#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
MSLNL	401827	broad.mit.edu	37	16	830799	830799	+	Intron	SNP	T	T	G			TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr16:830799T>G	ENST00000442466.1	-	2	37				MSLNL_ENST00000293892.3_Missense_Mutation_p.T68P			Q96KJ4	MSLNL_HUMAN	mesothelin-like						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						TGTGCACGGGTAGGTGACAGC	0.592																																						ENST00000293892.3																			0				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						c.(202-204)Acc>Ccc		mesothelin-like							143.0	138.0	140.0					16																	830799		2127	4240	6367	SO:0001627	intron_variant	401827				cell adhesion	integral to membrane		g.chr16:830799T>G			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 37"""	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.38-637A>C	16.37:g.830799T>G						MSLNL_ENST00000442466.1_Intron	p.T68P			Q96KJ4	MSLNL_HUMAN			3	201	-			0						Missense_Mutation	SNP	ENST00000442466.1	37	c.202A>C		.	.	.	.	.	.	.	.	.	.	-	0.050	-1.254173	0.01457	.	.	ENSG00000162006	ENST00000293892	T	0.23950	1.88	1.06	-2.13	0.07144	.	.	.	.	.	T	0.16854	0.0405	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.15065	-1.0450	5	.	.	.	.	5.6142	0.17422	0.0:0.2906:0.5047:0.2047	.	.	.	.	P	68	ENSP00000293892:T68P	.	T	-	1	0	MSLNL	770800	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-5.354000	0.00129	-3.380000	0.00175	-1.687000	0.00730	ACC		0.592	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001025190		5	237	0	0	0	1	0	5	237				
LMOD2	442721	broad.mit.edu	37	7	123302544	123302544	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr7:123302544C>T	ENST00000458573.2	+	2	1061	c.904C>T	c.(904-906)Cgt>Tgt	p.R302C	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	302						cytoskeleton (GO:0005856)											CACGGAGCTGCGTTTCCATAA	0.537																																						ENST00000458573.2																			0											c.(904-906)Cgt>Tgt		leiomodin 2 (cardiac)							93.0	91.0	92.0					7																	123302544		2147	4257	6404	SO:0001583	missense	442721					cytoskeleton	actin binding|tropomyosin binding	g.chr7:123302544C>T	AC006333	CCDS47693.1	7q31.32	2008-08-08			ENSG00000170807	ENSG00000170807			6648	protein-coding gene	gene with protein product		608006					Standard	NM_207163		Approved		uc003vky.2	Q6P5Q4	OTTHUMG00000157149	ENST00000458573.2:c.904C>T	7.37:g.123302544C>T	ENSP00000411932:p.Arg302Cys					LMOD2_ENST00000456238.2_Intron	p.R302C	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN			2	1061	+			302					A4D0W9|A4D0Y2|Q8WVJ8	Missense_Mutation	SNP	ENST00000458573.2	37	c.904C>T	CCDS47693.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.035144	0.75617	.	.	ENSG00000170807	ENST00000458573;ENST00000444702;ENST00000332074	D	0.93189	-3.18	5.35	5.35	0.76521	.	.	.	.	.	D	0.95313	0.8479	L	0.54908	1.71	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.95264	0.8371	9	0.87932	D	0	-9.4882	13.0109	0.58731	0.2814:0.7186:0.0:0.0	.	302	Q6P5Q4	LMOD2_HUMAN	C	302;262;273	ENSP00000411932:R302C	ENSP00000405123:R273C	R	+	1	0	LMOD2	123089780	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.007000	0.49536	2.648000	0.89879	0.591000	0.81541	CGT		0.537	LMOD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348525.1			5	147	0	0	0	1	0	5	147				
PDE2A	5138	broad.mit.edu	37	11	72316192	72316192	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr11:72316192C>T	ENST00000334456.5	-	4	558	c.313G>A	c.(313-315)Ggg>Agg	p.G105R	PDE2A_ENST00000418754.2_Intron|PDE2A_ENST00000544570.1_Missense_Mutation_p.G98R|PDE2A_ENST00000540345.1_Missense_Mutation_p.G96R|PDE2A_ENST00000540380.1_5'UTR|PDE2A_ENST00000444035.2_Missense_Mutation_p.G96R|PDE2A_ENST00000376450.3_Missense_Mutation_p.G98R	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	105					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	CGGACTTTCCCCTCCTGGGGC	0.572																																						ENST00000334456.5																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36						c.(313-315)Ggg>Agg		phosphodiesterase 2A, cGMP-stimulated	Sildenafil(DB00203)|Sulindac(DB00605)						74.0	69.0	70.0					11																	72316192		2200	4293	6493	SO:0001583	missense	5138				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr11:72316192C>T	U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"""Phosphodiesterases"""	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.313G>A	11.37:g.72316192C>T	ENSP00000334910:p.Gly105Arg					PDE2A_ENST00000376450.3_Missense_Mutation_p.G98R|PDE2A_ENST00000540380.1_5'UTR|PDE2A_ENST00000540345.1_Missense_Mutation_p.G96R|PDE2A_ENST00000418754.2_Intron|PDE2A_ENST00000444035.2_Missense_Mutation_p.G96R|PDE2A_ENST00000544570.1_Missense_Mutation_p.G98R	p.G105R	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		4	558	-			105					B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Missense_Mutation	SNP	ENST00000334456.5	37	c.313G>A	CCDS8216.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.305446	0.81247	.	.	ENSG00000186642	ENST00000334456;ENST00000376450;ENST00000444035;ENST00000429363;ENST00000544570;ENST00000540345;ENST00000538749;ENST00000542969	T;T;T;T;T;T	0.78126	-1.15;-0.69;-1.15;-1.15;-1.15;-1.15	5.4	5.4	0.78164	.	0.228785	0.35805	N	0.002972	D	0.82337	0.5015	L	0.32530	0.975	0.35767	D	0.820606	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.996;0.996;1.0;0.996;0.996	D	0.86955	0.2088	10	0.87932	D	0	.	14.6799	0.69009	0.0:1.0:0.0:0.0	.	105;96;98;105;98	O00408;E9PGI1;F6W5Z0;B2R646;Q6ZMR1	PDE2A_HUMAN;.;.;.;.	R	105;98;96;174;98;96;84;84	ENSP00000334910:G105R;ENSP00000365633:G98R;ENSP00000411657:G96R;ENSP00000442256:G98R;ENSP00000446399:G96R;ENSP00000439683:G84R	ENSP00000334910:G105R	G	-	1	0	PDE2A	71993840	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.841000	0.62824	2.537000	0.85549	0.561000	0.74099	GGG		0.572	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219839.2	NM_002599		23	46	0	0	0	1	0	23	46				
EXPH5	23086	broad.mit.edu	37	11	108409780	108409780	+	Silent	SNP	A	A	G			TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr11:108409780A>G	ENST00000265843.4	-	3	524	c.414T>C	c.(412-414)acT>acC	p.T138T	EXPH5_ENST00000428840.1_Silent_p.T62T|EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000525344.1_Silent_p.T131T|EXPH5_ENST00000443411.1_5'Flank	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	138					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GAAGCTTTGAAGTCTCCTTTC	0.443																																						ENST00000265843.4																			0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91						c.(412-414)acT>acC		exophilin 5							142.0	138.0	140.0					11																	108409780		2201	4298	6499	SO:0001819	synonymous_variant	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108409780A>G		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.414T>C	11.37:g.108409780A>G						EXPH5_ENST00000525344.1_Silent_p.T131T|EXPH5_ENST00000428840.1_Silent_p.T62T	p.T138T	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	3	524	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	138					Q2KHM1|Q9Y4D6	Silent	SNP	ENST00000265843.4	37	c.414T>C	CCDS8341.1																																																																																				0.443	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		84	119	0	0	0	1	0	84	119				
ZFYVE26	23503	broad.mit.edu	37	14	68274236	68274236	+	Silent	SNP	C	C	T			TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr14:68274236C>T	ENST00000347230.4	-	5	903	c.765G>A	c.(763-765)cgG>cgA	p.R255R	ZFYVE26_ENST00000555452.1_Silent_p.R255R	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	255					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GCCGCTCCTCCCGCAGGGGAC	0.622																																						ENST00000347230.4																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94						c.(763-765)cgG>cgA		zinc finger, FYVE domain containing 26							32.0	34.0	33.0					14																	68274236		2203	4300	6503	SO:0001819	synonymous_variant	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68274236C>T	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.765G>A	14.37:g.68274236C>T						ZFYVE26_ENST00000555452.1_Silent_p.R255R	p.R255R	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	5	903	-			255					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Silent	SNP	ENST00000347230.4	37	c.765G>A	CCDS9788.1																																																																																				0.622	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		33	42	0	0	0	1	0	33	42				
PDS5A	23244	broad.mit.edu	37	4	39911877	39911877	+	Silent	SNP	C	C	T	rs187463902	byFrequency	TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr4:39911877C>T	ENST00000303538.8	-	10	1613	c.1074G>A	c.(1072-1074)gcG>gcA	p.A358A	PDS5A_ENST00000503396.1_Silent_p.A358A	NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)											breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						TGAGATCCTTCGCTAAATCTG	0.343													C|||	15	0.00299521	0.0113	0.0	5008	,	,		19215	0.0		0.0	False		,,,				2504	0.0					ENST00000303538.8																			0				breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						c.(1072-1074)gcG>gcA		PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)		C	,	17,3715		0,17,1849	78.0	75.0	76.0		1074,1074	2.5	1.0	4		76	0,8208		0,0,4104	no	coding-synonymous,coding-synonymous	PDS5A	NM_001100399.1,NM_001100400.1	,	0,17,5953	TT,TC,CC		0.0,0.4555,0.1424	,	358/1338,358/601	39911877	17,11923	1866	4104	5970	SO:0001819	synonymous_variant	23244				cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	g.chr4:39911877C>T	AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.1074G>A	4.37:g.39911877C>T						PDS5A_ENST00000503396.1_Silent_p.A358A	p.A358A	NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN			10	1613	-			358						Silent	SNP	ENST00000303538.8	37	c.1074G>A	CCDS47045.1																																																																																				0.343	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200		3	9	0	0	0	1	0	3	9				
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328		TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51.0	56.0	55.0					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		5	114	0	0	0	1	0	5	114				
TSSC2	650368	broad.mit.edu	37	11	3424149	3424149	+	RNA	SNP	C	C	T	rs112841660	byFrequency	TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr11:3424149C>T	ENST00000529482.1	+	0	808									tumor suppressing subtransferable candidate 2 pseudogene																		TCATAGAGGACGAAGACTTCT	0.562													N|||	17	0.00339457	0.0113	0.0029	5008	,	,		17237	0.0		0.0	False		,,,				2504	0.0					ENST00000529482.1																			0																																																			0							g.chr11:3424149C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3424149C>T														0	808	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.562	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			3	46	0	0	0	1	0	3	46				
PGAP1	80055	broad.mit.edu	37	2	197791237	197791237	+	Missense_Mutation	SNP	T	T	C	rs149238260		TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr2:197791237T>C	ENST00000354764.4	-	1	218	c.104A>G	c.(103-105)aAt>aGt	p.N35S	PGAP1_ENST00000485830.1_Intron|PGAP1_ENST00000409188.1_Intron|PGAP1_ENST00000409475.1_Missense_Mutation_p.N35S	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	35					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						ACTGCACTTATTCTCCTCGAA	0.522																																						ENST00000354764.3																			0				breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						c.(103-105)aAt>aGt		post-GPI attachment to proteins 1		T	SER/ASN	4,4402	8.1+/-20.4	0,4,2199	206.0	227.0	220.0		104	4.2	1.0	2	dbSNP_134	220	0,8600		0,0,4300	no	missense	PGAP1	NM_024989.3	46	0,4,6499	CC,CT,TT		0.0,0.0908,0.0308	benign	35/923	197791237	4,13002	2203	4300	6503	SO:0001583	missense	80055				attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity	g.chr2:197791237T>C		CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"""GPI inositol-deacylase"""	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.104A>G	2.37:g.197791237T>C	ENSP00000346809:p.Asn35Ser					PGAP1_ENST00000409475.1_Missense_Mutation_p.N35S|PGAP1_ENST00000485830.1_Intron|PGAP1_ENST00000409188.1_Intron	p.N35S	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN			1	218	-			35					Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Missense_Mutation	SNP	ENST00000354764.4	37	c.104A>G	CCDS2318.1	.	.	.	.	.	.	.	.	.	.	T	18.00	3.525854	0.64860	9.08E-4	0.0	ENSG00000197121	ENST00000422382;ENST00000354764;ENST00000409475;ENST00000374738	.	.	.	4.16	4.16	0.48862	.	0.000000	0.85682	D	0.000000	T	0.64000	0.2559	L	0.39397	1.21	0.80722	D	1	B;D	0.63880	0.266;0.993	B;D	0.68192	0.115;0.956	T	0.62996	-0.6735	9	0.41790	T	0.15	-10.7093	10.6745	0.45778	0.0:0.0:0.0:1.0	.	35;35	Q75T13-3;Q75T13	.;PGAP1_HUMAN	S	35	.	ENSP00000346809:N35S	N	-	2	0	PGAP1	197499482	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.413000	0.73308	1.752000	0.51891	0.260000	0.18958	AAT		0.522	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256103.5	NM_024989		6	460	0	0	0	1	0	6	460				
PPIC	5480	broad.mit.edu	37	5	122361500	122361500	+	Silent	SNP	A	A	G			TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr5:122361500A>G	ENST00000306442.4	-	4	604	c.489T>C	c.(487-489)ttT>ttC	p.F163F		NM_000943.4	NP_000934.1	P45877	PPIC_HUMAN	peptidylprolyl isomerase C (cyclophilin C)	163	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				protein folding (GO:0006457)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	6		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505)	L-Proline(DB00172)	TGACTTTTCCAAACACCACAT	0.403																																					Ovarian(99;690 1502 20765 45543 49568)	ENST00000306442.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	6						c.(487-489)ttT>ttC		peptidylprolyl isomerase C (cyclophilin C)	L-Proline(DB00172)						70.0	62.0	65.0					5																	122361500		2203	4300	6503	SO:0001819	synonymous_variant	5480				protein folding|signal transduction	cytoplasm	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding	g.chr5:122361500A>G	S71018	CCDS4133.1	5q23.2	2008-02-05			ENSG00000168938	ENSG00000168938	5.2.1.8		9256	protein-coding gene	gene with protein product		123842				1383094, 8031755	Standard	NM_000943		Approved	CYPC	uc003kth.3	P45877	OTTHUMG00000128921	ENST00000306442.4:c.489T>C	5.37:g.122361500A>G							p.F163F	NM_000943.4	NP_000934.1	P45877	PPIC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505)	4	604	-		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	163			PPIase cyclophilin-type.		A4LBB5	Silent	SNP	ENST00000306442.4	37	c.489T>C	CCDS4133.1																																																																																				0.403	PPIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250898.2	NM_000943		60	73	0	0	0	1	0	60	73				
DNM1L	10059	broad.mit.edu	37	12	32884346	32884346	+	Silent	SNP	G	G	A			TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr12:32884346G>A	ENST00000549701.1	+	11	1331	c.1257G>A	c.(1255-1257)cgG>cgA	p.R419R	DNM1L_ENST00000414834.2_Silent_p.R216R|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000553257.1_Silent_p.R432R|DNM1L_ENST00000381000.4_Silent_p.R432R|DNM1L_ENST00000547312.1_Silent_p.R419R|DNM1L_ENST00000358214.5_Silent_p.R432R|DNM1L_ENST00000452533.2_Silent_p.R419R|DNM1L_ENST00000266481.6_Silent_p.R419R			O00429	DNM1L_HUMAN	dynamin 1-like	419	Middle domain.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dynamin polymerization involved in mitochondrial fission (GO:0003374)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|membrane fission involved in mitochondrial fission (GO:0090149)|membrane fusion (GO:0061025)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion morphogenesis (GO:0070584)|necroptotic process (GO:0070266)|peroxisome fission (GO:0016559)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homotetramerization (GO:0051289)|protein localization to mitochondrion (GO:0070585)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|regulation of protein oligomerization (GO:0032459)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|protein complex (GO:0043234)|synapse (GO:0045202)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TGGTGAAGCGGCAAATCAAAC	0.418																																						ENST00000452533.2																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23						c.(1255-1257)cgG>cgA		dynamin 1-like							111.0	115.0	113.0					12																	32884346		2203	4300	6503	SO:0001819	synonymous_variant	10059				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	g.chr12:32884346G>A	AF000430	CCDS8728.1, CCDS8729.1, CCDS8730.1, CCDS61095.1, CCDS61096.1, CCDS61098.1, CCDS61099.1	12p11.21	2012-10-02			ENSG00000087470	ENSG00000087470			2973	protein-coding gene	gene with protein product		603850				9348079, 9731200	Standard	NM_012062		Approved	DRP1, DVLP, HDYNIV, DYMPLE, VPS1	uc001rld.2	O00429	OTTHUMG00000169451	ENST00000549701.1:c.1257G>A	12.37:g.32884346G>A						DNM1L_ENST00000547312.1_Silent_p.R419R|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000414834.2_Silent_p.R216R|DNM1L_ENST00000549701.1_Silent_p.R419R|DNM1L_ENST00000381000.4_Silent_p.R432R|DNM1L_ENST00000553257.1_Silent_p.R432R|DNM1L_ENST00000266481.6_Silent_p.R419R|DNM1L_ENST00000358214.5_Silent_p.R432R	p.R419R	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN			11	1421	+	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		419			Middle domain.		A8K4X9|B4DGC9|B4DSU8|J3KPI2|O14541|O60709|Q59GN9|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	Silent	SNP	ENST00000549701.1	37	c.1257G>A	CCDS8729.1																																																																																				0.418	DNM1L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404124.1	NM_012062		4	200	0	0	0	1	0	4	200				
HEATR5B	54497	broad.mit.edu	37	2	37229591	37229591	+	Silent	SNP	C	C	T			TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr2:37229591C>T	ENST00000233099.5	-	32	5270	c.5175G>A	c.(5173-5175)cgG>cgA	p.R1725R	HEATR5B_ENST00000354531.2_Intron	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1725						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GTGGCATATGCCGTACTAAAA	0.478																																						ENST00000233099.5																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77						c.(5173-5175)cgG>cgA		HEAT repeat containing 5B							175.0	155.0	161.0					2																	37229591		2203	4300	6503	SO:0001819	synonymous_variant	54497						binding	g.chr2:37229591C>T	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.5175G>A	2.37:g.37229591C>T						HEATR5B_ENST00000354531.2_Intron	p.R1725R	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN			32	5270	-		all_hematologic(82;0.21)	1725					B5MDU8|Q7Z3B2|Q9NVL7	Silent	SNP	ENST00000233099.5	37	c.5175G>A	CCDS33181.1																																																																																				0.478	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		5	232	0	0	0	1	0	5	232				
PIKFYVE	200576	broad.mit.edu	37	2	209165737	209165737	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr2:209165737A>G	ENST00000264380.4	+	9	1285	c.1127A>G	c.(1126-1128)tAc>tGc	p.Y376C	PIKFYVE_ENST00000308862.6_Missense_Mutation_p.Y290C|PIKFYVE_ENST00000392202.3_Missense_Mutation_p.Y279C|PIKFYVE_ENST00000407449.1_Missense_Mutation_p.Y376C	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	376	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GATCACCGCTACTGGTTGAGA	0.438																																						ENST00000264380.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						c.(1126-1128)tAc>tGc		phosphoinositide kinase, FYVE finger containing							139.0	121.0	127.0					2																	209165737		2203	4300	6503	SO:0001583	missense	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209165737A>G	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.1127A>G	2.37:g.209165737A>G	ENSP00000264380:p.Tyr376Cys					PIKFYVE_ENST00000392202.3_Missense_Mutation_p.Y279C|PIKFYVE_ENST00000407449.1_Missense_Mutation_p.Y376C|PIKFYVE_ENST00000308862.6_Missense_Mutation_p.Y290C	p.Y376C	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN			9	1285	+			376			DEP.		Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	c.1127A>G	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.562330	0.86335	.	.	ENSG00000115020	ENST00000392202;ENST00000264380;ENST00000392200;ENST00000407449;ENST00000308862;ENST00000452564	T;T;T;T;T	0.14766	2.48;2.48;2.48;2.48;2.48	5.54	5.54	0.83059	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.64402	D	0.000003	T	0.33962	0.0881	L	0.58510	1.815	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.91635	0.992;0.999;0.998;0.998;0.992	T	0.01904	-1.1250	10	0.44086	T	0.13	-12.9992	15.3378	0.74273	1.0:0.0:0.0:0.0	.	376;376;290;376;279	Q9Y2I7;E9PDH4;Q9Y2I7-3;Q08AR7;Q9Y2I7-2	FYV1_HUMAN;.;.;.;.	C	279;376;8;376;290;376	ENSP00000376038:Y279C;ENSP00000264380:Y376C;ENSP00000384356:Y376C;ENSP00000308715:Y290C;ENSP00000405736:Y376C	ENSP00000264380:Y376C	Y	+	2	0	PIKFYVE	208873982	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.309000	0.96252	2.086000	0.62901	0.460000	0.39030	TAC		0.438	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		64	86	0	0	0	1	0	64	86				
TMX4	56255	broad.mit.edu	37	20	7982176	7982176	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr20:7982176C>T	ENST00000246024.2	-	3	520	c.305G>A	c.(304-306)cGc>cAc	p.R102H	TMX4_ENST00000530935.1_5'UTR	NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	102	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						GACAAAGAAGCGGCCACTCAA	0.323																																						ENST00000246024.2																			0				endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						c.(304-306)cGc>cAc		thioredoxin-related transmembrane protein 4							65.0	62.0	63.0					20																	7982176		2203	4300	6503	SO:0001583	missense	56255				cell redox homeostasis|electron transport chain|transport	integral to membrane		g.chr20:7982176C>T		CCDS13101.1	20p12	2011-10-19	2009-02-23	2009-02-23	ENSG00000125827	ENSG00000125827		"""Protein disulfide isomerases"""	25237	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 14"""		"""thioredoxin domain containing 13"""	TXNDC13			Standard	NM_021156		Approved	DJ971N18.2, KIAA1162, PDIA14	uc002wmx.1	Q9H1E5	OTTHUMG00000031843	ENST00000246024.2:c.305G>A	20.37:g.7982176C>T	ENSP00000246024:p.Arg102His					TMX4_ENST00000530935.1_5'UTR	p.R102H	NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN			3	520	-			102			Thioredoxin.		Q8N4P7|Q8NCC1|Q9UJA1|Q9ULQ8	Missense_Mutation	SNP	ENST00000246024.2	37	c.305G>A	CCDS13101.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.426373	0.83667	.	.	ENSG00000125827	ENST00000246024	T	0.03441	3.93	4.95	4.95	0.65309	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.129503	0.50627	D	0.000107	T	0.21801	0.0525	M	0.86178	2.8	0.58432	D	0.999999	D	0.89917	1.0	D	0.81914	0.995	T	0.01143	-1.1438	10	0.87932	D	0	-8.6044	17.3457	0.87309	0.0:1.0:0.0:0.0	.	102	Q9H1E5	TMX4_HUMAN	H	102	ENSP00000246024:R102H	ENSP00000246024:R102H	R	-	2	0	TMX4	7930176	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.311000	0.65786	2.466000	0.83321	0.455000	0.32223	CGC		0.323	TMX4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000077928.2	NM_021156		11	21	0	0	0	1	0	11	21				
KAT6B	23522	broad.mit.edu	37	10	76784828	76784828	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr10:76784828A>G	ENST00000287239.4	+	17	3974	c.3485A>G	c.(3484-3486)aAc>aGc	p.N1162S	KAT6B_ENST00000372714.1_Missense_Mutation_p.N870S|KAT6B_ENST00000372711.1_Missense_Mutation_p.N979S|KAT6B_ENST00000372725.1_Missense_Mutation_p.N870S|KAT6B_ENST00000372724.1_Missense_Mutation_p.N870S|KAT6B_ENST00000490365.1_3'UTR|RP11-77G23.5_ENST00000436608.1_RNA|RP11-77G23.2_ENST00000413431.1_RNA	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1162					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										CCCTTTGACAACTCAGATGAA	0.483																																						ENST00000287239.4																			0											c.(3484-3486)aAc>aGc		K(lysine) acetyltransferase 6B							98.0	89.0	92.0					10																	76784828		2203	4300	6503	SO:0001583	missense	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76784828A>G	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.3485A>G	10.37:g.76784828A>G	ENSP00000287239:p.Asn1162Ser					KAT6B_ENST00000372714.1_Missense_Mutation_p.N870S|KAT6B_ENST00000372711.1_Missense_Mutation_p.N979S|KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372725.1_Missense_Mutation_p.N870S|RP11-77G23.2_ENST00000413431.1_RNA|KAT6B_ENST00000372724.1_Missense_Mutation_p.N870S	p.N1162S	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN			17	3974	+			1162					O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	c.3485A>G	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	A	17.24	3.340284	0.60963	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;T;T;T	0.78246	-1.15;-1.15;-1.16;-1.15;-1.15	5.8	5.8	0.92144	.	0.000000	0.49916	D	0.000124	T	0.76779	0.4035	L	0.46157	1.445	0.58432	D	0.999999	P;P;B	0.49559	0.925;0.592;0.051	P;B;B	0.46339	0.513;0.12;0.03	T	0.77726	-0.2480	10	0.45353	T	0.12	-8.5806	16.1365	0.81491	1.0:0.0:0.0:0.0	.	979;870;1162	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	S	870;870;1162;870;979	ENSP00000361810:N870S;ENSP00000361809:N870S;ENSP00000287239:N1162S;ENSP00000361799:N870S;ENSP00000361796:N979S	ENSP00000287239:N1162S	N	+	2	0	KAT6B	76454834	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.117000	0.77129	2.212000	0.71576	0.533000	0.62120	AAC		0.483	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		46	36	0	0	0	1	0	46	36				
CIC	23152	broad.mit.edu	37	19	42791718	42791718	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr19:42791718C>T	ENST00000575354.2	+	5	644	c.604C>T	c.(604-606)Cgg>Tgg	p.R202W	CIC_ENST00000572681.2_Missense_Mutation_p.R1111W|CIC_ENST00000160740.3_Missense_Mutation_p.R202W	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	202					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R202W(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCACATCCGGCGGCCCATGAA	0.622			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		1	Substitution - Missense(1)	p.R202W(1)	central_nervous_system(1)	autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(3331-3333)Cgg>Tgg		capicua transcriptional repressor							63.0	67.0	66.0					19																	42791718		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791718C>T	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.604C>T	19.37:g.42791718C>T	ENSP00000458663:p.Arg202Trp					CIC_ENST00000160740.3_Missense_Mutation_p.R202W|CIC_ENST00000575354.2_Missense_Mutation_p.R202W	p.R1111W			Q96RK0	CIC_HUMAN			6	3399	+		Prostate(69;0.00682)	202			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3331C>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.590136	0.46214	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	3.33	0.38152	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	D	0.88273	0.6392	H	0.99238	4.48	0.54753	D	0.999983	D	0.89917	1.0	D	0.91635	0.999	D	0.90719	0.4633	8	0.87932	D	0	-13.7219	11.1765	0.48603	0.1853:0.8147:0.0:0.0	.	202	Q96RK0	CIC_HUMAN	W	202	.	ENSP00000160740:R202W	R	+	1	2	CIC	47483558	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.703000	0.37846	1.030000	0.39839	0.555000	0.69702	CGG		0.622	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			39	28	0	0	0	1	0	39	28				
ATP8B1	5205	broad.mit.edu	37	18	55399014	55399014	+	Missense_Mutation	SNP	G	G	A	rs150268416		TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr18:55399014G>A	ENST00000283684.4	-	1	25	c.26C>T	c.(25-27)aCg>aTg	p.T9M	RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000536015.1_Missense_Mutation_p.T9M|RP11-35G9.3_ENST00000599199.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	9					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				GTCAAATGTCGTTTCTGAGTC	0.428																																						ENST00000536015.1																			0				breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53						c.(25-27)aCg>aTg		ATPase, aminophospholipid transporter, class I, type 8B, member 1		G	MET/THR	2,4404	4.2+/-10.8	0,2,2201	303.0	297.0	299.0		26	5.0	0.7	18	dbSNP_134	299	0,8600		0,0,4300	no	missense	ATP8B1	NM_005603.4	81	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	9/1252	55399014	2,13004	2203	4300	6503	SO:0001583	missense	5205				ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:55399014G>A	AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"""ATPases / P-type"""	3706	protein-coding gene	gene with protein product		602397	"""ATPase, Class I, type 8B, member 1"", ""ATPase, class I, type 8B, member 1"""	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.26C>T	18.37:g.55399014G>A	ENSP00000283684:p.Thr9Met					ATP8B1_ENST00000283684.4_Missense_Mutation_p.T9M|RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA	p.T9M	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN			2	145	-		Colorectal(73;0.229)	9					Q9BTP8	Missense_Mutation	SNP	ENST00000283684.4	37	c.26C>T	CCDS11965.1	.	.	.	.	.	.	.	.	.	.	G	19.25	3.790480	0.70337	4.54E-4	0.0	ENSG00000081923	ENST00000283684;ENST00000536015	T;T	0.30448	1.53;1.53	5.04	5.04	0.67666	.	0.566313	0.19604	N	0.110312	T	0.40040	0.1101	L	0.36672	1.1	0.40317	D	0.978784	D	0.76494	0.999	P	0.53146	0.719	T	0.35599	-0.9782	10	0.72032	D	0.01	.	18.3446	0.90317	0.0:0.0:1.0:0.0	.	9	O43520	AT8B1_HUMAN	M	9	ENSP00000283684:T9M;ENSP00000445359:T9M	ENSP00000283684:T9M	T	-	2	0	ATP8B1	53550012	1.000000	0.71417	0.679000	0.29978	0.774000	0.43823	6.553000	0.73918	2.501000	0.84356	0.655000	0.94253	ACG		0.428	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1	NM_005603		6	329	0	0	0	1	0	6	329				
PGAP1	80055	broad.mit.edu	37	2	197791240	197791240	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr2:197791240T>C	ENST00000354764.4	-	1	215	c.101A>G	c.(100-102)gAg>gGg	p.E34G	PGAP1_ENST00000485830.1_Intron|PGAP1_ENST00000409188.1_Intron|PGAP1_ENST00000409475.1_Missense_Mutation_p.E34G	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	34					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						GCACTTATTCTCCTCGAAGCC	0.522																																						ENST00000354764.3																			0				breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						c.(100-102)gAg>gGg		post-GPI attachment to proteins 1							205.0	226.0	219.0					2																	197791240		2203	4300	6503	SO:0001583	missense	80055				attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity	g.chr2:197791240T>C		CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"""GPI inositol-deacylase"""	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.101A>G	2.37:g.197791240T>C	ENSP00000346809:p.Glu34Gly					PGAP1_ENST00000409475.1_Missense_Mutation_p.E34G|PGAP1_ENST00000485830.1_Intron|PGAP1_ENST00000409188.1_Intron	p.E34G	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN			1	215	-			34					Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Missense_Mutation	SNP	ENST00000354764.4	37	c.101A>G	CCDS2318.1	.	.	.	.	.	.	.	.	.	.	T	18.26	3.584480	0.65992	.	.	ENSG00000197121	ENST00000422382;ENST00000354764;ENST00000409475;ENST00000374738	.	.	.	4.16	4.16	0.48862	.	0.000000	0.85682	D	0.000000	T	0.66858	0.2832	L	0.55990	1.75	0.80722	D	1	B;D	0.71674	0.449;0.998	B;D	0.72982	0.241;0.979	T	0.63274	-0.6674	9	0.25106	T	0.35	-9.9534	10.6745	0.45778	0.0:0.0:0.0:1.0	.	34;34	Q75T13-3;Q75T13	.;PGAP1_HUMAN	G	34	.	ENSP00000346809:E34G	E	-	2	0	PGAP1	197499485	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.413000	0.73308	1.752000	0.51891	0.260000	0.18958	GAG		0.522	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256103.5	NM_024989		6	462	0	0	0	1	0	6	462				
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000537089.1_3'UTR			O14520	AQP7_HUMAN	aquaporin 7	0					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632																																						ENST00000541274.1																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(379-381)agT>agA		aquaporin 7							36.0	43.0	41.0					9																	33385614		2199	4296	6495	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33385614A>T	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000541274.1:c.381T>A	9.37:g.33385614A>T	ENSP00000438860:p.Ser127Arg					AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR	p.S127R			O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	5	830	-			0					Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000541274.1	37	c.381T>A		.	.	.	.	.	.	.	.	.	.	a	7.886	0.731251	0.15507	.	.	ENSG00000165269	ENST00000541274	T	0.54479	0.57	3.27	-5.32	0.02722	.	.	.	.	.	T	0.32164	0.0820	.	.	.	0.09310	N	1	B	0.21905	0.062	B	0.16289	0.015	T	0.25710	-1.0124	8	0.87932	D	0	.	2.0158	0.03497	0.1768:0.1404:0.4062:0.2767	.	127	B7Z7F6	.	R	127	ENSP00000438860:S127R	ENSP00000438860:S127R	S	-	3	2	AQP7	33375614	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.696000	0.05104	-1.265000	0.02449	0.449000	0.29647	AGT		0.632	AQP7-204	KNOWN	basic	protein_coding	protein_coding		NM_001170		6	117	0	0	0	1	0	6	117				
GTF2IRD2P1	401375	broad.mit.edu	37	7	72663998	72663998	+	RNA	SNP	T	T	G			TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr7:72663998T>G	ENST00000425256.1	-	0	902									GTF2I repeat domain containing 2 pseudogene 1																		ATAGCCGGGGTCCTTGAATAC	0.488																																						ENST00000425256.1																			0																																																			0							g.chr7:72663998T>G	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72663998T>G								NR_002164.1						0	902	-									RNA	SNP	ENST00000425256.1	37																																																																																						0.488	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		4	109	0	0	0	1	0	4	109				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			60	81	0	0	0	1	0	60	81				
CLIP1	6249	broad.mit.edu	37	12	122817533	122817533	+	Splice_Site	SNP	C	C	T			TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr12:122817533C>T	ENST00000540338.1	-	14	2909		c.e14+1		CLIP1_ENST00000361654.4_Splice_Site|CLIP1_ENST00000537178.1_Splice_Site|CLIP1_ENST00000302528.7_Splice_Site|CLIP1_ENST00000358808.2_Splice_Site|CLIP1_ENST00000545889.1_Splice_Site			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1						microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		GTCACATATACCTTTCTTTCA	0.393																																						ENST00000358808.2																			0				NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.e14+1		CAP-GLY domain containing linker protein 1							166.0	138.0	148.0					12																	122817533		2203	4299	6502	SO:0001630	splice_region_variant	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122817533C>T		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.2867+1G>A	12.37:g.122817533C>T						CLIP1_ENST00000545889.1_Splice_Site|CLIP1_ENST00000540338.1_Splice_Site|CLIP1_ENST00000537178.1_Splice_Site|CLIP1_ENST00000361654.4_Splice_Site|CLIP1_ENST00000302528.7_Splice_Site		NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	14	2989	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)							A0AVD3|Q17RS4|Q29RG0	Splice_Site	SNP	ENST00000540338.1	37		CCDS58285.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.420698	0.83559	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000537178;ENST00000540338	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6753	0.95930	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CLIP1	121383486	1.000000	0.71417	0.999000	0.59377	0.784000	0.44337	7.240000	0.78192	2.648000	0.89879	0.563000	0.77884	.		0.393	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956	Intron	27	51	0	0	0	1	0	27	51				
ANKRD36C	400986	broad.mit.edu	37	2	96525717	96525718	+	Frame_Shift_Ins	INS	-	-	T	rs368489323|rs111957693|rs77057279		TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr2:96525717_96525718insT	ENST00000456556.1	-	61	3871_3872	c.3787_3788insA	c.(3787-3789)ctgfs	p.L1263fs	ANKRD36C_ENST00000419039.2_Frame_Shift_Ins_p.L290fs|ANKRD36C_ENST00000420871.2_Frame_Shift_Ins_p.L514fs			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	1263							ion channel inhibitor activity (GO:0008200)			breast(1)|endometrium(8)|kidney(5)|lung(4)	18						CTTATTTTTCAGTTTTCGAATT	0.282																																						ENST00000456556.1																			0				breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(3787-3789)gaafs		ankyrin repeat domain 36C																																				SO:0001589	frameshift_variant	400986							g.chr2:96525717_96525718insT	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.3787_3788insA	2.37:g.96525717_96525718insT	ENSP00000403302:p.Leu1263fs					ANKRD36C_ENST00000419039.2_Frame_Shift_Ins_p.E290fs|ANKRD36C_ENST00000420871.2_Frame_Shift_Ins_p.E514fs	p.E1263fs							61	3871_3872	-								C9JZ08|Q15694|Q53S06|Q658V2	Frame_Shift_Ins	INS	ENST00000456556.1	37	c.3787_3788insA																																																																																					0.282	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		4	7						4	7	---	---	---	---
ANKRD30A	91074	broad.mit.edu	37	10	37418878	37418881	+	Frame_Shift_Del	DEL	AGAC	AGAC	-			TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr10:37418878_37418881delAGAC	ENST00000602533.1	+	2	210_213	c.111_114delAGAC	c.(109-114)gtagacfs	p.VD37fs	ANKRD30A_ENST00000361713.1_Frame_Shift_Del_p.VD37fs|ANKRD30A_ENST00000374660.1_Frame_Shift_Del_p.VD37fs			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	93					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CATTTCTGGTAGACAGAAAGTGCC	0.456																																						ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(109-114)gtfs		ankyrin repeat domain 30A																																				SO:0001589	frameshift_variant	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37418878_37418881delAGAC	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.111_114delAGAC	10.37:g.37418878_37418881delAGAC	ENSP00000473551:p.Val37fs					ANKRD30A_ENST00000361713.1_Frame_Shift_Del_p.VD37fs|ANKRD30A_ENST00000602533.1_Frame_Shift_Del_p.VD37fs	p.VD37fs			Q9BXX3	AN30A_HUMAN			2	210_213	+			93					Q5W025	Frame_Shift_Del	DEL	ENST00000602533.1	37	c.111_114delAGAC																																																																																					0.456	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		24	59						24	59	---	---	---	---
VWCE	220001	broad.mit.edu	37	11	61049329	61049329	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr11:61049329delT	ENST00000335613.5	-	7	1102	c.716delA	c.(715-717)aacfs	p.N239fs		NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	239	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GCCCACGGTGTTGTGGCAGGA	0.627																																						ENST00000335613.5																			0				biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(715-717)acfs		von Willebrand factor C and EGF domains							115.0	92.0	100.0					11																	61049329		2203	4299	6502	SO:0001589	frameshift_variant	220001					extracellular region	calcium ion binding	g.chr11:61049329delT	AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.716delA	11.37:g.61049329delT	ENSP00000334186:p.Asn239fs						p.N239fs	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN			7	1102	-			239			EGF-like 4; calcium-binding (Potential).		A5PKV0|Q7Z7L6|Q86WK8	Frame_Shift_Del	DEL	ENST00000335613.5	37	c.716delA	CCDS8002.1																																																																																				0.627	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398811.1	NM_152718		52	102						52	102	---	---	---	---
