#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
MYOF	26509	broad.mit.edu	37	10	95191210	95191210	+	Silent	SNP	C	C	T			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr10:95191210C>T	ENST00000359263.4	-	4	299	c.300G>A	c.(298-300)ccG>ccA	p.P100P	MYOF_ENST00000371502.4_Silent_p.P100P|MYOF_ENST00000371488.3_Silent_p.P100P|MYOF_ENST00000371501.4_Silent_p.P100P|MYOF_ENST00000371489.1_Silent_p.P100P|MYOF_ENST00000358334.5_Silent_p.P100P	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	100					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TCAGCTTGTACGGCAGGGATC	0.468																																						ENST00000371501.4																			0				NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(298-300)ccG>ccA		myoferlin							91.0	88.0	89.0					10																	95191210		1957	4164	6121	SO:0001819	synonymous_variant	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95191210C>T	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.300G>A	10.37:g.95191210C>T			Somatic				MYOF_ENST00000371502.4_Silent_p.P100P|MYOF_ENST00000371488.3_Silent_p.P100P|MYOF_ENST00000358334.5_Silent_p.P100P|MYOF_ENST00000359263.4_Silent_p.P100P|MYOF_ENST00000371489.1_Silent_p.P100P	p.P100P			WXS	Illumina GAIIx	Phase_I	Q9NZM1	MYOF_HUMAN			4	422	-			100					B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Silent	SNP	ENST00000359263.4	37	c.300G>A	CCDS41551.1																																																																																				0.468	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		27	32	0	0	0	1	0	27	32				
DDX39B	7919	broad.mit.edu	37	6	31504459	31504459	+	Splice_Site	SNP	A	A	C			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr6:31504459A>C	ENST00000396172.1	-	5	1064	c.434T>G	c.(433-435)gTt>gGt	p.V145G	DDX39B_ENST00000417556.2_Splice_Site_p.V160G|SNORD117_ENST00000364915.1_RNA|DDX39B_ENST00000453105.2_Splice_Site_p.V98G|DDX39B_ENST00000458640.1_Splice_Site_p.V145G|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000449074.2_3'UTR|DDX39B_ENST00000415382.2_Splice_Site_p.V67G|DDX39B_ENST00000376177.2_Splice_Site_p.V145G	NM_004640.6	NP_004631.1	Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	145	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|RNA secondary structure unwinding (GO:0010501)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|transcription export complex (GO:0000346)	ATP binding (GO:0005524)|ATP-dependent protein binding (GO:0043008)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)|RNA-dependent ATPase activity (GO:0008186)|U4 snRNA binding (GO:0030621)|U6 snRNA binding (GO:0017070)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						AAAAACAGCAACCTGCCGAGC	0.498																																						ENST00000417556.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(478-480)gTt>gGt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B																																				SO:0001630	splice_region_variant	7919				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding	g.chr6:31504459A>C	Z37166	CCDS4697.1	6p21.33	2011-02-09	2011-02-08	2011-02-08	ENSG00000198563	ENSG00000198563		"""DEAD-boxes"""	13917	protein-coding gene	gene with protein product	"""U2AF65-associated protein 56"""	142560	"""HLA-B associated transcript 1"""	BAT1		7601445, 2813433	Standard	NM_004640		Approved	D6S81E, UAP56	uc003ntu.3	Q13838	OTTHUMG00000031165	ENST00000396172.1:c.433-1T>G	6.37:g.31504459A>C			Somatic				DDX39B_ENST00000458640.1_Splice_Site_p.V145G|DDX39B_ENST00000449074.2_3'UTR|DDX39B_ENST00000415382.2_Splice_Site_p.V67G|DDX39B_ENST00000453105.2_Splice_Site_p.V98G|DDX39B_ENST00000396172.1_Splice_Site_p.V145G|DDX39B_ENST00000376177.2_Splice_Site_p.V145G|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR	p.V160G			WXS	Illumina GAIIx	Phase_I	Q13838	DX39B_HUMAN			6	1109	-			145			Helicase ATP-binding.		B0S8C0|O43496|Q0EFA1|Q2L6F9|Q53GL9|Q5RJ64|Q5RJ66|Q5ST94|Q5STB4|Q5STB5|Q5STB7|Q5STB8|Q5STU4|Q5STU5|Q5STU6|Q5STU8|Q71V76	Splice_Site	SNP	ENST00000396172.1	37	c.479T>G	CCDS4697.1	.	.	.	.	.	.	.	.	.	.	A	29.1	4.979046	0.92982	.	.	ENSG00000198563	ENST00000376177;ENST00000458640;ENST00000396172;ENST00000417556;ENST00000415382;ENST00000431908;ENST00000427214;ENST00000453105;ENST00000428098;ENST00000419338;ENST00000456662;ENST00000428450;ENST00000449757	T;T;T;T;T;T;T;T;T;T;T;T;T	0.52754	0.65;3.23;3.23;3.23;3.23;3.23;0.65;2.21;0.65;0.65;2.21;0.65;0.65	5.22	5.22	0.72569	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.64402	D	0.000001	T	0.57888	0.2084	M	0.69358	2.11	0.80722	D	1	D;D;D;D;D;P	0.71674	0.998;0.994;0.996;0.98;0.976;0.933	D;P;D;P;D;P	0.73380	0.951;0.846;0.98;0.735;0.909;0.793	T	0.63791	-0.6557	10	0.72032	D	0.01	-17.934	13.3208	0.60432	1.0:0.0:0.0:0.0	.	67;98;67;165;145;145	B4DIZ8;B4DIJ6;B4DP52;Q59G92;Q13838;Q5STU3	.;.;.;.;DX39B_HUMAN;.	G	145;145;145;160;67;67;145;98;145;145;145;173;168	ENSP00000365347:V145G;ENSP00000416269:V145G;ENSP00000379475:V145G;ENSP00000412582:V160G;ENSP00000392669:V67G;ENSP00000408000:V67G;ENSP00000399371:V145G;ENSP00000400328:V98G;ENSP00000392672:V145G;ENSP00000410313:V145G;ENSP00000416350:V145G;ENSP00000405707:V173G;ENSP00000409426:V168G	ENSP00000365347:V145G	V	-	2	0	DDX39B	31612438	1.000000	0.71417	0.969000	0.41365	0.704000	0.40688	4.382000	0.59594	2.085000	0.62840	0.528000	0.53228	GTT		0.498	DDX39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259083.1	NM_004640	Missense_Mutation	9	40	0	0	0	1	0	9	40				
SLFN11	91607	broad.mit.edu	37	17	33679640	33679640	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr17:33679640C>T	ENST00000394566.1	-	7	2713	c.2441G>A	c.(2440-2442)aGc>aAc	p.S814N	SLFN11_ENST00000308377.4_Missense_Mutation_p.S814N	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	814					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TTTTGCGGTGCTGACAAGCAC	0.463																																						ENST00000394566.1																			0				autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50						c.(2440-2442)aGc>aAc		schlafen family member 11							126.0	111.0	116.0					17																	33679640		2203	4300	6503	SO:0001583	missense	91607					nucleus	ATP binding	g.chr17:33679640C>T	AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.2441G>A	17.37:g.33679640C>T	ENSP00000378067:p.Ser814Asn		Somatic				SLFN11_ENST00000308377.4_Missense_Mutation_p.S814N	p.S814N	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	WXS	Illumina GAIIx	Phase_I	Q7Z7L1	SLN11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	7	2713	-		Ovarian(249;0.17)	814					E1P643|Q8N3S8|Q8N762|Q8TEE0	Missense_Mutation	SNP	ENST00000394566.1	37	c.2441G>A	CCDS11294.1	.	.	.	.	.	.	.	.	.	.	c	14.50	2.555243	0.45487	.	.	ENSG00000172716	ENST00000308377;ENST00000394566	D;D	0.81908	-1.55;-1.55	4.0	2.99	0.34606	.	0.111999	0.40302	N	0.001126	T	0.76069	0.3936	M	0.66939	2.045	0.09310	N	0.999999	P	0.49862	0.929	B	0.40009	0.316	T	0.65438	-0.6168	10	0.13470	T	0.59	.	8.8634	0.35272	0.2236:0.7764:0.0:0.0	.	814	Q7Z7L1	SLN11_HUMAN	N	814	ENSP00000312402:S814N;ENSP00000378067:S814N	ENSP00000312402:S814N	S	-	2	0	SLFN11	30703753	0.001000	0.12720	0.074000	0.20217	0.023000	0.10783	0.020000	0.13466	0.973000	0.38340	0.655000	0.94253	AGC		0.463	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256480.1	NM_152270		22	33	0	0	0	1	0	22	33				
ZBTB21	49854	broad.mit.edu	37	21	43411430	43411430	+	Silent	SNP	C	C	T			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr21:43411430C>T	ENST00000310826.5	-	3	2958	c.2775G>A	c.(2773-2775)gaG>gaA	p.E925E	ZBTB21_ENST00000398511.3_Silent_p.E925E|ZBTB21_ENST00000398505.3_Silent_p.E724E|ZBTB21_ENST00000398499.1_Silent_p.E925E|ZBTB21_ENST00000465968.1_5'Flank	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	925					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)										CCTGGTGACGCTCCAGCTGCT	0.527																																						ENST00000310826.5																			0											c.(2773-2775)gaG>gaA		zinc finger and BTB domain containing 21							79.0	74.0	75.0					21																	43411430		2203	4300	6503	SO:0001819	synonymous_variant	49854							g.chr21:43411430C>T	AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13083	protein-coding gene	gene with protein product			"""zinc finger protein 295"""	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.2775G>A	21.37:g.43411430C>T			Somatic				ZBTB21_ENST00000398499.1_Silent_p.E925E|ZBTB21_ENST00000398505.3_Silent_p.E724E|ZBTB21_ENST00000398511.3_Silent_p.E925E	p.E925E	NM_001098402.1	NP_001091872.1	WXS	Illumina GAIIx	Phase_I					3	2958	-								Q5R2W1|Q5R2W2|Q6P4R0	Silent	SNP	ENST00000310826.5	37	c.2775G>A	CCDS13678.1																																																																																				0.527	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195308.1	NM_020727		24	58	0	0	0	1	0	24	58				
TGM2	7052	broad.mit.edu	37	20	36760851	36760851	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr20:36760851G>A	ENST00000361475.2	-	11	1840	c.1667C>T	c.(1666-1668)aCg>aTg	p.T556M	TGM2_ENST00000536724.1_Missense_Mutation_p.T496M|TGM2_ENST00000536701.1_Missense_Mutation_p.T475M	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	556					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|branching involved in salivary gland morphogenesis (GO:0060445)|isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein homooligomerization (GO:0051260)|salivary gland cavitation (GO:0060662)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	GTTGGACTCCGTAAGGCAGTC	0.542																																						ENST00000361475.2																			0				endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1666-1668)aCg>aTg		transglutaminase 2	L-Glutamine(DB00130)						189.0	189.0	189.0					20																	36760851		2203	4300	6503	SO:0001583	missense	7052				apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:36760851G>A	M98478	CCDS13302.1	20q12	2013-05-02	2013-05-02		ENSG00000198959	ENSG00000198959	2.3.2.13	"""Transglutaminases"""	11778	protein-coding gene	gene with protein product	"""C polypeptide, protein-glutamine-gamma-glutamyltransferase"""	190196	"""transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7912692, 11390390	Standard	NM_004613		Approved	TGC	uc002xhr.3	P21980	OTTHUMG00000032437	ENST00000361475.2:c.1667C>T	20.37:g.36760851G>A	ENSP00000355330:p.Thr556Met		Somatic				TGM2_ENST00000536701.1_Missense_Mutation_p.T475M|TGM2_ENST00000536724.1_Missense_Mutation_p.T496M	p.T556M	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	WXS	Illumina GAIIx	Phase_I	P21980	TGM2_HUMAN			11	1840	-		Myeloproliferative disorder(115;0.00878)	556					E1P5V9|Q16436|Q6B838|Q9BTN7|Q9UH35	Missense_Mutation	SNP	ENST00000361475.2	37	c.1667C>T	CCDS13302.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.108868	0.37242	.	.	ENSG00000198959	ENST00000361475;ENST00000536701;ENST00000536724	T;T;T	0.69435	-0.4;-0.4;-0.4	4.67	3.65	0.41850	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.169666	0.50627	D	0.000105	T	0.80454	0.4626	M	0.77820	2.39	0.53005	D	0.999965	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.998	T	0.82030	-0.0659	10	0.51188	T	0.08	-33.9145	13.7475	0.62883	0.0:0.0:0.8466:0.1534	.	496;475;496;556	F5H6P0;B4DIT7;B4DTN7;P21980	.;.;.;TGM2_HUMAN	M	556;475;496	ENSP00000355330:T556M;ENSP00000444701:T475M;ENSP00000437479:T496M	ENSP00000355330:T556M	T	-	2	0	TGM2	36194265	1.000000	0.71417	0.444000	0.26895	0.017000	0.09413	5.454000	0.66651	2.296000	0.77279	0.561000	0.74099	ACG		0.542	TGM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079151.2	NM_198951		4	237	0	0	0	1	0	4	237				
APEX2	27301	broad.mit.edu	37	X	55033295	55033295	+	Missense_Mutation	SNP	C	C	A			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chrX:55033295C>A	ENST00000374987.3	+	6	1050	c.984C>A	c.(982-984)ttC>ttA	p.F328L	ALAS2_ENST00000498636.1_5'Flank	NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	328					base-excision repair (GO:0006284)|cell cycle (GO:0007049)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						GCACCCGCTTCCTCCCTGAGT	0.572								Other BER factors																														ENST00000374987.3																			0				breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						c.(982-984)ttC>ttA	Other BER factors	APEX nuclease (apurinic/apyrimidinic endonuclease) 2							54.0	46.0	49.0					X																	55033295		2203	4300	6503	SO:0001583	missense	27301				cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding	g.chrX:55033295C>A	AB021260	CCDS14365.1	Xp11.23	2014-02-18			ENSG00000169188	ENSG00000169188	4.2.99.18		17889	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 2"""	300773				11376153	Standard	NM_014481		Approved	APEXL2, APE2, XTH2, ZGRF2	uc004dtz.4	Q9UBZ4	OTTHUMG00000021642	ENST00000374987.3:c.984C>A	X.37:g.55033295C>A	ENSP00000364126:p.Phe328Leu		Somatic					p.F328L	NM_014481.2	NP_055296.2	WXS	Illumina GAIIx	Phase_I	Q9UBZ4	APEX2_HUMAN			6	1050	+			328					Q9Y5X7	Missense_Mutation	SNP	ENST00000374987.3	37	c.984C>A	CCDS14365.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.537810	0.45176	.	.	ENSG00000169188	ENST00000374987	T	0.59906	0.23	4.59	2.8	0.32819	.	0.290985	0.39407	N	0.001375	T	0.45756	0.1358	L	0.57536	1.79	0.34077	D	0.659111	B	0.23316	0.083	B	0.21917	0.037	T	0.45760	-0.9239	10	0.11794	T	0.64	-10.8261	6.791	0.23699	0.0:0.6903:0.0:0.3097	.	328	Q9UBZ4	APEX2_HUMAN	L	328	ENSP00000364126:F328L	ENSP00000364126:F328L	F	+	3	2	APEX2	55050020	1.000000	0.71417	0.955000	0.39395	0.870000	0.49936	0.696000	0.25541	1.029000	0.39812	0.600000	0.82982	TTC		0.572	APEX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056845.1			15	36	1	0	3.27435e-08	1	3.44227e-08	15	36				
PPID	5481	broad.mit.edu	37	4	159638314	159638314	+	Silent	SNP	G	G	A			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr4:159638314G>A	ENST00000307720.3	-	4	479	c.372C>T	c.(370-372)ggC>ggT	p.G124G		NM_005038.2	NP_005029.1	Q08752	PPID_HUMAN	peptidylprolyl isomerase D	124	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				apoptotic process (GO:0006915)|cellular response to UV-A (GO:0071492)|chaperone-mediated protein folding (GO:0061077)|lipid particle organization (GO:0034389)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein secretion (GO:0050714)|positive regulation of viral genome replication (GO:0045070)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|protein transport (GO:0015031)|viral release from host cell (GO:0019076)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|estrogen receptor binding (GO:0030331)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|transcription factor binding (GO:0008134)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0159)		TTGTGTTGCGGCCTGCATTTG	0.393																																						ENST00000307720.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8						c.(370-372)ggC>ggT		peptidylprolyl isomerase D							117.0	116.0	116.0					4																	159638314		2203	4300	6503	SO:0001819	synonymous_variant	5481				protein folding	cytoplasm|intermediate filament cytoskeleton	cyclosporin A binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity	g.chr4:159638314G>A		CCDS3801.1	4q31.3	2013-01-10	2008-10-24		ENSG00000171497	ENSG00000171497		"""Tetratricopeptide (TTC) repeat domain containing"""	9257	protein-coding gene	gene with protein product	"""cyclophilin 40"""	601753	"""peptidylprolyl isomerase D (cyclophilin D)"""			8509368	Standard	NM_005038		Approved	CYP-40	uc003iqc.3	Q08752	OTTHUMG00000161927	ENST00000307720.3:c.372C>T	4.37:g.159638314G>A			Somatic					p.G124G	NM_005038.2	NP_005029.1	WXS	Illumina GAIIx	Phase_I	Q08752	PPID_HUMAN		COAD - Colon adenocarcinoma(41;0.0159)	4	479	-	all_hematologic(180;0.24)		124			PPIase cyclophilin-type.		B2R9V2	Silent	SNP	ENST00000307720.3	37	c.372C>T	CCDS3801.1																																																																																				0.393	PPID-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366436.1	NM_005038		26	53	0	0	0	1	0	26	53				
SF3B1	23451	broad.mit.edu	37	2	198267483	198267483	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr2:198267483C>T	ENST00000335508.6	-	14	1965	c.1874G>A	c.(1873-1875)cGt>cAt	p.R625H	SNORA4_ENST00000365564.1_RNA|SF3B1_ENST00000462613.1_5'Flank	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	625					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.R625L(9)|p.R625P(2)|p.R625H(1)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TGTTGTGTTACGGACATACTC	0.438			Mis		myelodysplastic syndrome																																	ENST00000335508.6				Dom	yes		2	2q33.1	23451	Mis	"""splicing factor 3b, subunit 1, 155kDa"""			L			myelodysplastic syndrome		12	Substitution - Missense(12)	p.R625L(9)|p.R625P(2)|p.R625H(1)	haematopoietic_and_lymphoid_tissue(8)|urinary_tract(1)|salivary_gland(1)|central_nervous_system(1)|skin(1)	NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(1873-1875)cGt>cAt		splicing factor 3b, subunit 1, 155kDa							95.0	92.0	93.0					2																	198267483		2203	4300	6503	SO:0001583	missense	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198267483C>T	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.1874G>A	2.37:g.198267483C>T	ENSP00000335321:p.Arg625His		Somatic					p.R625H	NM_012433.2	NP_036565.2	WXS	Illumina GAIIx	Phase_I	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		14	1965	-								E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.1874G>A	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	C	35	5.485860	0.96323	.	.	ENSG00000115524	ENST00000335508	T	0.74421	-0.84	5.82	5.82	0.92795	Armadillo-like helical (1);Armadillo-type fold (1);	0.053241	0.64402	D	0.000001	D	0.91369	0.7277	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93329	0.6699	10	0.87932	D	0	.	20.0991	0.97865	0.0:1.0:0.0:0.0	.	625	O75533	SF3B1_HUMAN	H	625	ENSP00000335321:R625H	ENSP00000335321:R625H	R	-	2	0	SF3B1	197975728	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.728000	0.84847	2.752000	0.94435	0.655000	0.94253	CGT		0.438	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			31	40	0	0	0	1	0	31	40				
OPA3	80207	broad.mit.edu	37	19	46056952	46056952	+	Silent	SNP	G	G	A			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr19:46056952G>A	ENST00000263275.4	-	2	414	c.360C>T	c.(358-360)aaC>aaT	p.N120N	OPA3_ENST00000544371.1_Silent_p.N67N|OPA3_ENST00000323060.3_Intron	NM_025136.3	NP_079412.1	Q9H6K4	OPA3_HUMAN	optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)	120					growth (GO:0040007)|mitochondrion morphogenesis (GO:0070584)|neuromuscular process (GO:0050905)|regulation of lipid metabolic process (GO:0019216)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	mitochondrion (GO:0005739)				cervix(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		CCCGCAGCGCGTTCCAGGCAG	0.721																																						ENST00000263275.4																			0				cervix(1)|large_intestine(1)|lung(2)	4						c.(358-360)aaC>aaT		optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)							13.0	15.0	14.0					19																	46056952		2187	4281	6468	SO:0001819	synonymous_variant	80207				response to stimulus|visual perception	mitochondrion		g.chr19:46056952G>A	AK025840	CCDS12668.1, CCDS33052.1	19q13.2-q13.3	2014-01-28				ENSG00000125741			8142	protein-coding gene	gene with protein product		606580				9097959, 11668429	Standard	NM_001017989		Approved	FLJ22187, MGA3	uc002pcj.4	Q9H6K4		ENST00000263275.4:c.360C>T	19.37:g.46056952G>A			Somatic				OPA3_ENST00000544371.1_Silent_p.N67N|OPA3_ENST00000323060.3_Intron	p.N120N	NM_025136.3	NP_079412.1	WXS	Illumina GAIIx	Phase_I	Q9H6K4	OPA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)	2	414	-		Ovarian(192;0.051)|all_neural(266;0.112)	120					Q6P384|Q8N784	Silent	SNP	ENST00000263275.4	37	c.360C>T	CCDS12668.1																																																																																				0.721	OPA3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459601.1			3	32	0	0	0	1	0	3	32				
ZNF479	90827	broad.mit.edu	37	7	57188369	57188369	+	Silent	SNP	G	G	A			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr7:57188369G>A	ENST00000331162.4	-	5	1023	c.753C>T	c.(751-753)agC>agT	p.S251S		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	251					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TTGCAGACCAGCTAAAGGCTT	0.428																																						ENST00000331162.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84						c.(751-753)agC>agT		zinc finger protein 479							42.0	43.0	43.0					7																	57188369		2097	4241	6338	SO:0001819	synonymous_variant	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57188369G>A	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.753C>T	7.37:g.57188369G>A			Somatic					p.S251S	NM_033273.1	NP_150376.1	WXS	Illumina GAIIx	Phase_I	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		5	1023	-			251						Silent	SNP	ENST00000331162.4	37	c.753C>T	CCDS43590.1																																																																																				0.428	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		18	19	0	0	0	1	0	18	19				
DNM1P47	100216544	broad.mit.edu	37	15	102304793	102304793	+	RNA	SNP	A	A	C			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr15:102304793A>C	ENST00000561463.1	+	0	12839									DNM1 pseudogene 47																		GCGTGGGAAGAAGAAGACACT	0.592																																						ENST00000561463.1																			0																																																			0							g.chr15:102304793A>C	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102304793A>C			Somatic								WXS	Illumina GAIIx	Phase_I					0	12839	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.592	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		4	10	0	0	0	1	0	4	10				
TMEM2	23670	broad.mit.edu	37	9	74312944	74312944	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr9:74312944G>A	ENST00000377044.4	-	20	4093	c.3554C>T	c.(3553-3555)cCg>cTg	p.P1185L	TMEM2_ENST00000377066.5_Missense_Mutation_p.P1122L|TMEM2_ENST00000396272.3_Missense_Mutation_p.P178L	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1185					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		GAGCATGGCCGGCATCCGCTT	0.512																																						ENST00000377044.4																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56						c.(3553-3555)cCg>cTg		transmembrane protein 2							133.0	103.0	113.0					9																	74312944		2203	4300	6503	SO:0001583	missense	23670					integral to membrane		g.chr9:74312944G>A		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.3554C>T	9.37:g.74312944G>A	ENSP00000366243:p.Pro1185Leu		Somatic				TMEM2_ENST00000377066.5_Missense_Mutation_p.P1122L|TMEM2_ENST00000396272.3_Missense_Mutation_p.P178L	p.P1185L	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	WXS	Illumina GAIIx	Phase_I	Q9UHN6	TMEM2_HUMAN		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	20	4093	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	1185					A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	c.3554C>T	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.250524	0.80024	.	.	ENSG00000135048	ENST00000377044;ENST00000377066;ENST00000396272	T;T;T	0.39592	1.07;1.07;1.07	5.8	4.91	0.64330	.	0.104160	0.64402	D	0.000002	T	0.64649	0.2617	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	0.995;1.0	P;D	0.71414	0.701;0.973	T	0.70066	-0.4974	10	0.87932	D	0	.	14.402	0.67053	0.0715:0.0:0.9285:0.0	.	1185;1122	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	L	1185;1122;178	ENSP00000366243:P1185L;ENSP00000366266:P1122L;ENSP00000379569:P178L	ENSP00000366243:P1185L	P	-	2	0	TMEM2	73502764	1.000000	0.71417	0.853000	0.33588	0.657000	0.38888	8.660000	0.91121	1.445000	0.47624	0.563000	0.77884	CCG		0.512	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		3	54	0	0	0	1	0	3	54				
TNS3	64759	broad.mit.edu	37	7	47440411	47440411	+	Missense_Mutation	SNP	C	C	G			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr7:47440411C>G	ENST00000398879.1	-	14	1190	c.824G>C	c.(823-825)gGg>gCg	p.G275A	TNS3_ENST00000355730.3_Intron|TNS3_ENST00000311160.9_Missense_Mutation_p.G275A			Q68CZ2	TENS3_HUMAN	tensin 3	275	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						ATCCTCCTTCCCAAACACCAG	0.582																																						ENST00000398879.1																			0				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						c.(823-825)gGg>gCg		tensin 3							77.0	94.0	89.0					7																	47440411		2066	4206	6272	SO:0001583	missense	64759					focal adhesion	protein binding	g.chr7:47440411C>G	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.824G>C	7.37:g.47440411C>G	ENSP00000381854:p.Gly275Ala		Somatic				TNS3_ENST00000355730.3_Intron|TNS3_ENST00000311160.9_Missense_Mutation_p.G275A	p.G275A			WXS	Illumina GAIIx	Phase_I	Q68CZ2	TENS3_HUMAN			14	1190	-			275			C2 tensin-type.		B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	37	c.824G>C	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	C	14.98	2.696714	0.48202	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000457718;ENST00000450444	D;D;D;D	0.85339	-1.97;-1.97;-1.97;-1.97	4.99	4.1	0.47936	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.273612	0.35677	N	0.003060	T	0.78972	0.4368	L	0.55834	1.745	0.80722	D	1	B	0.15719	0.014	B	0.16289	0.015	T	0.69859	-0.5031	10	0.06236	T	0.91	-15.2264	13.0126	0.58739	0.0:0.8269:0.1731:0.0	.	275	Q68CZ2	TENS3_HUMAN	A	275;385;275;378;364	ENSP00000312143:G275A;ENSP00000381854:G275A;ENSP00000414358:G378A;ENSP00000396914:G364A	ENSP00000312143:G275A	G	-	2	0	TNS3	47406936	0.865000	0.29922	0.532000	0.27989	0.970000	0.65996	1.607000	0.36836	1.106000	0.41623	0.456000	0.33151	GGG		0.582	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		11	41	0	0	0	1	0	11	41				
COL14A1	7373	broad.mit.edu	37	8	121216019	121216019	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr8:121216019G>A	ENST00000297848.3	+	9	1219	c.949G>A	c.(949-951)Gtt>Att	p.V317I	COL14A1_ENST00000537875.1_Missense_Mutation_p.V317I|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.V317I|COL14A1_ENST00000247781.3_Missense_Mutation_p.V222I	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TGTGTACAATGTTGCCGAATT	0.463																																						ENST00000297848.3																			0				NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.(949-951)Gtt>Att		collagen, type XIV, alpha 1							137.0	117.0	124.0					8																	121216019		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121216019G>A		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.949G>A	8.37:g.121216019G>A	ENSP00000297848:p.Val317Ile		Somatic				COL14A1_ENST00000247781.3_Missense_Mutation_p.V222I|COL14A1_ENST00000309791.4_Missense_Mutation_p.V317I|COL14A1_ENST00000537875.1_Missense_Mutation_p.V317I|COL14A1_ENST00000432943.2_3'UTR	p.V317I	NM_021110.1	NP_066933.1	WXS	Illumina GAIIx	Phase_I	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		9	1219	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		317			VWFA 1.			Missense_Mutation	SNP	ENST00000297848.3	37	c.949G>A	CCDS34938.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.1|23.1	4.371678|4.371678	0.82573|0.82573	.|.	.|.	ENSG00000187955|ENSG00000187955	ENST00000523142|ENST00000537875;ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	.|T;T;T;T;D	.|0.84070	.|-1.27;-1.27;-1.27;0.39;-1.8	5.32|5.32	5.32|5.32	0.75619|0.75619	.|von Willebrand factor, type A (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.84633|0.84633	0.5515|0.5515	M|M	0.75150|0.75150	2.29|2.29	0.54753|0.54753	D|D	0.999989|0.999989	.|P	.|0.39044	.|0.656	.|B	.|0.41332	.|0.354	T|T	0.82544|0.82544	-0.0404|-0.0404	5|10	.|0.25751	.|T	.|0.34	.|.	19.1925|19.1925	0.93672|0.93672	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|317	.|Q05707	.|COEA1_HUMAN	Y|I	73|317;317;317;222;130	.|ENSP00000443974:V317I;ENSP00000311809:V317I;ENSP00000297848:V317I;ENSP00000247781:V222I;ENSP00000409461:V130I	.|ENSP00000247781:V222I	C|V	+|+	2|1	0|0	COL14A1|COL14A1	121285200|121285200	1.000000|1.000000	0.71417|0.71417	0.476000|0.476000	0.27291|0.27291	0.348000|0.348000	0.29142|0.29142	9.640000|9.640000	0.98453|0.98453	2.767000|2.767000	0.95098|0.95098	0.655000|0.655000	0.94253|0.94253	TGT|GTT		0.463	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		12	46	0	0	0	1	0	12	46				
KRTAP4-8	728224	broad.mit.edu	37	17	39254054	39254054	+	Missense_Mutation	SNP	A	A	T	rs76270529		TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr17:39254054A>T	ENST00000333822.4	-	1	339	c.283T>A	c.(283-285)Tgc>Agc	p.C95S		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	95	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.C95S(4)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						ctggagatgcagcagcTAGGG	0.677																																						ENST00000333822.4																			4	Substitution - Missense(4)	p.C95S(4)	endometrium(3)|kidney(1)	endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						c.(283-285)Tgc>Agc		keratin associated protein 4-8							7.0	11.0	10.0					17																	39254054		685	1582	2267	SO:0001583	missense	728224					keratin filament		g.chr17:39254054A>T	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"""Keratin associated proteins"""	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.283T>A	17.37:g.39254054A>T	ENSP00000328444:p.Cys95Ser		Somatic					p.C95S	NM_031960.2	NP_114166.1	WXS	Illumina GAIIx	Phase_I	Q9BYQ9	KRA48_HUMAN			1	339	-			95			25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].		A8MSH3	Missense_Mutation	SNP	ENST00000333822.4	37	c.283T>A	CCDS45674.1	.	.	.	.	.	.	.	.	.	.	.	15.18	2.755714	0.49362	.	.	ENSG00000204880	ENST00000333822;ENST00000332991	T	0.02280	4.36	3.11	2.01	0.26516	.	0.000000	0.52532	U	0.000067	T	0.04497	0.0123	M	0.83223	2.63	0.25182	N	0.99019	B	0.21606	0.058	B	0.27887	0.084	T	0.21793	-1.0235	10	0.54805	T	0.06	.	6.3859	0.21559	0.8715:0.0:0.1285:0.0	.	95	Q9BYQ9	KRA48_HUMAN	S	95;80	ENSP00000328444:C95S	ENSP00000414561:C80S	C	-	1	0	KRTAP4-8	36507580	0.999000	0.42202	0.393000	0.26258	0.649000	0.38597	3.122000	0.50446	0.404000	0.25506	0.374000	0.22700	TGC		0.677	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960		3	52	0	0	0	1	0	3	52				
TENM2	57451	broad.mit.edu	37	5	167689135	167689135	+	Missense_Mutation	SNP	C	C	A			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr5:167689135C>A	ENST00000518659.1	+	29	7684	c.7645C>A	c.(7645-7647)Ctc>Atc	p.L2549I	TENM2_ENST00000520394.1_Missense_Mutation_p.L2310I|TENM2_ENST00000545108.1_Missense_Mutation_p.L2548I|TENM2_ENST00000519204.1_Missense_Mutation_p.L2428I|TENM2_ENST00000403607.2_Missense_Mutation_p.L2373I	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2549					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										TACTAAAAAGCTCCACGCCAG	0.507																																						ENST00000519204.1																			0											c.(7282-7284)Ctc>Atc		teneurin transmembrane protein 2							44.0	44.0	44.0					5																	167689135		2002	4166	6168	SO:0001583	missense	57451							g.chr5:167689135C>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.7645C>A	5.37:g.167689135C>A	ENSP00000429430:p.Leu2549Ile		Somatic				TENM2_ENST00000518659.1_Missense_Mutation_p.L2549I|TENM2_ENST00000520394.1_Missense_Mutation_p.L2310I|TENM2_ENST00000545108.1_Missense_Mutation_p.L2548I|TENM2_ENST00000403607.2_Missense_Mutation_p.L2373I	p.L2428I			WXS	Illumina GAIIx	Phase_I					28	7400	+								Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.7282C>A		.	.	.	.	.	.	.	.	.	.	C	13.77	2.335708	0.41398	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.89875	-2.1;-2.09;-2.2;-2.58;-2.57	5.42	5.42	0.78866	.	0.183165	0.46442	D	0.000300	T	0.72526	0.3471	N	0.02539	-0.55	0.37417	D	0.913466	P;P;B	0.45902	0.868;0.629;0.318	B;B;B	0.38880	0.284;0.247;0.1	T	0.78145	-0.2318	10	0.29301	T	0.29	.	12.5364	0.56144	0.0:0.8801:0.0:0.1199	.	2548;2549;2310	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	I	2549;2548;2428;2310;2373	ENSP00000429430:L2549I;ENSP00000438635:L2548I;ENSP00000428964:L2428I;ENSP00000427874:L2310I;ENSP00000384905:L2373I	ENSP00000384905:L2373I	L	+	1	0	ODZ2	167621713	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.966000	0.40481	2.694000	0.91930	0.655000	0.94253	CTC		0.507	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		3	34	1	0	1	1	1	3	34				
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4				Dom	yes		9	9q21	2776	Mis	"""guanine nucleotide binding protein (G protein), q polypeptide"""			E			uveal melanoma		153	Substitution - Missense(153)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cCa		guanine nucleotide binding protein (G protein), q polypeptide							108.0	105.0	106.0					9																	80409488		2203	4300	6503	SO:0001583	missense	2776				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>G		CCDS6658.1	9q21	2010-03-17			ENSG00000156052	ENSG00000156052			4390	protein-coding gene	gene with protein product		600998				8825633	Standard	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	P50148	OTTHUMG00000020059	ENST00000286548.4:c.626A>C	9.37:g.80409488T>G	ENSP00000286548:p.Gln209Pro		Somatic				GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	p.Q209P	NM_002072.3	NP_002063.2	WXS	Illumina GAIIx	Phase_I	P50148	GNAQ_HUMAN			5	848	-			209					O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>C	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614273	0.87359	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97164	0.9073	H	0.97291	3.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98607	1.0661	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	P	209;7	ENSP00000286548:Q209P;ENSP00000443197:Q7P	ENSP00000286548:Q209P	Q	-	2	0	GNAQ	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1	NM_002072		43	33	0	0	0	1	0	43	33				
DNM1P47	100216544	broad.mit.edu	37	15	102304792	102304792	+	RNA	SNP	G	G	C			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr15:102304792G>C	ENST00000561463.1	+	0	12838									DNM1 pseudogene 47																		CGCGTGGGAAGAAGAAGACAC	0.587																																						ENST00000561463.1																			0																																																			0							g.chr15:102304792G>C	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102304792G>C			Somatic								WXS	Illumina GAIIx	Phase_I					0	12838	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.587	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		5	10	0	0	0	1	0	5	10				
CDH4	1002	broad.mit.edu	37	20	60511888	60511888	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr20:60511888G>A	ENST00000360469.5	+	16	2726	c.2638G>A	c.(2638-2640)Gtc>Atc	p.V880I	CDH4_ENST00000543233.1_Missense_Mutation_p.V806I	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	880	Ser-rich.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V880I(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CGCAGGCTCCGTCAGCTCCCT	0.632																																						ENST00000360469.5																			1	Substitution - Missense(1)	p.V880I(1)	endometrium(1)	NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(2638-2640)Gtc>Atc		cadherin 4, type 1, R-cadherin (retinal)							58.0	50.0	53.0					20																	60511888		2203	4300	6503	SO:0001583	missense	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60511888G>A	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.2638G>A	20.37:g.60511888G>A	ENSP00000353656:p.Val880Ile		Somatic				CDH4_ENST00000543233.1_Missense_Mutation_p.V806I	p.V880I	NM_001794.3	NP_001785.2	WXS	Illumina GAIIx	Phase_I	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		16	2726	+			880			Ser-rich.		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	c.2638G>A	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.564639	0.27915	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.77229	-1.08;-1.08	4.49	4.49	0.54785	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	T	0.76183	0.3952	N	0.05592	-0.015	0.58432	D	0.99999	D	0.89917	1.0	D	0.79784	0.993	T	0.77140	-0.2697	9	.	.	.	.	17.1925	0.86883	0.0:0.0:1.0:0.0	.	880	P55283	CADH4_HUMAN	I	880;788;806	ENSP00000353656:V880I;ENSP00000443301:V806I	.	V	+	1	0	CDH4	59945283	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	3.283000	0.51701	2.068000	0.61886	0.467000	0.42956	GTC		0.632	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		3	29	0	0	0	1	0	3	29				
TMEM39A	55254	broad.mit.edu	37	3	119156948	119156948	+	Missense_Mutation	SNP	A	A	T			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr3:119156948A>T	ENST00000319172.5	-	6	998	c.578T>A	c.(577-579)tTt>tAt	p.F193Y	TMEM39A_ENST00000486159.1_5'UTR	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	193						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		ATAAACACCAAACCTGTAAAA	0.363																																						ENST00000319172.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13						c.(577-579)tTt>tAt		transmembrane protein 39A							36.0	33.0	34.0					3																	119156948		2203	4300	6503	SO:0001583	missense	55254					integral to membrane		g.chr3:119156948A>T	BC021277	CCDS2987.1	3q13.33	2005-01-10			ENSG00000176142	ENSG00000176142			25600	protein-coding gene	gene with protein product						12477932	Standard	NM_018266		Approved	FLJ10902	uc003eck.2	Q9NV64	OTTHUMG00000159361	ENST00000319172.5:c.578T>A	3.37:g.119156948A>T	ENSP00000326063:p.Phe193Tyr		Somatic				TMEM39A_ENST00000486159.1_5'UTR	p.F193Y	NM_018266.1	NP_060736.1	WXS	Illumina GAIIx	Phase_I	Q9NV64	TM39A_HUMAN		GBM - Glioblastoma multiforme(114;0.244)	6	998	-			193					D3DN80|Q53FN4|Q53GI1|Q6PKB5	Missense_Mutation	SNP	ENST00000319172.5	37	c.578T>A	CCDS2987.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.134210	0.77662	.	.	ENSG00000176142	ENST00000319172;ENST00000491685	T	0.50548	0.74	5.65	5.65	0.86999	.	0.155564	0.64402	D	0.000014	T	0.63896	0.2550	L	0.55743	1.74	0.80722	D	1	D	0.62365	0.991	D	0.71414	0.973	T	0.66143	-0.5997	10	0.66056	D	0.02	-13.6667	15.0573	0.71925	1.0:0.0:0.0:0.0	.	193	Q9NV64	TM39A_HUMAN	Y	193;39	ENSP00000326063:F193Y	ENSP00000326063:F193Y	F	-	2	0	TMEM39A	120639638	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.962000	0.93254	2.153000	0.67306	0.528000	0.53228	TTT		0.363	TMEM39A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354941.3	NM_018266		15	16	0	0	0	1	0	15	16				
KANK3	256949	broad.mit.edu	37	19	8389559	8389559	+	Silent	SNP	C	C	T			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr19:8389559C>T	ENST00000593649.1	-	9	2303	c.2238G>A	c.(2236-2238)cgG>cgA	p.R746R	KANK3_ENST00000330915.3_Silent_p.R746R			Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	746										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						TGAGCAGCAGCCGCACGGTGT	0.637																																						ENST00000330915.3																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						c.(2236-2238)cgG>cgA		KN motif and ankyrin repeat domains 3							58.0	54.0	55.0					19																	8389559		2203	4300	6503	SO:0001819	synonymous_variant	256949							g.chr19:8389559C>T	AK128815	CCDS12199.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000186994		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	24796	protein-coding gene	gene with protein product		614611	"""ankyrin repeat domain 47"""	ANKRD47		17996375, 19554261	Standard	NM_198471		Approved	FLJ46061	uc010dwa.3	Q6NY19		ENST00000593649.1:c.2238G>A	19.37:g.8389559C>T			Somatic				KANK3_ENST00000593649.1_Silent_p.R746R	p.R746R	NM_198471.2	NP_940873.2	WXS	Illumina GAIIx	Phase_I	Q6NY19	KANK3_HUMAN			9	2303	-			746					Q6NZI1|Q6ZQR3|Q8IUV2	Silent	SNP	ENST00000593649.1	37	c.2238G>A																																																																																					0.637	KANK3-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000461379.1	NM_198471		26	48	0	0	0	1	0	26	48				
FRG1B	284802	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr20:29628236G>C	ENST00000278882.3	+	6	618	c.238G>C	c.(238-240)Gct>Cct	p.A80P	FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P|FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	80								p.A80P(8)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363																																						ENST00000278882.3																			8	Substitution - Missense(8)	p.A80P(8)	prostate(4)|kidney(4)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(238-240)Gct>Cct																																						SO:0001583	missense	0							g.chr20:29628236G>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.238G>C	20.37:g.29628236G>C	ENSP00000278882:p.Ala80Pro		Somatic				FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P	p.A80P			WXS	Illumina GAIIx	Phase_I					6	618	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.238G>C		.	.	.	.	.	.	.	.	.	.	g	15.73	2.920277	0.52653	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.57595	0.39	2.08	2.08	0.27032	Actin cross-linking (1);	0.052409	0.85682	D	0.000000	T	0.68952	0.3057	.	.	.	0.80722	D	1	D;D	0.64830	0.994;0.988	D;D	0.85130	0.997;0.993	T	0.72766	-0.4194	9	0.87932	D	0	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	85;80	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	P	80;85;80	ENSP00000408863:A85P	ENSP00000278882:A80P	A	+	1	0	FRG1B	28241897	1.000000	0.71417	1.000000	0.80357	0.334000	0.28698	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	98	0	0	0	1	0	4	98				
ATF7IP2	80063	broad.mit.edu	37	16	10524545	10524545	+	Missense_Mutation	SNP	G	G	A	rs150059548	byFrequency	TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr16:10524545G>A	ENST00000396560.2	+	3	295	c.68G>A	c.(67-69)cGg>cAg	p.R23Q	ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000396559.1_Missense_Mutation_p.R23Q|ATF7IP2_ENST00000324570.5_Missense_Mutation_p.R23Q|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.R23Q	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	23					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				large_intestine(3)	3						CTAAGTTGCCGGAAGCAAGTA	0.393																																						ENST00000396560.2																			0				large_intestine(3)	3						c.(67-69)cGg>cAg		activating transcription factor 7 interacting protein 2		G	GLN/ARG	0,4394		0,0,2197	79.0	75.0	76.0		68	3.2	1.0	16	dbSNP_134	76	3,8597	3.0+/-9.4	0,3,4297	yes	missense	ATF7IP2	NM_024997.2	43	0,3,6494	AA,AG,GG		0.0349,0.0,0.0231	possibly-damaging	23/683	10524545	3,12991	2197	4300	6497	SO:0001583	missense	80063				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr16:10524545G>A	AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.68G>A	16.37:g.10524545G>A	ENSP00000379808:p.Arg23Gln		Somatic				ATF7IP2_ENST00000396559.1_Missense_Mutation_p.R23Q|ATF7IP2_ENST00000324570.5_Missense_Mutation_p.R23Q|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.R23Q|ATF7IP2_ENST00000543967.1_Intron	p.R23Q	NM_024997.3	NP_079273.2	WXS	Illumina GAIIx	Phase_I	Q5U623	MCAF2_HUMAN			3	295	+			23					B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Missense_Mutation	SNP	ENST00000396560.2	37	c.68G>A	CCDS10540.1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.695430	0.68386	0.0	3.49E-4	ENSG00000166669	ENST00000396559;ENST00000396560;ENST00000535850;ENST00000356427;ENST00000324570	T;T	0.28069	1.63;1.63	5.25	3.23	0.37069	.	0.323367	0.22643	N	0.057428	T	0.25344	0.0616	L	0.34521	1.04	0.25980	N	0.98238	D;D	0.61697	0.975;0.99	B;P	0.46718	0.427;0.525	T	0.05767	-1.0865	10	0.34782	T	0.22	-4.4003	8.8192	0.35016	0.1836:0.0:0.8164:0.0	.	23;23	Q5U623-2;Q5U623	.;MCAF2_HUMAN	Q	23	ENSP00000379808:R23Q;ENSP00000348799:R23Q	ENSP00000322811:R23Q	R	+	2	0	ATF7IP2	10432046	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	2.400000	0.44504	1.177000	0.42855	0.467000	0.42956	CGG		0.393	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251961.1	NM_024997		3	74	0	0	0	1	0	3	74				
SERPIND1	3053	broad.mit.edu	37	22	21134429	21134429	+	Missense_Mutation	SNP	G	G	C			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr22:21134429G>C	ENST00000215727.5	+	2	1112	c.829G>C	c.(829-831)Gct>Cct	p.A277P	PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000572273.1_Intron|SERPIND1_ENST00000406799.1_Missense_Mutation_p.A277P|PI4KA_ENST00000466162.1_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	277					blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)|Sulodexide(DB06271)	CATAAAAGATGCTCTGGAGAA	0.453																																						ENST00000215727.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(829-831)Gct>Cct		serpin peptidase inhibitor, clade D (heparin cofactor), member 1	Ardeparin(DB00407)						188.0	194.0	192.0					22																	21134429		2203	4300	6503	SO:0001583	missense	3053				blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity	g.chr22:21134429G>C	M12849	CCDS13783.1	22q11.21	2014-02-18	2005-08-18		ENSG00000099937	ENSG00000099937		"""Serine (or cysteine) peptidase inhibitors"""	4838	protein-coding gene	gene with protein product	"""heparin cofactor II"""	142360	"""serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1"""	HCF2		1671335, 24172014	Standard	XM_005261597		Approved	HC-II, HLS2, HC2, D22S673	uc002ztb.1	P05546	OTTHUMG00000150755	ENST00000215727.5:c.829G>C	22.37:g.21134429G>C	ENSP00000215727:p.Ala277Pro		Somatic				PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000255882.6_Intron|SERPIND1_ENST00000406799.1_Missense_Mutation_p.A277P	p.A277P	NM_000185.3	NP_000176.2	WXS	Illumina GAIIx	Phase_I	P05546	HEP2_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		2	1112	+	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	277					B2RAI1|D3DX34|Q6IBZ5	Missense_Mutation	SNP	ENST00000215727.5	37	c.829G>C	CCDS13783.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.212926	0.79352	.	.	ENSG00000099937	ENST00000215727;ENST00000406799	D;D	0.84660	-1.88;-1.88	5.97	5.97	0.96955	Serpin domain (3);	0.048266	0.85682	D	0.000000	T	0.78027	0.4219	N	0.16903	0.455	0.58432	D	0.999997	B;B	0.19200	0.034;0.034	B;B	0.18263	0.021;0.021	T	0.69935	-0.5010	10	0.33940	T	0.23	.	20.428	0.99075	0.0:0.0:1.0:0.0	.	277;277	Q8IVC0;P05546	.;HEP2_HUMAN	P	277	ENSP00000215727:A277P;ENSP00000384050:A277P	ENSP00000215727:A277P	A	+	1	0	SERPIND1	19464429	1.000000	0.71417	0.132000	0.22025	0.996000	0.88848	5.161000	0.64935	2.837000	0.97791	0.655000	0.94253	GCT		0.453	SERPIND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319961.1	NM_000185		143	150	0	0	0	1	0	143	150				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G			Somatic						NR_003086.1		WXS	Illumina GAIIx	Phase_I					0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		4	83	0	0	0	1	0	4	83				
ARHGAP4	393	broad.mit.edu	37	X	153175798	153175798	+	Silent	SNP	C	C	T			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chrX:153175798C>T	ENST00000350060.5	-	17	2024	c.1983G>A	c.(1981-1983)ggG>ggA	p.G661G	ARHGAP4_ENST00000537206.1_Silent_p.G638G|ARHGAP4_ENST00000370016.1_Silent_p.G640G|ARHGAP4_ENST00000370028.3_Silent_p.G701G|ARHGAP4_ENST00000467421.1_5'UTR|ARHGAP4_ENST00000393721.1_Silent_p.G483G	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	661	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|negative regulation of axon extension (GO:0030517)|negative regulation of fibroblast migration (GO:0010764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)	Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCAGCGTGGGCCCGAAGCACA	0.672																																						ENST00000370028.3																			0				central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14						c.(2101-2103)ggG>ggA		Rho GTPase activating protein 4							21.0	22.0	21.0					X																	153175798		2203	4298	6501	SO:0001819	synonymous_variant	393				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chrX:153175798C>T	X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820		"""Rho GTPase activating proteins"""	674	protein-coding gene	gene with protein product	"""Rho-GAP hematopoietic protein C1"""	300023				8570618	Standard	NM_001666		Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000350060.5:c.1983G>A	X.37:g.153175798C>T			Somatic				ARHGAP4_ENST00000467421.1_5'UTR|ARHGAP4_ENST00000393721.1_Silent_p.G483G|ARHGAP4_ENST00000350060.5_Silent_p.G661G|ARHGAP4_ENST00000370016.1_Silent_p.G640G|ARHGAP4_ENST00000537206.1_Silent_p.G638G	p.G701G	NM_001164741.1	NP_001158213.1	WXS	Illumina GAIIx	Phase_I	P98171	RHG04_HUMAN			18	2160	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		661					Q14144|Q86UY3	Silent	SNP	ENST00000350060.5	37	c.2103G>A	CCDS14736.1	.	.	.	.	.	.	.	.	.	.	C	7.452	0.642969	0.14451	.	.	ENSG00000089820	ENST00000442172	T	0.14391	2.51	4.68	3.8	0.43715	.	0.000000	0.41712	D	0.000835	T	0.19525	0.0469	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.01869	-1.1257	7	0.87932	D	0	.	3.8697	0.09031	0.0:0.5829:0.2064:0.2107	.	.	.	.	D	150	ENSP00000408656:G150D	ENSP00000408656:G150D	G	-	2	0	ARHGAP4	152828992	0.997000	0.39634	0.975000	0.42487	0.534000	0.34807	0.428000	0.21395	1.918000	0.55548	0.592000	0.82586	GGC		0.672	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061119.1	NM_001666		23	24	0	0	0	1	0	23	24				
OR8A1	390275	broad.mit.edu	37	11	124440297	124440297	+	Silent	SNP	C	C	T	rs61748716	byFrequency	TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr11:124440297C>T	ENST00000284287.3	+	1	405	c.333C>T	c.(331-333)taC>taT	p.Y111Y		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	111					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y111Y(1)		haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		TCATCTCCTACGCAGGGTGCA	0.473													C|||	3	0.000599042	0.0008	0.0	5008	,	,		24672	0.0		0.0	False		,,,				2504	0.002					ENST00000284287.3																			1	Substitution - coding silent(1)	p.Y111Y(1)	prostate(1)	haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22						c.(331-333)taC>taT		olfactory receptor, family 8, subfamily A, member 1		C		3,4399	6.2+/-15.9	0,3,2198	176.0	155.0	162.0		333	0.2	0.9	11	dbSNP_129	162	0,8598		0,0,4299	no	coding-synonymous	OR8A1	NM_001005194.1		0,3,6497	TT,TC,CC		0.0,0.0682,0.0231		111/327	124440297	3,12997	2201	4299	6500	SO:0001819	synonymous_variant	390275				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124440297C>T	BK004495	CCDS31712.1	11q24.2	2012-08-09			ENSG00000196119	ENSG00000196119		"""GPCR / Class A : Olfactory receptors"""	8469	protein-coding gene	gene with protein product							Standard	NM_001005194		Approved	OST025	uc010san.2	Q8NGG7	OTTHUMG00000165923	ENST00000284287.3:c.333C>T	11.37:g.124440297C>T			Somatic					p.Y111Y	NM_001005194.1	NP_001005194.1	WXS	Illumina GAIIx	Phase_I	Q8NGG7	OR8A1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)	1	405	+		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	111					Q6IEW7|Q96RC6	Silent	SNP	ENST00000284287.3	37	c.333C>T	CCDS31712.1																																																																																				0.473	OR8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387062.1	NM_001005194		36	47	0	0	0	1	0	36	47				
PLA1A	51365	broad.mit.edu	37	3	119347699	119347699	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr3:119347699C>T	ENST00000273371.4	+	10	1345	c.1273C>T	c.(1273-1275)Cct>Tct	p.P425S	PLA1A_ENST00000494440.1_Missense_Mutation_p.P409S|PLA1A_ENST00000488919.1_Missense_Mutation_p.P252S|PLA1A_ENST00000495992.1_Missense_Mutation_p.P409S	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	425	Involved in the recognition of diacyl- phospholipids.				lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|phosphatidylserine metabolic process (GO:0006658)	extracellular vesicular exosome (GO:0070062)	phosphatidylcholine 1-acylhydrolase activity (GO:0008970)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGCCCTTTTGCCTGTCAATGA	0.453																																						ENST00000273371.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1273-1275)Cct>Tct		phospholipase A1 member A							111.0	109.0	110.0					3																	119347699		2203	4300	6503	SO:0001583	missense	51365				lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity	g.chr3:119347699C>T	AF035268	CCDS2991.1, CCDS56268.1, CCDS56269.1	3q13.13-q13.2	2002-11-28			ENSG00000144837	ENSG00000144837			17661	protein-coding gene	gene with protein product		607460				10196188	Standard	NM_015900		Approved	ps-PLA1	uc003ecu.3	Q53H76	OTTHUMG00000159425	ENST00000273371.4:c.1273C>T	3.37:g.119347699C>T	ENSP00000273371:p.Pro425Ser		Somatic				PLA1A_ENST00000495992.1_Missense_Mutation_p.P409S|PLA1A_ENST00000488919.1_Missense_Mutation_p.P252S|PLA1A_ENST00000494440.1_Missense_Mutation_p.P409S	p.P425S	NM_015900.3	NP_056984.1	WXS	Illumina GAIIx	Phase_I	Q53H76	PLA1A_HUMAN			10	1345	+			425			Involved in the recognition of diacyl- phospholipids.		B2R8V2|B4DXA2|O95991|Q86WX6|Q9UPD2	Missense_Mutation	SNP	ENST00000273371.4	37	c.1273C>T	CCDS2991.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.887762	0.52014	.	.	ENSG00000144837	ENST00000273371;ENST00000488919;ENST00000495992;ENST00000494440	D;D;D;D	0.95412	-3.16;-3.7;-3.06;-3.22	5.39	5.39	0.77823	.	0.123692	0.56097	D	0.000037	D	0.95790	0.8630	L	0.36672	1.1	0.42046	D	0.991091	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.93881	0.7171	10	0.17369	T	0.5	-20.3177	16.0768	0.80974	0.0:1.0:0.0:0.0	.	409;425	Q53H76-3;Q53H76	.;PLA1A_HUMAN	S	425;252;409;409	ENSP00000273371:P425S;ENSP00000420625:P252S;ENSP00000417326:P409S;ENSP00000418793:P409S	ENSP00000273371:P425S	P	+	1	0	PLA1A	120830389	1.000000	0.71417	0.883000	0.34634	0.172000	0.22775	4.300000	0.59079	2.521000	0.84997	0.561000	0.74099	CCT		0.453	PLA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355252.2			4	123	0	0	0	1	0	4	123				
CAT	847	broad.mit.edu	37	11	34489856	34489856	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr11:34489856G>A	ENST00000241052.4	+	11	1437	c.1348G>A	c.(1348-1350)Gtg>Atg	p.V450M		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	450					aerobic respiration (GO:0009060)|cellular response to growth factor stimulus (GO:0071363)|cholesterol metabolic process (GO:0008203)|hemoglobin metabolic process (GO:0020027)|hydrogen peroxide catabolic process (GO:0042744)|menopause (GO:0042697)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleobase-containing small molecule metabolic process (GO:0055086)|osteoblast differentiation (GO:0001649)|positive regulation of cell division (GO:0051781)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to reactive oxygen species (GO:0000302)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)|ureteric bud development (GO:0001657)|UV protection (GO:0009650)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	aminoacylase activity (GO:0004046)|antioxidant activity (GO:0016209)|catalase activity (GO:0004096)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|oxidoreductase activity, acting on peroxide as acceptor (GO:0016684)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	CTATGTGAACGTGCTGAATGA	0.443																																						ENST00000241052.4																			0				breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26						c.(1348-1350)Gtg>Atg		catalase	Fomepizole(DB01213)						136.0	134.0	135.0					11																	34489856		2202	4298	6500	SO:0001583	missense	847				hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity	g.chr11:34489856G>A	AY028632	CCDS7891.1	11p13	2012-10-02			ENSG00000121691	ENSG00000121691	1.11.1.6		1516	protein-coding gene	gene with protein product		115500					Standard	NM_001752		Approved		uc001mvm.3	P04040	OTTHUMG00000044353	ENST00000241052.4:c.1348G>A	11.37:g.34489856G>A	ENSP00000241052:p.Val450Met		Somatic					p.V450M	NM_001752.3	NP_001743.1	WXS	Illumina GAIIx	Phase_I	P04040	CATA_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000995)	11	1437	+		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)	450					A8K6C0|B2RCZ9|D3DR07|Q2M1U4|Q4VXX5|Q9BWT9|Q9UC85	Missense_Mutation	SNP	ENST00000241052.4	37	c.1348G>A	CCDS7891.1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.902776	0.72754	.	.	ENSG00000121691	ENST00000241052	D	0.93019	-3.15	5.59	3.74	0.42951	Catalase domain (1);Catalase-related immune responsive (1);	0.000000	0.85682	D	0.000000	D	0.95774	0.8625	M	0.83012	2.62	0.54753	D	0.999985	D	0.69078	0.997	D	0.65874	0.939	D	0.94654	0.7842	10	0.59425	D	0.04	-9.529	8.7832	0.34804	0.235:0.0:0.765:0.0	.	450	P04040	CATA_HUMAN	M	450	ENSP00000241052:V450M	ENSP00000241052:V450M	V	+	1	0	CAT	34446432	1.000000	0.71417	0.004000	0.12327	0.251000	0.25915	6.173000	0.71937	0.732000	0.32470	0.555000	0.69702	GTG		0.443	CAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103197.2	NM_001752		62	87	0	0	0	1	0	62	87				
AKAP2	11217	broad.mit.edu	37	9	112899621	112899621	+	Silent	SNP	G	G	T			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr9:112899621G>T	ENST00000259318.7	+	2	1311	c.1104G>T	c.(1102-1104)ctG>ctT	p.L368L	AKAP2_ENST00000434623.2_Silent_p.L457L|PALM2-AKAP2_ENST00000302798.7_Silent_p.L599L|AKAP2_ENST00000374525.1_Silent_p.L457L|AKAP2_ENST00000510514.5_Silent_p.L599L|PALM2-AKAP2_ENST00000374530.3_Silent_p.L599L|AKAP2_ENST00000555236.1_Silent_p.L599L	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	368										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						ACAAGCCACTGACTAATCCGA	0.602																																						ENST00000374530.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						c.(1795-1797)ctG>ctT									57.0	62.0	60.0					9																	112899621		2203	4300	6503	SO:0001819	synonymous_variant	0						enzyme binding	g.chr9:112899621G>T	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.1104G>T	9.37:g.112899621G>T			Somatic				AKAP2_ENST00000555236.1_Silent_p.L599L|AKAP2_ENST00000510514.5_Silent_p.L599L|AKAP2_ENST00000374525.1_Silent_p.L457L|PALM2-AKAP2_ENST00000302798.7_Silent_p.L599L|AKAP2_ENST00000434623.2_Silent_p.L457L|AKAP2_ENST00000259318.7_Silent_p.L368L	p.L599L	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	WXS	Illumina GAIIx	Phase_I	Q9Y2D5	AKAP2_HUMAN			8	1977	+			368					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Silent	SNP	ENST00000259318.7	37	c.1797G>T	CCDS48003.1																																																																																				0.602	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		24	46	1	0	2.41591e-17	1	2.60664e-17	24	46				
PYCR2	29920	broad.mit.edu	37	1	226108959	226108959	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr1:226108959C>T	ENST00000343818.6	-	6	894	c.746G>A	c.(745-747)gGc>gAc	p.G249D	RP4-559A3.7_ENST00000432920.2_Missense_Mutation_p.G175D|PYCR2_ENST00000478402.1_5'UTR	NM_013328.2	NP_037460.2	Q96C36	P5CR2_HUMAN	pyrroline-5-carboxylate reductase family, member 2	249					L-proline biosynthetic process (GO:0055129)	cytoplasm (GO:0005737)	pyrroline-5-carboxylate reductase activity (GO:0004735)			kidney(1)|lung(3)	4	Breast(184;0.197)				L-Proline(DB00172)	AGAGCGGAAGCCCCCACTCTC	0.592																																						ENST00000343818.6																			0				kidney(1)|lung(3)	4						c.(745-747)gGc>gAc		pyrroline-5-carboxylate reductase family, member 2	L-Proline(DB00172)|NADH(DB00157)						58.0	61.0	60.0					1																	226108959		2203	4300	6503	SO:0001583	missense	29920				proline biosynthetic process	cytoplasm	binding|pyrroline-5-carboxylate reductase activity	g.chr1:226108959C>T	AF151351	CCDS31043.1, CCDS73039.1	1q42.13	2008-02-05			ENSG00000143811	ENSG00000143811			30262	protein-coding gene	gene with protein product						12477932	Standard	NM_013328		Approved	P5CR2	uc001hpq.4	Q96C36	OTTHUMG00000037506	ENST00000343818.6:c.746G>A	1.37:g.226108959C>T	ENSP00000342502:p.Gly249Asp		Somatic				PYCR2_ENST00000478402.1_5'UTR|RP4-559A3.7_ENST00000432920.2_Missense_Mutation_p.G175D	p.G249D	NM_013328.2	NP_037460.2	WXS	Illumina GAIIx	Phase_I	Q96C36	P5CR2_HUMAN			6	894	-	Breast(184;0.197)		249					A8K798|Q7Z515|Q9Y5J4	Missense_Mutation	SNP	ENST00000343818.6	37	c.746G>A	CCDS31043.1	.	.	.	.	.	.	.	.	.	.	c	24.8	4.572638	0.86542	.	.	ENSG00000255835;ENSG00000143811;ENSG00000143811	ENST00000432920;ENST00000343818;ENST00000316940	D;D	0.85556	-2.0;-2.0	5.34	5.34	0.76211	6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.000000	0.85682	D	0.000000	D	0.91513	0.7320	M	0.66506	2.035	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.995;1.0;1.0	D	0.92126	0.5708	10	0.87932	D	0	0.0408	16.8847	0.86072	0.0:1.0:0.0:0.0	.	175;249;248	E7EUD8;Q96C36;E7EUS9	.;P5CR2_HUMAN;.	D	175;249;248	ENSP00000414068:G175D;ENSP00000342502:G249D	ENSP00000321781:G248D	G	-	2	0	PYCR2;RP4-559A3.7	224175582	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.015000	0.70791	2.652000	0.90054	0.561000	0.74099	GGC		0.592	PYCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091314.1	NM_013328		23	24	0	0	0	1	0	23	24				
NECAP1	25977	broad.mit.edu	37	12	8248277	8248277	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr12:8248277G>A	ENST00000339754.5	+	7	835	c.757G>A	c.(757-759)Gga>Aga	p.G253R		NM_015509.3	NP_056324.2	Q8NC96	NECP1_HUMAN	NECAP endocytosis associated 1	253					endocytosis (GO:0006897)|protein transport (GO:0015031)	clathrin vesicle coat (GO:0030125)|coated pit (GO:0005905)|plasma membrane (GO:0005886)				cervix(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				Kidney(36;0.0915)		TGACTTGTGGGGAGACTTCAG	0.428																																						ENST00000339754.5																			0				cervix(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(757-759)Gga>Aga		NECAP endocytosis associated 1							106.0	99.0	101.0					12																	8248277		2203	4300	6503	SO:0001583	missense	25977				endocytosis|protein transport	clathrin coated vesicle membrane|plasma membrane		g.chr12:8248277G>A	AK074923	CCDS8589.1	12p13.31	2012-05-02			ENSG00000089818	ENSG00000089818			24539	protein-coding gene	gene with protein product		611623				14555962, 15494011	Standard	NM_015509		Approved	DKFZP566B183	uc001qtx.2	Q8NC96	OTTHUMG00000168568	ENST00000339754.5:c.757G>A	12.37:g.8248277G>A	ENSP00000341737:p.Gly253Arg		Somatic					p.G253R	NM_015509.3	NP_056324.2	WXS	Illumina GAIIx	Phase_I	Q8NC96	NECP1_HUMAN		Kidney(36;0.0915)	7	835	+			253					Q2NL73|Q5XG95|Q6NWY6|Q8N153|Q8NCB0|Q9BU52|Q9Y407	Missense_Mutation	SNP	ENST00000339754.5	37	c.757G>A	CCDS8589.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.303159	0.81136	.	.	ENSG00000089818	ENST00000545179;ENST00000339754;ENST00000540291;ENST00000540083	T;T	0.50277	1.09;0.75	4.21	4.21	0.49690	.	0.000000	0.85682	D	0.000000	T	0.66848	0.2831	M	0.78049	2.395	0.49798	D	0.999829	D	0.76494	0.999	D	0.74674	0.984	T	0.71397	-0.4605	10	0.87932	D	0	.	12.2748	0.54728	0.0:0.0:1.0:0.0	.	253	Q8NC96	NECP1_HUMAN	R	253;253;111;111	ENSP00000341737:G253R;ENSP00000439319:G111R	ENSP00000341737:G253R	G	+	1	0	NECAP1	8139544	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.809000	0.86057	2.330000	0.79161	0.585000	0.79938	GGA		0.428	NECAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400244.1	NM_015509		42	72	0	0	0	1	0	42	72				
ALOX15	246	broad.mit.edu	37	17	4536775	4536775	+	Silent	SNP	T	T	A			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr17:4536775T>A	ENST00000570836.1	-	10	1278	c.1182A>T	c.(1180-1182)cgA>cgT	p.R394R	ALOX15_ENST00000574640.1_Silent_p.R355R|ALOX15_ENST00000545513.1_Silent_p.R416R|ALOX15_ENST00000293761.3_Silent_p.R394R			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	394	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic cell clearance (GO:0043277)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|cellular response to calcium ion (GO:0071277)|cellular response to interleukin-13 (GO:0035963)|hepoxilin biosynthetic process (GO:0051122)|inflammatory response (GO:0006954)|leukotriene metabolic process (GO:0006691)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxygenase pathway (GO:0019372)|negative regulation of adaptive immune response (GO:0002820)|ossification (GO:0001503)|phosphatidylethanolamine biosynthetic process (GO:0006646)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of engulfment of apoptotic cell (GO:1901074)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arachidonate 12-lipoxygenase activity (GO:0004052)|arachidonate 15-lipoxygenase activity (GO:0050473)|eoxin A4 synthase activity (GO:0097260)|iron ion binding (GO:0005506)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)		CCAGGGTGTATCGCAGGTGGG	0.537																																						ENST00000570836.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20						c.(1180-1182)cgA>cgT		arachidonate 15-lipoxygenase	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)						71.0	72.0	72.0					17																	4536775		2203	4300	6503	SO:0001819	synonymous_variant	246				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:4536775T>A	M23892	CCDS11049.1	17p13.3	2010-09-24			ENSG00000161905	ENSG00000161905	1.13.11.33	"""Arachidonate lipoxygenases"""	433	protein-coding gene	gene with protein product		152392				1570320	Standard	NM_001140		Approved	15-LOX-1	uc002fyh.3	P16050	OTTHUMG00000090746	ENST00000570836.1:c.1182A>T	17.37:g.4536775T>A			Somatic				ALOX15_ENST00000574640.1_Silent_p.R355R|ALOX15_ENST00000545513.1_Silent_p.R416R|ALOX15_ENST00000293761.3_Silent_p.R394R	p.R394R			WXS	Illumina GAIIx	Phase_I	P16050	LOX15_HUMAN		READ - Rectum adenocarcinoma(115;0.0327)	10	1278	-			394			Lipoxygenase.		A8K2P4|B7ZA11|Q8N6R7|Q99657	Silent	SNP	ENST00000570836.1	37	c.1182A>T	CCDS11049.1																																																																																				0.537	ALOX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207487.2			31	84	0	0	0	1	0	31	84				
HAT1	8520	broad.mit.edu	37	2	172841177	172841177	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr2:172841177G>A	ENST00000264108.4	+	9	941	c.905G>A	c.(904-906)cGg>cAg	p.R302Q	SLC25A12_ENST00000472748.1_Intron|HAT1_ENST00000392584.1_Missense_Mutation_p.R217Q	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1	302					chromatin organization (GO:0006325)|chromatin silencing at telomere (GO:0006348)|DNA packaging (GO:0006323)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4 acetylation (GO:0043967)|internal protein amino acid acetylation (GO:0006475)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	H4 histone acetyltransferase activity (GO:0010485)|histone acetyltransferase activity (GO:0004402)			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			TGTTTTTCCCGGGAAAAATTA	0.353																																						ENST00000264108.4																			0				breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19						c.(904-906)cGg>cAg		histone acetyltransferase 1							71.0	70.0	70.0					2																	172841177		2203	4300	6503	SO:0001583	missense	8520				chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding	g.chr2:172841177G>A	AF030424	CCDS2245.1	2q31.2-q33.1	2011-07-01			ENSG00000128708	ENSG00000128708	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"""	4821	protein-coding gene	gene with protein product		603053				9427644	Standard	NM_003642		Approved	KAT1	uc002uhi.3	O14929	OTTHUMG00000132282	ENST00000264108.4:c.905G>A	2.37:g.172841177G>A	ENSP00000264108:p.Arg302Gln		Somatic				SLC25A12_ENST00000472748.1_Intron|HAT1_ENST00000392584.1_Missense_Mutation_p.R217Q	p.R302Q	NM_003642.3	NP_003633.1	WXS	Illumina GAIIx	Phase_I	O14929	HAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		9	941	+			302					Q49A44|Q53QF0|Q53SU4|Q6P594|Q8WWB9	Missense_Mutation	SNP	ENST00000264108.4	37	c.905G>A	CCDS2245.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.685286	0.29872	.	.	ENSG00000128708	ENST00000392584;ENST00000264108	.	.	.	5.41	3.4	0.38934	Acyl-CoA N-acyltransferase (1);	0.463917	0.24014	N	0.042354	T	0.29256	0.0728	N	0.13098	0.295	0.32053	N	0.596658	B;B	0.17268	0.021;0.012	B;B	0.04013	0.001;0.001	T	0.34601	-0.9822	9	0.87932	D	0	-17.821	9.4959	0.38989	0.0:0.4608:0.4184:0.1209	.	217;302	O14929-2;O14929	.;HAT1_HUMAN	Q	217;302	.	ENSP00000264108:R302Q	R	+	2	0	HAT1	172549423	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	1.207000	0.32333	1.359000	0.45940	0.655000	0.94253	CGG		0.353	HAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255377.1	NM_003642		5	63	0	0	0	1	0	5	63				
CYP4Z2P	163720	broad.mit.edu	37	1	47309278	47309278	+	RNA	DEL	T	T	-	rs200769572		TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr1:47309278delT	ENST00000505841.1	-	0	1352					NR_002788.2		Q8N1L4	CP4Z2_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 2, pseudogene							integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)										ACAAGATCCATTTTTTTTTCT	0.358																																						ENST00000505841.1																			0																																																			0							g.chr1:47309278delT	AY262057		1p33	2013-07-25	2013-05-03		ENSG00000154198	ENSG00000154198		"""Cytochrome P450s"""	24426	pseudogene	pseudogene						15059886	Standard	NR_002788		Approved	FLJ40054	uc031pmm.1	Q8N1L4	OTTHUMG00000008024		1.37:g.47309278delT			Somatic						NR_002788.2		WXS	Illumina GAIIx	Phase_I					0	1352	-								Q66ZJ5	RNA	DEL	ENST00000505841.1	37																																																																																						0.358	CYP4Z2P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361094.1	NR_002788		2	4						2	4	---	---	---	---
DSC1	1823	broad.mit.edu	37	18	28712574	28712574	+	Frame_Shift_Del	DEL	T	T	-			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr18:28712574delT	ENST00000257198.5	-	14	2456	c.2195delA	c.(2194-2196)aatfs	p.N732fs	RP11-408H20.3_ENST00000582307.1_RNA|RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257197.3_Frame_Shift_Del_p.N732fs	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	732					homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TACAATTAAATTTTGCTGGGC	0.343																																						ENST00000257197.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(2194-2196)aatfs		desmocollin 1							161.0	156.0	158.0					18																	28712574		2202	4299	6501	SO:0001589	frameshift_variant	1823				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	g.chr18:28712574delT	AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"""Cadherins / Major cadherins"""	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.2195delA	18.37:g.28712574delT	ENSP00000257198:p.Asn732fs		Somatic				DSC1_ENST00000257198.5_Frame_Shift_Del_p.N732fs|RP11-408H20.2_ENST00000581836.1_RNA	p.N732fs	NM_004948.3	NP_004939.1	WXS	Illumina GAIIx	Phase_I	Q08554	DSC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00778)		14	2456	-			732					Q9HB01	Frame_Shift_Del	DEL	ENST00000257198.5	37	c.2195delA	CCDS11894.1																																																																																				0.343	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421		30	55						30	55	---	---	---	---
SERPINB11	89778	broad.mit.edu	37	18	61388270	61388271	+	RNA	DEL	AC	AC	-	rs147551453		TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr18:61388270_61388271delAC	ENST00000382749.5	+	0	1019				SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000544088.1_RNA			Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				GTGCATGTTAACACACACACAC	0.386																																					Ovarian(27;496 784 5942 8975 23930)	ENST00000544088.1																			0				breast(1)|cervix(1)|kidney(1)|lung(3)	6								serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)																																						89778				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	g.chr18:61388270_61388271delAC			18q21.33	2014-02-18	2009-01-22		ENSG00000206072	ENSG00000206072		"""Serine (or cysteine) peptidase inhibitors"""	14221	protein-coding gene	gene with protein product		615682	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 11"", ""serpin peptidase inhibitor, clade B (ovalbumin), member 11"""			17562709, 24172014	Standard	XM_006722569		Approved	EPIPIN	uc002ljk.4	Q96P15	OTTHUMG00000060404		18.37:g.61388280_61388281delAC			Somatic				SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000536691.1_RNA		NM_080475.2	NP_536723.2	WXS	Illumina GAIIx	Phase_I	Q96P15	SPB11_HUMAN			0	836	+		Esophageal squamous(42;0.129)						A8K9R0|Q5Q120|Q5Q121|Q5Q122|Q5Q123|Q6ISD3|Q96P13|Q96P14	RNA	DEL	ENST00000382749.5	37																																																																																						0.386	SERPINB11-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000207392.3	NM_080475		2	4						2	4	---	---	---	---
