.edu	37	2	231368939	231368939	+	Nonsense_Mutation	SNP	C	C	T			TCGA-24-1419-01	TCGA-24-1419-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1419-01	TCGA-24-1419-10	g.chr2:231368939C>T	ENST00000264052.5	+	21	2159	c.1804C>T	c.(1804-1806)Caa>Taa	p.Q602*	SP100_ENST00000340126.4_Nonsense_Mutation_p.Q602*|RN7SL834P_ENST00000461450.2_RNA|SP100_ENST00000409112.1_Nonsense_Mutation_p.Q602*	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	602	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.				cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.Q602*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TAATTTTAAACAATCTGAACT	0.403																																																1	Substitution - Nonsense(1)	ovary(1)	2											134.0	141.0	139.0					2																	231368939		2203	4300	6503	231077183	SO:0001587	stop_gained	6672			AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.1804C>T	2.37:g.231368939C>T	ENSP00000264052:p.Gln602*		231077183	B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Nonsense_Mutation	SNP	ENST00000264052.5	37	CCDS2477.1	SNP	17	Broad	.	.	.	.	.	.	.	.	.	.	C	38	6.923156	0.97936	.	.	ENSG00000067066	ENST00000264052;ENST00000409112;ENST00000340126;ENST00000414648	.	.	.	4.54	-9.07	0.00724	.	10.162400	0.00166	N	0.000002	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	1.5879	0.02648	0.2531:0.1033:0.3445:0.2992	.	.	.	.	X	602;602;602;85	.	ENSP00000264052:Q602X	Q	+	1	0	SP100	231077183	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.070000	0.00619	-3.107000	0.00243	-0.136000	0.14681	CAA		0.403	SP100-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256914.2	NM_003113		Nonsense_Mutation
LBP	3929	broad.mit.edu	37	20	36983801	36983801	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1419-01	TCGA-24-1419-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1419-01	TCGA-24-1419-10	g.chr20:36983801G>C	ENST00000217407.2	+	5	741	c.580G>C	c.(580-582)Gag>Cag	p.E194Q		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	194					acute-phase response (GO:0006953)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of molecule of bacterial origin (GO:0032490)|innate immune response (GO:0045087)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of tumor necrosis factor production (GO:0032720)|opsonization (GO:0008228)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage activation (GO:0043032)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|receptor binding (GO:0005102)	p.E194Q(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				GAAAGTACTGGAGAGCAGGGT	0.587																																																1	Substitution - Missense(1)	ovary(1)	20											87.0	69.0	75.0					20																	36983801		2202	4300	6502	36417215	SO:0001583	missense	3929				CCDS13304.1	20q11.23	2011-08-16	2001-11-28		ENSG00000129988	ENSG00000129988		"""BPI fold containing"""	6517	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 2"""	151990	"""lipopolysaccharide-binding protein"""			8432532	Standard	NM_004139		Approved	BPIFD2	uc002xic.2	P18428	OTTHUMG00000032447	ENST00000217407.2:c.580G>C	20.37:g.36983801G>C	ENSP00000217407:p.Glu194Gln		36417215	B2R938|O43438|Q92672|Q9H403|Q9UD66	Missense_Mutation	SNP	ENST00000217407.2	37	CCDS13304.1	SNP	41	Broad	.	.	.	.	.	.	.	.	.	.	G	8.685	0.905977	0.17760	.	.	ENSG00000129988	ENST00000217407;ENST00000538599	T	0.05139	3.49	5.55	4.6	0.57074	Lipid-binding serum glycoprotein, N-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.146689	0.46758	D	0.000267	T	0.10121	0.0248	L	0.39147	1.195	0.27959	N	0.936836	P	0.39376	0.67	P	0.46419	0.516	T	0.06445	-1.0826	10	0.30854	T	0.27	-24.4135	13.3026	0.60334	0.0809:0.0:0.9191:0.0	.	194	P18428	LBP_HUMAN	Q	194	ENSP00000217407:E194Q	ENSP00000217407:E194Q	E	+	1	0	LBP	36417215	0.920000	0.31207	0.577000	0.28562	0.021000	0.10359	0.834000	0.27518	0.919000	0.36945	-0.797000	0.03246	GAG		0.587	LBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079174.2	NM_004139		Missense_Mutation
SCN5A	6331	broad.mit.edu	37	3	38646297	38646297	+	Missense_Mutation	SNP	G	G	A	rs144511230	byFrequency	TCGA-24-1419-01	TCGA-24-1419-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1419-01	TCGA-24-1419-10	g.chr3:38646297G>A	ENST00000333535.4	-	11	1590	c.1441C>T	c.(1441-1443)Cgg>Tgg	p.R481W	SCN5A_ENST00000443581.1_Missense_Mutation_p.R481W|SCN5A_ENST00000451551.2_Missense_Mutation_p.R481W|SCN5A_ENST00000413689.1_Missense_Mutation_p.R481W|SCN5A_ENST00000423572.2_Missense_Mutation_p.R481W|SCN5A_ENST00000414099.2_Missense_Mutation_p.R481W|SCN5A_ENST00000455624.2_Missense_Mutation_p.R481W|SCN5A_ENST00000450102.2_Missense_Mutation_p.R481W|SCN5A_ENST00000425664.1_Missense_Mutation_p.R481W|SCN5A_ENST00000449557.2_Missense_Mutation_p.R481W			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	481			R -> W (found in patients with atrial fibrillation). {ECO:0000269|PubMed:18378609}.		AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.R481W(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GAAGACATCCGTTTTCTCCTC	0.547													G|||	14	0.00279553	0.0098	0.0014	5008	,	,		20820	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	ovary(1)	3						G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	39,3897		0,39,1929	109.0	108.0	109.0		1441,1441,1441,1441,1441,1441	3.3	0.9	3	dbSNP_134	109	0,8270		0,0,4135	yes	missense,missense,missense,missense,missense,missense	SCN5A	NM_000335.4,NM_001099404.1,NM_001099405.1,NM_001160160.1,NM_001160161.1,NM_198056.2	101,101,101,101,101,101	0,39,6064	AA,AG,GG		0.0,0.9909,0.3195	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	481/2016,481/2017,481/1999,481/1984,481/1963,481/2017	38646297	39,12167	1968	4135	6103	38621301	SO:0001583	missense	6331			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.1441C>T	3.37:g.38646297G>A	ENSP00000328968:p.Arg481Trp		38621301	A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	CCDS46796.1	SNP	40	Broad	7	0.003205128205128205	6	0.012195121951219513	1	0.0027624309392265192	0	0.0	0	0.0	G	15.65	2.896784	0.52121	0.009909	0.0	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.91577	-2.87;-2.87;-2.87;-2.87;-2.87;-2.87;-2.87;-2.87;-2.87;-2.87	5.33	3.29	0.37713	Domain of unknown function DUF3451 (1);	0.062603	0.64402	D	0.000009	D	0.89938	0.6860	L	0.49571	1.57	0.27520	N	0.951418	B;D;B;B;B;D;B	0.76494	0.009;0.998;0.017;0.022;0.022;0.999;0.017	B;D;B;B;B;D;B	0.64776	0.005;0.914;0.007;0.013;0.013;0.929;0.007	D	0.84788	0.0777	10	0.72032	D	0.01	.	11.6772	0.51436	0.0:0.102:0.7186:0.1794	.	481;481;481;481;481;481;481	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	W	481	ENSP00000398962:R481W;ENSP00000398266:R481W;ENSP00000410257:R481W;ENSP00000388797:R481W;ENSP00000397915:R481W;ENSP00000416634:R481W;ENSP00000328968:R481W;ENSP00000399524:R481W;ENSP00000403355:R481W;ENSP00000413996:R481W	ENSP00000328968:R481W	R	-	1	2	SCN5A	38621301	0.940000	0.31905	0.902000	0.35471	0.670000	0.39368	2.016000	0.40971	1.218000	0.43458	0.655000	0.94253	CGG		0.547	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		Missense_Mutation
CCDC37	348807	broad.mit.edu	37	3	126154467	126154467	+	Missense_Mutation	SNP	C	C	T	rs373742550		TCGA-24-1419-01	TCGA-24-1419-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1419-01	TCGA-24-1419-10	g.chr3:126154467C>T	ENST00000352312.1	+	16	1793	c.1694C>T	c.(1693-1695)gCg>gTg	p.A565V	CCDC37_ENST00000506204.1_3'UTR|CCDC37_ENST00000505024.1_Missense_Mutation_p.A566V|CCDC37_ENST00000393425.1_Missense_Mutation_p.A566V	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	565								p.A565V(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		CGGGCCCGGGCGCGCGCCCAG	0.602																																																1	Substitution - Missense(1)	ovary(1)	3						C	VAL/ALA	0,4406		0,0,2203	29.0	36.0	33.0		1694	4.4	0.5	3		33	2,8598	2.2+/-6.3	0,2,4298	no	missense	CCDC37	NM_182628.2	64	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	565/612	126154467	2,13004	2203	4300	6503	127637157	SO:0001583	missense	348807			AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.1694C>T	3.37:g.126154467C>T	ENSP00000344749:p.Ala565Val		127637157	D3DNA8|Q494V1|Q494V4|Q8N838	Missense_Mutation	SNP	ENST00000352312.1	37	CCDS3037.1	SNP	27	Broad	.	.	.	.	.	.	.	.	.	.	C	13.72	2.321905	0.41096	0.0	2.33E-4	ENSG00000163885	ENST00000352312;ENST00000393425;ENST00000505024	T;T;T	0.32753	1.44;1.44;1.44	4.4	4.4	0.53042	.	0.190562	0.45361	D	0.000374	T	0.50154	0.1599	M	0.72894	2.215	0.32964	D	0.521375	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.985	T	0.60737	-0.7204	10	0.38643	T	0.18	-22.2669	10.1732	0.42922	0.1992:0.8008:0.0:0.0	.	566;565	Q494V2-2;Q494V2	.;CCD37_HUMAN	V	565;566;566	ENSP00000344749:A565V;ENSP00000377076:A566V;ENSP00000423046:A566V	ENSP00000344749:A565V	A	+	2	0	CCDC37	127637157	0.988000	0.35896	0.463000	0.27130	0.026000	0.11368	2.817000	0.48034	2.162000	0.67917	0.491000	0.48974	GCG		0.602	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000370099.4	NM_182628		Missense_Mutation
USP13	8975	broad.mit.edu	37	3	179478937	179478937	+	Silent	SNP	C	C	G			TCGA-24-1419-01	TCGA-24-1419-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1419-01	TCGA-24-1419-10	g.chr3:179478937C>G	ENST00000263966.3	+	17	2457	c.1986C>G	c.(1984-1986)gcC>gcG	p.A662A	USP13_ENST00000496897.1_Silent_p.A597A	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	662	UBA 1. {ECO:0000255|PROSITE- ProRule:PRU00212}.|USP.				autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.A662A(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			TGCAGCTGGCCGAGATGGGTT	0.498																																																1	Substitution - coding silent(1)	ovary(1)	3											140.0	131.0	134.0					3																	179478937		2203	4300	6503	180961631	SO:0001819	synonymous_variant	8975			U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056		"""Ubiquitin-specific peptidases"""	12611	protein-coding gene	gene with protein product		603591	"""ubiquitin specific protease 13 (isopeptidase T-3)"""			12838346	Standard	NM_003940		Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.1986C>G	3.37:g.179478937C>G			180961631	A8K2S3|B4DYF3|D3DNS2|Q96B25	Silent	SNP	ENST00000263966.3	37	CCDS3235.1	SNP	23	Broad																																																																																				0.498	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349617.1			Silent
B3GNT5	84002	broad.mit.edu	37	3	182988300	182988300	+	Nonsense_Mutation	SNP	C	C	A	rs543575415		TCGA-24-1419-01	TCGA-24-1419-10			C	A	C	C	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-24-1419-01	TCGA-24-1419-10	g.chr3:182988300C>A	ENST00000326505.3	+	2	1244	c.714C>A	c.(712-714)taC>taA	p.Y238*	MCF2L2_ENST00000328913.3_Intron|B3GNT5_ENST00000460419.1_Nonsense_Mutation_p.Y238*|MCF2L2_ENST00000473233.1_Intron|B3GNT5_ENST00000465010.1_Nonsense_Mutation_p.Y238*|MCF2L2_ENST00000447025.2_Intron	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	238					cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycolipid biosynthetic process (GO:0009247)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity (GO:0008457)|galactosyltransferase activity (GO:0008378)|lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase activity (GO:0047256)|lipopolysaccharide N-acetylglucosaminyltransferase activity (GO:0008917)	p.Y238*(1)		endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GCAAATACTACGTGTCCTATG	0.458																																																1	Substitution - Nonsense(1)	ovary(1)	3											108.0	99.0	102.0					3																	182988300		2203	4300	6503	184470994	SO:0001587	stop_gained	84002			AB045278	CCDS3244.1	3q28	2013-02-21			ENSG00000176597	ENSG00000176597	2.4.1.206	"""Beta 3-glycosyltransferases"""	15684	protein-coding gene	gene with protein product	"""lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase"""	615333				11283017	Standard	XM_005247824		Approved	B3GN-T5, beta3Gn-T5	uc003flk.3	Q9BYG0	OTTHUMG00000158436	ENST00000326505.3:c.714C>A	3.37:g.182988300C>A	ENSP00000316173:p.Tyr238*		184470994	D3DNS5|Q59FE3|Q7L9Z5|Q8WWP9	Nonsense_Mutation	SNP	ENST00000326505.3	37	CCDS3244.1	SNP	19	Broad	.	.	.	.	.	.	.	.	.	.	C	38	6.793051	0.97841	.	.	ENSG00000176597	ENST00000326505;ENST00000460419;ENST00000465010	.	.	.	5.91	-6.0	0.02206	.	0.130552	0.53938	D	0.000054	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.536	0.67960	0.0:0.4958:0.0:0.5042	.	.	.	.	X	238	.	ENSP00000316173:Y238X	Y	+	3	2	B3GNT5	184470994	0.438000	0.25602	0.909000	0.35828	0.232000	0.25224	-0.278000	0.08490	-0.987000	0.03494	-1.969000	0.00466	TAC		0.458	B3GNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351009.1	NM_032047		Nonsense_Mutation
MAGEF1	64110	broad.mit.edu	37	3	184429502	184429502	+	Silent	SNP	G	G	A			TCGA-24-1419-01	TCGA-24-1419-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1419-01	TCGA-24-1419-10	g.chr3:184429502G>A	ENST00000317897.3	-	1	334	c.108C>T	c.(106-108)cgC>cgT	p.R36R		NM_022149.4	NP_071432.2	Q9HAY2	MAGF1_HUMAN	melanoma antigen family F, 1	36						extracellular vesicular exosome (GO:0070062)		p.R36R(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22)			CCTCCTTGGGGCGCTCCTGCG	0.736																																																1	Substitution - coding silent(1)	ovary(1)	3											10.0	13.0	12.0					3																	184429502		2141	4230	6371	185912196	SO:0001819	synonymous_variant	64110			AF295378	CCDS3269.1	3q13	2008-02-05			ENSG00000177383	ENSG00000177383			29639	protein-coding gene	gene with protein product		609267				11313144	Standard	NM_022149		Approved		uc003fpa.3	Q9HAY2	OTTHUMG00000156712	ENST00000317897.3:c.108C>T	3.37:g.184429502G>A			185912196	Q9H215	Silent	SNP	ENST00000317897.3	37	CCDS3269.1	SNP	42	Broad																																																																																				0.736	MAGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345417.1	NM_022149		Silent
PDLIM5	10611	broad.mit.edu	37	4	95578684	95578684	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1419-01	TCGA-24-1419-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1419-01	TCGA-24-1419-10	g.chr4:95578684C>A	ENST00000317968.4	+	11	1707	c.1571C>A	c.(1570-1572)cCc>cAc	p.P524H	PDLIM5_ENST00000380176.3_3'UTR|PDLIM5_ENST00000514743.1_Missense_Mutation_p.P553H|PDLIM5_ENST00000437932.1_Missense_Mutation_p.P415H|PDLIM5_ENST00000542407.1_Missense_Mutation_p.P402H	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	524	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				regulation of dendritic spine morphogenesis (GO:0061001)|regulation of synapse assembly (GO:0051963)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|actinin binding (GO:0042805)|protein kinase C binding (GO:0005080)|zinc ion binding (GO:0008270)	p.P524H(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		GATGGTGAACCCTACTGTGAG	0.378																																																1	Substitution - Missense(1)	ovary(1)	4											139.0	123.0	128.0					4																	95578684		2203	4300	6503	95797707	SO:0001583	missense	10611			AF061258	CCDS3641.1, CCDS47103.1, CCDS47104.1, CCDS58915.1, CCDS58916.1, CCDS58917.1, CCDS75166.1	4q22	2006-04-12			ENSG00000163110	ENSG00000163110			17468	protein-coding gene	gene with protein product		605904				15346770	Standard	NM_006457		Approved	LIM, Enh	uc003htk.4	Q96HC4	OTTHUMG00000130973	ENST00000317968.4:c.1571C>A	4.37:g.95578684C>A	ENSP00000321746:p.Pro524His		95797707	A8K6F9|D6RB78|E9PBF5|O60705|Q56VN4|Q5UW38|Q8WVK0	Missense_Mutation	SNP	ENST00000317968.4	37	CCDS3641.1	SNP	22	Broad	.	.	.	.	.	.	.	.	.	.	C	28.9	4.959391	0.92726	.	.	ENSG00000163110	ENST00000437932;ENST00000317968;ENST00000503974;ENST00000542407;ENST00000514743	D;D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28;-2.28	5.87	5.87	0.94306	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	D	0.94945	0.8365	M	0.89214	3.015	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;0.999	D	0.95049	0.8185	10	0.87932	D	0	.	20.1935	0.98237	0.0:1.0:0.0:0.0	.	421;553;524;415	E9PBF5;D6RB78;Q96HC4;Q96HC4-4	.;.;PDLI5_HUMAN;.	H	415;524;421;402;553	ENSP00000398469:P415H;ENSP00000321746:P524H;ENSP00000424297:P421H;ENSP00000442187:P402H;ENSP00000424360:P553H	ENSP00000321746:P524H	P	+	2	0	PDLIM5	95797707	1.000000	0.71417	0.995000	0.50966	0.928000	0.56348	7.757000	0.85209	2.779000	0.95612	0.591000	0.81541	CCC		0.378	PDLIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253586.1			Missense_Mutation
ADAM29	11086	broad.mit.edu	37	4	175896854	175896854	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1419-01	TCGA-24-1419-10			G	A	G	G	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-24-1419-01	TCGA-24-1419-10	g.chr4:175896854G>A	ENST00000359240.3	+	5	848	c.178G>A	c.(178-180)Ggc>Agc	p.G60S	ADAM29_ENST00000445694.1_Missense_Mutation_p.G60S|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000404450.4_Missense_Mutation_p.G60S|ADAM29_ENST00000514159.1_Missense_Mutation_p.G60S	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	60					spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.G60S(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GCCCTTTGGAGGCCAGAAACA	0.507																																					Ovarian(140;1727 1835 21805 25838 41440)											1	Substitution - Missense(1)	ovary(1)	4											50.0	47.0	48.0					4																	175896854		2203	4300	6503	176133429	SO:0001583	missense	11086			AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.178G>A	4.37:g.175896854G>A	ENSP00000352177:p.Gly60Ser		176133429	Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	CCDS3823.1	SNP	35	Broad	.	.	.	.	.	.	.	.	.	.	G	11.92	1.783947	0.31593	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000502940;ENST00000404450;ENST00000514159	T;T;T;T;T	0.16324	2.35;2.35;2.35;2.35;2.35	3.77	2.89	0.33648	Peptidase M12B, propeptide (1);	0.000000	0.36815	U	0.002391	T	0.45518	0.1346	M	0.92604	3.325	0.09310	N	1	D	0.76494	0.999	D	0.71656	0.974	T	0.36504	-0.9745	9	.	.	.	.	8.4739	0.33001	0.0:0.0:0.7682:0.2318	.	60	Q9UKF5	ADA29_HUMAN	S	60	ENSP00000352177:G60S;ENSP00000414544:G60S;ENSP00000427674:G60S;ENSP00000384229:G60S;ENSP00000423517:G60S	.	G	+	1	0	ADAM29	176133429	0.997000	0.39634	0.151000	0.22473	0.008000	0.06430	3.610000	0.54125	1.114000	0.41781	0.637000	0.83480	GGC		0.507	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				Missense_Mutation
PLCXD3	345557	broad.mit.edu	37	5	41510527	41510527	+	Splice_Site	SNP	T	T	A			TCGA-24-1419-01	TCGA-24-1419-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1419-01	TCGA-24-1419-10	g.chr5:41510527T>A	ENST00000377801.3	-	1	176	c.102A>T	c.(100-102)ccA>ccT	p.P34P	PLCXD3_ENST00000328457.3_Splice_Site_p.P34P			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	34	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)	p.P34P(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CGCGCCTACCTGGAATGGCTA	0.622																																																1	Substitution - coding silent(1)	ovary(1)	5											30.0	27.0	28.0					5																	41510527		2203	4300	6503	41546284	SO:0001630	splice_region_variant	345557				CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.103+1A>T	5.37:g.41510527T>A			41546284	A6NL04	Silent	SNP	ENST00000377801.3	37	CCDS34150.1	SNP	55	Broad																																																																																				0.622	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367109.1	XM_293875	Silent	Silent
LATS1	9113	broad.mit.edu	37	6	150001362	150001362	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1419-01	TCGA-24-1419-10			C	T	C	C	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-24-1419-01	TCGA-24-1419-10	g.chr6:150001362C>T	ENST00000543571.1	-	5	2789	c.2242G>A	c.(2242-2244)Gct>Act	p.A748T	LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Missense_Mutation_p.A748T	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1									p.A748T(1)		central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TTAACATGAGCGACTTGATTT	0.368																																																1	Substitution - Missense(1)	ovary(1)	6											122.0	117.0	119.0					6																	150001362		2203	4300	6503	150043055	SO:0001583	missense	9113			AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.2242G>A	6.37:g.150001362C>T	ENSP00000437550:p.Ala748Thr		150043055		Missense_Mutation	SNP	ENST00000543571.1	37	CCDS34551.1	SNP	27	Broad	.	.	.	.	.	.	.	.	.	.	C	32	5.153759	0.94645	.	.	ENSG00000131023	ENST00000543571;ENST00000253339	T;T	0.64618	-0.11;-0.11	5.5	5.5	0.81552	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000029	T	0.53818	0.1820	N	0.17082	0.46	0.80722	D	1	D	0.56521	0.976	P	0.58077	0.832	T	0.51919	-0.8644	9	.	.	.	.	19.7653	0.96337	0.0:1.0:0.0:0.0	.	748	O95835	LATS1_HUMAN	T	748	ENSP00000437550:A748T;ENSP00000253339:A748T	.	A	-	1	0	LATS1	150043055	1.000000	0.71417	0.997000	0.53966	0.942000	0.58702	7.445000	0.80570	2.730000	0.93505	0.563000	0.77884	GCT		0.368	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690		Missense_Mutation
LAMB1	3912	broad.mit.edu	37	7	107570040	107570040	+	Missense_Mutation	SNP	A	A	G	rs199646967		TCGA-24-1419-01	TCGA-24-1419-10			A	G	A	A	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-24-1419-01	TCGA-24-1419-10	g.chr7:107570040A>G	ENST00000222399.6	-	30	4792	c.4562T>C	c.(4561-4563)aTt>aCt	p.I1521T	LAMB1_ENST00000474380.1_5'UTR|LAMB1_ENST00000393561.1_Missense_Mutation_p.I1545T	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1521	Domain I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)	p.I1521T(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						AACTGCTTCAATGCTGTCCAA	0.408													A|||	1	0.000199681	0.0	0.0	5008	,	,		18515	0.0		0.0	False		,,,				2504	0.001															1	Substitution - Missense(1)	ovary(1)	7											120.0	102.0	108.0					7																	107570040		2203	4300	6503	107357276	SO:0001583	missense	3912			M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.4562T>C	7.37:g.107570040A>G	ENSP00000222399:p.Ile1521Thr		107357276	Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	CCDS5750.1	SNP	4	Broad	.	.	.	.	.	.	.	.	.	.	A	25.6	4.659619	0.88154	.	.	ENSG00000091136	ENST00000393561;ENST00000222399	T;T	0.44083	0.93;0.93	5.52	5.52	0.82312	.	.	.	.	.	T	0.65491	0.2696	M	0.78456	2.415	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.70935	0.971;0.957	T	0.69826	-0.5040	9	0.72032	D	0.01	.	15.8169	0.78608	1.0:0.0:0.0:0.0	.	1521;1545	P07942;G3XAI2	LAMB1_HUMAN;.	T	1545;1521	ENSP00000377191:I1545T;ENSP00000222399:I1521T	ENSP00000222399:I1521T	I	-	2	0	LAMB1	107357276	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.757000	0.91657	2.311000	0.77944	0.528000	0.53228	ATT		0.408	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		Missense_Mutation
FOCAD	54914	broad.mit.edu	37	9	20885120	20885120	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1419-01	TCGA-24-1419-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1419-01	TCGA-24-1419-10	g.chr9:20885120T>A	ENST00000380249.1	+	23	2880	c.2516T>A	c.(2515-2517)tTt>tAt	p.F839Y	FOCAD_ENST00000605086.1_Missense_Mutation_p.F275Y|FOCAD_ENST00000338382.6_Missense_Mutation_p.F839Y	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	839						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)		p.F839Y(1)									GGTATGTTATTTTGCTATGAT	0.348																																																1	Substitution - Missense(1)	ovary(1)	9											99.0	90.0	93.0					9																	20885120		2203	4300	6503	20875120	SO:0001583	missense	54914			AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.2516T>A	9.37:g.20885120T>A	ENSP00000369599:p.Phe839Tyr		20875120	D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	CCDS34993.1	SNP	64	Broad	.	.	.	.	.	.	.	.	.	.	T	16.51	3.143552	0.57044	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.08984	3.03;3.03	5.16	5.16	0.70880	Armadillo-type fold (1);	0.067669	0.64402	D	0.000012	T	0.10337	0.0253	L	0.40543	1.245	0.32096	N	0.591238	B	0.31153	0.31	B	0.34138	0.176	T	0.04360	-1.0957	10	0.44086	T	0.13	-0.3743	15.3017	0.73958	0.0:0.0:0.0:1.0	.	839	Q5VW36	K1797_HUMAN	Y	839	ENSP00000369599:F839Y;ENSP00000344307:F839Y	ENSP00000344307:F839Y	F	+	2	0	KIAA1797	20875120	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.363000	0.66104	2.074000	0.62210	0.454000	0.30748	TTT		0.348	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		Missense_Mutation
MOB3B	79817	broad.mit.edu	37	9	27455162	27455162	+	Silent	SNP	G	G	A			TCGA-24-1419-01	TCGA-24-1419-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1419-01	TCGA-24-1419-10	g.chr9:27455162G>A	ENST00000262244.5	-	2	811	c.387C>T	c.(385-387)atC>atT	p.I129I		NM_024761.4	NP_079037.3	Q86TA1	MOB3B_HUMAN	MOB kinase activator 3B	129							metal ion binding (GO:0046872)	p.I129I(1)									CCTCGTTGTTGATCTGAACCT	0.433																																																1	Substitution - coding silent(1)	ovary(1)	9											107.0	98.0	101.0					9																	27455162		2203	4300	6503	27445162	SO:0001819	synonymous_variant	79817			AK023266	CCDS6520.1	9p21.1	2012-07-05	2011-09-28	2011-09-28	ENSG00000120162	ENSG00000120162		"""MOB kinase activators"""	23825	protein-coding gene	gene with protein product	"""monopolar spindle 1 binding, MOB1, domain containing"""		"""MOB1, Mps One Binder kinase activator-like 2B (yeast)"", ""chromosome 9 open reading frame 35"""	MOBKL2B, C9orf35		12477932	Standard	NM_024761		Approved	MOB1D, FLJ13204	uc003zqn.3	Q86TA1	OTTHUMG00000019717	ENST00000262244.5:c.387C>T	9.37:g.27455162G>A			27445162	Q8NEB4|Q9H8V4	Silent	SNP	ENST00000262244.5	37	CCDS6520.1	SNP	45	Broad																																																																																				0.433	MOB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051974.2	NM_024761		Silent
PCSK5	5125	broad.mit.edu	37	9	78784684	78784684	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1419-01	TCGA-24-1419-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1419-01	TCGA-24-1419-10	g.chr9:78784684G>C	ENST00000545128.1	+	13	2222	c.1684G>C	c.(1684-1686)Gaa>Caa	p.E562Q	PCSK5_ENST00000376752.4_Missense_Mutation_p.E562Q|PCSK5_ENST00000376767.3_Missense_Mutation_p.E562Q	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	562					anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)	p.E562Q(2)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TTGCTGGGGAGAAAGAGCTGC	0.418																																																2	Substitution - Missense(2)	ovary(2)	9											155.0	150.0	152.0					9																	78784684		2203	4300	6503	77974504	SO:0001583	missense	5125				CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.1684G>C	9.37:g.78784684G>C	ENSP00000446280:p.Glu562Gln		77974504	F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	CCDS55320.1	SNP	33	Broad	.	.	.	.	.	.	.	.	.	.	G	28.2	4.897763	0.91962	.	.	ENSG00000099139	ENST00000545128;ENST00000376754;ENST00000376767;ENST00000396108;ENST00000376752;ENST00000424854	T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.90459	0.7012	M	0.93462	3.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	D	0.92157	0.5733	10	0.87932	D	0	-28.4367	20.0175	0.97485	0.0:0.0:1.0:0.0	.	562;562	Q92824-2;B1AMG5	.;.	Q	562;265;562;562;562;235	ENSP00000446280:E562Q;ENSP00000365958:E562Q;ENSP00000365943:E562Q;ENSP00000411654:E235Q	ENSP00000365943:E562Q	E	+	1	0	PCSK5	77974504	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	9.355000	0.97087	2.730000	0.93505	0.650000	0.86243	GAA		0.418	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				Missense_Mutation
ROR2	4920	broad.mit.edu	37	9	94487038	94487038	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1419-01	TCGA-24-1419-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1419-01	TCGA-24-1419-10	g.chr9:94487038C>A	ENST00000375708.3	-	9	1936	c.1738G>T	c.(1738-1740)Gac>Tac	p.D580Y	ROR2_ENST00000375715.1_Missense_Mutation_p.D440Y|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	580	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)	p.D580Y(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ACCGTGCGGTCATCATCGGTG	0.637																																																1	Substitution - Missense(1)	ovary(1)	9											55.0	52.0	53.0					9																	94487038		2203	4300	6503	93526859	SO:0001583	missense	4920			M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.1738G>T	9.37:g.94487038C>A	ENSP00000364860:p.Asp580Tyr		93526859	Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	ENST00000375708.3	37	CCDS6691.1	SNP	29	Broad	.	.	.	.	.	.	.	.	.	.	C	15.68	2.905053	0.52333	.	.	ENSG00000169071	ENST00000375715;ENST00000375708	D;D	0.89050	-2.46;-2.46	4.86	4.86	0.63082	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.157511	0.29093	N	0.013180	D	0.92951	0.7757	L	0.53671	1.685	0.80722	D	1	D;D	0.76494	0.999;0.993	D;D	0.70016	0.967;0.967	D	0.93651	0.6973	10	0.87932	D	0	.	18.2087	0.89863	0.0:1.0:0.0:0.0	.	580;440	Q01974;B1APY4	ROR2_HUMAN;.	Y	440;580	ENSP00000364867:D440Y;ENSP00000364860:D580Y	ENSP00000364860:D580Y	D	-	1	0	ROR2	93526859	1.000000	0.71417	0.990000	0.47175	0.046000	0.14306	7.549000	0.82163	2.526000	0.85167	0.561000	0.74099	GAC		0.637	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			Missense_Mutation
OR2K2	26248	broad.mit.edu	37	9	114089965	114089965	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1419-01	TCGA-24-1419-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1419-01	TCGA-24-1419-10	g.chr9:114089965T>A	ENST00000374428.1	-	1	835	c.836A>T	c.(835-837)tAt>tTt	p.Y279F	OR2K2_ENST00000302681.1_Missense_Mutation_p.Y250F			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	279						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y250F(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						AGCCCCATAATACAAAATCAC	0.423																																																1	Substitution - Missense(1)	ovary(1)	9											113.0	112.0	113.0					9																	114089965		2203	4300	6503	113129786	SO:0001583	missense	26248			X64977	CCDS6778.1	9q31.3	2012-08-09			ENSG00000171133	ENSG00000171133		"""GPCR / Class A : Olfactory receptors"""	8264	protein-coding gene	gene with protein product				OR2AR1P		1370859, 17010214	Standard	NM_205859		Approved	HTPCRH06, HSHTPCRH06	uc011lwp.2	Q8NGT1	OTTHUMG00000020488	ENST00000374428.1:c.836A>T	9.37:g.114089965T>A	ENSP00000363550:p.Tyr279Phe		113129786	Q2TA61|Q5VYK4|Q6IFI5	Missense_Mutation	SNP	ENST00000374428.1	37		SNP	49	Broad	.	.	.	.	.	.	.	.	.	.	T	0.023	-1.398695	0.01175	.	.	ENSG00000171133	ENST00000302681;ENST00000374428	T;T	0.00014	9.18;9.18	4.55	2.06	0.26882	GPCR, rhodopsin-like superfamily (1);	0.216160	0.23319	U	0.049480	T	0.00039	0.0001	N	0.00116	-2.08	0.28228	N	0.926226	B	0.12013	0.005	B	0.16289	0.015	T	0.31336	-0.9947	10	0.02654	T	1	.	7.9835	0.30198	0.4879:0.0:0.0:0.5121	.	279	Q8NGT1	OR2K2_HUMAN	F	250;279	ENSP00000305055:Y250F;ENSP00000363550:Y279F	ENSP00000305055:Y250F	Y	-	2	0	OR2K2	113129786	0.001000	0.12720	0.914000	0.36105	0.695000	0.40330	-0.192000	0.09587	0.308000	0.22923	0.482000	0.46254	TAT		0.423	OR2K2-201	KNOWN	basic	protein_coding	protein_coding		NM_205859		Missense_Mutation
NLGN4X	57502	broad.mit.edu	37	X	5821627	5821627	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1419-01	TCGA-24-1419-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1419-01	TCGA-24-1419-10	g.chrX:5821627G>T	ENST00000381095.3	-	5	1719	c.1092C>A	c.(1090-1092)aaC>aaA	p.N364K	NLGN4X_ENST00000381093.2_Missense_Mutation_p.N384K|NLGN4X_ENST00000275857.6_Missense_Mutation_p.N364K|NLGN4X_ENST00000381092.1_Missense_Mutation_p.N364K|NLGN4X_ENST00000538097.1_Missense_Mutation_p.N364K	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	364	Interaction with NRXN1.				adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)	p.N364K(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TGATGTCGTAGTTGAGGAACT	0.597																																																1	Substitution - Missense(1)	ovary(1)	X											38.0	30.0	32.0					X																	5821627		2203	4295	6498	5831627	SO:0001583	missense	57502			AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.1092C>A	X.37:g.5821627G>T	ENSP00000370485:p.Asn364Lys		5831627	Q6UX10|Q9ULG0	Missense_Mutation	SNP	ENST00000381095.3	37	CCDS14126.1	SNP	36	Broad	.	.	.	.	.	.	.	.	.	.	G	5.324	0.245209	0.10077	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.56444	0.46;0.46;0.46;0.46;0.46	3.93	-0.659	0.11424	Carboxylesterase, type B (1);	.	.	.	.	T	0.37128	0.0992	N	0.22421	0.69	0.49213	D	0.999764	B;P;B	0.49358	0.108;0.923;0.068	B;P;B	0.45913	0.05;0.497;0.094	T	0.10965	-1.0607	8	.	.	.	.	8.0577	0.30614	0.5693:0.0:0.4307:0.0	.	421;364;384	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	K	364;384;364;364;364	ENSP00000370485:N364K;ENSP00000370483:N384K;ENSP00000275857:N364K;ENSP00000370482:N364K;ENSP00000439203:N364K	.	N	-	3	2	NLGN4X	5831627	1.000000	0.71417	0.011000	0.14972	0.218000	0.24690	3.062000	0.49971	-0.350000	0.08262	-0.881000	0.02953	AAC		0.597	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		Missense_Mutation
DOCK11	139818	broad.mit.edu	37	X	117706331	117706331	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1419-01	TCGA-24-1419-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1419-01	TCGA-24-1419-10	g.chrX:117706331G>C	ENST00000276202.7	+	11	1144	c.1081G>C	c.(1081-1083)Gaa>Caa	p.E361Q	Y_RNA_ENST00000384135.1_RNA|DOCK11_ENST00000276204.6_Missense_Mutation_p.E361Q	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	361					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E361Q(1)		breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						GCCATTTGAAGAAAAATGCAA	0.333																																																1	Substitution - Missense(1)	ovary(1)	X											105.0	98.0	101.0					X																	117706331		2203	4300	6503	117590359	SO:0001583	missense	139818			AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.1081G>C	X.37:g.117706331G>C	ENSP00000276202:p.Glu361Gln		117590359	A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	CCDS35373.1	SNP	33	Broad	.	.	.	.	.	.	.	.	.	.	G	23.6	4.436264	0.83885	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.58210	0.35;0.35	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.76842	0.4044	M	0.85373	2.75	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.91635	0.972;0.999	T	0.80935	-0.1160	10	0.87932	D	0	-13.7289	18.2895	0.90124	0.0:0.0:1.0:0.0	.	361;361	A6NIW2;Q5JSL3	.;DOC11_HUMAN	Q	361	ENSP00000276204:E361Q;ENSP00000276202:E361Q	ENSP00000276202:E361Q	E	+	1	0	DOCK11	117590359	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	9.282000	0.95840	2.358000	0.79984	0.523000	0.50628	GAA		0.333	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		Missense_Mutation
DDX26B	203522	broad.mit.edu	37	X	134706755	134706755	+	Nonsense_Mutation	SNP	G	G	T			TCGA-24-1419-01	TCGA-24-1419-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1419-01	TCGA-24-1419-10	g.chrX:134706755G>T	ENST00000370752.4	+	11	1637	c.1303G>T	c.(1303-1305)Gaa>Taa	p.E435*	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	435								p.E435*(1)		large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					ACTAGAGTCAGAACGAATACT	0.338																																																1	Substitution - Nonsense(1)	ovary(1)	X											40.0	36.0	38.0					X																	134706755		2203	4300	6503	134534421	SO:0001587	stop_gained	203522			AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"""DEAD-boxes"""	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.1303G>T	X.37:g.134706755G>T	ENSP00000359788:p.Glu435*		134534421	Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Nonsense_Mutation	SNP	ENST00000370752.4	37	CCDS35401.1	SNP	33	Broad	.	.	.	.	.	.	.	.	.	.	G	41	8.930422	0.99006	.	.	ENSG00000165359	ENST00000370752	.	.	.	5.11	5.11	0.69529	.	0.149691	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-9.0064	16.7677	0.85528	0.0:0.0:1.0:0.0	.	.	.	.	X	435	.	ENSP00000359788:E435X	E	+	1	0	DDX26B	134534421	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.420000	0.97426	2.251000	0.74343	0.594000	0.82650	GAA		0.338	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058420.1	NM_182540		Nonsense_Mutation
SPANXN2	494119	broad.mit.edu	37	X	142795567	142795567	+	Silent	SNP	G	G	T			TCGA-24-1419-01	TCGA-24-1419-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1419-01	TCGA-24-1419-10	g.chrX:142795567G>T	ENST00000370498.1	-	2	864	c.111C>A	c.(109-111)ccC>ccA	p.P37P		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	37								p.P37P(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					AGCTCTGTTTGGGGGCTAAGA	0.398																																																1	Substitution - coding silent(1)	ovary(1)	X											117.0	102.0	107.0					X																	142795567		2203	4300	6503	142623233	SO:0001819	synonymous_variant	494119				CCDS35419.1	Xq27.3	2012-06-12			ENSG00000203924	ENSG00000268988			33175	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 7"""	300665				14973187, 17012309	Standard	NM_001009615		Approved	SPANX-N2, CT11.7	uc004fbz.3	Q5MJ10	OTTHUMG00000022583	ENST00000370498.1:c.111C>A	X.37:g.142795567G>T			142623233	Q0ZNM2	Silent	SNP	ENST00000370498.1	37	CCDS35419.1	SNP	47	Broad																																																																																				0.398	SPANXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058621.2	NM_001009615		Silent
TP53BP1	7158	broad.mit.edu	37	15	43767836	43767841	+	In_Frame_Del	DEL	AAGCCA	AAGCCA	-			TCGA-24-1419-01	TCGA-24-1419-10							Unknown	Unknown	Unknown	Phase_I	Capture	---			Illumina GAIIx	TCGA-24-1419-01	TCGA-24-1419-10	g.chr15:43767836_43767841delAAGCCA	ENST00000263801.3	-	9	1244_1249	c.992_997delTGGCTT	c.(991-999)ttggcttcc>tcc	p.LA331del	TP53BP1_ENST00000450115.2_In_Frame_Del_p.LA336del|TP53BP1_ENST00000382039.3_In_Frame_Del_p.LA336del|TP53BP1_ENST00000382044.4_In_Frame_Del_p.LA336del	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	331					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)	p.L331_A332delLA(1)		breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GCAGGAGTGGAAGCCAAAGAACACCC	0.476								Other conserved DNA damage response genes																																								1	Deletion - In frame(1)	ovary(1)	15																																								41555133	SO:0001651	inframe_deletion	7158			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.992_997delTGGCTT	15.37:g.43767836_43767841delAAGCCA	ENSP00000263801:p.Leu331_Ala332del		41555128	F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	In_Frame_Del	DEL	ENST00000263801.3	37	CCDS10096.1	DEL	9	Broad																																																																																				0.476	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			In_Frame_Del
