#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_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
MT-CYB	4519	broad.mit.edu	37	M	14924	14924	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A3FQ-06A-11D-A21A-08	TCGA-EM-A3FQ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ea2466-3e87-4ec2-a15c-0722473852e7	2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e	g.chrM:14924T>C	ENST00000361789.2	+	1	178	c.178T>C	c.(178-180)Tca>Cca	p.S60P	MT-TH_ENST00000387441.1_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TE_ENST00000387459.1_RNA|MT-ND6_ENST00000361681.2_5'Flank|MT-TT_ENST00000387460.2_RNA|MT-TP_ENST00000387461.2_RNA			P00156	CYB_HUMAN	mitochondrially encoded cytochrome b	60					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						CACCAGACGCCTCAACCGCCT	0.498																																						ENST00000361789.2																			0				breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						c.(178-180)Tca>Cca		mitochondrially encoded cytochrome b																																				SO:0001583	missense	4519							g.chrM:14924T>C			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198727	ENSG00000198727		"""Cytochrome b genes"", ""Mitochondrial respiratory chain complex / Complex III"""	7427	protein-coding gene	gene with protein product		516020	"""cytochrome b"""	MTCYB			Standard			Approved	COB, CYTB, UQCR3		P00156		ENST00000361789.2:c.178T>C	M.37:g.14924T>C	ENSP00000354554:p.Ser60Pro						p.60_60insP							1	178	+								Q34786|Q8HBR6|Q8HNQ0|Q8HNQ1|Q8HNQ9|Q8HNR4|Q8HNR7|Q8W7V8|Q8WCV9|Q8WCY2|Q8WCY7|Q8WCY8|Q9B1A6|Q9B1B6|Q9B1B8|Q9B1D4|Q9B1X6|Q9B2V0|Q9B2V8|Q9B2W0|Q9B2W3|Q9B2W8|Q9B2X1|Q9B2X7|Q9B2X9|Q9B2Y3|Q9B2Z0|Q9B2Z4|Q9T6H6|Q9T9Y0|Q9TEH4	Missense_Mutation	SNP	ENST00000361789.2	37	c.178T>C																																																																																					0.498	MT-CYB-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024038		4	53	0	0	0	1	0	4	53				
COL27A1	85301	broad.mit.edu	37	9	116931244	116931244	+	Missense_Mutation	SNP	A	A	C			TCGA-EM-A3FQ-06A-11D-A21A-08	TCGA-EM-A3FQ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ea2466-3e87-4ec2-a15c-0722473852e7	2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e	g.chr9:116931244A>C	ENST00000356083.3	+	3	1800	c.1409A>C	c.(1408-1410)aAg>aCg	p.K470T		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	470	Pro-rich.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CATGCCAGTAAGCCGGCCTCT	0.592																																						ENST00000356083.3																			0				central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.(1408-1410)aAg>aCg		collagen, type XXVII, alpha 1							147.0	168.0	161.0					9																	116931244		2203	4300	6503	SO:0001583	missense	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:116931244A>C	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.1409A>C	9.37:g.116931244A>C	ENSP00000348385:p.Lys470Thr						p.K470T	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN			3	1800	+			470			Pro-rich.		Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	c.1409A>C	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	A	9.488	1.099940	0.20552	.	.	ENSG00000196739	ENST00000356083;ENST00000357257;ENST00000374106;ENST00000451716	D;D	0.91996	-2.65;-2.95	4.7	3.54	0.40534	.	.	.	.	.	D	0.86431	0.5931	N	0.19112	0.55	0.23043	N	0.998389	B;P	0.48162	0.18;0.906	B;P	0.46585	0.017;0.521	T	0.76435	-0.2960	9	0.37606	T	0.19	.	7.6003	0.28073	0.8105:0.0:0.0:0.1895	.	470;417	Q8IZC6;Q5T1U7	CORA1_HUMAN;.	T	470;470;417;417	ENSP00000348385:K470T;ENSP00000391328:K417T	ENSP00000348385:K470T	K	+	2	0	COL27A1	115971065	0.005000	0.15991	0.192000	0.23308	0.065000	0.16274	0.217000	0.17603	0.631000	0.30412	0.379000	0.24179	AAG		0.592	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		102	150	0	0	0	1	0	102	150				
ZNF835	90485	broad.mit.edu	37	19	57176120	57176120	+	Silent	SNP	C	C	T			TCGA-EM-A3FQ-06A-11D-A21A-08	TCGA-EM-A3FQ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ea2466-3e87-4ec2-a15c-0722473852e7	2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e	g.chr19:57176120C>T	ENST00000537055.2	-	2	678	c.447G>A	c.(445-447)caG>caA	p.Q149Q		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	149					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GGTGCACGCTCTGGCTGAAGG	0.637																																						ENST00000537055.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						c.(445-447)caG>caA		zinc finger protein 835							52.0	57.0	55.0					19																	57176120		2203	4300	6503	SO:0001819	synonymous_variant	90485							g.chr19:57176120C>T	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.447G>A	19.37:g.57176120C>T							p.Q149Q	NM_001005850.2	NP_001005850.2					2	678	-								B7Z5Y0|G3V1S0	Silent	SNP	ENST00000537055.2	37	c.447G>A	CCDS56105.1																																																																																				0.637	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		7	65	0	0	0	1	0	7	65				
LINC01410	103352539	broad.mit.edu	37	9	66458063	66458063	+	lincRNA	SNP	G	G	T	rs199542601		TCGA-EM-A3FQ-06A-11D-A21A-08	TCGA-EM-A3FQ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ea2466-3e87-4ec2-a15c-0722473852e7	2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e	g.chr9:66458063G>T	ENST00000424345.1	+	0	67				RNA5SP283_ENST00000365604.1_RNA																							GCACGGGGGCGGTCAACGGGG	0.657																																						ENST00000424345.1																			0																																																			0							g.chr9:66458063G>T																													9.37:g.66458063G>T														0	67	+									RNA	SNP	ENST00000424345.1	37																																																																																						0.657	RP11-262H14.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000128851.1			3	5	1	0	1	1	1	3	5				
NUTM2B-AS1	101060691	broad.mit.edu	37	10	81444997	81444997	+	RNA	SNP	T	T	C	rs370178959		TCGA-EM-A3FQ-06A-11D-A21A-08	TCGA-EM-A3FQ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ea2466-3e87-4ec2-a15c-0722473852e7	2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e	g.chr10:81444997T>C	ENST00000600376.1	-	0	54				RP11-119F19.2_ENST00000596088.1_RNA																							ACAACAATTTTCGGGCTTGCA	0.612																																						ENST00000600376.1																			0																																																			0							g.chr10:81444997T>C																													10.37:g.81444997T>C						RP11-119F19.2_ENST00000596088.1_RNA								0	54	-									RNA	SNP	ENST00000600376.1	37																																																																																						0.612	RP11-119F19.2-004	KNOWN	basic	antisense	antisense	OTTHUMT00000461766.1			3	6	0	0	0	1	0	3	6				
DZIP3	9666	broad.mit.edu	37	3	108391411	108391411	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A3FQ-06A-11D-A21A-08	TCGA-EM-A3FQ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ea2466-3e87-4ec2-a15c-0722473852e7	2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e	g.chr3:108391411C>A	ENST00000361582.3	+	23	2727	c.2497C>A	c.(2497-2499)Cag>Aag	p.Q833K	DZIP3_ENST00000463306.1_Missense_Mutation_p.Q833K	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	833					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						TTTCAGATCTCAGTGGGAAAT	0.363																																						ENST00000361582.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						c.(2497-2499)Cag>Aag		DAZ interacting zinc finger protein 3							95.0	92.0	93.0					3																	108391411		2203	4299	6502	SO:0001583	missense	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108391411C>A	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.2497C>A	3.37:g.108391411C>A	ENSP00000355028:p.Gln833Lys					DZIP3_ENST00000463306.1_Missense_Mutation_p.Q833K	p.Q833K	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN			23	2727	+			833					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	ENST00000361582.3	37	c.2497C>A	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.342799	0.41498	.	.	ENSG00000198919	ENST00000361582;ENST00000463306	D;D	0.83914	-1.78;-1.78	4.48	1.64	0.23874	.	0.508491	0.17307	N	0.179037	T	0.75206	0.3818	L	0.50333	1.59	0.23689	N	0.997101	P;P	0.48089	0.787;0.905	B;P	0.46026	0.219;0.501	T	0.62964	-0.6742	10	0.12766	T	0.61	-0.4816	4.5295	0.11997	0.0:0.6112:0.1841:0.2047	.	451;833	D3DN61;Q86Y13	.;DZIP3_HUMAN	K	833	ENSP00000355028:Q833K;ENSP00000419981:Q833K	ENSP00000355028:Q833K	Q	+	1	0	DZIP3	109874101	1.000000	0.71417	0.988000	0.46212	0.995000	0.86356	1.910000	0.39927	0.224000	0.20940	0.655000	0.94253	CAG		0.363	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		4	32	1	0	0.00024832	1	0.000260736	4	32				
MUC7	4589	broad.mit.edu	37	4	71347138	71347138	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3FQ-06A-11D-A21A-08	TCGA-EM-A3FQ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ea2466-3e87-4ec2-a15c-0722473852e7	2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e	g.chr4:71347138C>T	ENST00000304887.5	+	3	867	c.677C>T	c.(676-678)cCa>cTa	p.P226L	MUC7_ENST00000456088.1_Missense_Mutation_p.P226L|MUC7_ENST00000413702.1_Missense_Mutation_p.P226L	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	226	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.P226L(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CCAGCTCCACCATCTTCCTCA	0.582																																						ENST00000413702.1																			1	Substitution - Missense(1)	p.P226L(1)	endometrium(1)	central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(676-678)cCa>cTa		mucin 7, secreted							433.0	365.0	388.0					4																	71347138		2203	4300	6503	SO:0001583	missense	4589					extracellular region	protein binding	g.chr4:71347138C>T	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.677C>T	4.37:g.71347138C>T	ENSP00000302021:p.Pro226Leu					MUC7_ENST00000456088.1_Missense_Mutation_p.P226L|MUC7_ENST00000304887.5_Missense_Mutation_p.P226L	p.P226L	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	965	+			226			Thr-rich.		Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	c.677C>T	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	C	9.454	1.091388	0.20471	.	.	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.64618	-0.11;-0.11;-0.11	1.94	-3.88	0.04205	.	.	.	.	.	T	0.39462	0.1079	N	0.19112	0.55	0.09310	N	1	P	0.41784	0.762	B	0.39379	0.298	T	0.28364	-1.0046	8	.	.	.	5.0E-4	6.1445	0.20278	0.5267:0.3242:0.1491:0.0	.	226	Q8TAX7	MUC7_HUMAN	L	226	ENSP00000407422:P226L;ENSP00000400585:P226L;ENSP00000302021:P226L	.	P	+	2	0	MUC7	71381727	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.296000	0.19083	-1.606000	0.01591	-1.058000	0.02302	CCA		0.582	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		5	236	0	0	0	1	0	5	236				
SLC7A6	9057	broad.mit.edu	37	16	68309107	68309107	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A3FQ-06A-11D-A21A-08	TCGA-EM-A3FQ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ea2466-3e87-4ec2-a15c-0722473852e7	2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e	g.chr16:68309107G>C	ENST00000566454.1	+	4	747	c.478G>C	c.(478-480)Gat>Cat	p.D160H	SLC7A6_ENST00000219343.6_Missense_Mutation_p.D160H	NM_001076785.2	NP_001070253.1			solute carrier family 7 (amino acid transporter light chain, y+L system), member 6											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)		CCCCAGCTGTGATCCCCCATA	0.582																																						ENST00000566454.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	16						c.(478-480)Gat>Cat		solute carrier family 7 (amino acid transporter light chain, y+L system), member 6							106.0	94.0	98.0					16																	68309107		2198	4300	6498	SO:0001583	missense	9057				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|antiporter activity	g.chr16:68309107G>C	D87432	CCDS32470.1	16q22.1	2013-07-15	2011-07-12		ENSG00000103064	ENSG00000103064		"""Solute carriers"""	11064	protein-coding gene	gene with protein product		605641				9878049	Standard	NM_001076785		Approved	y+LAT-2, KIAA0245, LAT3, LAT-2	uc002evu.2	Q92536	OTTHUMG00000176544	ENST00000566454.1:c.478G>C	16.37:g.68309107G>C	ENSP00000455064:p.Asp160His					SLC7A6_ENST00000219343.6_Missense_Mutation_p.D160H	p.D160H	NM_001076785.2	NP_001070253.1	Q92536	YLAT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)	4	747	+		Ovarian(137;0.0563)	160						Missense_Mutation	SNP	ENST00000566454.1	37	c.478G>C	CCDS32470.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.138435	0.37728	.	.	ENSG00000103064	ENST00000219343;ENST00000379152	D;D	0.90004	-2.6;-2.6	5.76	1.64	0.23874	Amino acid permease domain (1);	0.519429	0.24083	N	0.041719	D	0.82351	0.5018	L	0.50919	1.6	0.41256	D	0.98674	B	0.06786	0.001	B	0.15484	0.013	T	0.71873	-0.4461	10	0.46703	T	0.11	.	4.4967	0.11840	0.3078:0.0:0.5469:0.1453	.	160	Q92536	YLAT2_HUMAN	H	160	ENSP00000219343:D160H;ENSP00000368448:D160H	ENSP00000219343:D160H	D	+	1	0	SLC7A6	66866608	0.830000	0.29337	0.950000	0.38849	0.915000	0.54546	0.949000	0.29109	0.087000	0.17167	0.650000	0.86243	GAT		0.582	SLC7A6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432466.1	NM_003983		8	177	0	0	0	1	0	8	177				
MT-CO2	4513	broad.mit.edu	37	M	7843	7843	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3FQ-06A-11D-A21A-08	TCGA-EM-A3FQ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ea2466-3e87-4ec2-a15c-0722473852e7	2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e	g.chrM:7843A>G	ENST00000361739.1	+	1	258	c.258A>G	c.(256-258)atA>atG	p.I86M	MT-ND4_ENST00000361381.2_5'Flank|MT-ATP8_ENST00000361851.1_5'Flank|MT-CO3_ENST00000362079.2_5'Flank|MT-TR_ENST00000387439.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-ND3_ENST00000361227.2_5'Flank|MT-TC_ENST00000387405.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-TG_ENST00000387429.1_RNA|MT-TW_ENST00000387382.1_RNA|MT-ND4L_ENST00000361335.1_5'Flank|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TS1_ENST00000387416.2_RNA			P00403	COX2_HUMAN	mitochondrially encoded cytochrome c oxidase II	86					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|respiratory chain complex IV (GO:0045277)	copper ion binding (GO:0005507)|cytochrome-c oxidase activity (GO:0004129)			endometrium(5)|kidney(8)|lung(2)|pancreas(3)|prostate(1)	19						ATCCTTTACATAACAGACGAG	0.498																																						ENST00000361739.1																			0				endometrium(5)|kidney(8)|lung(2)|pancreas(3)|prostate(1)	19						c.(256-258)atA>atG		mitochondrially encoded cytochrome c oxidase II																																				SO:0001583	missense	4513							g.chrM:7843A>G			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198712	ENSG00000198712		"""Mitochondrial respiratory chain complex / Complex IV"""	7421	protein-coding gene	gene with protein product		516040	"""cytochrome c oxidase II"""	MTCO2		1712754, 1989603	Standard			Approved	COX2, CO2		P00403		ENST00000361739.1:c.258A>G	M.37:g.7843A>G	ENSP00000354876:p.Ile86Met						p.I86M							1	258	+								Q37526	Missense_Mutation	SNP	ENST00000361739.1	37	c.258A>G																																																																																					0.498	MT-CO2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024029		3	84	0	0	0	1	0	3	84				
TBP	6908	broad.mit.edu	37	6	170871082	170871082	+	Silent	SNP	G	G	A	rs548097837	byFrequency	TCGA-EM-A3FQ-06A-11D-A21A-08	TCGA-EM-A3FQ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ea2466-3e87-4ec2-a15c-0722473852e7	2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e	g.chr6:170871082G>A	ENST00000392092.2	+	3	537	c.258G>A	c.(256-258)caG>caA	p.Q86Q	TBP_ENST00000230354.6_Silent_p.Q86Q|TBP_ENST00000540980.1_Silent_p.Q66Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	86	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q86Q(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.612													G|||	15	0.00299521	0.0023	0.0014	5008	,	,		13520	0.0		0.004	False		,,,				2504	0.0072					ENST00000392092.2																			2	Substitution - coding silent(2)	p.Q86Q(2)	lung(1)|central_nervous_system(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(256-258)caG>caA		TATA box binding protein							14.0	20.0	18.0					6																	170871082		1927	3773	5700	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871082G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.258G>A	6.37:g.170871082G>A						TBP_ENST00000540980.1_Silent_p.Q66Q|TBP_ENST00000230354.6_Silent_p.Q86Q	p.Q86Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	537	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	86			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.258G>A	CCDS5315.1																																																																																				0.612	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		3	21	0	0	0	1	0	3	21				
CDHR5	53841	broad.mit.edu	37	11	618899	618899	+	Missense_Mutation	SNP	C	C	T	rs561325734	byFrequency	TCGA-EM-A3FQ-06A-11D-A21A-08	TCGA-EM-A3FQ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ea2466-3e87-4ec2-a15c-0722473852e7	2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e	g.chr11:618899C>T	ENST00000358353.3	-	14	1982	c.1660G>A	c.(1660-1662)Ggt>Agt	p.G554S	CDHR5_ENST00000349570.7_Intron|IRF7_ENST00000397570.1_5'Flank|CDHR5_ENST00000397542.2_Missense_Mutation_p.G554S|IRF7_ENST00000397574.2_5'Flank|IRF7_ENST00000330243.5_5'Flank|IRF7_ENST00000397562.3_5'Flank			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	554	4 X 31 AA approximate tandem repeats.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GTTCCCACACCGGGGGGCATC	0.667													C|||	2	0.000399361	0.0015	0.0	5008	,	,		16526	0.0		0.0	False		,,,				2504	0.0					ENST00000358353.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						c.(1660-1662)Ggt>Agt		cadherin-related family member 5							90.0	101.0	97.0					11																	618899		2203	4300	6503	SO:0001583	missense	53841				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:618899C>T	AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"""Cadherins / Cadherin-related"""	7521	protein-coding gene	gene with protein product		606839	"""mucin and cadherin-like"", ""mucin-like protocadherin"""	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.1660G>A	11.37:g.618899C>T	ENSP00000351118:p.Gly554Ser					CDHR5_ENST00000349570.7_Intron|CDHR5_ENST00000397542.2_Missense_Mutation_p.G554S	p.G554S			Q9HBB8	CDHR5_HUMAN			14	1982	-			554			4 X 31 AA approximate tandem repeats.		C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Missense_Mutation	SNP	ENST00000358353.3	37	c.1660G>A	CCDS7707.1	.	.	.	.	.	.	.	.	.	.	C	1.462	-0.562199	0.03939	.	.	ENSG00000099834	ENST00000397542;ENST00000358353	T;T	0.43294	0.95;0.95	3.19	-6.38	0.01957	.	.	.	.	.	T	0.12860	0.0312	N	0.12182	0.205	0.09310	N	1	B;P	0.43431	0.047;0.807	B;B	0.29524	0.005;0.103	T	0.17930	-1.0353	9	0.25106	T	0.35	.	2.2837	0.04121	0.1288:0.3711:0.131:0.3692	.	548;554	Q9HBB8-4;Q9HBB8	.;CDHR5_HUMAN	S	554	ENSP00000380676:G554S;ENSP00000351118:G554S	ENSP00000351118:G554S	G	-	1	0	CDHR5	608899	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.511000	0.02260	-2.250000	0.00701	-0.377000	0.06932	GGT		0.667	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2	NM_021924		4	187	0	0	0	1	0	4	187				
PPP2R3B	28227	broad.mit.edu	37	X	347131	347131	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3FQ-06A-11D-A21A-08	TCGA-EM-A3FQ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ea2466-3e87-4ec2-a15c-0722473852e7	2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e	g.chrX:347131C>T	ENST00000390665.3	-	1	314	c.296G>A	c.(295-297)gGc>gAc	p.G99D		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	99					cell cycle arrest (GO:0007050)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|phosphoprotein phosphatase activity (GO:0004721)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCTACGGGTGCCTCGAACGTG	0.701																																						ENST00000390665.3																			0				endometrium(5)|lung(5)|skin(1)	11						c.(295-297)gGc>gAc		protein phosphatase 2, regulatory subunit B'', beta																																				SO:0001583	missense	28227				cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity	g.chrX:347131C>T	AF215840	CCDS14104.1	Xp22.3 and Yp11.3	2013-01-10	2010-06-18		ENSG00000167393	ENSG00000167393		"""Pseudoautosomal regions / PAR1"", ""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	13417	protein-coding gene	gene with protein product		300339	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'', beta"""	PPP2R3L		11173861	Standard	NM_013239		Approved	PPP2R3LY, PR48	uc004cpg.3	Q9Y5P8	OTTHUMG00000021052	ENST00000390665.3:c.296G>A	X.37:g.347131C>T	ENSP00000375080:p.Gly99Asp						p.G99D	NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN			1	314	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	99					Q6P4G9|Q7RTT1|Q96H01	Missense_Mutation	SNP	ENST00000390665.3	37	c.296G>A	CCDS14104.1	.	.	.	.	.	.	.	.	.	.	C	1.611	-0.524119	0.04141	.	.	ENSG00000167393	ENST00000390665	T	0.17691	2.26	1.07	1.07	0.20283	.	1825.230000	0.00166	U	0.000000	T	0.13970	0.0338	L	0.40543	1.245	0.09310	N	1	B	0.33073	0.396	B	0.31614	0.133	T	0.21586	-1.0241	10	0.13470	T	0.59	.	5.5149	0.16900	0.0:1.0:0.0:0.0	.	99	Q9Y5P8	P2R3B_HUMAN	D	99	ENSP00000375080:G99D	ENSP00000375080:G99D	G	-	2	0	PPP2R3B	267131	0.166000	0.22962	0.012000	0.15200	0.005000	0.04900	0.447000	0.21710	0.563000	0.29222	0.401000	0.26515	GGC		0.701	PPP2R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055577.2	NM_013239		6	65	0	0	0	1	0	6	65				
PRDM9	56979	broad.mit.edu	37	5	23527693	23527693	+	Silent	SNP	T	T	C			TCGA-EM-A3FQ-06A-11D-A21A-08	TCGA-EM-A3FQ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ea2466-3e87-4ec2-a15c-0722473852e7	2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e	g.chr5:23527693T>C	ENST00000296682.3	+	11	2678	c.2496T>C	c.(2494-2496)taT>taC	p.Y832Y		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	832					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.Y832Y(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGAAGCCCTATGTCTGCAGGG	0.587										HNSCC(3;0.000094)																												ENST00000296682.3																			1	Substitution - coding silent(1)	p.Y832Y(1)	endometrium(1)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(2494-2496)taT>taC		PR domain containing 9							48.0	60.0	56.0					5																	23527693		2166	4285	6451	SO:0001819	synonymous_variant	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23527693T>C	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.2496T>C	5.37:g.23527693T>C		HNSCC(3;0.000094)					p.Y832Y	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			11	2678	+			832					B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	37	c.2496T>C	CCDS43307.1																																																																																				0.587	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		4	146	0	0	0	1	0	4	146				
TMEM132B	114795	broad.mit.edu	37	12	126138656	126138656	+	Silent	SNP	G	G	A	rs191297957		TCGA-EM-A3FQ-06A-11D-A21A-08	TCGA-EM-A3FQ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ea2466-3e87-4ec2-a15c-0722473852e7	2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e	g.chr12:126138656G>A	ENST00000299308.3	+	9	2645	c.2637G>A	c.(2635-2637)ccG>ccA	p.P879P	TMEM132B_ENST00000535886.1_Silent_p.P391P	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	879						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GGAAGTCACCGGACCCCAATA	0.517													G|||	1	0.000199681	0.0	0.0	5008	,	,		21313	0.0		0.001	False		,,,				2504	0.0					ENST00000299308.3																			0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107						c.(2635-2637)ccG>ccA		transmembrane protein 132B		G		1,3873		0,1,1936	66.0	64.0	65.0		2637	-5.6	0.0	12		65	1,8273		0,1,4136	no	coding-synonymous	TMEM132B	NM_052907.2		0,2,6072	AA,AG,GG		0.0121,0.0258,0.0165		879/1079	126138656	2,12146	1937	4137	6074	SO:0001819	synonymous_variant	114795					integral to membrane		g.chr12:126138656G>A	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.2637G>A	12.37:g.126138656G>A						TMEM132B_ENST00000535886.1_Silent_p.P391P	p.P879P	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	9	2645	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		879					A2RRG8|Q8NA73|Q96JN9|Q96PY1	Silent	SNP	ENST00000299308.3	37	c.2637G>A	CCDS41859.1																																																																																				0.517	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		25	26	0	0	0	1	0	25	26				
ZNF208	7757	broad.mit.edu	37	19	22155896	22155896	+	Missense_Mutation	SNP	A	A	C			TCGA-EM-A3FQ-06A-11D-A21A-08	TCGA-EM-A3FQ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ea2466-3e87-4ec2-a15c-0722473852e7	2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e	g.chr19:22155896A>C	ENST00000397126.4	-	4	2088	c.1940T>G	c.(1939-1941)aTt>aGt	p.I647S	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	647					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGAGACCTTAATAAAGGTTTT	0.398																																						ENST00000397126.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(1939-1941)aTt>aGt		zinc finger protein 208							108.0	112.0	110.0					19																	22155896		2126	4263	6389	SO:0001583	missense	7757							g.chr19:22155896A>C	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1940T>G	19.37:g.22155896A>C	ENSP00000380315:p.Ile647Ser					ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	p.I647S	NM_007153.3	NP_009084.2					4	2088	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.1940T>G	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	A	0.001	-3.852850	0.00004	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.34472	1.36	2.49	-4.98	0.03019	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12987	0.0315	.	.	.	0.09310	N	1	B	0.25441	0.126	B	0.28385	0.089	T	0.08932	-1.0698	8	0.02654	T	1	.	3.9444	0.09343	0.0966:0.28:0.437:0.1864	.	547	O43345	ZN208_HUMAN	S	647;547	ENSP00000380315:I647S	ENSP00000380315:I647S	I	-	2	0	ZNF208	21947736	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-9.082000	0.00014	-4.116000	0.00072	-4.061000	0.00012	ATT		0.398	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		3	41	0	0	0	1	0	3	41				
PCDH11X	27328	broad.mit.edu	37	X	91133712	91133712	+	Missense_Mutation	SNP	G	G	A	rs377250651		TCGA-EM-A3FQ-06A-11D-A21A-08	TCGA-EM-A3FQ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ea2466-3e87-4ec2-a15c-0722473852e7	2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e	g.chrX:91133712G>A	ENST00000373094.1	+	2	3318	c.2473G>A	c.(2473-2475)Gtt>Att	p.V825I	PCDH11X_ENST00000406881.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000298274.8_Missense_Mutation_p.V825I|PCDH11X_ENST00000395337.2_Missense_Mutation_p.V825I|PCDH11X_ENST00000361655.2_Missense_Mutation_p.V825I|PCDH11X_ENST00000373097.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000504220.2_Missense_Mutation_p.V825I|PCDH11X_ENST00000361724.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000373088.1_Missense_Mutation_p.V825I	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	825					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CATAACTGTCGTTGTAGTTAT	0.463																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(2473-2475)Gtt>Att		protocadherin 11 X-linked		G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	1,3834		0,1,1631,571	52.0	45.0	48.0		2473,2473,2473,2473,2473,2473,2473,2473	-0.9	0.0	X		48	0,6719		0,0,2425,1869	no	missense,missense,missense,missense,missense,missense,missense,missense	PCDH11X	NM_032969.3,NM_032968.3,NM_032967.2,NM_014522.1,NM_001168363.1,NM_001168362.1,NM_001168361.1,NM_001168360.1	29,29,29,29,29,29,29,29	0,1,4056,2440	AA,AG,GG,G		0.0,0.0261,0.0095	benign,benign,benign,benign,benign,benign,benign,benign	825/1338,825/1348,825/1026,825/1022,825/1330,825/1311,825/1066,825/1340	91133712	1,10553	2203	4294	6497	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91133712G>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.2473G>A	X.37:g.91133712G>A	ENSP00000362186:p.Val825Ile					PCDH11X_ENST00000395337.2_Missense_Mutation_p.V825I|PCDH11X_ENST00000504220.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000361724.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000298274.8_Missense_Mutation_p.V825I|PCDH11X_ENST00000373097.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000406881.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000373088.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000361655.2_Missense_Mutation_p.V825I	p.V825I	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			2	3318	+			825					A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.2473G>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.097495	0.00034	2.61E-4	0.0	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.26957	1.7;1.7;1.7;1.7;1.7;1.7;1.7;1.7;1.7	5.15	-0.908	0.10517	Protocadherin (1);	0.222920	0.44097	N	0.000483	T	0.05090	0.0136	N	0.00583	-1.355	0.24408	N	0.994678	B;B;B;B;B;B;B;B	0.12013	0.004;0.004;0.004;0.004;0.004;0.005;0.004;0.002	B;B;B;B;B;B;B;B	0.11329	0.003;0.003;0.003;0.003;0.003;0.006;0.003;0.003	T	0.42982	-0.9419	10	0.02654	T	1	.	9.8467	0.41032	0.6433:0.0:0.3567:0.0	.	825;825;825;825;825;825;825;825	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	I	825	ENSP00000378746:V825I;ENSP00000362186:V825I;ENSP00000362189:V825I;ENSP00000355040:V825I;ENSP00000362180:V825I;ENSP00000423762:V825I;ENSP00000355105:V825I;ENSP00000384758:V825I;ENSP00000298274:V825I	ENSP00000298274:V825I	V	+	1	0	PCDH11X	91020368	0.848000	0.29623	0.031000	0.17742	0.033000	0.12548	1.274000	0.33132	-0.109000	0.12044	-0.365000	0.07479	GTT		0.463	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		24	42	0	0	0	1	0	24	42				
WDFY2	115825	broad.mit.edu	37	13	52301855	52301855	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3FQ-06A-11D-A21A-08	TCGA-EM-A3FQ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ea2466-3e87-4ec2-a15c-0722473852e7	2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e	g.chr13:52301855C>T	ENST00000298125.5	+	6	707	c.527C>T	c.(526-528)tCa>tTa	p.S176L		NM_052950.3	NP_443182.1	Q96P53	WDFY2_HUMAN	WD repeat and FYVE domain containing 2	176							metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16		Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191)		GBM - Glioblastoma multiforme(99;9e-08)		GGTGACCACTCAGGCCAAGTA	0.403																																						ENST00000298125.5																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						c.(526-528)tCa>tTa		WD repeat and FYVE domain containing 2							143.0	128.0	133.0					13																	52301855		2203	4300	6503	SO:0001583	missense	115825						metal ion binding	g.chr13:52301855C>T	AF411978	CCDS9429.1	13q14.12	2013-01-09	2003-03-13		ENSG00000139668	ENSG00000139668		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20482	protein-coding gene	gene with protein product		610418	"""WD40 and FYVE domain containing 2"""				Standard	NM_052950		Approved	ZFYVE22	uc001vfp.3	Q96P53	OTTHUMG00000017407	ENST00000298125.5:c.527C>T	13.37:g.52301855C>T	ENSP00000298125:p.Ser176Leu						p.S176L	NM_052950.3	NP_443182.1	Q96P53	WDFY2_HUMAN		GBM - Glioblastoma multiforme(99;9e-08)	6	707	+		Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191)	176					B1AL86|Q96CS1	Missense_Mutation	SNP	ENST00000298125.5	37	c.527C>T	CCDS9429.1	.	.	.	.	.	.	.	.	.	.	C	34	5.386805	0.95967	.	.	ENSG00000139668	ENST00000298125	T	0.67171	-0.25	5.65	5.65	0.86999	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.109197	0.64402	D	0.000004	T	0.82148	0.4974	M	0.74647	2.275	0.80722	D	1	D;D	0.57899	0.981;0.981	D;D	0.69824	0.966;0.95	D	0.83595	0.0125	10	0.87932	D	0	-10.0638	18.7245	0.91710	0.0:1.0:0.0:0.0	.	73;176	Q96LK4;Q96P53	.;WDFY2_HUMAN	L	176	ENSP00000298125:S176L	ENSP00000298125:S176L	S	+	2	0	WDFY2	51199856	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.440000	0.80464	2.652000	0.90054	0.650000	0.86243	TCA		0.403	WDFY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045985.3	NM_052950		10	74	0	0	0	1	0	10	74				
PROX1-AS1	100505832	broad.mit.edu	37	1	214090692	214090694	+	RNA	DEL	TCC	TCC	-	rs375970155		TCGA-EM-A3FQ-06A-11D-A21A-08	TCGA-EM-A3FQ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ea2466-3e87-4ec2-a15c-0722473852e7	2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e	g.chr1:214090692_214090694delTCC	ENST00000433082.2	-	0	195				PROX1-AS1_ENST00000601854.1_RNA|PROX1-AS1_ENST00000601907.1_RNA|PROX1-AS1_ENST00000600591.1_RNA|PROX1-AS1_ENST00000593620.1_RNA|PROX1-AS1_ENST00000601335.1_RNA|PROX1-AS1_ENST00000413560.1_RNA|PROX1-AS1_ENST00000598105.1_RNA|PROX1-AS1_ENST00000601744.1_RNA					PROX1 antisense RNA 1																		ctccttctgttcctcctcctcct	0.488																																						ENST00000433082.2																			0																																																			0							g.chr1:214090692_214090694delTCC	AK092251		1q32.3	2012-10-12	2012-08-15		ENSG00000230461	ENSG00000230461		"""Long non-coding RNAs"""	43656	non-coding RNA	RNA, long non-coding			"""PROX1 antisense RNA 1 (non-protein coding)"""				Standard	XR_248694		Approved				OTTHUMG00000036947		1.37:g.214090701_214090703delTCC						PROX1-AS1_ENST00000600591.1_RNA|PROX1-AS1_ENST00000601854.1_RNA|PROX1-AS1_ENST00000601744.1_RNA|PROX1-AS1_ENST00000413560.1_RNA|PROX1-AS1_ENST00000601907.1_RNA|PROX1-AS1_ENST00000593620.1_RNA|PROX1-AS1_ENST00000601335.1_RNA|PROX1-AS1_ENST00000598105.1_RNA								0	195	-									RNA	DEL	ENST00000433082.2	37																																																																																						0.488	PROX1-AS1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000089728.2	NR_037850		3	6						3	6	---	---	---	---
RP1-230L10.1	0	broad.mit.edu	37	6	164134479	164134480	+	lincRNA	INS	-	-	C	rs541921515|rs562207595	byFrequency	TCGA-EM-A3FQ-06A-11D-A21A-08	TCGA-EM-A3FQ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ea2466-3e87-4ec2-a15c-0722473852e7	2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e	g.chr6:164134479_164134480insC	ENST00000452944.1	+	0	102																											tctcctccccaccccaccctct	0.644													-|CCCC|CCCCC|cryptic_indel	1006	0.200879	0.2564	0.3213	5008	,	,		2652	0.0962		0.1968	False		,,,				2504	0.1524					ENST00000452944.1																			0																																																			0							g.chr6:164134479_164134480insC																													6.37:g.164134483_164134483dupC														0	102	+									RNA	INS	ENST00000452944.1	37																																																																																						0.644	RP1-230L10.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000043020.1			4	9						4	9	---	---	---	---
PRSS51	346702	broad.mit.edu	37	8	10373507	10373508	+	RNA	INS	-	-	T			TCGA-EM-A3FQ-06A-11D-A21A-08	TCGA-EM-A3FQ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ea2466-3e87-4ec2-a15c-0722473852e7	2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e	g.chr8:10373507_10373508insT	ENST00000523024.1	-	0	156				PRSS51_ENST00000521149.1_RNA					protease, serine, 51																		AGTGTTGTTGAttttttgtttt	0.505																																						ENST00000523024.1																			0																																																			0							g.chr8:10373507_10373508insT			8p23.1	2013-01-16			ENSG00000253649	ENSG00000253649			37321	other	unknown							Standard			Approved				OTTHUMG00000163805		8.37:g.10373513_10373513dupT						PRSS51_ENST00000521149.1_RNA								0	156	-									RNA	INS	ENST00000523024.1	37																																																																																						0.505	PRSS51-002	KNOWN	basic	antisense	antisense	OTTHUMT00000375669.1			2	4						2	4	---	---	---	---
AKT1	207	broad.mit.edu	37	14	105242073	105242075	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-EM-A3FQ-06A-11D-A21A-08	TCGA-EM-A3FQ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ea2466-3e87-4ec2-a15c-0722473852e7	2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e	g.chr14:105242073_105242075delCTC	ENST00000554581.1	-	4	1829_1831	c.349_351delGAG	c.(349-351)gagdel	p.E117del	AKT1_ENST00000544168.1_In_Frame_Del_p.E55del|AKT1_ENST00000554585.1_5'Flank|AKT1_ENST00000402615.2_In_Frame_Del_p.E117del|AKT1_ENST00000554192.1_5'Flank|AKT1_ENST00000554848.1_In_Frame_Del_p.E117del|AKT1_ENST00000407796.2_In_Frame_Del_p.E117del|AKT1_ENST00000555528.1_In_Frame_Del_p.E117del|AKT1_ENST00000555458.1_5'Flank|AKT1_ENST00000349310.3_In_Frame_Del_p.E117del			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	117					activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	GGAAGTCCATCTCCTCCTCCTCC	0.631		1	Mis		"""breast, colorectal, ovarian, NSCLC"""																																	ENST00000554581.1		1		Dom	yes		14	14q32.32	207	Mis	v-akt murine thymoma viral oncogene homolog 1			E			"""breast, colorectal, ovarian, NSCLC"""		0				NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176						c.(349-351)del		v-akt murine thymoma viral oncogene homolog 1	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)																																			SO:0001651	inframe_deletion	207				activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity	g.chr14:105242073_105242075delCTC	M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.349_351delGAG	14.37:g.105242082_105242084delCTC	ENSP00000451828:p.Glu117del					AKT1_ENST00000554848.1_In_Frame_Del_p.E117del|AKT1_ENST00000544168.1_In_Frame_Del_p.E55del|AKT1_ENST00000402615.2_In_Frame_Del_p.E117del|AKT1_ENST00000349310.3_In_Frame_Del_p.E117del|AKT1_ENST00000555528.1_In_Frame_Del_p.E117del|AKT1_ENST00000407796.2_In_Frame_Del_p.E117del	p.E117del			P31749	AKT1_HUMAN	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	4	1829_1831	-		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	117					B2RAM5|B7Z5R1|Q9BWB6	In_Frame_Del	DEL	ENST00000554581.1	37	c.349_351delGAG	CCDS9994.1																																																																																				0.631	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410418.1	NM_005163		8	152						8	152	---	---	---	---
PELP1	27043	broad.mit.edu	37	17	4608074	4608075	+	5'Flank	DEL	GT	GT	-	rs367809718		TCGA-EM-A3FQ-06A-11D-A21A-08	TCGA-EM-A3FQ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ea2466-3e87-4ec2-a15c-0722473852e7	2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e	g.chr17:4608074_4608075delGT	ENST00000574876.1	-	0	0				PELP1_ENST00000301396.4_5'Flank|RP11-314A20.2_ENST00000497885.1_RNA|PELP1_ENST00000269230.7_5'Flank|PELP1_ENST00000570823.1_5'Flank|PELP1_ENST00000572293.1_5'Flank|PELP1_ENST00000436683.2_5'Flank			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1						cellular response to estrogen stimulus (GO:0071391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						AATCAGTAACGTGTGTGTGTGT	0.515																																						ENST00000497885.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr17:4608074_4608075delGT		CCDS58503.1, CCDS58503.2, CCDS62038.1	17p13.2	2012-05-02	2008-02-21			ENSG00000141456			30134	protein-coding gene	gene with protein product		609455	"""proline, glutamic acid and leucine rich protein 1"""			11481323, 12682072	Standard	NM_014389		Approved	MNAR	uc002fyi.4	Q8IZL8			17.37:g.4608084_4608085delGT	Exception_encountered							NR_103482.1						0	141	+								O15450|Q5EGN3|Q6NTE6|Q96FT1|Q9BU60	RNA	DEL	ENST00000574876.1	37		CCDS58503.1																																																																																				0.515	PELP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000439140.2	NM_014389		3	6						3	6	---	---	---	---
