#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
AIFM1	9131	broad.mit.edu	37	X	129299534	129299534	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chrX:129299534G>A	ENST00000287295.3	-	1	327	c.97C>T	c.(97-99)Cgg>Tgg	p.R33W	AIFM1_ENST00000346424.2_Missense_Mutation_p.R33W|AIFM1_ENST00000319908.3_Missense_Mutation_p.R33W|AIFM1_ENST00000535724.1_5'UTR	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	33					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|chromosome condensation (GO:0030261)|DNA catabolic process (GO:0006308)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitochondrial respiratory chain complex I assembly (GO:0032981)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic DNA fragmentation (GO:1902510)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|FAD binding (GO:0071949)|NAD(P)H oxidase activity (GO:0016174)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30					Flavin adenine dinucleotide(DB03147)	CCTGGGAGCCGGTTCCTCTGC	0.672																																						ENST00000287295.3																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						c.(97-99)Cgg>Tgg		apoptosis-inducing factor, mitochondrion-associated, 1							48.0	32.0	37.0					X																	129299534		2199	4291	6490	SO:0001583	missense	9131				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	g.chrX:129299534G>A	AF100928	CCDS14618.1, CCDS14619.1, CCDS48167.1	Xq26.1	2014-01-30	2006-11-16	2006-11-16	ENSG00000156709	ENSG00000156709			8768	protein-coding gene	gene with protein product		300169	"""programmed cell death 8 (apoptosis-inducing factor)"", ""neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)"""	PDCD8, NAMSD		9989411, 23217327	Standard	NM_004208		Approved	AIF, CMTX4	uc004evg.3	O95831	OTTHUMG00000022392	ENST00000287295.3:c.97C>T	X.37:g.129299534G>A	ENSP00000287295:p.Arg33Trp					AIFM1_ENST00000535724.1_5'UTR|AIFM1_ENST00000346424.2_Missense_Mutation_p.R33W|AIFM1_ENST00000319908.3_Missense_Mutation_p.R33W	p.R33W	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN			1	327	-			33					A4QPB4|B1ALN1|B2RB08|D3DTE9|Q1L6K4|Q1L6K6|Q2QKE4|Q5JUZ7|Q6I9X6|Q9Y3I3|Q9Y3I4	Missense_Mutation	SNP	ENST00000287295.3	37	c.97C>T	CCDS14618.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.421499	0.83559	.	.	ENSG00000156709	ENST00000346424;ENST00000319908;ENST00000287295	T;T;T	0.52057	0.68;0.98;0.98	4.67	4.67	0.58626	.	0.163432	0.53938	D	0.000048	T	0.57681	0.2070	L	0.54323	1.7	0.80722	D	1	D;D;D;D	0.76494	0.999;0.991;0.999;0.998	P;B;P;P	0.59221	0.818;0.272;0.854;0.784	T	0.61461	-0.7058	10	0.87932	D	0	-3.9738	11.8814	0.52578	0.0:0.0:1.0:0.0	.	33;33;33;33	Q1L6K6;O95831-2;O95831-3;O95831	.;.;.;AIFM1_HUMAN	W	33	ENSP00000316320:R33W;ENSP00000315122:R33W;ENSP00000287295:R33W	ENSP00000287295:R33W	R	-	1	2	AIFM1	129127215	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.010000	0.49559	2.289000	0.77006	0.600000	0.82982	CGG		0.672	AIFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058247.2			4	8	0	0	0	1	0	4	8				
PSMD11	5717	broad.mit.edu	37	17	30806375	30806375	+	Missense_Mutation	SNP	A	A	G	rs1803015		TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr17:30806375A>G	ENST00000261712.3	+	10	1282	c.1019A>G	c.(1018-1020)gAg>gGg	p.E340G	PSMD11_ENST00000457654.2_Missense_Mutation_p.E340G	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	340	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome assembly (GO:0043248)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stem cell differentiation (GO:0048863)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			CGAGTCATTGAGCCTTTTTCC	0.507																																					Ovarian(130;1038 1716 9294 11987 19279)	ENST00000261712.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						c.(1018-1020)gAg>gGg		proteasome (prosome, macropain) 26S subunit, non-ATPase, 11							124.0	120.0	122.0					17																	30806375		2203	4300	6503	SO:0001583	missense	5717				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding	g.chr17:30806375A>G	AB003102	CCDS11272.1	17q12	2008-05-22			ENSG00000108671	ENSG00000108671		"""Proteasome (prosome, macropain) subunits"""	9556	protein-coding gene	gene with protein product		604449				9426256, 9119060	Standard	NM_001270482		Approved	S9, p44.5, MGC3844, Rpn6	uc010cta.2	O00231	OTTHUMG00000132811	ENST00000261712.3:c.1019A>G	17.37:g.30806375A>G	ENSP00000261712:p.Glu340Gly					PSMD11_ENST00000457654.2_Missense_Mutation_p.E340G	p.E340G	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		10	1282	+		Breast(31;0.159)|Ovarian(249;0.182)	340			PCI.		A8K3I7|E1P663|O00495|Q53FT5	Missense_Mutation	SNP	ENST00000261712.3	37	c.1019A>G	CCDS11272.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.6|25.6	4.652195|4.652195	0.88056|0.88056	.|.	.|.	ENSG00000108671|ENSG00000108671	ENST00000261712|ENST00000457654	T|.	0.32753|.	1.44|.	5.41|5.41	5.41|5.41	0.78517|0.78517	Winged helix-turn-helix transcription repressor DNA-binding (1);Proteasome component (PCI) domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.86920|.	0.6049|.	H|H	0.96269|0.96269	3.795|3.795	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|.	0.90627|.	0.4564|.	10|.	0.87932|.	D|.	0|.	-10.6125|-10.6125	13.4494|13.4494	0.61161|0.61161	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	rs1803015|rs1803015	340|.	O00231|.	PSD11_HUMAN|.	G|W	340|77	ENSP00000261712:E340G|.	ENSP00000261712:E340G|.	E|X	+|+	2|3	0|0	PSMD11|PSMD11	27830488|27830488	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.984000|0.984000	0.73092|0.73092	9.139000|9.139000	0.94554|0.94554	2.279000|2.279000	0.76181|0.76181	0.459000|0.459000	0.35465|0.35465	GAG|TGA		0.507	PSMD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256252.2	NM_002815		76	8	0	0	0	1	0	76	8				
KRT33B	3884	broad.mit.edu	37	17	39521743	39521743	+	Silent	SNP	G	G	A			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr17:39521743G>A	ENST00000251646.3	-	4	700	c.651C>T	c.(649-651)ccC>ccT	p.P217P		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	217	Linker 12.|Rod.				aging (GO:0007568)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				GGTCCACAGCGGGAGCAGCGT	0.562																																						ENST00000251646.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(649-651)ccC>ccT		keratin 33B							70.0	67.0	68.0					17																	39521743		2191	4300	6491	SO:0001819	synonymous_variant	3884					intermediate filament	protein binding|structural molecule activity	g.chr17:39521743G>A	X82634	CCDS11389.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131738	ENSG00000131738		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6451	protein-coding gene	gene with protein product	"""hard keratin type I 3II"""	602762	"""keratin, hair, acidic, 3B"""	KRTHA3B		7565656, 16831889	Standard	NM_002279		Approved	Ha-3II	uc002hwl.4	Q14525	OTTHUMG00000133429	ENST00000251646.3:c.651C>T	17.37:g.39521743G>A							p.P217P	NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN			4	700	-		Breast(137;0.000496)	217			Linker 12.|Rod.		O76010	Silent	SNP	ENST00000251646.3	37	c.651C>T	CCDS11389.1																																																																																				0.562	KRT33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257292.1	NM_002279		5	40	0	0	0	1	0	5	40				
NDUFA13	51079	broad.mit.edu	37	19	19626917	19626917	+	5'UTR	SNP	C	C	T			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr19:19626917C>T	ENST00000507754.4	+	0	354				TSSK6_ENST00000360913.3_5'Flank|NDUFA13_ENST00000252576.5_Missense_Mutation_p.S40L|CTC-260F20.3_ENST00000555938.1_5'Flank|TSSK6_ENST00000585580.3_5'Flank|YJEFN3_ENST00000608404.1_5'Flank|NDUFA13_ENST00000512771.3_5'Flank|NDUFA13_ENST00000503283.1_5'Flank|NDUFA13_ENST00000428459.2_5'Flank			Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13						apoptotic signaling pathway (GO:0097190)|cellular metabolic process (GO:0044237)|cellular response to interferon-beta (GO:0035458)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of peptidase activity (GO:0010952)|positive regulation of protein catabolic process (GO:0045732)|protein import into mitochondrial inner membrane (GO:0045039)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						CCCGCGCGGTCGGATAGTTAC	0.622																																						ENST00000252576.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						c.(118-120)tCg>tTg		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13							38.0	38.0	38.0					19																	19626917		2203	4300	6503	SO:0001623	5_prime_UTR_variant	51079							g.chr19:19626917C>T	AF261134	CCDS12404.1, CCDS12404.2	19p13.11	2011-07-04			ENSG00000186010	ENSG00000186010		"""Mitochondrial respiratory chain complex / Complex I"""	17194	protein-coding gene	gene with protein product	"""complex I B16.6 subunit"""	609435				12837546, 10924506, 15367666	Standard	NM_015965		Approved	CGI-39, CDA016, GRIM-19, GRIM19, B16.6		Q9P0J0	OTTHUMG00000162211	ENST00000507754.4:c.-131C>T	19.37:g.19626917C>T						NDUFA13_ENST00000507754.3_5'UTR	p.S40L	NM_015965.6	NP_057049.5					1	119	+								B4DF76|K7EK58|Q6PKI0|Q9H2L3|Q9Y327	Missense_Mutation	SNP	ENST00000507754.4	37	c.119C>T	CCDS12404.2	.	.	.	.	.	.	.	.	.	.	C	13.54	2.268096	0.40095	.	.	ENSG00000186010	ENST00000252576	T	0.81078	-1.45	3.84	-7.67	0.01272	.	.	.	.	.	T	0.73753	0.3627	.	.	.	0.09310	N	0.999994	.	.	.	.	.	.	T	0.69420	-0.5150	6	0.51188	T	0.08	.	8.521	0.33275	0.1721:0.5525:0.2754:0.0	.	.	.	.	L	40	ENSP00000252576:S40L	ENSP00000252576:S40L	S	+	2	0	NDUFA13	19487917	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.378000	0.02556	-1.891000	0.01109	-1.066000	0.02275	TCG		0.622	NDUFA13-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367916.6	NM_015965		13	52	0	0	0	1	0	13	52				
DGKB	1607	broad.mit.edu	37	7	14517813	14517813	+	Missense_Mutation	SNP	T	T	C			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr7:14517813T>C	ENST00000403951.2	-	21	2230	c.1811A>G	c.(1810-1812)gAa>gGa	p.E604G	DGKB_ENST00000407950.1_Missense_Mutation_p.E596G|DGKB_ENST00000258767.5_Missense_Mutation_p.E604G|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000399322.3_Missense_Mutation_p.E604G|DGKB_ENST00000444700.2_Missense_Mutation_p.E585G|DGKB_ENST00000402815.1_Missense_Mutation_p.E603G|DGKB_ENST00000406247.3_Missense_Mutation_p.E604G			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	604					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						TGGGTGTTTTTCTCTCATGAT	0.343																																						ENST00000403951.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(1810-1812)gAa>gGa		diacylglycerol kinase, beta 90kDa	Phosphatidylserine(DB00144)						101.0	91.0	94.0					7																	14517813		1825	4103	5928	SO:0001583	missense	1607				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	g.chr7:14517813T>C	AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.1811A>G	7.37:g.14517813T>C	ENSP00000385780:p.Glu604Gly					DGKB_ENST00000402815.1_Missense_Mutation_p.E603G|DGKB_ENST00000399322.3_Missense_Mutation_p.E604G|DGKB_ENST00000444700.2_Missense_Mutation_p.E585G|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000258767.5_Missense_Mutation_p.E604G|DGKB_ENST00000407950.1_Missense_Mutation_p.E596G|DGKB_ENST00000406247.3_Missense_Mutation_p.E604G	p.E604G			Q9Y6T7	DGKB_HUMAN			21	2230	-			604					A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP	ENST00000403951.2	37	c.1811A>G	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.613283	0.87359	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	T;T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37;1.37;1.37	6.07	6.07	0.98685	Diacylglycerol kinase, accessory domain (2);	0.000000	0.85682	D	0.000000	T	0.67627	0.2913	M	0.89715	3.055	0.51012	D	0.999901	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.996;0.996;0.999	T	0.74864	-0.3519	10	0.87932	D	0	.	15.2061	0.73180	0.0:0.0:0.0:1.0	.	603;585;604;604	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	G	604;604;604;603;596;585;604	ENSP00000385780:E604G;ENSP00000382260:E604G;ENSP00000258767:E604G;ENSP00000384909:E603G;ENSP00000385031:E596G;ENSP00000388451:E585G;ENSP00000386066:E604G	ENSP00000258767:E604G	E	-	2	0	DGKB	14484338	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.532000	0.73825	2.330000	0.79161	0.477000	0.44152	GAA		0.343	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		4	5	0	0	0	1	0	4	5				
DPPA3	359787	broad.mit.edu	37	12	7867853	7867853	+	Missense_Mutation	SNP	G	G	T	rs200485546		TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr12:7867853G>T	ENST00000345088.2	+	2	274	c.157G>T	c.(157-159)Gtt>Ttt	p.V53F		NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN	developmental pluripotency associated 3	53					chromatin modification (GO:0016568)|embryonic cleavage (GO:0040016)|negative regulation of DNA demethylation (GO:1901536)|protection of DNA demethylation of female pronucleus (GO:0044726)|regulation of genetic imprinting (GO:2000653)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		TAGCGAATCTGTTTCCCCTCT	0.468																																						ENST00000345088.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8						c.(157-159)Gtt>Ttt		developmental pluripotency associated 3							76.0	78.0	77.0					12																	7867853		2203	4300	6503	SO:0001583	missense	359787					cytoplasm|nucleus		g.chr12:7867853G>T	AY317075	CCDS8582.1	12p13.31	2012-10-02			ENSG00000187569	ENSG00000187569			19199	protein-coding gene	gene with protein product		608408					Standard	NM_199286		Approved	Stella	uc001qtf.3	Q6W0C5	OTTHUMG00000168434	ENST00000345088.2:c.157G>T	12.37:g.7867853G>T	ENSP00000339250:p.Val53Phe						p.V53F	NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN		Kidney(36;0.0887)	2	274	+			53					Q0P5U3|Q6JZS6	Missense_Mutation	SNP	ENST00000345088.2	37	c.157G>T	CCDS8582.1	.	.	.	.	.	.	.	.	.	.	G	6.212	0.407305	0.11754	.	.	ENSG00000187569	ENST00000345088	T	0.46451	0.87	2.48	-1.72	0.08107	.	.	.	.	.	T	0.17534	0.0421	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.08055	0.003	T	0.17961	-1.0352	9	0.66056	D	0.02	0.3498	0.4508	0.00501	0.1972:0.3416:0.1983:0.2628	.	53	Q6W0C5	DPPA3_HUMAN	F	53	ENSP00000339250:V53F	ENSP00000339250:V53F	V	+	1	0	DPPA3	7759120	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.349000	0.07731	-0.452000	0.07087	-1.277000	0.01392	GTT		0.468	DPPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399718.1	NM_199286		28	98	1	0	4.87955e-14	1	5.29308e-14	28	98				
KIF26B	55083	broad.mit.edu	37	1	245530500	245530500	+	Missense_Mutation	SNP	C	C	T	rs200909835		TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr1:245530500C>T	ENST00000407071.2	+	3	1270	c.830C>T	c.(829-831)gCg>gTg	p.A277V	KIF26B_ENST00000479506.1_3'UTR	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	277					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AGCAATGGGGCGGAAAAGAAG	0.617																																						ENST00000407071.2																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(829-831)gCg>gTg		kinesin family member 26B		C	VAL/ALA	0,4022		0,0,2011	31.0	42.0	38.0		830	3.9	0.6	1		38	1,8335		0,1,4167	yes	missense	KIF26B	NM_018012.3	64	0,1,6178	TT,TC,CC		0.012,0.0,0.0081	benign	277/2109	245530500	1,12357	2011	4168	6179	SO:0001583	missense	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245530500C>T	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.830C>T	1.37:g.245530500C>T	ENSP00000385545:p.Ala277Val					KIF26B_ENST00000479506.1_3'UTR	p.A277V	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		3	1270	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		277					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	c.830C>T	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.364296	0.24684	0.0	1.2E-4	ENSG00000162849	ENST00000407071	T	0.78126	-1.15	5.75	3.9	0.45041	.	0.134018	0.52532	D	0.000061	T	0.50463	0.1617	N	0.11560	0.145	0.54753	D	0.999987	B;B	0.13594	0.008;0.008	B;B	0.10450	0.004;0.005	T	0.38866	-0.9641	10	0.06099	T	0.92	.	4.1457	0.10215	0.1588:0.5584:0.0:0.2827	.	277;277	B4DF75;Q2KJY2	.;KI26B_HUMAN	V	277	ENSP00000385545:A277V	ENSP00000385545:A277V	A	+	2	0	KIF26B	243597123	0.916000	0.31088	0.567000	0.28434	0.871000	0.50021	1.615000	0.36922	0.789000	0.33779	0.655000	0.94253	GCG		0.617	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		7	13	0	0	0	1	0	7	13				
CLIP2	7461	broad.mit.edu	37	7	73811495	73811495	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr7:73811495G>C	ENST00000395060.1	+	13	2812	c.2812G>C	c.(2812-2814)Gag>Cag	p.E938Q	CLIP2_ENST00000361545.5_Missense_Mutation_p.E903Q|CLIP2_ENST00000223398.6_Missense_Mutation_p.E938Q			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	938						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						ACACAAGGCTGAGTGGCGGAT	0.637																																						ENST00000223398.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						c.(2812-2814)Gag>Cag		CAP-GLY domain containing linker protein 2							100.0	91.0	94.0					7																	73811495		2203	4300	6503	SO:0001583	missense	7461					microtubule associated complex		g.chr7:73811495G>C	AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"""cytoplasmic linker 2"", ""Williams-Beuren syndrome chromosome region 3"""	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.2812G>C	7.37:g.73811495G>C	ENSP00000378500:p.Glu938Gln					CLIP2_ENST00000395060.1_Missense_Mutation_p.E938Q|CLIP2_ENST00000361545.5_Missense_Mutation_p.E903Q	p.E938Q	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN			14	3139	+			938					O14527|O43611	Missense_Mutation	SNP	ENST00000395060.1	37	c.2812G>C	CCDS5569.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.515461	0.85389	.	.	ENSG00000106665	ENST00000539676;ENST00000223398;ENST00000361545;ENST00000395060	T;T;T	0.70749	-0.47;-0.51;-0.47	4.54	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.76371	0.3978	L	0.29908	0.895	0.54753	D	0.999981	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.79055	-0.1960	10	0.56958	D	0.05	-30.5801	15.8489	0.78912	0.0:0.0:1.0:0.0	.	903;938	Q9UDT6-2;Q9UDT6	.;CLIP2_HUMAN	Q	938;938;903;938	ENSP00000223398:E938Q;ENSP00000355151:E903Q;ENSP00000378500:E938Q	ENSP00000223398:E938Q	E	+	1	0	CLIP2	73449431	1.000000	0.71417	0.994000	0.49952	0.871000	0.50021	8.970000	0.93415	2.081000	0.62600	0.561000	0.74099	GAG		0.637	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388		13	101	0	0	0	1	0	13	101				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gTt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		9	7	1	0	3.86212e-05	1	3.9867e-05	9	7				
CEP89	84902	broad.mit.edu	37	19	33414440	33414440	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr19:33414440C>T	ENST00000305768.5	-	12	1261	c.1173G>A	c.(1171-1173)atG>atA	p.M391I		NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	391					cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						TAAACATTCTCATTTCCTCCT	0.388																																						ENST00000305768.4																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						c.(1171-1173)atG>atA		centrosomal protein 89kDa							195.0	178.0	183.0					19																	33414440		2202	4300	6502	SO:0001583	missense	84902					centrosome|spindle pole		g.chr19:33414440C>T	AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289			25907	protein-coding gene	gene with protein product		615470	"""coiled-coil domain containing 123"""	CCDC123		16395595	Standard	NM_032816		Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.1173G>A	19.37:g.33414440C>T	ENSP00000306105:p.Met391Ile						p.M391I	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN			12	1261	-			391					B9EGA6|Q8N5J8	Missense_Mutation	SNP	ENST00000305768.5	37	c.1173G>A	CCDS32987.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.088368	0.36855	.	.	ENSG00000121289	ENST00000305768	T	0.43294	0.95	5.12	5.12	0.69794	.	0.327147	0.38663	N	0.001602	T	0.35038	0.0918	L	0.39633	1.23	0.80722	D	1	B;B	0.19073	0.019;0.033	B;B	0.17979	0.02;0.02	T	0.10359	-1.0633	10	0.20046	T	0.44	-10.6997	15.5662	0.76294	0.0:1.0:0.0:0.0	.	144;391	Q96ST8-2;Q96ST8	.;CEP89_HUMAN	I	391	ENSP00000306105:M391I	ENSP00000306105:M391I	M	-	3	0	CEP89	38106280	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.928000	0.56506	2.408000	0.81797	0.650000	0.86243	ATG		0.388	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451300.2	NM_032816		42	282	0	0	0	1	0	42	282				
LMBRD2	92255	broad.mit.edu	37	5	36118007	36118007	+	Nonsense_Mutation	SNP	C	C	A			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr5:36118007C>A	ENST00000296603.4	-	10	1594	c.1132G>T	c.(1132-1134)Gaa>Taa	p.E378*		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	378						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAAAGACATTCCCAGTACCAT	0.358																																						ENST00000296603.4																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1132-1134)Gaa>Taa		LMBR1 domain containing 2							94.0	85.0	88.0					5																	36118007		2203	4300	6503	SO:0001587	stop_gained	92255					integral to membrane		g.chr5:36118007C>A		CCDS34145.1	5p13.2	2008-02-05			ENSG00000164187	ENSG00000164187			25287	protein-coding gene	gene with protein product							Standard	NM_001007527		Approved	DKFZp434H2226	uc003jkb.1	Q68DH5	OTTHUMG00000162150	ENST00000296603.4:c.1132G>T	5.37:g.36118007C>A	ENSP00000296603:p.Glu378*						p.E378*	NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		10	1594	-	all_lung(31;0.000146)		378					B3KRB6|Q9NTC7	Nonsense_Mutation	SNP	ENST00000296603.4	37	c.1132G>T	CCDS34145.1	.	.	.	.	.	.	.	.	.	.	C	43	9.840219	0.99276	.	.	ENSG00000164187	ENST00000296603;ENST00000546130	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-17.1482	19.2418	0.93887	0.0:1.0:0.0:0.0	.	.	.	.	X	378;272	.	ENSP00000296603:E378X	E	-	1	0	LMBRD2	36153764	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.541000	0.85698	0.650000	0.86243	GAA		0.358	LMBRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367552.1	NM_001007527		22	7	1	0	6.33239e-15	1	6.98746e-15	22	7				
TCF15	6939	broad.mit.edu	37	20	590483	590483	+	Silent	SNP	C	C	T			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr20:590483C>T	ENST00000246080.3	-	1	559	c.399G>A	c.(397-399)tcG>tcA	p.S133S		NM_004609.3	NP_004600.2	Q12870	TCF15_HUMAN	transcription factor 15 (basic helix-loop-helix)	133					death (GO:0016265)|ear development (GO:0043583)|eating behavior (GO:0042755)|establishment of epithelial cell apical/basal polarity (GO:0045198)|mesenchymal to epithelial transition (GO:0060231)|mesoderm development (GO:0007498)|muscle organ morphogenesis (GO:0048644)|neuromuscular process controlling posture (GO:0050884)|paraxial mesoderm development (GO:0048339)|post-anal tail morphogenesis (GO:0036342)|regulation of gene expression involved in extracellular matrix organization (GO:1901311)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|respiratory system process (GO:0003016)|skeletal system morphogenesis (GO:0048705)|skin development (GO:0043588)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|lung(2)|prostate(1)	4		Breast(17;0.231)				CGTCGTCGGCCGAGTCGCCCA	0.741																																						ENST00000246080.3																			0				autonomic_ganglia(1)|lung(2)|prostate(1)	4						c.(397-399)tcG>tcA		transcription factor 15 (basic helix-loop-helix)							16.0	15.0	15.0					20																	590483		2192	4282	6474	SO:0001819	synonymous_variant	6939				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:590483C>T		CCDS33432.1	20p13	2013-05-21			ENSG00000125878	ENSG00000125878		"""Basic helix-loop-helix proteins"""	11627	protein-coding gene	gene with protein product		601010				8825648, 8041747	Standard	NM_004609		Approved	EC2, PARAXIS, bHLHa40	uc002wdz.3	Q12870	OTTHUMG00000031640	ENST00000246080.3:c.399G>A	20.37:g.590483C>T							p.S133S	NM_004609.3	NP_004600.2	Q12870	TCF15_HUMAN			1	559	-		Breast(17;0.231)	133					Q9NQQ1	Silent	SNP	ENST00000246080.3	37	c.399G>A	CCDS33432.1																																																																																				0.741	TCF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077475.2	NM_004609		7	6	0	0	0	1	0	7	6				
TGFBR3	7049	broad.mit.edu	37	1	92178081	92178081	+	Nonsense_Mutation	SNP	C	C	A			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr1:92178081C>A	ENST00000525962.1	-	12	1946	c.1885G>T	c.(1885-1887)Gaa>Taa	p.E629*	TGFBR3_ENST00000370399.2_Nonsense_Mutation_p.E628*|TGFBR3_ENST00000212355.4_Nonsense_Mutation_p.E629*			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	629	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		AGTTCTTGTTCAGCCTTAGTA	0.383																																						ENST00000212355.4																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(1885-1887)Gaa>Taa		transforming growth factor, beta receptor III							92.0	89.0	90.0					1																	92178081		2203	4300	6503	SO:0001587	stop_gained	7049				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	g.chr1:92178081C>A	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"""Proteoglycans / Cell surface : Other"""	11774	protein-coding gene	gene with protein product	"""betaglycan proteoglycan"""	600742	"""transforming growth factor, beta receptor III (betaglycan, 300kDa)"""			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.1885G>T	1.37:g.92178081C>A	ENSP00000436127:p.Glu629*					TGFBR3_ENST00000525962.1_Nonsense_Mutation_p.E629*|TGFBR3_ENST00000370399.2_Nonsense_Mutation_p.E628*	p.E629*	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0825)	13	2350	-		all_lung(203;0.00719)|Lung NSC(277;0.0268)	629			ZP.		A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Nonsense_Mutation	SNP	ENST00000525962.1	37	c.1885G>T	CCDS30770.1	.	.	.	.	.	.	.	.	.	.	C	41	8.532768	0.98852	.	.	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892	.	.	.	6.16	6.16	0.99307	.	0.201156	0.51477	D	0.000097	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-22.4457	20.8598	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	X	629;628;629;628	.	.	E	-	1	0	TGFBR3	91950669	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	3.454000	0.52986	2.937000	0.99478	0.650000	0.86243	GAA		0.383	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243		11	34	1	0	0.00010058	1	0.000102176	11	34				
CYP26A1	1592	broad.mit.edu	37	10	94836425	94836425	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr10:94836425G>A	ENST00000224356.4	+	6	1169	c.1124G>A	c.(1123-1125)cGg>cAg	p.R375Q	CYP26A1_ENST00000394139.1_Missense_Mutation_p.R306Q|CYP26A1_ENST00000371531.1_Missense_Mutation_p.R306Q	NM_000783.3	NP_000774.2	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	375					anterior/posterior pattern specification (GO:0009952)|cellular response to retinoic acid (GO:0071300)|central nervous system development (GO:0007417)|metabolic process (GO:0008152)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|neural crest cell development (GO:0014032)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)			Acitretin(DB00459)|Ketoconazole(DB01026)|Vitamin A(DB00162)	GGAGGGTTTCGGGTTGCTCTG	0.403																																						ENST00000371531.1																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						c.(916-918)cGg>cAg		cytochrome P450, family 26, subfamily A, polypeptide 1							85.0	87.0	86.0					10																	94836425		2203	4300	6503	SO:0001583	missense	0				negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	g.chr10:94836425G>A	AF005418	CCDS7426.1, CCDS7427.1	10q23-q24	2003-10-06	2003-01-14		ENSG00000095596	ENSG00000095596		"""Cytochrome P450s"""	2603	protein-coding gene	gene with protein product		602239	"""cytochrome P450, subfamily XXVIA, polypeptide 1"""			9228017, 9521883	Standard	NM_000783		Approved	P450RAI, CP26, CYP26, P450RAI1	uc001kil.2	O43174	OTTHUMG00000018765	ENST00000224356.4:c.1124G>A	10.37:g.94836425G>A	ENSP00000224356:p.Arg375Gln					CYP26A1_ENST00000224356.4_Missense_Mutation_p.R375Q|CYP26A1_ENST00000394139.1_Missense_Mutation_p.R306Q	p.R306Q	NM_057157.2	NP_476498.1	O43174	CP26A_HUMAN			6	1295	+		Colorectal(252;0.122)	375					B3KNI4|Q5VXH9|Q5VXI0	Missense_Mutation	SNP	ENST00000224356.4	37	c.917G>A	CCDS7426.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.556942	0.86231	.	.	ENSG00000095596	ENST00000371531;ENST00000224356;ENST00000394139	T;T;T	0.80824	-1.42;-1.42;-1.42	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	D	0.92704	0.7681	H	0.94183	3.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94646	0.7835	10	0.87932	D	0	-18.2743	18.1981	0.89829	0.0:0.0:1.0:0.0	.	306;375	B3KNI4;O43174	.;CP26A_HUMAN	Q	306;375;306	ENSP00000360586:R306Q;ENSP00000224356:R375Q;ENSP00000377695:R306Q	ENSP00000224356:R375Q	R	+	2	0	CYP26A1	94826415	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.069000	0.93967	2.528000	0.85240	0.555000	0.69702	CGG		0.403	CYP26A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049408.3			15	40	0	0	0	1	0	15	40				
PIBF1	10464	broad.mit.edu	37	13	73357694	73357694	+	Silent	SNP	T	T	C			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr13:73357694T>C	ENST00000326291.6	+	2	425	c.87T>C	c.(85-87)gtT>gtC	p.V29V	DIS3_ENST00000475871.1_5'Flank|DIS3_ENST00000377767.4_5'Flank|DIS3_ENST00000377780.4_5'Flank|DIS3_ENST00000545453.1_5'Flank	NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	29						centrosome (GO:0005813)				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		AAACAACAGTTCCTACGGATG	0.348																																						ENST00000326291.6																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24						c.(85-87)gtT>gtC		progesterone immunomodulatory binding factor 1							79.0	83.0	82.0					13																	73357694		2203	4300	6503	SO:0001819	synonymous_variant	10464					centrosome		g.chr13:73357694T>C	AF330046	CCDS31991.1	13q21.33	2014-02-20	2007-10-17	2007-10-17	ENSG00000083535	ENSG00000083535			23352	protein-coding gene	gene with protein product	"""progesterone-induced blocking factor 1"""	607532	"""chromosome 13 open reading frame 24"""	C13orf24		11935316	Standard	NM_006346		Approved	CEP90	uc001vjc.3	Q8WXW3	OTTHUMG00000017071	ENST00000326291.6:c.87T>C	13.37:g.73357694T>C							p.V29V	NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN		GBM - Glioblastoma multiforme(99;0.000664)	2	425	+		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)	29					O95664|Q6U9V2|Q6UG50|Q86V07|Q96SF4	Silent	SNP	ENST00000326291.6	37	c.87T>C	CCDS31991.1																																																																																				0.348	PIBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045255.1	NM_006346		16	74	0	0	0	1	0	16	74				
CDC42BPB	9578	broad.mit.edu	37	14	103418917	103418917	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr14:103418917G>C	ENST00000361246.2	-	24	3378	c.3090C>G	c.(3088-3090)atC>atG	p.I1030M		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		AGAAGGACTTGATGCTGAACT	0.547																																						ENST00000361246.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49						c.(3088-3090)atC>atG		CDC42 binding protein kinase beta (DMPK-like)							132.0	113.0	119.0					14																	103418917		2203	4300	6503	SO:0001583	missense	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103418917G>C	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.3090C>G	14.37:g.103418917G>C	ENSP00000355237:p.Ile1030Met						p.I1030M	NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	24	3378	-		Melanoma(154;0.155)	1030						Missense_Mutation	SNP	ENST00000361246.2	37	c.3090C>G	CCDS9978.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.798327	0.70567	.	.	ENSG00000198752	ENST00000361246;ENST00000541396	D	0.92805	-3.11	5.63	5.63	0.86233	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);Diacylglycerol/phorbol-ester binding (1);	0.046857	0.85682	D	0.000000	D	0.92280	0.7551	N	0.25789	0.76	0.80722	D	1	P;B	0.36633	0.562;0.363	P;P	0.53988	0.739;0.653	D	0.92312	0.5858	10	0.72032	D	0.01	.	14.8408	0.70223	0.0:0.0:0.8562:0.1438	.	1030;1030	A9JR72;Q9Y5S2	.;MRCKB_HUMAN	M	1030;141	ENSP00000355237:I1030M	ENSP00000355237:I1030M	I	-	3	3	CDC42BPB	102488670	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.695000	0.54749	2.815000	0.96918	0.561000	0.74099	ATC		0.547	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		7	16	0	0	0	1	0	7	16				
KAL1	3730	broad.mit.edu	37	X	8553429	8553429	+	Silent	SNP	G	G	A	rs188939998		TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chrX:8553429G>A	ENST00000262648.3	-	6	884	c.735C>T	c.(733-735)gaC>gaT	p.D245D		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	245	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.D245D(1)		breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						GAACTCGCTCGTCTGTGGTCT	0.488													G|||	2	0.000529801	0.0	0.0014	3775	,	,		14329	0.001		0.0	False		,,,				2504	0.0					ENST00000262648.3																			1	Substitution - coding silent(1)	p.D245D(1)	breast(1)	breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						c.(733-735)gaC>gaT		Kallmann syndrome 1 sequence							186.0	130.0	149.0					X																	8553429		2203	4300	6503	SO:0001819	synonymous_variant	3730				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity	g.chrX:8553429G>A		CCDS14130.1	Xp22.32	2013-02-11			ENSG00000011201	ENSG00000011201		"""WAP four-disulfide core domain containing"", ""Fibronectin type III domain containing"""	6211	protein-coding gene	gene with protein product	"""anosmin-1"", ""WAP four-disulfide core domain 19"""	300836		KAL, ADMLX		11463336	Standard	NM_000216		Approved	KALIG-1, WFDC19	uc004csf.3	P23352	OTTHUMG00000021107	ENST00000262648.3:c.735C>T	X.37:g.8553429G>A							p.D245D	NM_000216.2	NP_000207.2	P23352	KALM_HUMAN			6	884	-			245			Fibronectin type-III 1.		B2RPF8	Silent	SNP	ENST00000262648.3	37	c.735C>T	CCDS14130.1																																																																																				0.488	KAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055692.1	NM_000216		36	39	0	0	0	1	0	36	39				
TMEM63A	9725	broad.mit.edu	37	1	226065190	226065190	+	Missense_Mutation	SNP	A	A	C			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr1:226065190A>C	ENST00000366835.3	-	3	361	c.91T>G	c.(91-93)Tat>Gat	p.Y31D		NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	31					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					TTGTAGCAATAGGAGTCGTTG	0.612											OREG0014291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000366835.3																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24						c.(91-93)Tat>Gat		transmembrane protein 63A							100.0	83.0	89.0					1																	226065190		2203	4300	6503	SO:0001583	missense	9725					integral to membrane|lysosomal membrane	nucleotide binding	g.chr1:226065190A>C		CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"""KIAA0792"""	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.91T>G	1.37:g.226065190A>C	ENSP00000355800:p.Tyr31Asp		OREG0014291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2309		p.Y31D	NM_014698.2	NP_055513.2	O94886	TM63A_HUMAN			3	361	-	Breast(184;0.197)		31					Q53GI7|Q5TE96|Q8N2U2	Missense_Mutation	SNP	ENST00000366835.3	37	c.91T>G	CCDS31042.1	.	.	.	.	.	.	.	.	.	.	A	15.67	2.901077	0.52227	.	.	ENSG00000196187	ENST00000366835;ENST00000436966	T;T	0.27256	1.68;1.68	5.55	5.55	0.83447	.	0.157942	0.56097	D	0.000035	T	0.25754	0.0627	L	0.52126	1.63	0.80722	D	1	B;B	0.29085	0.232;0.232	B;B	0.30029	0.11;0.11	T	0.03453	-1.1035	10	0.33141	T	0.24	-35.6597	13.2193	0.59877	1.0:0.0:0.0:0.0	.	31;31	B3KMR6;O94886	.;TM63A_HUMAN	D	31	ENSP00000355800:Y31D;ENSP00000409002:Y31D	ENSP00000355800:Y31D	Y	-	1	0	TMEM63A	224131813	1.000000	0.71417	1.000000	0.80357	0.709000	0.40893	5.620000	0.67736	2.107000	0.64212	0.459000	0.35465	TAT		0.612	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091154.2	NM_014698		17	22	0	0	0	1	0	17	22				
ZNF300P1	134466	broad.mit.edu	37	5	150310592	150310592	+	RNA	SNP	C	C	T			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr5:150310592C>T	ENST00000520773.1	-	0	2729									zinc finger protein 300 pseudogene 1 (functional)																		GTTGTTCTCCCGTGTGAATTC	0.438																																						ENST00000520773.1																			0																																																			0							g.chr5:150310592C>T	AK096536		5q33.1	2014-09-11	2014-01-16		ENSG00000197083	ENSG00000197083		"""-"""	27032	pseudogene	pseudogene			"""zinc finger protein 300 pseudogene 1"""			24393131	Standard	NR_026867		Approved		uc003lsz.1		OTTHUMG00000154830		5.37:g.150310592C>T														0	2729	-									RNA	SNP	ENST00000520773.1	37																																																																																						0.438	ZNF300P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000374771.1	NR_026867		13	4	0	0	0	1	0	13	4				
MPO	4353	broad.mit.edu	37	17	56355451	56355451	+	Missense_Mutation	SNP	C	C	A			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr17:56355451C>A	ENST00000225275.3	-	7	1117	c.941G>T	c.(940-942)cGc>cTc	p.R314L	MPO_ENST00000578493.1_5'UTR|MPO_ENST00000340482.3_Missense_Mutation_p.R346L	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	314					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	CGGGCAGGAGCGGAAGAACGG	0.622																																						ENST00000340482.3																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46						c.(1036-1038)cGc>cTc		myeloperoxidase	Cefdinir(DB00535)						96.0	88.0	91.0					17																	56355451		2203	4300	6503	SO:0001583	missense	4353				anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity	g.chr17:56355451C>A		CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.941G>T	17.37:g.56355451C>A	ENSP00000225275:p.Arg314Leu					MPO_ENST00000225275.3_Missense_Mutation_p.R314L|MPO_ENST00000578493.1_5'UTR	p.R346L			P05164	PERM_HUMAN			6	1213	-			314					A1L4B8|Q14862|Q4PJH5|Q9UCL7	Missense_Mutation	SNP	ENST00000225275.3	37	c.1037G>T	CCDS11604.1	.	.	.	.	.	.	.	.	.	.	C	35	5.459559	0.96240	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	D;D	0.84660	-1.88;-1.88	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.95726	0.8610	H	0.98559	4.265	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.97518	1.0071	10	0.87932	D	0	-24.6902	18.0012	0.89198	0.0:1.0:0.0:0.0	.	314	P05164	PERM_HUMAN	L	346;314	ENSP00000344419:R346L;ENSP00000225275:R314L	ENSP00000225275:R314L	R	-	2	0	MPO	53710450	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.046000	0.71029	2.518000	0.84900	0.561000	0.74099	CGC		0.622	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1			75	4	1	0	3.83446e-41	1	4.38224e-41	75	4				
VWF	7450	broad.mit.edu	37	12	6105256	6105256	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr12:6105256G>A	ENST00000261405.5	-	35	6229	c.5975C>T	c.(5974-5976)gCc>gTc	p.A1992V		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1992	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AGGGCTGCAGGCACCATTATG	0.522																																						ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(5974-5976)gCc>gTc		von Willebrand factor	Antihemophilic Factor(DB00025)						50.0	45.0	46.0					12																	6105256		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6105256G>A		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.5975C>T	12.37:g.6105256G>A	ENSP00000261405:p.Ala1992Val						p.A1992V	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			35	6229	-			1992			VWFD 4.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.5975C>T	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	G	5.644	0.303559	0.10678	.	.	ENSG00000110799	ENST00000261405	T	0.59502	0.26	5.55	3.4	0.38934	von Willebrand factor, type D domain (3);	0.380247	0.19260	N	0.118708	T	0.41719	0.1171	L	0.38531	1.155	0.58432	D	0.999997	B	0.15141	0.012	B	0.15052	0.012	T	0.18147	-1.0346	10	0.17832	T	0.49	.	7.3476	0.26672	0.1638:0.0:0.6962:0.1399	.	1992	P04275	VWF_HUMAN	V	1992	ENSP00000261405:A1992V	ENSP00000261405:A1992V	A	-	2	0	VWF	5975517	0.969000	0.33509	0.937000	0.37676	0.170000	0.22686	1.466000	0.35310	1.346000	0.45694	0.655000	0.94253	GCC		0.522	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		4	63	0	0	0	1	0	4	63				
CCDC130	81576	broad.mit.edu	37	19	13873409	13873409	+	Missense_Mutation	SNP	G	G	A	rs574415490		TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr19:13873409G>A	ENST00000586600.1	+	11	1221	c.718G>A	c.(718-720)Gag>Aag	p.E240K	MRI1_ENST00000040663.6_5'Flank|MRI1_ENST00000319545.8_5'Flank|CCDC130_ENST00000221554.8_Missense_Mutation_p.E240K|CCDC130_ENST00000587019.1_3'UTR			P13994	CC130_HUMAN	coiled-coil domain containing 130	240					response to virus (GO:0009615)					endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			TCTAGCCTACGAGGACAAGCA	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		15824	0.0		0.0	False		,,,				2504	0.001					ENST00000586600.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10						c.(718-720)Gag>Aag		coiled-coil domain containing 130							33.0	35.0	34.0					19																	13873409		2202	4299	6501	SO:0001583	missense	81576				response to virus		protein binding	g.chr19:13873409G>A	AF250306	CCDS12296.1	19p13.13	2008-02-05				ENSG00000104957			28118	protein-coding gene	gene with protein product						3203696	Standard	NM_030818		Approved	MGC10471	uc002mxc.1	P13994		ENST00000586600.1:c.718G>A	19.37:g.13873409G>A	ENSP00000465776:p.Glu240Lys					CCDC130_ENST00000587019.1_3'UTR|CCDC130_ENST00000221554.8_Missense_Mutation_p.E240K	p.E240K			P13994	CC130_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)		11	1221	+			240					Q9BQ72	Missense_Mutation	SNP	ENST00000586600.1	37	c.718G>A	CCDS12296.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.158073	0.57368	.	.	ENSG00000104957	ENST00000221554	T	0.33654	1.4	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.40694	0.1127	L	0.58669	1.825	0.80722	D	1	P;P	0.51933	0.949;0.91	B;P	0.45856	0.301;0.495	T	0.17501	-1.0367	10	0.26408	T	0.33	-21.7476	16.3434	0.83110	0.0:0.0:1.0:0.0	.	240;240	B3KUZ1;P13994	.;CC130_HUMAN	K	240	ENSP00000221554:E240K	ENSP00000221554:E240K	E	+	1	0	CCDC130	13734409	1.000000	0.71417	0.981000	0.43875	0.241000	0.25554	8.247000	0.89830	2.470000	0.83445	0.561000	0.74099	GAG		0.632	CCDC130-001	KNOWN	alternative_5_UTR|upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453216.2	NM_030818		14	15	0	0	0	1	0	14	15				
BMS1P20	96610	broad.mit.edu	37	22	22661272	22661272	+	RNA	SNP	C	C	T			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr22:22661272C>T	ENST00000426066.1	+	0	360					NR_027293.1				BMS1 pseudogene 20																		CTGGGATGTACGTCTGCGTTG	0.488																																						ENST00000426066.1																			0																																																			0							g.chr22:22661272C>T			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661272C>T								NR_027293.1						0	360	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.488	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			5	31	0	0	0	1	0	5	31				
MLH1	4292	broad.mit.edu	37	3	37067374	37067374	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr3:37067374G>A	ENST00000231790.2	+	12	1501	c.1285G>A	c.(1285-1287)Gag>Aag	p.E429K	MLH1_ENST00000539477.1_Missense_Mutation_p.E188K|MLH1_ENST00000435176.1_Missense_Mutation_p.E331K|MLH1_ENST00000536378.1_Missense_Mutation_p.E188K|MLH1_ENST00000458205.2_Missense_Mutation_p.E188K|MLH1_ENST00000455445.2_Missense_Mutation_p.E188K	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	429	Interaction with EXO1.				ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						GCAGCAAGATGAGGAGATGCT	0.517		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000231790.2		1	yes	Rec	yes	"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	3	3p21.3	4292	"""D, Mis, N, F, S"""	E.coli MutL homolog gene			"""E, O"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		1	Whole gene deletion(1)	p.0?(1)	ovary(1)	NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						c.(1285-1287)Gag>Aag	Mismatch excision repair (MMR)	mutL homolog 1							87.0	91.0	90.0					3																	37067374		2203	4300	6503	SO:0001583	missense	4292	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	g.chr3:37067374G>A	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"""mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)"", ""mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"""	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.1285G>A	3.37:g.37067374G>A	ENSP00000231790:p.Glu429Lys					MLH1_ENST00000435176.1_Missense_Mutation_p.E331K|MLH1_ENST00000536378.1_Missense_Mutation_p.E188K|MLH1_ENST00000455445.2_Missense_Mutation_p.E188K|MLH1_ENST00000539477.1_Missense_Mutation_p.E188K|MLH1_ENST00000458205.2_Missense_Mutation_p.E188K	p.E429K	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN			12	1501	+			429			Interaction with EXO1.		B4DI13|B4DQ11|E9PCU2	Missense_Mutation	SNP	ENST00000231790.2	37	c.1285G>A	CCDS2663.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.216|9.216	1.032273|1.032273	0.19590|0.19590	.|.	.|.	ENSG00000076242|ENSG00000076242	ENST00000231790;ENST00000383761;ENST00000458205;ENST00000539477;ENST00000455445;ENST00000435176;ENST00000536378|ENST00000456676	D;D;D;D;D;D|.	0.89196|.	-2.48;-2.48;-2.48;-2.48;-2.48;-2.48|.	4.98|4.98	3.16|3.16	0.36331|0.36331	.|.	0.230384|.	0.41823|.	N|.	0.000809|.	T|T	0.23688|0.23688	0.0573|0.0573	N|N	0.22421|0.22421	0.69|0.69	0.27313|0.27313	N|N	0.957243|0.957243	B;B;B;B;B;B|.	0.22983|.	0.004;0.045;0.078;0.045;0.004;0.004|.	B;B;B;B;B;B|.	0.18263|.	0.003;0.021;0.021;0.021;0.003;0.013|.	T|T	0.18808|0.18808	-1.0325|-1.0325	10|5	0.09843|.	T|.	0.71|.	-13.6046|-13.6046	5.3974|5.3974	0.16276|0.16276	0.0732:0.262:0.5298:0.1349|0.0732:0.262:0.5298:0.1349	.|.	331;331;188;188;429;429|.	E9PCU2;B4DQ11;B7Z821;B4DI13;Q53GX1;P40692|.	.;.;.;.;.;MLH1_HUMAN|.	K|I	429;293;188;188;188;331;188|420	ENSP00000231790:E429K;ENSP00000402667:E188K;ENSP00000443665:E188K;ENSP00000398272:E188K;ENSP00000402564:E331K;ENSP00000444286:E188K|.	ENSP00000231790:E429K|.	E|M	+|+	1|3	0|0	MLH1|MLH1	37042378|37042378	0.991000|0.991000	0.36638|0.36638	0.969000|0.969000	0.41365|0.41365	0.954000|0.954000	0.61252|0.61252	0.841000|0.841000	0.27613|0.27613	0.777000|0.777000	0.33496|0.33496	0.655000|0.655000	0.94253|0.94253	GAG|ATG		0.517	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2	NM_000249		6	150	0	0	0	1	0	6	150				
IWS1	55677	broad.mit.edu	37	2	128262839	128262839	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr2:128262839C>T	ENST00000295321.4	-	3	899	c.640G>A	c.(640-642)Gag>Aag	p.E214K	IWS1_ENST00000455721.2_Missense_Mutation_p.E221K|IWS1_ENST00000486662.1_5'UTR|AC010976.2_ENST00000599001.1_RNA	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	214	Glu-rich.				mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		GGAAGCTCCTCACTTTCAGAA	0.507																																						ENST00000295321.4																			0				cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(640-642)Gag>Aag		IWS1 homolog (S. cerevisiae)							136.0	142.0	140.0					2																	128262839		2203	4300	6503	SO:0001583	missense	55677				transcription, DNA-dependent	nucleus	DNA binding	g.chr2:128262839C>T	AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.640G>A	2.37:g.128262839C>T	ENSP00000295321:p.Glu214Lys					IWS1_ENST00000455721.2_Missense_Mutation_p.E221K|IWS1_ENST00000486662.1_5'UTR|AC010976.2_ENST00000599001.1_RNA	p.E214K	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0735)	3	899	-	Colorectal(110;0.1)		214			Glu-rich.		Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Missense_Mutation	SNP	ENST00000295321.4	37	c.640G>A	CCDS2146.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.540567	0.45280	.	.	ENSG00000163166	ENST00000295321;ENST00000433551;ENST00000455721;ENST00000409725	T;T	0.44881	1.08;0.91	5.7	5.7	0.88788	.	0.055261	0.64402	D	0.000002	T	0.44008	0.1273	M	0.62723	1.935	0.43652	D	0.996063	P	0.42871	0.792	B	0.37731	0.257	T	0.38950	-0.9637	10	0.36615	T	0.2	-19.6295	19.4171	0.94706	0.0:1.0:0.0:0.0	.	214	Q96ST2	IWS1_HUMAN	K	214;167;221;219	ENSP00000295321:E214K;ENSP00000399245:E221K	ENSP00000295321:E214K	E	-	1	0	IWS1	127979309	1.000000	0.71417	1.000000	0.80357	0.306000	0.27790	6.223000	0.72257	2.676000	0.91093	0.591000	0.81541	GAG		0.507	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254384.2	NM_017969		50	110	0	0	0	1	0	50	110				
ATR	545	broad.mit.edu	37	3	142168367	142168367	+	Silent	SNP	C	C	T	rs371176601		TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr3:142168367C>T	ENST00000350721.4	-	47	7960	c.7839G>A	c.(7837-7839)ccG>ccA	p.P2613P	XRN1_ENST00000264951.4_5'Flank|ATR_ENST00000383101.3_Silent_p.P2549P|XRN1_ENST00000544157.1_5'Flank|XRN1_ENST00000463916.1_5'Flank|XRN1_ENST00000465074.1_5'Flank|XRN1_ENST00000392981.2_5'Flank	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2613	FATC. {ECO:0000255|PROSITE- ProRule:PRU00534, ECO:0000255|PROSITE- ProRule:PRU00535}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CAATAGATAACGGCAGTCCTG	0.398								Other conserved DNA damage response genes																														ENST00000350721.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(7837-7839)ccG>ccA	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related		C		1,4405	2.1+/-5.4	0,1,2202	125.0	113.0	117.0		7839	-10.9	0.5	3		117	0,8600		0,0,4300	no	coding-synonymous	ATR	NM_001184.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		2613/2645	142168367	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142168367C>T	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.7839G>A	3.37:g.142168367C>T						ATR_ENST00000383101.3_Silent_p.P2549P	p.P2613P	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN			47	7960	-			2613			FATC.		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Silent	SNP	ENST00000350721.4	37	c.7839G>A	CCDS3124.1																																																																																				0.398	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		19	18	0	0	0	1	0	19	18				
RANBP17	64901	broad.mit.edu	37	5	170648770	170648770	+	Missense_Mutation	SNP	G	G	A	rs201284839		TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr5:170648770G>A	ENST00000523189.1	+	22	2512	c.2348G>A	c.(2347-2349)cGt>cAt	p.R783H	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	783					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGATCCCAGCGTTTGAATTTT	0.328			T	TRD@	ALL																																	ENST00000523189.1				Dom	yes		5	5q34	64901	T	RAN binding protein 17			L	TRD@		ALL		0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50						c.(2347-2349)cGt>cAt		RAN binding protein 17		G	HIS/ARG	0,4404		0,0,2202	97.0	94.0	95.0		2348	5.8	1.0	5		95	1,8595	1.2+/-3.3	0,1,4297	yes	missense	RANBP17	NM_022897.3	29	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	783/1089	170648770	1,12999	2202	4298	6500	SO:0001583	missense	64901				mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	g.chr5:170648770G>A	AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.2348G>A	5.37:g.170648770G>A	ENSP00000427975:p.Arg783His					RANBP17_ENST00000521759.1_3'UTR	p.R783H	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		22	2512	+	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	783					Q8IU74	Missense_Mutation	SNP	ENST00000523189.1	37	c.2348G>A	CCDS34287.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	22.4	4.279619	0.80692	0.0	1.16E-4	ENSG00000204764	ENST00000523189;ENST00000534916	T	0.53206	0.63	5.85	5.85	0.93711	Armadillo-type fold (1);	0.100897	0.44483	D	0.000448	T	0.75744	0.3891	M	0.93854	3.465	0.38764	D	0.954382	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.82448	-0.0452	10	0.62326	D	0.03	-10.9111	13.5768	0.61879	0.0734:0.0:0.9266:0.0	.	783;783	Q546R4;Q9H2T7	.;RBP17_HUMAN	H	783;213	ENSP00000427975:R783H	ENSP00000427975:R783H	R	+	2	0	RANBP17	170581375	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.367000	0.73099	2.773000	0.95371	0.655000	0.94253	CGT		0.328	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897		3	30	0	0	0	1	0	3	30				
FLG	2312	broad.mit.edu	37	1	152284630	152284630	+	Missense_Mutation	SNP	G	G	A	rs560401203		TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr1:152284630G>A	ENST00000368799.1	-	3	2767	c.2732C>T	c.(2731-2733)tCa>tTa	p.S911L	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	911	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGGTGACGTGACCCTGAGTG	0.572									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(2731-2733)tCa>tTa		filaggrin							387.0	365.0	373.0					1																	152284630		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152284630G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2732C>T	1.37:g.152284630G>A	ENSP00000357789:p.Ser911Leu					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.S911L	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2767	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		911			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.2732C>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	6.474	0.455615	0.12283	.	.	ENSG00000143631	ENST00000368799	T	0.05925	3.37	2.14	2.14	0.27477	.	.	.	.	.	T	0.07593	0.0191	M	0.78916	2.43	0.09310	N	1	D	0.59767	0.986	P	0.55222	0.771	T	0.16129	-1.0413	9	0.42905	T	0.14	.	7.4119	0.27021	0.0:0.0:1.0:0.0	.	911	P20930	FILA_HUMAN	L	911	ENSP00000357789:S911L	ENSP00000357789:S911L	S	-	2	0	FLG	150551254	0.045000	0.20229	0.001000	0.08648	0.006000	0.05464	2.706000	0.47135	1.005000	0.39183	0.479000	0.44913	TCA		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		131	492	0	0	0	1	0	131	492				
FERD3L	222894	broad.mit.edu	37	7	19184612	19184612	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr7:19184612C>T	ENST00000275461.3	-	1	432	c.374G>A	c.(373-375)cGg>cAg	p.R125Q	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	125	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell development (GO:0048468)|floor plate development (GO:0033504)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurogenesis (GO:0050767)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						CACCTTCCTCCGCAGCTGGTC	0.587																																						ENST00000275461.3																			0				breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						c.(373-375)cGg>cAg		Fer3-like bHLH transcription factor							117.0	91.0	100.0					7																	19184612		2203	4300	6503	SO:0001583	missense	222894				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:19184612C>T	AF369897	CCDS5368.1	7p21.3	2013-10-17	2013-10-17		ENSG00000146618	ENSG00000146618		"""Basic helix-loop-helix proteins"""	16660	protein-coding gene	gene with protein product			"""Fer3-like (Drosophila)"""			11472856, 12217327	Standard	NM_152898		Approved	NATO3, N-TWIST, bHLHa31	uc003suo.1	Q96RJ6	OTTHUMG00000090823	ENST00000275461.3:c.374G>A	7.37:g.19184612C>T	ENSP00000275461:p.Arg125Gln					AC003986.5_ENST00000452700.1_RNA	p.R125Q	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN			1	432	-			125			Helix-loop-helix motif.		Q495K0	Missense_Mutation	SNP	ENST00000275461.3	37	c.374G>A	CCDS5368.1	.	.	.	.	.	.	.	.	.	.	C	36	5.692697	0.96793	.	.	ENSG00000146618	ENST00000275461	D	0.98531	-4.98	5.66	5.66	0.87406	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99070	0.9681	M	0.85099	2.735	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99771	1.1024	10	0.87932	D	0	-15.8053	19.751	0.96268	0.0:1.0:0.0:0.0	.	125	Q96RJ6	FER3L_HUMAN	Q	125	ENSP00000275461:R125Q	ENSP00000275461:R125Q	R	-	2	0	FERD3L	19151137	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	7.818000	0.86416	2.693000	0.91896	0.650000	0.86243	CGG		0.587	FERD3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207627.1			27	20	0	0	0	1	0	27	20				
IGHMBP2	3508	broad.mit.edu	37	11	68700847	68700847	+	Missense_Mutation	SNP	C	C	T	rs373649545		TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr11:68700847C>T	ENST00000255078.3	+	9	1427	c.1316C>T	c.(1315-1317)aCg>aTg	p.T439M		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	439					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CGGACACTGACGGTGCAGTAC	0.642																																						ENST00000255078.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1315-1317)aCg>aTg		immunoglobulin mu binding protein 2		C	MET/THR	0,4400		0,0,2200	88.0	57.0	67.0		1316	1.9	0.0	11		67	1,8587	1.2+/-3.3	0,1,4293	no	missense	IGHMBP2	NM_002180.2	81	0,1,6493	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	439/994	68700847	1,12987	2200	4294	6494	SO:0001583	missense	3508				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding	g.chr11:68700847C>T	L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"""Zinc fingers, AN1-type domain containing"""	5542	protein-coding gene	gene with protein product	"""cardiac transcription factor 1"", ""zinc finger, AN1-type domain 7"""	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.1316C>T	11.37:g.68700847C>T	ENSP00000255078:p.Thr439Met						p.T439M	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		9	1427	+			439					A0PJD2|Q00443|Q14177	Missense_Mutation	SNP	ENST00000255078.3	37	c.1316C>T	CCDS8187.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.316441	0.40996	0.0	1.16E-4	ENSG00000132740	ENST00000255078	D	0.92752	-3.1	4.92	1.92	0.25849	DEAD-like helicase (1);	0.058989	0.64402	D	0.000002	D	0.94785	0.8316	M	0.92317	3.295	0.80722	D	1	D	0.60160	0.987	P	0.52424	0.698	D	0.93494	0.6838	10	0.62326	D	0.03	-8.8132	10.4923	0.44758	0.1409:0.5872:0.2719:0.0	.	439	P38935	SMBP2_HUMAN	M	439	ENSP00000255078:T439M	ENSP00000255078:T439M	T	+	2	0	IGHMBP2	68457423	0.996000	0.38824	0.018000	0.16275	0.013000	0.08279	3.473000	0.53122	0.107000	0.17824	-0.181000	0.13052	ACG		0.642	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396862.1	NM_002180		5	14	0	0	0	1	0	5	14				
SERPINH1	871	broad.mit.edu	37	11	75282848	75282848	+	Missense_Mutation	SNP	T	T	G			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr11:75282848T>G	ENST00000524558.1	+	5	2412	c.977T>G	c.(976-978)cTg>cGg	p.L326R	SERPINH1_ENST00000525876.1_Missense_Mutation_p.L109R|SERPINH1_ENST00000533603.1_Missense_Mutation_p.L326R|SERPINH1_ENST00000358171.3_Missense_Mutation_p.L326R			P50454	SERPH_HUMAN	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	326					chondrocyte development involved in endochondral bone morphogenesis (GO:0003433)|collagen biosynthetic process (GO:0032964)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|protein maturation (GO:0051604)|regulation of proteolysis (GO:0030162)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					GGGCTGGGCCTGACTGAGGCC	0.597																																						ENST00000524558.1																			0				endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15						c.(976-978)cTg>cGg		serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)							51.0	41.0	45.0					11																	75282848		2200	4293	6493	SO:0001583	missense	871				regulation of proteolysis|response to unfolded protein	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	collagen binding|serine-type endopeptidase inhibitor activity	g.chr11:75282848T>G	X61598	CCDS8239.1	11q13.5	2014-02-18	2005-08-18		ENSG00000149257	ENSG00000149257		"""Serine (or cysteine) peptidase inhibitors"""	1546	protein-coding gene	gene with protein product		600943	"""serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 2"", ""serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)"""	CBP1, CBP2, SERPINH2		7656593, 9533029, 24172014	Standard	NM_001207014		Approved	HSP47, colligen	uc001owr.3	P50454	OTTHUMG00000165362	ENST00000524558.1:c.977T>G	11.37:g.75282848T>G	ENSP00000434412:p.Leu326Arg					SERPINH1_ENST00000525876.1_Missense_Mutation_p.L109R|SERPINH1_ENST00000358171.3_Missense_Mutation_p.L326R|SERPINH1_ENST00000533603.1_Missense_Mutation_p.L326R	p.L326R			P50454	SERPH_HUMAN			5	2412	+	Ovarian(111;0.11)		326					B3KVJ3|P29043|Q5XPB4|Q6NSJ6|Q8IY96|Q9NP88	Missense_Mutation	SNP	ENST00000524558.1	37	c.977T>G	CCDS8239.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.615038	0.87359	.	.	ENSG00000149257	ENST00000533603;ENST00000358171;ENST00000421448;ENST00000524558;ENST00000525876	D;D;D;D	0.86164	-2.08;-2.08;-2.08;-2.08	5.27	5.27	0.74061	Serpin domain (3);	0.000000	0.85682	D	0.000000	D	0.93154	0.7820	M	0.80746	2.51	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93953	0.7233	10	0.87932	D	0	.	13.431	0.61055	0.0:0.0:0.0:1.0	.	326	P50454	SERPH_HUMAN	R	326;326;305;326;109	ENSP00000434657:L326R;ENSP00000350894:L326R;ENSP00000434412:L326R;ENSP00000433532:L109R	ENSP00000350894:L326R	L	+	2	0	SERPINH1	74960496	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.997000	0.88414	2.117000	0.64856	0.459000	0.35465	CTG		0.597	SERPINH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383610.1	NM_004353		23	17	0	0	0	1	0	23	17				
EMR1	2015	broad.mit.edu	37	19	6919630	6919630	+	Missense_Mutation	SNP	C	C	A			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr19:6919630C>A	ENST00000312053.4	+	13	1529	c.1492C>A	c.(1492-1494)Cac>Aac	p.H498N	EMR1_ENST00000250572.8_Missense_Mutation_p.H498N|EMR1_ENST00000381404.4_Missense_Mutation_p.H446N|EMR1_ENST00000381407.5_Missense_Mutation_p.H357N|EMR1_ENST00000450315.3_Missense_Mutation_p.H321N	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	498	Ser/Thr-rich.				cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CTTCAAAGACCACCAGGCTCC	0.483																																						ENST00000312053.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62						c.(1492-1494)Cac>Aac		egf-like module containing, mucin-like, hormone receptor-like 1							138.0	126.0	130.0					19																	6919630		2203	4300	6503	SO:0001583	missense	2015				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:6919630C>A	X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.1492C>A	19.37:g.6919630C>A	ENSP00000311545:p.His498Asn					EMR1_ENST00000250572.8_Missense_Mutation_p.H498N|EMR1_ENST00000450315.3_Missense_Mutation_p.H321N|EMR1_ENST00000381407.5_Missense_Mutation_p.H357N|EMR1_ENST00000381404.4_Missense_Mutation_p.H446N	p.H498N	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN			13	1529	+	all_hematologic(4;0.166)		498			Ser/Thr-rich.		A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP	ENST00000312053.4	37	c.1492C>A	CCDS12175.1	.	.	.	.	.	.	.	.	.	.	C	2.917	-0.224076	0.06061	.	.	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572;ENST00000381407;ENST00000450315	T;T;T;T;T	0.77098	-1.04;-1.07;-1.07;0.11;0.44	3.99	-0.831	0.10789	.	.	.	.	.	T	0.59418	0.2192	L	0.36672	1.1	0.09310	N	1	B;B;B;B;B	0.29805	0.204;0.05;0.257;0.167;0.167	B;B;B;B;B	0.26864	0.046;0.029;0.074;0.034;0.034	T	0.41161	-0.9524	9	0.17369	T	0.5	.	3.2259	0.06731	0.3617:0.431:0.0:0.2073	.	321;357;498;446;498	E7EPX9;B7Z486;Q14246-2;E9PD45;Q14246	.;.;.;.;EMR1_HUMAN	N	498;498;446;498;357;321	ENSP00000311545:H498N;ENSP00000370811:H446N;ENSP00000250572:H498N;ENSP00000370814:H357N;ENSP00000405974:H321N	ENSP00000250572:H498N	H	+	1	0	EMR1	6870630	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-0.398000	0.07259	-0.127000	0.11661	0.491000	0.48974	CAC		0.483	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1			27	57	1	0	8.24728e-16	1	9.26011e-16	27	57				
NDUFA13	51079	broad.mit.edu	37	19	19627058	19627058	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr19:19627058C>T	ENST00000507754.4	+	1	495	c.11C>T	c.(10-12)tCa>tTa	p.S4L	TSSK6_ENST00000360913.3_5'Flank|NDUFA13_ENST00000252576.5_Missense_Mutation_p.S87L|CTC-260F20.3_ENST00000555938.1_Missense_Mutation_p.S4L|TSSK6_ENST00000585580.3_5'Flank|YJEFN3_ENST00000608404.1_Missense_Mutation_p.S4L|CTC-260F20.3_ENST00000586674.1_3'UTR|NDUFA13_ENST00000512771.3_Missense_Mutation_p.S4L|NDUFA13_ENST00000503283.1_Missense_Mutation_p.S4L|NDUFA13_ENST00000428459.2_Missense_Mutation_p.S4L			Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13	4					apoptotic signaling pathway (GO:0097190)|cellular metabolic process (GO:0044237)|cellular response to interferon-beta (GO:0035458)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of peptidase activity (GO:0010952)|positive regulation of protein catabolic process (GO:0045732)|protein import into mitochondrial inner membrane (GO:0045039)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						ATGGCGGCGTCAAAGGTGAAG	0.612																																						ENST00000555938.1																			0											c.(10-12)tCa>tTa									45.0	49.0	47.0					19																	19627058		2203	4300	6503	SO:0001583	missense	0							g.chr19:19627058C>T	AF261134	CCDS12404.1, CCDS12404.2	19p13.11	2011-07-04			ENSG00000186010	ENSG00000186010		"""Mitochondrial respiratory chain complex / Complex I"""	17194	protein-coding gene	gene with protein product	"""complex I B16.6 subunit"""	609435				12837546, 10924506, 15367666	Standard	NM_015965		Approved	CGI-39, CDA016, GRIM-19, GRIM19, B16.6		Q9P0J0	OTTHUMG00000162211	ENST00000507754.4:c.11C>T	19.37:g.19627058C>T	ENSP00000423673:p.Ser4Leu					NDUFA13_ENST00000503283.1_Missense_Mutation_p.S4L|NDUFA13_ENST00000252576.5_Missense_Mutation_p.S87L|NDUFA13_ENST00000428459.2_Missense_Mutation_p.S4L|CTC-260F20.3_ENST00000586674.1_3'UTR|NDUFA13_ENST00000507754.3_Missense_Mutation_p.S4L	p.S4L							1	23	+								B4DF76|K7EK58|Q6PKI0|Q9H2L3|Q9Y327	Missense_Mutation	SNP	ENST00000507754.4	37	c.11C>T	CCDS12404.2	.	.	.	.	.	.	.	.	.	.	C	20.8	4.044976	0.75846	.	.	ENSG00000186010;ENSG00000186010;ENSG00000250067;ENSG00000258674	ENST00000507754;ENST00000252576;ENST00000553705;ENST00000555938	T;T;T	0.77750	-1.12;-1.12;-1.12	5.3	5.3	0.74995	.	0.065229	0.64402	D	0.000007	T	0.70727	0.3257	L	0.49778	1.585	0.29617	N	0.846495	P;B;B	0.38922	0.651;0.015;0.036	B;B;B	0.33392	0.163;0.029;0.05	T	0.68845	-0.5301	10	0.26408	T	0.33	.	16.5154	0.84299	0.0:1.0:0.0:0.0	.	4;4;4	E7ENQ6;B4DF76;Q9P0J0	.;.;NDUAD_HUMAN	L	4;87;4;4	ENSP00000423673:S4L;ENSP00000252576:S87L;ENSP00000452549:S4L	ENSP00000252576:S87L	S	+	2	0	YJEFN3;NDUFA13;CTC-260F20.3	19488058	0.999000	0.42202	1.000000	0.80357	0.568000	0.35870	2.666000	0.46799	2.504000	0.84457	0.650000	0.86243	TCA		0.612	NDUFA13-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367916.6	NM_015965		21	51	0	0	0	1	0	21	51				
EVX2	344191	broad.mit.edu	37	2	176944857	176944857	+	Missense_Mutation	SNP	T	T	A			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr2:176944857T>A	ENST00000308618.4	-	3	1545	c.1409A>T	c.(1408-1410)gAc>gTc	p.D470V		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	470					limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		CGGAGCCTCGTCCCTCTGGTC	0.726																																						ENST00000308618.4																			0				kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16						c.(1408-1410)gAc>gTc		even-skipped homeobox 2							7.0	8.0	8.0					2																	176944857		2137	4195	6332	SO:0001583	missense	344191					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176944857T>A		CCDS33333.1	2q31.1	2012-03-09	2007-02-15		ENSG00000174279	ENSG00000174279		"""Homeoboxes / ANTP class : HOXL subclass"""	3507	protein-coding gene	gene with protein product		142991	"""eve, even-skipped homeobox homolog 2 (Drosophila)"""			1675198	Standard	NM_001080458		Approved		uc010zeu.2	Q03828	OTTHUMG00000154173	ENST00000308618.4:c.1409A>T	2.37:g.176944857T>A	ENSP00000312385:p.Asp470Val						p.D470V	NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)	3	1545	-			470						Missense_Mutation	SNP	ENST00000308618.4	37	c.1409A>T	CCDS33333.1	.	.	.	.	.	.	.	.	.	.	T	17.74	3.464006	0.63513	.	.	ENSG00000174279	ENST00000308618	D	0.91945	-2.94	2.87	2.87	0.33458	.	0.188385	0.44688	D	0.000426	D	0.82806	0.5117	N	0.14661	0.345	0.58432	D	0.999999	B	0.34015	0.435	B	0.29524	0.103	T	0.83320	-0.0018	10	0.87932	D	0	.	11.3275	0.49456	0.0:0.0:0.0:1.0	.	470	Q03828	EVX2_HUMAN	V	470	ENSP00000312385:D470V	ENSP00000312385:D470V	D	-	2	0	EVX2	176653103	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.126000	0.77201	1.318000	0.45170	0.383000	0.25322	GAC		0.726	EVX2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359252.1			4	2	0	0	0	1	0	4	2				
FER1L6	654463	broad.mit.edu	37	8	124985750	124985750	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr8:124985750C>G	ENST00000522917.1	+	7	730	c.524C>G	c.(523-525)cCt>cGt	p.P175R	FER1L6_ENST00000399018.1_Missense_Mutation_p.P175R	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	175						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TACAACCAACCTGGTAAGAAA	0.468																																						ENST00000522917.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(523-525)cCt>cGt		fer-1-like 6 (C. elegans)							160.0	162.0	162.0					8																	124985750		1960	4157	6117	SO:0001583	missense	654463					integral to membrane		g.chr8:124985750C>G	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.524C>G	8.37:g.124985750C>G	ENSP00000428280:p.Pro175Arg					FER1L6_ENST00000399018.1_Missense_Mutation_p.P175R	p.P175R	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		7	730	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		175						Missense_Mutation	SNP	ENST00000522917.1	37	c.524C>G	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.829502	0.71258	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.84223	-1.82;-1.82	5.89	5.89	0.94794	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);FerIin domain (1);	0.000000	0.64402	U	0.000002	D	0.94056	0.8095	M	0.89478	3.035	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94280	0.7519	10	0.87932	D	0	.	20.2576	0.98430	0.0:1.0:0.0:0.0	.	175	Q2WGJ9	FR1L6_HUMAN	R	175	ENSP00000428280:P175R;ENSP00000381982:P175R	ENSP00000381982:P175R	P	+	2	0	FER1L6	125054931	1.000000	0.71417	0.998000	0.56505	0.278000	0.26855	7.562000	0.82300	2.783000	0.95769	0.655000	0.94253	CCT		0.468	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		6	33	0	0	0	1	0	6	33				
HNRNPM	4670	broad.mit.edu	37	19	8555521	8555521	+	IGR	SNP	G	G	A			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr19:8555521G>A	ENST00000325495.4	+	0	2494				PRAM1_ENST00000423345.4_Silent_p.F621F|PRAM1_ENST00000255612.3_Silent_p.F620F	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M						alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723)			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						CATTGCTGGTGAACTCGATCA	0.662																																						ENST00000423345.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						c.(1861-1863)ttC>ttT		PML-RARA regulated adaptor molecule 1							17.0	21.0	20.0					19																	8555521		2004	4159	6163	SO:0001628	intergenic_variant	84106						lipid binding|protein binding	g.chr19:8555521G>A	L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783		"""RNA binding motif (RRM) containing"""	5046	protein-coding gene	gene with protein product	"""CEA receptor"""	160994		NAGR1, HNRPM		8441656, 7558047	Standard	NM_005968		Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383		19.37:g.8555521G>A						PRAM1_ENST00000255612.3_Silent_p.F620F	p.F621F			Q96QH2	PRAM_HUMAN			7	2383	-			669					Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Silent	SNP	ENST00000325495.4	37	c.1863C>T	CCDS12203.1																																																																																				0.662	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1			4	25	0	0	0	1	0	4	25				
MT-ND5	4540	broad.mit.edu	37	M	12618	12618	+	Silent	SNP	G	G	A			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chrM:12618G>A	ENST00000361567.2	+	1	282	c.282G>A	c.(280-282)ttG>ttA	p.L94L	MT-TL2_ENST00000387456.1_RNA|MT-TR_ENST00000387439.1_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TE_ENST00000387459.1_RNA|MT-TG_ENST00000387429.1_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TH_ENST00000387441.1_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	94					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						CCTGTAGCATTGTTCGTTACA	0.378																																						ENST00000361567.2																			0				breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						c.(280-282)ttG>ttA		mitochondrially encoded NADH dehydrogenase 5	NADH(DB00157)																																			SO:0001819	synonymous_variant	4540				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chrM:12618G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.282G>A	M.37:g.12618G>A							p.L94L			P03915	NU5M_HUMAN			1	282	+			94					Q34773|Q8WCY3	Silent	SNP	ENST00000361567.2	37	c.282G>A																																																																																					0.378	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024036		80	1	0	0	0	1	0	80	1				
KANSL3	55683	broad.mit.edu	37	2	97271234	97271234	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr2:97271234C>G	ENST00000431828.1	-	15	1832	c.1756G>C	c.(1756-1758)Gaa>Caa	p.E586Q	KANSL3_ENST00000441706.2_Missense_Mutation_p.E499Q|KANSL3_ENST00000440133.1_Missense_Mutation_p.E406Q|KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000599854.1_Missense_Mutation_p.E499Q			Q9P2N6	KANL3_HUMAN	KAT8 regulatory NSL complex subunit 3	612					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											TCTGGTGGTTCTGATGAAATG	0.498																																						ENST00000599854.1																			0											c.(1495-1497)Gaa>Caa		KAT8 regulatory NSL complex subunit 3							101.0	100.0	100.0					2																	97271234		1980	4163	6143	SO:0001583	missense	55683							g.chr2:97271234C>G	BC063792	CCDS46361.1	2q11.2	2011-10-31	2011-10-31	2011-10-31	ENSG00000114982	ENSG00000114982			25473	protein-coding gene	gene with protein product			"""KIAA1310"""	KIAA1310			Standard	NM_001115016		Approved	FLJ10081, Rcd1, NSL3	uc002swn.5	Q9P2N6	OTTHUMG00000155249	ENST00000431828.1:c.1756G>C	2.37:g.97271234C>G	ENSP00000396749:p.Glu586Gln					KANSL3_ENST00000441706.2_Missense_Mutation_p.E499Q|KANSL3_ENST00000440133.1_Missense_Mutation_p.E406Q|KANSL3_ENST00000431828.1_Missense_Mutation_p.E586Q|KANSL3_ENST00000487070.1_5'UTR	p.E499Q	NM_001115016.2	NP_001108488.1	Q9P2N6	K1310_HUMAN			15	1962	-			612					A1L184|D3DXH3|D3DXH4|Q05BU4|Q6P3X2|Q6PJH6|Q86T19|Q96L64|Q9H0C9|Q9H8C9|Q9HAP8|Q9NWE5	Missense_Mutation	SNP	ENST00000431828.1	37	c.1495G>C	CCDS46361.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.137067	0.56936	.	.	ENSG00000114982	ENST00000354204;ENST00000447759;ENST00000431828;ENST00000441706;ENST00000440133;ENST00000444759	T;T	0.49139	0.79;0.82	5.89	5.89	0.94794	.	0.114991	0.64402	D	0.000016	T	0.34106	0.0886	N	0.19112	0.55	0.80722	D	1	B;B;B;B	0.34290	0.003;0.241;0.005;0.447	B;B;B;B	0.31812	0.002;0.136;0.003;0.136	T	0.09952	-1.0651	10	0.20046	T	0.44	.	17.7556	0.88447	0.0:1.0:0.0:0.0	.	380;586;499;474	B4E1W4;Q9P2N6-3;Q9P2N6-5;Q9P2N6-6	.;.;.;.	Q	499;474;586;499;406;380	ENSP00000396749:E586Q;ENSP00000406207:E406Q	ENSP00000346144:E499Q	E	-	1	0	KIAA1310	96634961	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	5.202000	0.65169	2.793000	0.96121	0.655000	0.94253	GAA		0.498	KANSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339040.2	NM_017991		87	52	0	0	0	1	0	87	52				
PPP2R1A	5518	broad.mit.edu	37	19	52715971	52715971	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr19:52715971C>G	ENST00000322088.6	+	5	594	c.536C>G	c.(535-537)cCc>cGc	p.P179R	PPP2R1A_ENST00000462990.1_5'UTR|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.P124R	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	179	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)	p.P179R(21)|p.P179L(5)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		GATGACACCCCCATGGTGCGG	0.612			Mis		clear cell ovarian carcinoma																																	ENST00000322088.6				Dom?	yes		19	19q13.41	5518	Mis	"""protein phosphatase 2, regulatory subunit A, alpha"""			E			clear cell ovarian carcinoma		26	Substitution - Missense(26)	p.P179R(21)|p.P179L(5)	endometrium(25)|ovary(1)	NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135						c.(535-537)cCc>cGc		protein phosphatase 2, regulatory subunit A, alpha							61.0	52.0	55.0					19																	52715971		2203	4300	6503	SO:0001583	missense	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52715971C>G		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9302	protein-coding gene	gene with protein product	"""protein phosphatase 2A, regulatory subunit A, alpha isoform"", ""protein phosphatase 2, 65kDa regulatory subunit A"""	605983	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"""				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.536C>G	19.37:g.52715971C>G	ENSP00000324804:p.Pro179Arg					PPP2R1A_ENST00000462990.1_5'UTR|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.P124R	p.P179R	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	5	594	+			179			PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	c.536C>G	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.457832	0.84317	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000444322	T;T	0.16597	2.33;2.33	4.5	4.5	0.54988	Armadillo-like helical (1);Armadillo-type fold (1);	0.092820	0.45867	D	0.000326	T	0.55226	0.1907	H	0.96239	3.79	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.995;0.995	T	0.70695	-0.4801	10	0.87932	D	0	-22.0504	15.1189	0.72426	0.0:1.0:0.0:0.0	.	124;179;179	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	R	169;99;179;124	ENSP00000324804:P179R;ENSP00000415067:P124R	ENSP00000324804:P179R	P	+	2	0	PPP2R1A	57407783	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.760000	0.74939	2.503000	0.84419	0.655000	0.94253	CCC		0.612	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		37	42	0	0	0	1	0	37	42				
MXRA5	25878	broad.mit.edu	37	X	3235472	3235472	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chrX:3235472C>T	ENST00000217939.6	-	6	6404	c.6250G>A	c.(6250-6252)Ggg>Agg	p.G2084R		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2084	Ig-like C2-type 5.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTACCGTCCCCGAGCACCCAG	0.642																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(6250-6252)Ggg>Agg		matrix-remodelling associated 5							25.0	23.0	24.0					X																	3235472		2185	4272	6457	SO:0001583	missense	25878					extracellular region		g.chrX:3235472C>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.6250G>A	X.37:g.3235472C>T	ENSP00000217939:p.Gly2084Arg						p.G2084R	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			6	6404	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2084			Ig-like C2-type 5.		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.6250G>A	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	c	0.514	-0.865153	0.02590	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.66638	-0.22	3.63	-7.26	0.01466	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	3.174370	0.01532	N	0.018867	T	0.32823	0.0842	N	0.01505	-0.83	0.09310	N	1	B	0.17268	0.021	B	0.14023	0.01	T	0.39722	-0.9600	10	0.21540	T	0.41	.	4.6789	0.12725	0.5247:0.1009:0.2942:0.0803	.	2084	Q9NR99	MXRA5_HUMAN	R	2084	ENSP00000217939:G2084R	ENSP00000217939:G2084R	G	-	1	0	MXRA5	3245472	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	0.486000	0.22340	-3.382000	0.00175	-0.325000	0.08501	GGG		0.642	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		13	10	0	0	0	1	0	13	10				
LRP2	4036	broad.mit.edu	37	2	170058203	170058203	+	Missense_Mutation	SNP	C	C	T	rs552943504		TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr2:170058203C>T	ENST00000263816.3	-	44	8672	c.8387G>A	c.(8386-8388)cGt>cAt	p.R2796H		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2796	LDL-receptor class A 18. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	GATAAACTCACGAGGTATGCA	0.433																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(8386-8388)cGt>cAt		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						171.0	153.0	159.0					2																	170058203		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170058203C>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.8387G>A	2.37:g.170058203C>T	ENSP00000263816:p.Arg2796His						p.R2796H	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	44	8672	-			2796			LDL-receptor class A 18.		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.8387G>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.032360	0.35893	.	.	ENSG00000081479	ENST00000263816	D	0.95622	-3.76	5.92	0.695	0.18070	.	0.622966	0.17896	N	0.158355	D	0.92021	0.7472	L	0.39147	1.195	0.18873	N	0.999984	D	0.62365	0.991	P	0.49332	0.607	D	0.85132	0.0975	10	0.45353	T	0.12	.	4.1323	0.10154	0.445:0.3647:0.0657:0.1246	.	2796	P98164	LRP2_HUMAN	H	2796	ENSP00000263816:R2796H	ENSP00000263816:R2796H	R	-	2	0	LRP2	169766449	0.720000	0.27996	0.001000	0.08648	0.387000	0.30353	1.486000	0.35530	-0.110000	0.12022	-1.051000	0.02340	CGT		0.433	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		38	30	0	0	0	1	0	38	30				
CROCCP2	84809	broad.mit.edu	37	1	16946438	16946438	+	lincRNA	SNP	G	G	A	rs28392876	byFrequency	TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr1:16946438G>A	ENST00000412962.1	-	0	1081				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											GCCTTCCGCCGGGCCAGCAGC	0.672																																						ENST00000412962.1																			0																																																			0							g.chr1:16946438G>A	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946438G>A														0	1081	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		3	16	0	0	0	1	0	3	16				
PITPNC1	26207	broad.mit.edu	37	17	65688807	65688807	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr17:65688807G>A	ENST00000581322.1	+	9	802	c.802G>A	c.(802-804)Gtc>Atc	p.V268I	PITPNC1_ENST00000335257.6_Missense_Mutation_p.V268I|PITPNC1_ENST00000580974.1_3'UTR|PITPNC1_ENST00000299954.9_3'UTR			Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1	268					phospholipid transport (GO:0015914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)	p.V268I(2)		breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			GCCTTCTTCCGTCCGCAGTGC	0.557																																						ENST00000335257.6																			2	Substitution - Missense(2)	p.V268I(2)	prostate(1)|lung(1)	breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17						c.(802-804)Gtc>Atc		phosphatidylinositol transfer protein, cytoplasmic 1							121.0	127.0	125.0					17																	65688807		1991	4162	6153	SO:0001583	missense	26207				signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding	g.chr17:65688807G>A	AF171102	CCDS58587.1, CCDS58588.1	17q24.3	2008-02-05							21045	protein-coding gene	gene with protein product		605134				10531358	Standard	NM_012417		Approved	RDGBB1, RDGBB, RDGB-BETA	uc002jgc.4	Q9UKF7		ENST00000581322.1:c.802G>A	17.37:g.65688807G>A	ENSP00000464006:p.Val268Ile					PITPNC1_ENST00000581322.1_Missense_Mutation_p.V268I|PITPNC1_ENST00000299954.9_3'UTR|PITPNC1_ENST00000580974.1_3'UTR	p.V268I			Q9UKF7	PITC1_HUMAN	BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)		9	1149	+	all_cancers(12;3.03e-10)		268					A8K473|J3QR20|Q96I07	Missense_Mutation	SNP	ENST00000581322.1	37	c.802G>A	CCDS58588.1	.	.	.	.	.	.	.	.	.	.	G	8.254	0.809691	0.16537	.	.	ENSG00000154217	ENST00000335257	T	0.44083	0.93	5.75	3.59	0.41128	.	0.222920	0.47455	D	0.000223	T	0.16811	0.0404	N	0.03608	-0.345	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.05257	-1.0896	10	0.34782	T	0.22	-1.2887	4.3035	0.10935	0.3704:0.0:0.6296:0.0	.	268	Q9UKF7	PITC1_HUMAN	I	268	ENSP00000335618:V268I	ENSP00000335618:V268I	V	+	1	0	PITPNC1	63119269	1.000000	0.71417	0.882000	0.34594	0.097000	0.18754	4.034000	0.57289	1.451000	0.47736	-0.136000	0.14681	GTC		0.557	PITPNC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447194.1	NM_012417		102	15	0	0	0	1	0	102	15				
PPOX	5498	broad.mit.edu	37	1	161138253	161138253	+	Missense_Mutation	SNP	G	G	A	rs41270025		TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr1:161138253G>A	ENST00000367999.4	+	6	769	c.503G>A	c.(502-504)cGt>cAt	p.R168H	PPOX_ENST00000544598.1_Intron|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000495483.1_3'UTR|B4GALT3_ENST00000470882.1_5'Flank|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000352210.5_Missense_Mutation_p.R168H	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	168			R -> C (in VP; strongly decreases enzyme activity; does not affect mitochondrial protein targeting and localization). {ECO:0000269|PubMed:8673113, ECO:0000269|PubMed:8817334}.|R -> H (in VP; strongly decreases enzyme activity). {ECO:0000269|PubMed:10486317}.		heme biosynthetic process (GO:0006783)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound biosynthetic process (GO:0006779)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of mitochondrial inner membrane (GO:0031304)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)	flavin adenine dinucleotide binding (GO:0050660)|oxygen-dependent protoporphyrinogen oxidase activity (GO:0004729)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AGTCTCTGCCGTGGAGTGTTT	0.512																																						ENST00000367999.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	GRCh37	CM992655	PPOX	M	rs41270025	c.(502-504)cGt>cAt		protoporphyrinogen oxidase							148.0	132.0	137.0					1																	161138253		2203	4300	6503	SO:0001583	missense	5498				heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity	g.chr1:161138253G>A	BC002357	CCDS1221.1	1q22	2008-02-05			ENSG00000143224	ENSG00000143224	1.3.3.4		9280	protein-coding gene	gene with protein product		600923	"""variegate porphyria"""	VP		8575762, 10457135	Standard	NM_000309		Approved	PPO	uc001fyg.2	P50336	OTTHUMG00000034342	ENST00000367999.4:c.503G>A	1.37:g.161138253G>A	ENSP00000356978:p.Arg168His					PPOX_ENST00000535223.1_Intron|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000352210.5_Missense_Mutation_p.R168H|PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000544598.1_Intron	p.R168H	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		6	769	+	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		168		R -> C.			D3DVG0|Q5VTW8	Missense_Mutation	SNP	ENST00000367999.4	37	c.503G>A	CCDS1221.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.730578	0.89390	.	.	ENSG00000143224	ENST00000352210;ENST00000367999;ENST00000435935	D;D	0.92647	-3.08;-3.08	5.23	5.23	0.72850	Amine oxidase (1);	0.000000	0.85682	D	0.000000	D	0.90089	0.6904	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	0.979;1.0;1.0	P;D;D	0.97110	0.768;1.0;1.0	D	0.86385	0.1732	10	0.09084	T	0.74	7.6261	17.7413	0.88407	0.0:0.0:1.0:0.0	.	135;6;168	B4DY76;B3KT30;P50336	.;.;PPOX_HUMAN	H	168;168;135	ENSP00000343943:R168H;ENSP00000356978:R168H	ENSP00000343943:R168H	R	+	2	0	PPOX	159404877	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	8.085000	0.89518	2.701000	0.92244	0.650000	0.86243	CGT		0.512	PPOX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082993.1	NM_000309		65	69	0	0	0	1	0	65	69				
PRAM1	84106	broad.mit.edu	37	19	8564555	8564555	+	Missense_Mutation	SNP	T	T	A			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr19:8564555T>A	ENST00000423345.4	-	2	657	c.137A>T	c.(136-138)aAg>aTg	p.K46M	PRAM1_ENST00000255612.3_Missense_Mutation_p.K46M			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	46	Pro-rich.				integrin-mediated signaling pathway (GO:0007229)|regulation of neutrophil degranulation (GO:0043313)		lipid binding (GO:0008289)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						CTGGGAGAACTTCTTCAGTTT	0.592																																						ENST00000423345.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						c.(136-138)aAg>aTg		PML-RARA regulated adaptor molecule 1							48.0	56.0	54.0					19																	8564555		1995	4162	6157	SO:0001583	missense	84106						lipid binding|protein binding	g.chr19:8564555T>A	BC028012	CCDS45954.1, CCDS45954.2	19p13.2	2009-01-21				ENSG00000133246			30091	protein-coding gene	gene with protein product		606466				11301322, 15572693	Standard	NM_032152		Approved	PML-RAR	uc002mkd.3	Q96QH2		ENST00000423345.4:c.137A>T	19.37:g.8564555T>A	ENSP00000408342:p.Lys46Met					PRAM1_ENST00000255612.3_Missense_Mutation_p.K46M	p.K46M			Q96QH2	PRAM_HUMAN			2	657	-			46			Pro-rich.		Q8N6W7	Missense_Mutation	SNP	ENST00000423345.4	37	c.137A>T	CCDS45954.2	.	.	.	.	.	.	.	.	.	.	T	13.11	2.139791	0.37728	.	.	ENSG00000133246	ENST00000255612;ENST00000423345;ENST00000536152	T;T	0.24908	1.83;1.83	4.92	2.68	0.31781	.	0.000000	0.44285	D	0.000479	T	0.43122	0.1233	M	0.76328	2.33	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.15122	-1.0448	10	0.72032	D	0.01	.	4.1689	0.10320	0.0:0.1072:0.211:0.6817	.	46;46	Q96QH2-2;Q96QH2	.;PRAM_HUMAN	M	46;46;1	ENSP00000255612:K46M;ENSP00000408342:K46M	ENSP00000255612:K46M	K	-	2	0	PRAM1	8470555	0.259000	0.24043	0.983000	0.44433	0.095000	0.18619	0.754000	0.26390	1.974000	0.57490	0.482000	0.46254	AAG		0.592	PRAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397040.3	NM_032152		21	133	0	0	0	1	0	21	133				
TP53	7157	broad.mit.edu	37	17	7579591	7579591	+	Splice_Site	SNP	C	C	G			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr17:7579591C>G	ENST00000269305.4	-	4	286		c.e4-1		TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site	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						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.?(8)|p.0?(8)|p.L35fs*10(3)|p.S33fs*10(1)|p.P13fs*18(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)	GCAAGGGGGACTGTAGATGGG	0.592		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		21	Unknown(11)|Whole gene deletion(8)|Insertion - Frameshift(1)|Deletion - Frameshift(1)	p.?(8)|p.0?(8)|p.L35fs*10(3)|p.S33fs*10(1)|p.P13fs*18(1)	bone(4)|large_intestine(3)|central_nervous_system(3)|lung(3)|pancreas(3)|upper_aerodigestive_tract(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(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	GRCh37	CS971912	TP53	S		c.e4-1	Other conserved DNA damage response genes	tumor protein p53							141.0	137.0	138.0					17																	7579591		2203	4300	6503	SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579591C>G	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.97-1G>C	17.37:g.7579591C>G		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)				TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site		NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	229	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						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	Splice_Site	SNP	ENST00000269305.4	37		CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	6.036	0.374935	0.11409	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	2.49	2.49	0.30216	.	.	.	.	.	.	.	.	.	.	.	0.40870	D	0.9839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.6143	0.33822	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7520316	0.879000	0.30193	0.021000	0.16686	0.027000	0.11550	1.937000	0.40193	1.730000	0.51580	0.561000	0.74099	.		0.592	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	54	18	0	0	0	1	0	54	18				
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T	rs201682072		TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393																																						ENST00000435989.2																			10	Substitution - Missense(10)	p.D404E(10)	urinary_tract(3)|kidney(3)|prostate(2)|NS(1)|skin(1)	NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(1210-1212)gaC>gaA		zinc finger protein 814							117.0	93.0	100.0					19																	58385546		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385546G>T		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1212C>A	19.37:g.58385546G>T	ENSP00000410545:p.Asp404Glu					ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron	p.D404E	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN			3	1446	-			404					A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.1212C>A	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	11.12	1.545823	0.27652	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.14640	2.49	2.33	-4.66	0.03329	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04363	0.0120	N	0.03177	-0.4	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.33574	-0.9863	9	0.54805	T	0.06	.	1.2175	0.01917	0.3897:0.3041:0.1331:0.1731	.	404	B7Z6K7	ZN814_HUMAN	E	404;266	ENSP00000410545:D404E	ENSP00000365378:D266E	D	-	3	2	ZNF814	63077358	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.489000	0.02306	-2.531000	0.00491	-1.292000	0.01352	GAC		0.393	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		3	14	1	0	0.115264	1	0.115264	3	14				
PROS1	5627	broad.mit.edu	37	3	93603724	93603724	+	Missense_Mutation	SNP	T	T	C			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr3:93603724T>C	ENST00000394236.3	-	12	1656	c.1340A>G	c.(1339-1341)gAt>gGt	p.D447G	PROS1_ENST00000407433.1_Missense_Mutation_p.D316G	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	447	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	TATACATCCATCTAGACGAGG	0.343																																						ENST00000394236.3																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46						c.(1339-1341)gAt>gGt		protein S (alpha)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)						50.0	46.0	47.0					3																	93603724		2203	4300	6503	SO:0001583	missense	5627				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	g.chr3:93603724T>C		CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.1340A>G	3.37:g.93603724T>C	ENSP00000377783:p.Asp447Gly					PROS1_ENST00000407433.1_Missense_Mutation_p.D316G	p.D447G	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN			12	1656	-			447			Laminin G-like 1.		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	ENST00000394236.3	37	c.1340A>G	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	T	19.32	3.805648	0.70682	.	.	ENSG00000184500	ENST00000394236;ENST00000407433	T;T	0.76709	-1.04;-1.04	3.78	3.78	0.43462	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.88724	0.6514	M	0.89478	3.035	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.90548	0.4507	10	0.87932	D	0	.	12.357	0.55182	0.0:0.0:0.0:1.0	.	447	P07225	PROS_HUMAN	G	447;316	ENSP00000377783:D447G;ENSP00000385794:D316G	ENSP00000377783:D447G	D	-	2	0	PROS1	95086414	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.519000	0.81809	1.589000	0.49982	0.459000	0.35465	GAT		0.343	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313		10	27	0	0	0	1	0	10	27				
GPR128	84873	broad.mit.edu	37	3	100364805	100364805	+	Silent	SNP	C	C	T			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr3:100364805C>T	ENST00000273352.3	+	9	1231	c.963C>T	c.(961-963)tgC>tgT	p.C321C	GPR128_ENST00000475887.1_Silent_p.C26C|SNORA31_ENST00000517180.1_RNA	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	321					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						CCAAGACATGCGGCTTTGTAG	0.308																																					Pancreas(87;185 1975 7223 18722)	ENST00000273352.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						c.(961-963)tgC>tgT		G protein-coupled receptor 128							71.0	67.0	68.0					3																	100364805		2202	4299	6501	SO:0001819	synonymous_variant	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100364805C>T	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.963C>T	3.37:g.100364805C>T						GPR128_ENST00000475887.1_Silent_p.C26C	p.C321C	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN			9	1231	+			321					Q14D94|Q86SQ2	Silent	SNP	ENST00000273352.3	37	c.963C>T	CCDS2938.1																																																																																				0.308	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			13	20	0	0	0	1	0	13	20				
FNDC3A	22862	broad.mit.edu	37	13	49772644	49772644	+	Missense_Mutation	SNP	G	G	T			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr13:49772644G>T	ENST00000492622.2	+	23	3226	c.2921G>T	c.(2920-2922)gGa>gTa	p.G974V	FNDC3A_ENST00000398316.3_Missense_Mutation_p.G918V|FNDC3A_ENST00000541916.1_Missense_Mutation_p.G974V	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	974	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		TGGGGAGAAGGAACTCCAAAG	0.403																																						ENST00000492622.2																			0				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41						c.(2920-2922)gGa>gTa		fibronectin type III domain containing 3A							129.0	116.0	121.0					13																	49772644		2203	4300	6503	SO:0001583	missense	22862					Golgi membrane|integral to membrane		g.chr13:49772644G>T	AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"""Fibronectin type III domain containing"""	20296	protein-coding gene	gene with protein product		615794	"""fibronectin type III domain containing 3"""	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.2921G>T	13.37:g.49772644G>T	ENSP00000417257:p.Gly974Val					FNDC3A_ENST00000541916.1_Missense_Mutation_p.G974V|FNDC3A_ENST00000398316.3_Missense_Mutation_p.G918V	p.G974V	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)	23	3226	+		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	974			Fibronectin type-III 8.		B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Missense_Mutation	SNP	ENST00000492622.2	37	c.2921G>T	CCDS41886.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.746113	0.69418	.	.	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	T;T;T	0.56103	0.48;0.48;0.48	6.06	6.06	0.98353	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	T	0.59293	0.2183	M	0.66378	2.025	0.80722	D	1	P;P	0.45531	0.86;0.621	B;P	0.44897	0.43;0.463	T	0.56257	-0.8009	10	0.34782	T	0.22	-9.8051	19.6279	0.95687	0.0:0.0:1.0:0.0	.	918;974	Q9Y2H6-2;Q9Y2H6	.;FND3A_HUMAN	V	974;910;974;918	ENSP00000417257:G974V;ENSP00000441831:G974V;ENSP00000381362:G918V	ENSP00000338579:G910V	G	+	2	0	FNDC3A	48670645	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.880000	0.98712	0.650000	0.86243	GGA		0.403	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	NM_014923		21	50	1	0	1.87028e-06	1	1.96226e-06	21	50				
ESPNP	284729	broad.mit.edu	37	1	17034125	17034126	+	RNA	INS	-	-	AGCT	rs141324796|rs79472512	byFrequency	TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr1:17034125_17034126insAGCT	ENST00000492551.1	-	0	477_478					NR_026567.1				espin pseudogene																		CAGCAGCAGCCAGCTGAGCACC	0.718														1500	0.299521	0.1188	0.3444	5008	,	,		24180	0.4177		0.3101	False		,,,				2504	0.3793					ENST00000492551.1																			0																																																			0							g.chr1:17034125_17034126insAGCT	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17034126_17034129dupAGCT								NR_026567.1						0	477_478	-									RNA	INS	ENST00000492551.1	37																																																																																						0.718	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			9	3						9	3	---	---	---	---
SEC22B	9554	broad.mit.edu	37	1	145109975	145109976	+	RNA	INS	-	-	C	rs376446977|rs11458983		TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr1:145109975_145109976insC	ENST00000453618.1	+	0	673							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											CAGGAACTTTGCTAAAGATCTA	0.386																																						ENST00000453618.1																			0													SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)																																						9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145109975_145109976insC	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145109976_145109976dupC										O75396	SC22B_HUMAN			0	673	+								A8K1G0	RNA	INS	ENST00000453618.1	37																																																																																						0.386	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		3	3						3	3	---	---	---	---
LINC01250	101927554	broad.mit.edu	37	2	2910722	2910723	+	lincRNA	INS	-	-	T	rs373675312		TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr2:2910722_2910723insT	ENST00000457478.1	-	0	594																											tccaccccctctccccagccca	0.708																																						ENST00000457478.1																			0																																																			0							g.chr2:2910722_2910723insT																													2.37:g.2910723_2910723dupT														0	594	-									RNA	INS	ENST00000457478.1	37																																																																																						0.708	AC019118.2-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000322597.1			7	7						7	7	---	---	---	---
LINC01410	103352539	broad.mit.edu	37	9	66463991	66463992	+	lincRNA	DEL	TT	TT	-	rs146846716		TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr9:66463991_66463992delTT	ENST00000424345.1	+	0	224																											AGCCATTCTCTTTTCATTCCCC	0.446																																						ENST00000424345.1																			0																																																			0							g.chr9:66463991_66463992delTT																													9.37:g.66463993_66463994delTT														0	224	+									RNA	DEL	ENST00000424345.1	37																																																																																						0.446	RP11-262H14.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000128851.1			2	4						2	4	---	---	---	---
KTN1-AS1	100129075	broad.mit.edu	37	14	56014174	56014174	+	RNA	DEL	G	G	-	rs375963888|rs372958232		TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr14:56014174delG	ENST00000554558.1	-	0	364							Q86SY8	KTAS1_HUMAN	KTN1 antisense RNA 1																		aaaaaaaaaagaaTTGGCACA	0.443																																						ENST00000554558.1																			0																																																			0							g.chr14:56014174delG			14q22.3	2012-10-12	2012-08-15	2011-12-07	ENSG00000186615	ENSG00000186615		"""Long non-coding RNAs"""	19842	non-coding RNA	RNA, long non-coding			"""chromosome 14 open reading frame 33"", ""KTN1 antisense RNA 1 (non-protein coding)"""	C14orf33			Standard	NR_027123		Approved		uc001xbz.2	Q86SY8	OTTHUMG00000171057		14.37:g.56014174delG														0	364	-									RNA	DEL	ENST00000554558.1	37																																																																																						0.443	KTN1-AS1-004	KNOWN	basic	antisense	antisense	OTTHUMT00000411452.1	NR_027123		5	11						5	11	---	---	---	---
RP5-991G20.1	0	broad.mit.edu	37	16	72763869	72763869	+	RNA	DEL	A	A	-			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr16:72763869delA	ENST00000563328.2	+	0	164																											GGTCCAAAACAAAAAAAAAAA	0.433																																						ENST00000563328.2																			0																																																			0							g.chr16:72763869delA																													16.37:g.72763869delA														0	164	+									RNA	DEL	ENST00000563328.2	37																																																																																						0.433	RP5-991G20.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000421937.2			3	5						3	5	---	---	---	---
RP11-757O6.1	0	broad.mit.edu	37	18	14249606	14249609	+	lincRNA	DEL	ATAT	ATAT	-			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr18:14249606_14249609delATAT	ENST00000580200.1	+	0	271																											TTCTCATAAAATATATAACATTAC	0.216																																						ENST00000580200.1																			0																																																			0							g.chr18:14249606_14249609delATAT																													18.37:g.14249606_14249609delATAT														0	271	+									RNA	DEL	ENST00000580200.1	37																																																																																						0.216	RP11-757O6.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000442841.1			2	4						2	4	---	---	---	---
DSN1	79980	broad.mit.edu	37	20	35399395	35399409	+	In_Frame_Del	DEL	TGAAGGGACTTCGAC	TGAAGGGACTTCGAC	-	rs563758920		TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr20:35399395_35399409delTGAAGGGACTTCGAC	ENST00000426836.1	-	3	594_608	c.222_236delGTCGAAGTCCCTTCA	c.(220-237)cagtcgaagtcccttcat>cat	p.QSKSL74del	DSN1_ENST00000473615.1_Intron|DSN1_ENST00000448110.2_In_Frame_Del_p.QSKSL58del|DSN1_ENST00000373750.4_In_Frame_Del_p.QSKSL74del|DSN1_ENST00000373745.3_In_Frame_Del_p.QSKSL74del|DSN1_ENST00000373740.3_Intron|DSN1_ENST00000373734.4_Intron	NM_001145316.1	NP_001138788.1	Q9H410	DSN1_HUMAN	DSN1, MIS12 kinetochore complex component	74					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|MIS12/MIND type complex (GO:0000444)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16		Myeloproliferative disorder(115;0.00874)				AGGAGACAAATGAAGGGACTTCGACTGAAGTCTTT	0.498																																						ENST00000426836.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16						c.(220-237)cat>ca		DSN1, MIS12 kinetochore complex component																																				SO:0001651	inframe_deletion	79980				cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding	g.chr20:35399395_35399409delTGAAGGGACTTCGAC	AK023408	CCDS13286.1, CCDS46596.1, CCDS46597.1	20q11.23	2013-07-03	2013-07-03	2006-11-07	ENSG00000149636	ENSG00000149636			16165	protein-coding gene	gene with protein product	"""kinetochore null 3 homolog (C. elegans)"""	609175	"""chromosome 20 open reading frame 172"", ""DSN1, MIND kinetochore complex component, homolog (S. cerevisiae)"""	C20orf172		16585270, 20819937	Standard	NM_001145315		Approved	dJ469A13.2, MIS13, KNL3, hKNL-3	uc002xfz.3	Q9H410	OTTHUMG00000032396	ENST00000426836.1:c.222_236delGTCGAAGTCCCTTCA	20.37:g.35399395_35399409delTGAAGGGACTTCGAC	ENSP00000389810:p.Gln74_Leu78del					DSN1_ENST00000373734.4_Intron|DSN1_ENST00000373740.3_Intron|DSN1_ENST00000473615.1_Intron|DSN1_ENST00000373745.3_In_Frame_Del_p.QSKSLH74del|DSN1_ENST00000373750.4_In_Frame_Del_p.QSKSLH74del|DSN1_ENST00000448110.1_In_Frame_Del_p.QSKSLH58del	p.QSKSLH74del	NM_001145316.1	NP_001138788.1	Q9H410	DSN1_HUMAN			3	594_608	-		Myeloproliferative disorder(115;0.00874)	74					B4DWT2|E1P5U9|Q5JW55|Q5JW56|Q9H8P4	In_Frame_Del	DEL	ENST00000426836.1	37	c.222_236delGTCGAAGTCCCTTCA	CCDS13286.1																																																																																				0.498	DSN1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079043.2	NM_024918		45	141						45	141	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11071214	11071215	+	RNA	INS	-	-	C	rs113940337|rs10154153	byFrequency	TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr21:11071214_11071215insC	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		gcagaccaattagggcttcagg	0.406																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11071214_11071215insC	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11071214_11071215insC												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	INS	ENST00000470054.1	37																																																																																						0.406	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		2	4						2	4	---	---	---	---
FANCB	2187	broad.mit.edu	37	X	14862842	14862843	+	Frame_Shift_Ins	INS	-	-	A			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chrX:14862842_14862843insA	ENST00000324138.3	-	8	2100_2101	c.1947_1948insT	c.(1945-1950)tttgcafs	p.A650fs	FANCB_ENST00000398334.1_Frame_Shift_Ins_p.A650fs	NM_152633.2	NP_689846.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	650					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					GCAAGAAGTGCAAAAAGATCTT	0.347								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000398334.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1945-1950)ttcactfs	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group B																																				SO:0001589	frameshift_variant	2187	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm		g.chrX:14862842_14862843insA	AK091383	CCDS14161.1	Xp22.2	2014-09-17			ENSG00000181544	ENSG00000181544		"""Fanconi anemia, complementation groups"""	3583	protein-coding gene	gene with protein product		300515				9382107, 15502827	Standard	NM_152633		Approved	FAB, FLJ34064, FAAP95	uc004cwh.1	Q8NB91	OTTHUMG00000021168	ENST00000324138.3:c.1948dupT	X.37:g.14862847_14862847dupA	ENSP00000326819:p.Ala650fs					FANCB_ENST00000324138.3_Frame_Shift_Ins_p.T650fs	p.T650fs	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN			9	2214_2215	-	Hepatocellular(33;0.183)		650					B2RMZ4|Q7Z2U2|Q86XG1	Frame_Shift_Ins	INS	ENST00000324138.3	37	c.1947_1948insT	CCDS14161.1																																																																																				0.347	FANCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055835.1	NM_152633		16	87						16	87	---	---	---	---
USP9X	8239	broad.mit.edu	37	X	41055894	41055895	+	Frame_Shift_Ins	INS	-	-	A			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chrX:41055894_41055895insA	ENST00000324545.8	+	28	4769_4770	c.4136_4137insA	c.(4135-4140)ttaagafs	p.R1380fs	USP9X_ENST00000378308.2_Frame_Shift_Ins_p.R1380fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1380					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TTTACTCTTTTAAGACACCTTC	0.347																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(4135-4137)tagfs		ubiquitin specific peptidase 9, X-linked																																				SO:0001589	frameshift_variant	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41055894_41055895insA	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.4138dupA	X.37:g.41055896_41055896dupA	ENSP00000316357:p.Arg1380fs					USP9X_ENST00000378308.2_Frame_Shift_Ins_p.*1379fs	p.*1379fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			28	4769_4770	+			1379					O75550|Q8WWT3|Q8WX12	Frame_Shift_Ins	INS	ENST00000324545.8	37	c.4136_4137insA	CCDS43930.1																																																																																				0.347	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		14	42						14	42	---	---	---	---
