#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
AGMO	392636	broad.mit.edu	37	7	15458208	15458208	+	Missense_Mutation	SNP	A	A	C			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr7:15458208A>C	ENST00000342526.3	-	5	753	c.584T>G	c.(583-585)cTt>cGt	p.L195R		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	195					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						AAATTGGTAAAGAAGATTGAA	0.333																																						ENST00000342526.3																			0				breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						c.(583-585)cTt>cGt		alkylglycerol monooxygenase							37.0	44.0	42.0					7																	15458208		2199	4288	6487	SO:0001583	missense	392636				ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	g.chr7:15458208A>C		CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"""Fatty acid hydroxylase domain containing"""	33784	protein-coding gene	gene with protein product		613738	"""transmembrane protein 195"""	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.584T>G	7.37:g.15458208A>C	ENSP00000341662:p.Leu195Arg						p.L195R	NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN			5	753	-			195					A4D114|A6NCH5	Missense_Mutation	SNP	ENST00000342526.3	37	c.584T>G	CCDS34604.1	.	.	.	.	.	.	.	.	.	.	A	19.06	3.754183	0.69648	.	.	ENSG00000187546	ENST00000342526	D	0.86432	-2.12	5.8	4.63	0.57726	Fatty acid hydroxylase (1);	0.000000	0.85682	D	0.000000	D	0.94169	0.8129	M	0.90650	3.135	0.50313	D	0.999864	D	0.89917	1.0	D	0.83275	0.996	D	0.94378	0.7602	10	0.62326	D	0.03	-7.7223	13.0786	0.59100	0.8658:0.1342:0.0:0.0	.	195	Q6ZNB7	ALKMO_HUMAN	R	195	ENSP00000341662:L195R	ENSP00000341662:L195R	L	-	2	0	AGMO	15424733	1.000000	0.71417	0.952000	0.39060	0.984000	0.73092	8.483000	0.90442	0.996000	0.38943	0.482000	0.46254	CTT		0.333	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326049.2	NM_001004320		7	19	0	0	0	1	0	7	19				
ATP7A	538	broad.mit.edu	37	X	77266953	77266953	+	Missense_Mutation	SNP	C	C	T	rs377714939		TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chrX:77266953C>T	ENST00000341514.6	+	9	2109	c.1954C>T	c.(1954-1956)Cgg>Tgg	p.R652W	ATP7A_ENST00000343533.5_Missense_Mutation_p.R652W|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	652					blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	AAGATGGAGACGGTCTTTTCT	0.343																																						ENST00000341514.6																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						c.(1954-1956)Cgg>Tgg		ATPase, Cu++ transporting, alpha polypeptide		C	TRP/ARG	2,3833		0,2,1630,571	146.0	139.0	141.0		1954	2.6	1.0	X		141	0,6723		0,0,2427,1869	no	missense	ATP7A	NM_000052.4	101	0,2,4057,2440	TT,TC,CC,C		0.0,0.0522,0.0189	benign	652/1501	77266953	2,10556	2203	4296	6499	SO:0001583	missense	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77266953C>T	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.1954C>T	X.37:g.77266953C>T	ENSP00000345728:p.Arg652Trp					ATP7A_ENST00000343533.5_Missense_Mutation_p.R652W|ATP7A_ENST00000350425.4_Intron	p.R652W	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN			9	2109	+			652					B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	c.1954C>T	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.547023	0.27652	5.22E-4	0.0	ENSG00000165240	ENST00000343533;ENST00000341514	D;D	0.90069	-2.61;-2.61	5.61	2.58	0.30949	.	0.484707	0.19775	N	0.106358	D	0.86247	0.5887	M	0.69185	2.1	0.21697	N	0.999588	B	0.12630	0.006	B	0.11329	0.006	T	0.77915	-0.2409	10	0.59425	D	0.04	0.1311	9.823	0.40894	0.3702:0.5124:0.1174:0.0	.	652	Q04656	ATP7A_HUMAN	W	652	ENSP00000343026:R652W;ENSP00000345728:R652W	ENSP00000345728:R652W	R	+	1	2	ATP7A	77153609	0.971000	0.33674	0.984000	0.44739	0.708000	0.40852	0.481000	0.22260	0.482000	0.27582	0.594000	0.82650	CGG		0.343	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		9	66	0	0	0	1	0	9	66				
DNAH7	56171	broad.mit.edu	37	2	196723412	196723412	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr2:196723412A>G	ENST00000312428.6	-	43	7953	c.7853T>C	c.(7852-7854)gTt>gCt	p.V2618A		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2618	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTTGCTAGCAACTTTTAATTG	0.378																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(7852-7854)gTt>gCt		dynein, axonemal, heavy chain 7							188.0	173.0	178.0					2																	196723412		1884	4109	5993	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196723412A>G	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.7853T>C	2.37:g.196723412A>G	ENSP00000311273:p.Val2618Ala						p.V2618A	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			43	7953	-			2618			Stalk (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.7853T>C	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	A	3.009	-0.204413	0.06180	.	.	ENSG00000118997	ENST00000312428	T	0.73681	-0.77	5.77	5.77	0.91146	Dynein heavy chain, coiled coil stalk (1);	0.145674	0.44902	D	0.000412	T	0.59528	0.2200	N	0.25426	0.745	0.80722	D	1	B	0.09022	0.002	B	0.12837	0.008	T	0.54906	-0.8223	10	0.12103	T	0.63	.	11.7122	0.51630	0.8677:0.0:0.0:0.1323	.	2618	Q8WXX0	DYH7_HUMAN	A	2618	ENSP00000311273:V2618A	ENSP00000311273:V2618A	V	-	2	0	DNAH7	196431657	0.776000	0.28616	0.983000	0.44433	0.377000	0.30045	2.447000	0.44917	2.194000	0.70268	0.377000	0.23210	GTT		0.378	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		6	84	0	0	0	1	0	6	84				
NOBOX	135935	broad.mit.edu	37	7	144098450	144098450	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr7:144098450G>T	ENST00000467773.1	-	4	532	c.533C>A	c.(532-534)cCc>cAc	p.P178H	NOBOX_ENST00000223140.5_Missense_Mutation_p.P93H|NOBOX_ENST00000483238.1_Missense_Mutation_p.P178H	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	178					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					CTGAGTCTGGGGCCTGGAGCG	0.617																																						ENST00000467773.1																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26						c.(532-534)cCc>cAc		NOBOX oogenesis homeobox							25.0	28.0	27.0					7																	144098450		1868	4104	5972	SO:0001583	missense	135935				cell differentiation|oogenesis	nucleus	sequence-specific DNA binding	g.chr7:144098450G>T			7q35	2011-06-20			ENSG00000106410	ENSG00000106410		"""Homeoboxes / PRD class"""	22448	protein-coding gene	gene with protein product	"""newborn ovary homeobox-encoding gene"""	610934				11804785, 16597639	Standard	NM_001080413		Approved	OG2, Og2x	uc022aoj.1	O60393	OTTHUMG00000158051	ENST00000467773.1:c.533C>A	7.37:g.144098450G>T	ENSP00000419457:p.Pro178His					NOBOX_ENST00000483238.1_Missense_Mutation_p.P178H|NOBOX_ENST00000223140.5_Missense_Mutation_p.P93H	p.P178H	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN			4	532	-	Melanoma(164;0.14)		178					A6NCD3|A8MZN5	Missense_Mutation	SNP	ENST00000467773.1	37	c.533C>A		.	.	.	.	.	.	.	.	.	.	G	13.79	2.341119	0.41498	.	.	ENSG00000106410	ENST00000483238;ENST00000467773;ENST00000223140	D;D;D	0.94046	-3.06;-3.34;-3.02	4.75	2.94	0.34122	.	0.241139	0.21440	U	0.074506	D	0.91620	0.7352	L	0.27053	0.805	0.09310	N	1	D	0.76494	0.999	P	0.61328	0.887	D	0.83682	0.0172	10	0.62326	D	0.03	-2.787	6.3166	0.21194	0.0997:0.1866:0.7137:0.0	.	178	O60393	NOBOX_HUMAN	H	178;178;93	ENSP00000419565:P178H;ENSP00000419457:P178H;ENSP00000223140:P93H	ENSP00000223140:P93H	P	-	2	0	NOBOX	143729383	0.003000	0.15002	0.002000	0.10522	0.008000	0.06430	0.821000	0.27338	0.600000	0.29862	-0.314000	0.08810	CCC		0.617	NOBOX-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000350095.1	XM_001134420		8	8	1	0	0.00307968	1	0.00316767	8	8				
TP53	7157	broad.mit.edu	37	17	7577114	7577114	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr17:7577114C>A	ENST00000269305.4	-	8	1013	c.824G>T	c.(823-825)tGt>tTt	p.C275F	TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.C275F|TP53_ENST00000445888.2_Missense_Mutation_p.C275F|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.C275F|TP53_ENST00000455263.2_Missense_Mutation_p.C275F	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	275	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7887414}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C275Y(53)|p.C275F(37)|p.0?(8)|p.C275fs*70(3)|p.?(2)|p.C275S(2)|p.C275fs*20(1)|p.L265_K305del41(1)|p.R273_C275delRVC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.A276fs*29(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGGACAGGCACAAACACGCAC	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		115	Substitution - Missense(92)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Unknown(2)	p.C275Y(53)|p.C275F(37)|p.0?(8)|p.C275fs*70(3)|p.?(2)|p.C275S(2)|p.C275fs*20(1)|p.L265_K305del41(1)|p.R273_C275delRVC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.A276fs*29(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)	lung(14)|large_intestine(13)|breast(13)|upper_aerodigestive_tract(12)|central_nervous_system(10)|haematopoietic_and_lymphoid_tissue(10)|ovary(7)|urinary_tract(6)|stomach(5)|oesophagus(5)|bone(5)|liver(5)|skin(3)|pancreas(2)|NS(2)|prostate(2)|biliary_tract(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM076568|CM951234	TP53	M		c.(823-825)tGt>tTt	Other conserved DNA damage response genes	tumor protein p53							71.0	61.0	64.0					17																	7577114		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577114C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.824G>T	17.37:g.7577114C>A	ENSP00000269305:p.Cys275Phe	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.C275F|TP53_ENST00000445888.2_Missense_Mutation_p.C275F|TP53_ENST00000455263.2_Missense_Mutation_p.C275F|TP53_ENST00000269305.4_Missense_Mutation_p.C275F	p.C275F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	956	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	275		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.824G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.536533	0.85812	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99874	-7.39;-7.39;-7.39;-7.39;-7.39;-7.39	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99883	0.9944	M	0.92738	3.34	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.998	D;D;D;D	0.97110	0.993;1.0;0.993;0.993	D	0.96317	0.9233	10	0.87932	D	0	-17.2181	15.662	0.77193	0.0:1.0:0.0:0.0	.	275;275;275;275	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	F	275;275;275;275;275;264;143	ENSP00000352610:C275F;ENSP00000269305:C275F;ENSP00000398846:C275F;ENSP00000391127:C275F;ENSP00000391478:C275F;ENSP00000425104:C143F	ENSP00000269305:C275F	C	-	2	0	TP53	7517839	1.000000	0.71417	0.999000	0.59377	0.904000	0.53231	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	TGT		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		22	2	1	0	4.35082e-09	1	4.89467e-09	22	2				
PRSS12	8492	broad.mit.edu	37	4	119216997	119216997	+	Missense_Mutation	SNP	C	C	G	rs145983533		TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr4:119216997C>G	ENST00000296498.3	-	10	2134	c.1852G>C	c.(1852-1854)Gtt>Ctt	p.V618L	PRSS12_ENST00000510903.1_5'UTR	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	618					exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						AAGCCACAAACAGATGAGAGG	0.403																																						ENST00000296498.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						c.(1852-1854)Gtt>Ctt		protease, serine, 12 (neurotrypsin, motopsin)		C	LEU/VAL	0,4406		0,0,2203	72.0	80.0	77.0		1852	5.6	0.3	4	dbSNP_134	77	1,8599	1.2+/-3.3	0,1,4299	no	missense	PRSS12	NM_003619.3	32	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	possibly-damaging	618/876	119216997	1,13005	2203	4300	6503	SO:0001583	missense	8492					membrane	scavenger receptor activity	g.chr4:119216997C>G	AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"""Serine peptidases / Serine peptidases"""	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.1852G>C	4.37:g.119216997C>G	ENSP00000296498:p.Val618Leu					PRSS12_ENST00000510903.1_5'UTR	p.V618L	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN			10	2134	-			618					Q9UP16	Missense_Mutation	SNP	ENST00000296498.3	37	c.1852G>C	CCDS3709.1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.619346	0.46736	0.0	1.16E-4	ENSG00000164099	ENST00000296498	D	0.92911	-3.13	5.64	5.64	0.86602	.	0.293233	0.37530	N	0.002050	D	0.89178	0.6641	M	0.61703	1.905	0.31319	N	0.68628	P	0.41546	0.754	B	0.32022	0.139	D	0.88339	0.2973	10	0.25106	T	0.35	.	17.8737	0.88818	0.0:1.0:0.0:0.0	.	618	P56730	NETR_HUMAN	L	618	ENSP00000296498:V618L	ENSP00000296498:V618L	V	-	1	0	PRSS12	119436445	1.000000	0.71417	0.336000	0.25522	0.816000	0.46133	2.037000	0.41174	2.664000	0.90586	0.655000	0.94253	GTT		0.403	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256516.2			32	47	0	0	0	1	0	32	47				
ZBTB21	49854	broad.mit.edu	37	21	43411755	43411755	+	Missense_Mutation	SNP	T	T	C	rs141394564		TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr21:43411755T>C	ENST00000310826.5	-	3	2633	c.2450A>G	c.(2449-2451)aAt>aGt	p.N817S	ZBTB21_ENST00000398511.3_Missense_Mutation_p.N817S|ZBTB21_ENST00000398499.1_Missense_Mutation_p.N817S|ZBTB21_ENST00000398505.3_Missense_Mutation_p.N616S|ZBTB21_ENST00000465968.1_5'UTR	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	817					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)										CACATCACCATTGTGGTCCAA	0.483																																						ENST00000310826.5																			0											c.(2449-2451)aAt>aGt		zinc finger and BTB domain containing 21		T	SER/ASN,SER/ASN,SER/ASN	0,4406		0,0,2203	108.0	94.0	99.0		2450,1847,2450	4.0	0.1	21	dbSNP_134	99	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	ZNF295	NM_001098402.1,NM_001098403.1,NM_020727.4	46,46,46	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	817/1067,616/866,817/1067	43411755	1,13005	2203	4300	6503	SO:0001583	missense	49854							g.chr21:43411755T>C	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.2450A>G	21.37:g.43411755T>C	ENSP00000308759:p.Asn817Ser					ZBTB21_ENST00000398499.1_Missense_Mutation_p.N817S|ZBTB21_ENST00000398511.3_Missense_Mutation_p.N817S|ZBTB21_ENST00000465968.1_5'UTR|ZBTB21_ENST00000398505.3_Missense_Mutation_p.N616S	p.N817S	NM_001098402.1	NP_001091872.1					3	2633	-								Q5R2W1|Q5R2W2|Q6P4R0	Missense_Mutation	SNP	ENST00000310826.5	37	c.2450A>G	CCDS13678.1	.	.	.	.	.	.	.	.	.	.	T	5.265	0.234405	0.09969	0.0	1.16E-4	ENSG00000173276	ENST00000398505;ENST00000310826;ENST00000398499;ENST00000398511	T;T;T;T	0.07216	3.44;3.21;3.21;3.21	5.2	4.03	0.46877	.	0.129751	0.49305	D	0.000142	T	0.09905	0.0243	M	0.61703	1.905	0.36097	D	0.843883	P;P	0.44241	0.739;0.829	B;B	0.37601	0.164;0.254	T	0.25572	-1.0128	10	0.33940	T	0.23	-11.3573	11.9768	0.53096	0.0:0.0:0.1786:0.8214	.	616;817	Q9ULJ3-2;Q9ULJ3	.;ZN295_HUMAN	S	616;817;817;817	ENSP00000381517:N616S;ENSP00000308759:N817S;ENSP00000381512:N817S;ENSP00000381523:N817S	ENSP00000308759:N817S	N	-	2	0	ZNF295	42284824	1.000000	0.71417	0.080000	0.20451	0.105000	0.19272	4.374000	0.59543	0.866000	0.35629	0.460000	0.39030	AAT		0.483	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195308.1	NM_020727		5	78	0	0	0	1	0	5	78				
CROCCP2	84809	broad.mit.edu	37	1	16952974	16952974	+	lincRNA	SNP	C	C	G			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr1:16952974C>G	ENST00000412962.1	-	0	642							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											AGAGCTCGAGCTCCATGCGGC	0.622																																						ENST00000412962.1																			0																																																			0							g.chr1:16952974C>G	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16952974C>G														0	642	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.622	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		6	27	0	0	0	1	0	6	27				
RAD54L	8438	broad.mit.edu	37	1	46736447	46736447	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr1:46736447A>G	ENST00000371975.4	+	10	1833	c.1159A>G	c.(1159-1161)Att>Gtt	p.I387V	RAD54L_ENST00000442598.1_Missense_Mutation_p.I387V|RAD54L_ENST00000473251.1_3'UTR	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	387					chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		GCTCACCAGCATTGTGAATAG	0.512								Direct reversal of damage;Homologous recombination																														ENST00000371975.4																			0				breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25						c.(1159-1161)Att>Gtt	Direct reversal of damage;Homologous recombination	RAD54-like (S. cerevisiae)							74.0	70.0	71.0					1																	46736447		2203	4300	6503	SO:0001583	missense	8438				meiosis	nucleus	ATP binding|DNA binding|helicase activity	g.chr1:46736447A>G	X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"""RAD54 (S.cerevisiae)-like"""			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.1159A>G	1.37:g.46736447A>G	ENSP00000361043:p.Ile387Val					RAD54L_ENST00000442598.1_Missense_Mutation_p.I387V	p.I387V	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)	10	1833	+	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)	387					Q5TE31|Q6IUY3	Missense_Mutation	SNP	ENST00000371975.4	37	c.1159A>G	CCDS532.1	.	.	.	.	.	.	.	.	.	.	A	10.63	1.404030	0.25291	.	.	ENSG00000085999	ENST00000442598;ENST00000371975;ENST00000535499	D;D	0.92965	-3.14;-3.14	5.71	3.35	0.38373	SNF2-related (1);	0.209736	0.48286	N	0.000189	D	0.83510	0.5270	N	0.20845	0.615	0.80722	D	1	B;B	0.10296	0.003;0.002	B;B	0.11329	0.005;0.006	T	0.76165	-0.3059	10	0.35671	T	0.21	-8.6163	8.0864	0.30775	0.7644:0.0:0.2356:0.0	.	207;387	G3V1N0;Q92698	.;RAD54_HUMAN	V	387;387;207	ENSP00000396113:I387V;ENSP00000361043:I387V	ENSP00000361043:I387V	I	+	1	0	RAD54L	46509034	1.000000	0.71417	0.992000	0.48379	0.638000	0.38207	2.488000	0.45276	0.980000	0.38523	0.460000	0.39030	ATT		0.512	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1	NM_003579		3	54	0	0	0	1	0	3	54				
C9orf3	84909	broad.mit.edu	37	9	97522482	97522482	+	Missense_Mutation	SNP	T	T	A			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr9:97522482T>A	ENST00000375315.2	+	1	417	c.417T>A	c.(415-417)agT>agA	p.S139R	C9orf3_ENST00000277198.2_Missense_Mutation_p.S139R|C9orf3_ENST00000297979.5_Missense_Mutation_p.S139R	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	139					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		ATCATGGGAGTGAGGATTTTT	0.423																																						ENST00000375315.2																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(415-417)agT>agA		chromosome 9 open reading frame 3							225.0	224.0	224.0					9																	97522482		2203	4300	6503	SO:0001583	missense	84909				leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr9:97522482T>A	AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.417T>A	9.37:g.97522482T>A	ENSP00000364464:p.Ser139Arg					C9orf3_ENST00000297979.5_Missense_Mutation_p.S139R|C9orf3_ENST00000277198.2_Missense_Mutation_p.S139R	p.S139R	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.000275)	1	417	+			139					Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Missense_Mutation	SNP	ENST00000375315.2	37	c.417T>A	CCDS55328.1	.	.	.	.	.	.	.	.	.	.	T	5.929	0.355401	0.11239	.	.	ENSG00000148120	ENST00000277198;ENST00000297979;ENST00000375315;ENST00000427193	T;T;T;T	0.23348	2.71;2.7;2.9;1.91	4.78	2.28	0.28536	.	0.494379	0.22446	N	0.059955	T	0.19565	0.0470	L	0.59436	1.845	0.26316	N	0.977756	B;B;B;B	0.21753	0.0;0.06;0.001;0.0	B;B;B;B	0.16722	0.001;0.016;0.001;0.002	T	0.19549	-1.0302	10	0.32370	T	0.25	-0.144	2.4531	0.04523	0.1741:0.0921:0.1274:0.6064	.	139;139;139;139	Q8N6M6;Q8N6M6-4;Q8N6M6-2;Q8N6M6-3	AMPO_HUMAN;.;.;.	R	139;139;139;13	ENSP00000277198:S139R;ENSP00000297979:S139R;ENSP00000364464:S139R;ENSP00000387736:S13R	ENSP00000277198:S139R	S	+	3	2	C9orf3	96562303	1.000000	0.71417	0.996000	0.52242	0.699000	0.40488	1.125000	0.31332	0.355000	0.24131	0.460000	0.39030	AGT		0.423	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032823		8	242	0	0	0	1	0	8	242				
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		679	Substitution - Missense(678)|Complex - compound substitution(1)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)Cgt>Tgt		isocitrate dehydrogenase 1 (NADP+), soluble							81.0	74.0	76.0					2																	209113113		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113113G>A		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>T	2.37:g.209113113G>A	ENSP00000390265:p.Arg132Cys					IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C	p.R132C			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	775	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.394C>T	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550898	0.86127	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.94049	0.8093	H	0.99379	4.54	0.80722	D	1	B	0.29862	0.259	B	0.31245	0.126	D	0.94048	0.7315	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	C	132	ENSP00000260985:R132C;ENSP00000410513:R132C;ENSP00000390265:R132C;ENSP00000391075:R132C	ENSP00000260985:R132C	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			13	43	0	0	0	1	0	13	43				
MATN2	4147	broad.mit.edu	37	8	98943201	98943201	+	Missense_Mutation	SNP	C	C	T	rs199853259		TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr8:98943201C>T	ENST00000520016.1	+	2	287	c.163C>T	c.(163-165)Cgg>Tgg	p.R55W	MATN2_ENST00000521689.1_Missense_Mutation_p.R55W|MATN2_ENST00000522025.2_Intron|MATN2_ENST00000254898.5_Missense_Mutation_p.R55W|MATN2_ENST00000524308.1_Missense_Mutation_p.R55W			O00339	MATN2_HUMAN	matrilin 2	55						proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			TGAGAACAAGCGGGCAGACCT	0.493																																						ENST00000254898.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31						c.(163-165)Cgg>Tgg		matrilin 2							52.0	49.0	50.0					8																	98943201		1960	4162	6122	SO:0001583	missense	4147					proteinaceous extracellular matrix	calcium ion binding	g.chr8:98943201C>T	U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.163C>T	8.37:g.98943201C>T	ENSP00000430487:p.Arg55Trp					MATN2_ENST00000520016.1_Missense_Mutation_p.R55W|MATN2_ENST00000521689.1_Missense_Mutation_p.R55W|MATN2_ENST00000522025.2_Intron|MATN2_ENST00000524308.1_Missense_Mutation_p.R55W	p.R55W	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.244)		3	394	+	Breast(36;1.43e-06)		55					A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Missense_Mutation	SNP	ENST00000520016.1	37	c.163C>T	CCDS55264.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.255635	0.80135	.	.	ENSG00000132561	ENST00000521689;ENST00000254898;ENST00000378716;ENST00000524308;ENST00000520016	T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15	5.64	4.76	0.60689	von Willebrand factor, type A (1);	0.245698	0.28583	N	0.014837	T	0.79907	0.4527	L	0.38175	1.15	0.41888	D	0.990353	D;D;D	0.76494	0.985;0.996;0.999	P;P;P	0.55824	0.785;0.614;0.614	T	0.82554	-0.0399	10	0.72032	D	0.01	-13.6279	15.8566	0.78983	0.1368:0.8631:0.0:0.0	.	55;55;55	O00339-2;O00339;Q8N2G3	.;MATN2_HUMAN;.	W	55	ENSP00000429977:R55W;ENSP00000254898:R55W;ENSP00000430221:R55W;ENSP00000430487:R55W	ENSP00000254898:R55W	R	+	1	2	MATN2	99012377	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.815000	0.55651	1.370000	0.46153	-0.293000	0.09583	CGG		0.493	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1			4	19	0	0	0	1	0	4	19				
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr17:45128792G>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AATTCAGGTTGTCAGAATGCA	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128792G>T																													17.37:g.45128792G>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			3	51	1	0	0.004672	1	0.004672	3	51				
STAR	6770	broad.mit.edu	37	8	38003533	38003533	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr8:38003533C>G	ENST00000276449.4	-	5	1044	c.598G>C	c.(598-600)Gct>Cct	p.A200P	RP11-90P5.2_ENST00000520598.1_RNA	NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein	200	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				bile acid biosynthetic process (GO:0006699)|biphenyl metabolic process (GO:0018879)|brain development (GO:0007420)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth hormone stimulus (GO:0071378)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-alpha (GO:0035457)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to luteinizing hormone stimulus (GO:0071373)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cholesterol metabolic process (GO:0008203)|circadian sleep/wake cycle, REM sleep (GO:0042747)|dibenzo-p-dioxin metabolic process (GO:0018894)|diterpenoid metabolic process (GO:0016101)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|glucocorticoid metabolic process (GO:0008211)|insecticide metabolic process (GO:0017143)|intracellular cholesterol transport (GO:0032367)|male gonad development (GO:0008584)|negative regulation of neuron apoptotic process (GO:0043524)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of gene expression (GO:0010628)|positive regulation of neurogenesis (GO:0050769)|progesterone biosynthetic process (GO:0006701)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of steroid biosynthetic process (GO:0050810)|response to activity (GO:0014823)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to hydrogen peroxide (GO:0042542)|response to ionizing radiation (GO:0010212)|response to lead ion (GO:0010288)|response to leptin (GO:0044321)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytosol (GO:0005829)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	cholesterol binding (GO:0015485)			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		GCCATGCCAGCCAGCACACAG	0.622																																						ENST00000276449.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						c.(598-600)Gct>Cct		steroidogenic acute regulatory protein							58.0	60.0	60.0					8																	38003533		2203	4300	6503	SO:0001583	missense	6770				C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity	g.chr8:38003533C>G	BC010550	CCDS6102.1	8p11.2	2011-09-13	2007-05-15		ENSG00000147465	ENSG00000147465		"""StAR-related lipid transfer (START) domain containing"""	11359	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 1"""	600617	"""steroidogenic acute regulator"""			7761400	Standard	NM_000349		Approved	StAR, STARD1	uc003xkv.1	P49675	OTTHUMG00000164058	ENST00000276449.4:c.598G>C	8.37:g.38003533C>G	ENSP00000276449:p.Ala200Pro						p.A200P	NM_000349.2	NP_000340.2	P49675	STAR_HUMAN		READ - Rectum adenocarcinoma(644;0.188)	5	1044	-	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)	200			START.		Q16396	Missense_Mutation	SNP	ENST00000276449.4	37	c.598G>C	CCDS6102.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.274099|5.274099	0.95459|0.95459	.|.	.|.	ENSG00000147465|ENSG00000147465	ENST00000276449;ENST00000522753|ENST00000522050	T|.	0.80304|.	-1.36|.	5.99|5.99	5.99|5.99	0.97316|0.97316	Lipid-binding START (3);START-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86711|0.86711	0.5998|0.5998	M|M	0.91196|0.91196	3.185|3.185	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.76071|.	0.987;0.987|.	D|D	0.88051|0.88051	0.2787|0.2787	10|5	0.72032|.	D|.	0.01|.	-14.2422|-14.2422	20.4777|20.4777	0.99188|0.99188	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	162;200|.	E7ETA9;P49675|.	.;STAR_HUMAN|.	P|C	200;162|178	ENSP00000276449:A200P|.	ENSP00000276449:A200P|.	A|W	-|-	1|3	0|0	STAR|STAR	38122690|38122690	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.928000|0.928000	0.56348|0.56348	7.242000|7.242000	0.78210|0.78210	2.840000|2.840000	0.97914|0.97914	0.655000|0.655000	0.94253|0.94253	GCT|TGG		0.622	STAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376990.2	NM_000349		11	31	0	0	0	1	0	11	31				
TCEAL1	9338	broad.mit.edu	37	X	102885053	102885053	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chrX:102885053A>G	ENST00000372625.3	+	3	373	c.209A>G	c.(208-210)cAg>cGg	p.Q70R	TCEAL1_ENST00000372626.3_Missense_Mutation_p.Q70R|TCEAL1_ENST00000469820.1_3'UTR|TCEAL1_ENST00000372624.3_Missense_Mutation_p.Q70R	NM_001006639.1|NM_004780.2	NP_001006640.1|NP_004771.2	Q15170	TCAL1_HUMAN	transcription elongation factor A (SII)-like 1	68	Arg/Ser-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			ovary(1)	1						CGCCCTCCGCAGGAGGGTCTT	0.572																																						ENST00000372625.3																			0				ovary(1)	1						c.(208-210)cAg>cGg		transcription elongation factor A (SII)-like 1							37.0	39.0	39.0					X																	102885053		2203	4298	6501	SO:0001583	missense	9338				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity	g.chrX:102885053A>G	M99701	CCDS35358.1	Xq22.1	2014-03-21			ENSG00000172465	ENSG00000172465			11616	protein-coding gene	gene with protein product		300237				8206389, 7971997, 16221301	Standard	NM_004780		Approved	p21, pp21, SIIR, P21, WEX9	uc004eku.3	Q15170	OTTHUMG00000022699	ENST00000372625.3:c.209A>G	X.37:g.102885053A>G	ENSP00000361708:p.Gln70Arg					TCEAL1_ENST00000372626.3_Missense_Mutation_p.Q70R|TCEAL1_ENST00000372624.3_Missense_Mutation_p.Q70R|TCEAL1_ENST00000469820.1_3'UTR	p.Q70R	NM_001006639.1|NM_004780.2	NP_001006640.1|NP_004771.2	Q15170	TCAL1_HUMAN			3	373	+			68			Arg/Ser-rich.		Q9UJQ9	Missense_Mutation	SNP	ENST00000372625.3	37	c.209A>G	CCDS35358.1	.	.	.	.	.	.	.	.	.	.	A	13.26	2.184230	0.38609	.	.	ENSG00000172465	ENST00000372626;ENST00000537029;ENST00000372625;ENST00000372624	T;T;T	0.47177	0.85;0.85;0.85	4.3	-4.29	0.03721	.	0.683044	0.12887	N	0.430909	T	0.26340	0.0643	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.17048	-1.0382	9	0.59425	D	0.04	-6.9877	0.3998	0.00424	0.3601:0.1319:0.2466:0.2614	.	70	Q15170-2	.	R	70;67;70;70	ENSP00000361709:Q70R;ENSP00000361708:Q70R;ENSP00000361707:Q70R	ENSP00000361707:Q70R	Q	+	2	0	TCEAL1	102771709	0.151000	0.22747	0.003000	0.11579	0.881000	0.50899	0.083000	0.14871	-1.060000	0.03189	0.486000	0.48141	CAG		0.572	TCEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058903.1	NM_004780		26	7	0	0	0	1	0	26	7				
ARID2	196528	broad.mit.edu	37	12	46246183	46246183	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr12:46246183C>A	ENST00000334344.6	+	15	4449	c.4277C>A	c.(4276-4278)tCa>tAa	p.S1426*	ARID2_ENST00000444670.1_Nonsense_Mutation_p.S1036*|ARID2_ENST00000457135.1_Nonsense_Mutation_p.S34*|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Nonsense_Mutation_p.S1277*	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1426					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|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)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTGGGTGGTTCATCTGTGAGC	0.403			"""N, S, F"""		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"""N, S, F"""	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(4276-4278)tCa>tAa		AT rich interactive domain 2 (ARID, RFX-like)							100.0	101.0	101.0					12																	46246183		2203	4300	6503	SO:0001587	stop_gained	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46246183C>A		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.4277C>A	12.37:g.46246183C>A	ENSP00000335044:p.Ser1426*					ARID2_ENST00000422737.1_Nonsense_Mutation_p.S1277*|ARID2_ENST00000444670.1_Nonsense_Mutation_p.S1036*|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000457135.1_Nonsense_Mutation_p.S34*	p.S1426*	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	4449	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	1426					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Nonsense_Mutation	SNP	ENST00000334344.6	37	c.4277C>A	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	C	44	11.104993	0.99516	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670;ENST00000457135	.	.	.	6.07	6.07	0.98685	.	0.071831	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.4708	18.8245	0.92111	0.0:1.0:0.0:0.0	.	.	.	.	X	1426;543;543;1277;1036;34	.	ENSP00000335044:S1426X	S	+	2	0	ARID2	44532450	0.974000	0.33945	0.972000	0.41901	0.994000	0.84299	2.805000	0.47939	2.884000	0.98904	0.655000	0.94253	TCA		0.403	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		8	96	1	0	1.06961e-07	1	1.16685e-07	8	96				
PTX3	5806	broad.mit.edu	37	3	157154853	157154853	+	Splice_Site	SNP	G	G	A			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr3:157154853G>A	ENST00000295927.3	+	1	275		c.e1+1		VEPH1_ENST00000392832.2_Intron|VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000543418.1_Intron|VEPH1_ENST00000362010.2_Intron	NM_002852.3	NP_002843.2	P26022	PTX3_HUMAN	pentraxin 3, long						inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of exo-alpha-sialidase activity (GO:1903016)|negative regulation of glycoprotein metabolic process (GO:1903019)|negative regulation of viral entry into host cell (GO:0046597)|opsonization (GO:0008228)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phagocytosis (GO:0050766)|response to yeast (GO:0001878)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	(1->3)-beta-D-glucan binding (GO:0001872)|complement component C1q binding (GO:0001849)|virion binding (GO:0046790)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)	10			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			ACTGAGGACCGTAAGTTCACT	0.423																																						ENST00000295927.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)	10						c.e1+1		pentraxin 3, long							199.0	186.0	190.0					3																	157154853		2203	4300	6503	SO:0001630	splice_region_variant	5806				inflammatory response	extracellular region		g.chr3:157154853G>A	X63613	CCDS3180.1	3q25	2010-03-11	2010-03-11		ENSG00000163661	ENSG00000163661			9692	protein-coding gene	gene with protein product		602492	"""pentaxin-related gene, rapidly induced by IL-1 beta"", ""tumor necrosis factor, alpha-induced protein 5"", ""pentraxin-related gene, rapidly induced by IL-1 beta"""	TNFAIP5		1429570	Standard	NM_002852		Approved	TSG-14	uc003fbl.4	P26022	OTTHUMG00000158750	ENST00000295927.3:c.130+1G>A	3.37:g.157154853G>A						VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000362010.2_Intron|VEPH1_ENST00000543418.1_Intron|VEPH1_ENST00000392832.2_Intron		NM_002852.3	NP_002843.2	P26022	PTX3_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		1	275	+								B2R6T6|Q38M82	Splice_Site	SNP	ENST00000295927.3	37		CCDS3180.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688077	0.68271	.	.	ENSG00000163661	ENST00000295927	.	.	.	4.99	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4826	0.84162	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTX3	158637547	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.929000	0.70096	2.322000	0.78497	0.455000	0.32223	.		0.423	PTX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352028.1	NM_002852	Intron	4	158	0	0	0	1	0	4	158				
IRF4	3662	broad.mit.edu	37	6	394869	394869	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr6:394869G>T	ENST00000380956.4	+	3	391	c.265G>T	c.(265-267)Gac>Tac	p.D89Y	IRF4_ENST00000495137.1_3'UTR	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	89					cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		CGACAAGCCGGACCCTCCCAC	0.512			T	IGH@	MM																																	ENST00000380956.4				Dom	yes		6	6p25-p23	3662	T	interferon regulatory factor 4			L	IGH@		MM		0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5						c.(265-267)Gac>Tac		interferon regulatory factor 4							99.0	107.0	104.0					6																	394869		2203	4300	6503	SO:0001583	missense	3662				interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:394869G>T	U52682	CCDS4469.1	6p25-p23	2008-08-29			ENSG00000137265	ENSG00000137265			6119	protein-coding gene	gene with protein product		601900		MUM1		8921401, 18417578	Standard	NM_002460		Approved	LSIRF	uc003msz.4	Q15306	OTTHUMG00000016294	ENST00000380956.4:c.265G>T	6.37:g.394869G>T	ENSP00000370343:p.Asp89Tyr					IRF4_ENST00000495137.1_3'UTR	p.D89Y	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)	3	391	+		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)	89					Q5VUI7|Q99660	Missense_Mutation	SNP	ENST00000380956.4	37	c.265G>T	CCDS4469.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.127852	0.77549	.	.	ENSG00000137265	ENST00000380956;ENST00000412334	D	0.98192	-4.78	5.81	5.81	0.92471	Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (3);	0.042673	0.85682	D	0.000000	D	0.99221	0.9729	M	0.90425	3.115	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.995;0.998	D	0.99517	1.0957	10	0.87932	D	0	-37.1165	20.0656	0.97703	0.0:0.0:1.0:0.0	.	89;89;89	F2Z3D5;Q15306-2;Q15306	.;.;IRF4_HUMAN	Y	89;119	ENSP00000370343:D89Y	ENSP00000370343:D89Y	D	+	1	0	IRF4	339869	1.000000	0.71417	0.989000	0.46669	0.263000	0.26337	9.335000	0.96500	2.747000	0.94245	0.650000	0.86243	GAC		0.512	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043638.1			27	76	1	0	2.0833e-19	1	2.41932e-19	27	76				
SF3B1	23451	broad.mit.edu	37	2	198265653	198265653	+	Missense_Mutation	SNP	T	T	A			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr2:198265653T>A	ENST00000335508.6	-	18	2595	c.2504A>T	c.(2503-2505)gAt>gTt	p.D835V	SF3B1_ENST00000462613.1_5'Flank	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	835					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)			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)			CACAGTAGTATCAACTAACTA	0.343			Mis		myelodysplastic syndrome																																	ENST00000335508.5				Dom	yes		2	2q33.1	23451	Mis	"""splicing factor 3b, subunit 1, 155kDa"""			L			myelodysplastic syndrome		0				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.(2503-2505)gAt>gTt		splicing factor 3b, subunit 1, 155kDa							61.0	60.0	60.0					2																	198265653		2201	4299	6500	SO:0001583	missense	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198265653T>A	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.2504A>T	2.37:g.198265653T>A	ENSP00000335321:p.Asp835Val						p.D835V	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		18	2595	-			835					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.2504A>T	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.485049	0.84854	.	.	ENSG00000115524	ENST00000335508	T	0.65916	-0.18	5.77	5.77	0.91146	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78304	0.4262	M	0.80746	2.51	0.80722	D	1	P	0.52842	0.956	P	0.59825	0.864	T	0.81519	-0.0896	10	0.87932	D	0	.	16.3948	0.83586	0.0:0.0:0.0:1.0	.	835	O75533	SF3B1_HUMAN	V	835	ENSP00000335321:D835V	ENSP00000335321:D835V	D	-	2	0	SF3B1	197973898	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.924000	0.87555	2.326000	0.78906	0.533000	0.62120	GAT		0.343	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			14	26	0	0	0	1	0	14	26				
GPR110	266977	broad.mit.edu	37	6	46982425	46982425	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr6:46982425G>C	ENST00000371253.2	-	9	1134	c.919C>G	c.(919-921)Ctg>Gtg	p.L307V	GPR110_ENST00000283297.5_Missense_Mutation_p.L110V|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	307					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						ACCTTGTTCAGTTCTTCAAGC	0.522																																						ENST00000371253.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						c.(919-921)Ctg>Gtg		G protein-coupled receptor 110							122.0	95.0	104.0					6																	46982425		2203	4300	6503	SO:0001583	missense	266977				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46982425G>C	AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"""-"", ""GPCR / Class B : Orphans"""	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.919C>G	6.37:g.46982425G>C	ENSP00000360299:p.Leu307Val					GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Missense_Mutation_p.L110V	p.L307V	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN			9	1134	-			307					Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Missense_Mutation	SNP	ENST00000371253.2	37	c.919C>G	CCDS34471.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.419824	0.42918	.	.	ENSG00000153292	ENST00000371252;ENST00000371253;ENST00000283297	T;T	0.38560	1.15;1.13	6.06	3.18	0.36537	.	0.328071	0.22758	N	0.055995	T	0.21509	0.0518	M	0.71581	2.175	0.27515	N	0.951562	P	0.48294	0.908	B	0.40134	0.32	T	0.05582	-1.0876	10	0.44086	T	0.13	-3.5085	7.2689	0.26246	0.0784:0.0:0.6243:0.2972	.	307	Q5T601	GP110_HUMAN	V	307;307;110	ENSP00000360299:L307V;ENSP00000283297:L110V	ENSP00000283297:L110V	L	-	1	2	GPR110	47090384	0.956000	0.32656	1.000000	0.80357	0.226000	0.24999	0.611000	0.24268	0.856000	0.35383	0.650000	0.86243	CTG		0.522	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2	NM_153840		17	31	0	0	0	1	0	17	31				
KAT7	11143	broad.mit.edu	37	17	47888911	47888911	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr17:47888911G>A	ENST00000259021.4	+	7	1107	c.827G>A	c.(826-828)aGc>aAc	p.S276N	KAT7_ENST00000454930.2_Missense_Mutation_p.S137N|KAT7_ENST00000435742.2_Missense_Mutation_p.S90N|KAT7_ENST00000424009.2_Missense_Mutation_p.S246N|KAT7_ENST00000503935.2_Missense_Mutation_p.S120N|KAT7_ENST00000510819.1_Missense_Mutation_p.S107N|KAT7_ENST00000509773.1_Missense_Mutation_p.S166N	NM_007067.4	NP_008998.1	O95251	KAT7_HUMAN	K(lysine) acetyltransferase 7	276					chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|histone H4-K12 acetylation (GO:0043983)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										TCTGGACTGAGCAAAGAACAG	0.378																																						ENST00000503935.2																			0											c.(358-360)aGc>aAc		K(lysine) acetyltransferase 7							62.0	66.0	65.0					17																	47888911		2203	4300	6503	SO:0001583	missense	11143				DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:47888911G>A	AF074606	CCDS11554.1, CCDS56035.1, CCDS56036.1, CCDS56037.1, CCDS56038.1	17q21.32	2013-01-10	2011-07-21	2011-07-21	ENSG00000136504	ENSG00000136504	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	17016	protein-coding gene	gene with protein product	"""histone acetyltransferase binding to ORC1"""	609880	"""MYST histone acetyltransferase 2"""	MYST2		10438470, 10930412	Standard	NM_001199155		Approved	HBOA, HBO1, ZC2HC7	uc002ipm.3	O95251	OTTHUMG00000161770	ENST00000259021.4:c.827G>A	17.37:g.47888911G>A	ENSP00000259021:p.Ser276Asn					KAT7_ENST00000454930.2_Missense_Mutation_p.S137N|KAT7_ENST00000435742.2_Missense_Mutation_p.S90N|KAT7_ENST00000424009.2_Missense_Mutation_p.S246N|KAT7_ENST00000509773.1_Missense_Mutation_p.S166N|KAT7_ENST00000510819.1_Missense_Mutation_p.S107N|KAT7_ENST00000259021.4_Missense_Mutation_p.S276N	p.S120N			O95251	MYST2_HUMAN			7	1395	+			276					B3KN74|B4DF85|B4DFB4|B4DFE0|B4DGY4|E7ER15|G5E9K7	Missense_Mutation	SNP	ENST00000259021.4	37	c.359G>A	CCDS11554.1	.	.	.	.	.	.	.	.	.	.	G	13.64	2.298046	0.40694	.	.	ENSG00000136504	ENST00000259021;ENST00000454930;ENST00000509773;ENST00000510819;ENST00000424009;ENST00000503935;ENST00000435742	.	.	.	5.35	5.35	0.76521	.	0.287708	0.42964	D	0.000627	T	0.28830	0.0715	N	0.04203	-0.255	0.38795	D	0.955065	B;B;B;B;B;B	0.09022	0.0;0.001;0.001;0.002;0.0;0.001	B;B;B;B;B;B	0.06405	0.0;0.001;0.001;0.002;0.0;0.0	T	0.19063	-1.0317	9	0.11182	T	0.66	-17.4638	14.3088	0.66403	0.0:0.2588:0.7412:0.0	.	239;107;166;137;276;246	B4DGY4;B4DFE0;B4DFB4;E7ER15;O95251;G5E9K7	.;.;.;.;KAT7_HUMAN;.	N	276;137;166;107;246;120;90	.	ENSP00000259021:S276N	S	+	2	0	KAT7	45243910	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.690000	0.47001	2.941000	0.99782	0.655000	0.94253	AGC		0.378	KAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366032.1	NM_007067		9	8	0	0	0	1	0	9	8				
ANKRD50	57182	broad.mit.edu	37	4	125590192	125590192	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr4:125590192T>C	ENST00000504087.1	-	4	5277	c.4240A>G	c.(4240-4242)Att>Gtt	p.I1414V	ANKRD50_ENST00000515641.1_Missense_Mutation_p.I1235V	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1414										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						GAACCTTCAATCTGAAGCTTC	0.388																																						ENST00000504087.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						c.(4240-4242)Att>Gtt		ankyrin repeat domain 50							97.0	94.0	95.0					4																	125590192		2203	4300	6503	SO:0001583	missense	57182							g.chr4:125590192T>C	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.4240A>G	4.37:g.125590192T>C	ENSP00000425658:p.Ile1414Val					ANKRD50_ENST00000515641.1_Missense_Mutation_p.I1235V	p.I1414V	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN			4	5277	-			1414					A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	c.4240A>G	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	T	16.89	3.247059	0.59103	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.68181	-0.31;-0.26	5.35	4.14	0.48551	.	0.051802	0.85682	D	0.000000	T	0.51924	0.1703	N	0.24115	0.695	0.39632	D	0.970186	B	0.20052	0.041	B	0.13407	0.009	T	0.50276	-0.8847	10	0.49607	T	0.09	.	12.3686	0.55242	0.0:0.0:0.1409:0.8591	.	1414	Q9ULJ7	ANR50_HUMAN	V	1414;1235	ENSP00000425658:I1414V;ENSP00000425355:I1235V	ENSP00000425658:I1414V	I	-	1	0	ANKRD50	125809642	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	3.632000	0.54287	1.004000	0.39156	0.454000	0.30748	ATT		0.388	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		25	44	0	0	0	1	0	25	44				
IRGC	56269	broad.mit.edu	37	19	44223451	44223451	+	Silent	SNP	G	G	A			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr19:44223451G>A	ENST00000244314.5	+	2	940	c.741G>A	c.(739-741)tcG>tcA	p.S247S		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	247						membrane (GO:0016020)	GTP binding (GO:0005525)|hydrolase activity, acting on acid anhydrides (GO:0016817)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				GCCTGCTGTCGCTCCCCGACA	0.657																																					Colon(189;350 2037 11447 13433 38914)	ENST00000244314.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25						c.(739-741)tcG>tcA		immunity-related GTPase family, cinema							26.0	24.0	25.0					19																	44223451		2203	4300	6503	SO:0001819	synonymous_variant	56269					membrane	GTP binding|hydrolase activity, acting on acid anhydrides	g.chr19:44223451G>A	BC066939	CCDS12629.1	19q13.32	2008-02-05	2005-10-31	2005-10-31	ENSG00000124449	ENSG00000124449			28835	protein-coding gene	gene with protein product			"""immunity-related GTPase family, cinema 1"""	IRGC1		12477932	Standard	NM_019612		Approved	Iigp5, CINEMA	uc002oxh.3	Q6NXR0	OTTHUMG00000154587	ENST00000244314.5:c.741G>A	19.37:g.44223451G>A							p.S247S	NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN			2	940	+		Prostate(69;0.0435)	247					Q05BR8	Silent	SNP	ENST00000244314.5	37	c.741G>A	CCDS12629.1																																																																																				0.657	IRGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336191.1	NM_019612		6	11	0	0	0	1	0	6	11				
INTU	27152	broad.mit.edu	37	4	128621196	128621196	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr4:128621196A>G	ENST00000335251.6	+	9	1584	c.1481A>G	c.(1480-1482)gAg>gGg	p.E494G	INTU_ENST00000512995.1_3'UTR	NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	494					cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						AGTGACTTGGAGGCTGCAGAT	0.303																																						ENST00000335251.5																			0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						c.(1480-1482)gAg>gGg		inturned planar cell polarity protein							144.0	160.0	155.0					4																	128621196		2203	4300	6503	SO:0001583	missense	27152							g.chr4:128621196A>G	BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"""PDZ domain containing 6"", ""inturned planar cell polarity effector homolog (Drosophila)"""	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.1481A>G	4.37:g.128621196A>G	ENSP00000334003:p.Glu494Gly					INTU_ENST00000512995.1_3'UTR	p.E494G	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN			9	1584	+			494					A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Missense_Mutation	SNP	ENST00000335251.6	37	c.1481A>G	CCDS34061.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.256080	0.80246	.	.	ENSG00000164066	ENST00000335251;ENST00000506283	T	0.35789	1.29	5.55	5.55	0.83447	.	0.051924	0.85682	D	0.000000	T	0.59797	0.2220	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64271	-0.6447	10	0.87932	D	0	-22.0304	11.6022	0.51010	0.8668:0.0:0.0:0.1332	.	494	Q9ULD6	PDZD6_HUMAN	G	494;29	ENSP00000334003:E494G	ENSP00000334003:E494G	E	+	2	0	INTU	128840646	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.529000	0.67135	2.333000	0.79357	0.533000	0.62120	GAG		0.303	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	XM_371707		35	49	0	0	0	1	0	35	49				
SLC12A3	6559	broad.mit.edu	37	16	56906653	56906653	+	Silent	SNP	G	G	A			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr16:56906653G>A	ENST00000563236.1	+	8	1075	c.1050G>A	c.(1048-1050)tcG>tcA	p.S350S	SLC12A3_ENST00000566786.1_Silent_p.S349S|SLC12A3_ENST00000438926.2_Silent_p.S350S|SLC12A3_ENST00000262502.5_Silent_p.S349S			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	350					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TCTTCCCCTCGGCCACAGGCA	0.567																																						ENST00000438926.2																			0				breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(1048-1050)tcG>tcA		solute carrier family 12 (sodium/chloride transporter), member 3	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)						79.0	70.0	73.0					16																	56906653		2198	4300	6498	SO:0001819	synonymous_variant	0				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	g.chr16:56906653G>A		CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.1050G>A	16.37:g.56906653G>A						SLC12A3_ENST00000563236.1_Silent_p.S350S|SLC12A3_ENST00000566786.1_Silent_p.S349S|SLC12A3_ENST00000262502.5_Silent_p.S349S	p.S350S	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN			8	1079	+			350					A8MSJ2|C9JNN9	Silent	SNP	ENST00000563236.1	37	c.1050G>A	CCDS58464.1																																																																																				0.567	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1			20	24	0	0	0	1	0	20	24				
MUC5B	727897	broad.mit.edu	37	11	1266089	1266089	+	Missense_Mutation	SNP	C	C	G	rs571169815	byFrequency	TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr11:1266089C>G	ENST00000529681.1	+	31	8037	c.7979C>G	c.(7978-7980)aCa>aGa	p.T2660R	MUC5B_ENST00000447027.1_Missense_Mutation_p.T2663R|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2660	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACACCCCCACAGTGCTGACC	0.617													C|||	7	0.00139776	0.0045	0.0	5008	,	,		19506	0.0		0.001	False		,,,				2504	0.0					ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(7987-7989)aCa>aGa		mucin 5B, oligomeric mucus/gel-forming							87.0	114.0	105.0					11																	1266089		2037	4154	6191	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1266089C>G	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.7979C>G	11.37:g.1266089C>G	ENSP00000436812:p.Thr2660Arg					RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.T2660R	p.T2663R			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	8046	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2660	Missing (in Ref. 6; AAB61398).		11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.7988C>G	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	4.483	0.089464	0.08632	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.19938	2.11;2.29	2.2	1.08	0.20341	.	.	.	.	.	T	0.20659	0.0497	L	0.42245	1.32	0.09310	N	1	D;D	0.54964	0.969;0.969	P;P	0.47075	0.449;0.536	T	0.13548	-1.0505	9	0.87932	D	0	.	6.4639	0.21971	0.1968:0.6094:0.1938:0.0	.	3298;2663	A7Y9J9;E9PBJ0	.;.	R	2660;2663;2632;2675	ENSP00000436812:T2660R;ENSP00000415793:T2663R	ENSP00000343037:T2632R	T	+	2	0	MUC5B	1222665	0.585000	0.26774	0.004000	0.12327	0.035000	0.12851	1.692000	0.37731	1.214000	0.43395	0.205000	0.17691	ACA		0.617	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		6	13	0	0	0	1	0	6	13				
SDR16C5	195814	broad.mit.edu	37	8	57228684	57228684	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr8:57228684C>T	ENST00000303749.3	-	2	860	c.223G>A	c.(223-225)Gag>Aag	p.E75K	SDR16C5_ENST00000396721.2_Missense_Mutation_p.E75K|SDR16C5_ENST00000522671.1_Missense_Mutation_p.E75K	NM_138969.2	NP_620419.2	Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	75					detection of light stimulus involved in visual perception (GO:0050908)|keratinocyte proliferation (GO:0043616)|retinal metabolic process (GO:0042574)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	retinol dehydrogenase activity (GO:0004745)	p.E75K(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						TCATTCCCCTCCTTATTGATA	0.507																																						ENST00000396721.2																			1	Substitution - Missense(1)	p.E75K(1)	kidney(1)	breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						c.(223-225)Gag>Aag		short chain dehydrogenase/reductase family 16C, member 5							102.0	100.0	101.0					8																	57228684		2203	4300	6503	SO:0001583	missense	195814				detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity	g.chr8:57228684C>T		CCDS6167.1	8q12.1	2011-09-20			ENSG00000170786	ENSG00000170786	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	30311	protein-coding gene	gene with protein product		608989				12372410	Standard	NM_138969		Approved	RDHE2, RDH-E2	uc003xsy.1	Q8N3Y7	OTTHUMG00000164311	ENST00000303749.3:c.223G>A	8.37:g.57228684C>T	ENSP00000307607:p.Glu75Lys					SDR16C5_ENST00000303749.3_Missense_Mutation_p.E75K|SDR16C5_ENST00000522671.1_Missense_Mutation_p.E75K	p.E75K			Q8N3Y7	RDHE2_HUMAN			2	353	-			75					B4DGK2|Q330K3|Q8TDV9|Q96LX1	Missense_Mutation	SNP	ENST00000303749.3	37	c.223G>A	CCDS6167.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.158296	0.57368	.	.	ENSG00000170786	ENST00000396721;ENST00000303749;ENST00000522671;ENST00000538514	D;D;T	0.88277	-2.36;-2.36;0.5	5.14	4.26	0.50523	NAD(P)-binding domain (1);	0.150771	0.64402	D	0.000017	D	0.87042	0.6079	L	0.39692	1.235	0.58432	D	0.999992	B;B;B	0.31227	0.314;0.074;0.245	B;B;B	0.43575	0.198;0.139;0.424	T	0.81037	-0.1114	10	0.13470	T	0.59	.	13.8169	0.63297	0.0:0.9257:0.0:0.0743	.	75;75;75	Q8N3Y7-2;G3V145;Q8N3Y7	.;.;RDHE2_HUMAN	K	75	ENSP00000379947:E75K;ENSP00000307607:E75K;ENSP00000431010:E75K	ENSP00000307607:E75K	E	-	1	0	SDR16C5	57391238	0.996000	0.38824	0.026000	0.17262	0.395000	0.30598	3.872000	0.56085	1.181000	0.42912	-0.244000	0.11960	GAG		0.507	SDR16C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378235.1	NM_138969		5	85	0	0	0	1	0	5	85				
RUNX3	864	broad.mit.edu	37	1	25228807	25228807	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr1:25228807C>A	ENST00000308873.6	-	5	1062	c.1054G>T	c.(1054-1056)Ggg>Tgg	p.G352W	RUNX3_ENST00000399916.1_Missense_Mutation_p.G366W|RUNX3_ENST00000540420.1_Missense_Mutation_p.G259W|RUNX3_ENST00000496967.1_5'Flank|RUNX3_ENST00000338888.3_Missense_Mutation_p.G366W	NM_004350.2	NP_004341.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	352	Pro/Ser/Thr-rich.				axon guidance (GO:0007411)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|hair follicle morphogenesis (GO:0031069)|interferon-gamma production (GO:0032609)|negative regulation of cell cycle (GO:0045786)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peripheral nervous system neuron development (GO:0048935)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		CGGTCGCCCCCACTGCTGCTG	0.682																																						ENST00000399916.1																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						c.(1096-1098)Ggg>Tgg		runt-related transcription factor 3							17.0	19.0	18.0					1																	25228807		2201	4298	6499	SO:0001583	missense	864				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:25228807C>A	BC013362	CCDS257.1, CCDS30633.1	1p36	2008-02-05			ENSG00000020633	ENSG00000020633			10473	protein-coding gene	gene with protein product		600210		CBFA3		7835892	Standard	NM_001031680		Approved	AML2, PEBP2A3	uc001bjq.3	Q13761	OTTHUMG00000003316	ENST00000308873.6:c.1054G>T	1.37:g.25228807C>A	ENSP00000308051:p.Gly352Trp					RUNX3_ENST00000338888.3_Missense_Mutation_p.G366W|RUNX3_ENST00000308873.6_Missense_Mutation_p.G352W|RUNX3_ENST00000540420.1_Missense_Mutation_p.G259W	p.G366W	NM_001031680.2	NP_001026850.1	Q13761	RUNX3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)	6	1534	-		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	352			Pro/Ser/Thr-rich.		B1AJV5|Q12969|Q13760	Missense_Mutation	SNP	ENST00000308873.6	37	c.1096G>T	CCDS257.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.642577	0.67244	.	.	ENSG00000020633	ENST00000399916;ENST00000308873;ENST00000338888;ENST00000540420;ENST00000428150	T;T;T;T	0.35236	1.32;1.32;1.32;1.32	4.15	4.15	0.48705	Runx inhibition (1);	0.000000	0.85682	D	0.000000	T	0.58075	0.2097	M	0.61703	1.905	0.51012	D	0.999905	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.63795	-0.6556	10	0.87932	D	0	-11.7716	16.9933	0.86359	0.0:1.0:0.0:0.0	.	299;366;352	E9PH34;B1AJV5;Q13761	.;.;RUNX3_HUMAN	W	366;352;366;259;299	ENSP00000382800:G366W;ENSP00000308051:G352W;ENSP00000343477:G366W;ENSP00000444872:G259W	ENSP00000308051:G352W	G	-	1	0	RUNX3	25101394	1.000000	0.71417	0.913000	0.36048	0.547000	0.35210	6.625000	0.74248	2.323000	0.78572	0.462000	0.41574	GGG		0.682	RUNX3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009284.1	NM_004350		8	10	1	0	3.09899e-07	1	3.28128e-07	8	10				
SETD3	84193	broad.mit.edu	37	14	99865292	99865292	+	Silent	SNP	T	T	C			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr14:99865292T>C	ENST00000331768.5	-	13	1668	c.1509A>G	c.(1507-1509)gaA>gaG	p.E503E		NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	503					histone H3-K36 methylation (GO:0010452)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|peptidyl-lysine trimethylation (GO:0018023)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				GGTTACTCTCTTCATATTTGG	0.527																																						ENST00000331768.5																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25						c.(1507-1509)gaA>gaG		SET domain containing 3							148.0	149.0	149.0					14																	99865292		2203	4300	6503	SO:0001819	synonymous_variant	84193				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity	g.chr14:99865292T>C	AK026680	CCDS9951.1, CCDS9952.1	14q32.2	2006-02-15	2006-02-15	2006-02-15	ENSG00000183576	ENSG00000183576			20493	protein-coding gene	gene with protein product		615671	"""chromosome 14 open reading frame 154"""	C14orf154			Standard	NM_032233		Approved	FLJ23027	uc001ygc.3	Q86TU7	OTTHUMG00000028970	ENST00000331768.5:c.1509A>G	14.37:g.99865292T>C							p.E503E	NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN			13	1668	-		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)	503					A0PJU3|A5PLP0|B4DZE8|Q0VAQ2|Q659C0|Q86TU8|Q96GY9|Q9H5U5	Silent	SNP	ENST00000331768.5	37	c.1509A>G	CCDS9951.1																																																																																				0.527	SETD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072339.3	NM_032233		11	175	0	0	0	1	0	11	175				
ATR	545	broad.mit.edu	37	3	142238509	142238509	+	Splice_Site	SNP	A	A	G			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr3:142238509A>G	ENST00000350721.4	-	24	4504		c.e24+1		ATR_ENST00000383101.3_Splice_Site	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase						cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						aaGCCTACATACCTGGTATTT	0.398								Other conserved DNA damage response genes																														ENST00000350721.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.e24+1	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							83.0	83.0	83.0					3																	142238509		2203	4300	6503	SO:0001630	splice_region_variant	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142238509A>G	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.4382+1T>C	3.37:g.142238509A>G						ATR_ENST00000383101.3_Splice_Site		NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN			24	4504	-								Q59HB2|Q7KYL3|Q93051|Q9BXK4	Splice_Site	SNP	ENST00000350721.4	37		CCDS3124.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.476387	0.84640	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2312	0.73390	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATR	143721199	1.000000	0.71417	0.997000	0.53966	0.915000	0.54546	9.056000	0.93881	2.064000	0.61679	0.533000	0.62120	.		0.398	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184	Intron	12	65	0	0	0	1	0	12	65				
PROCR	10544	broad.mit.edu	37	20	33764557	33764557	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr20:33764557T>C	ENST00000216968.4	+	4	740	c.658T>C	c.(658-660)Ttc>Ctc	p.F220L	EDEM2_ENST00000540582.1_Intron	NM_006404.3	NP_006395.2	Q9UNN8	EPCR_HUMAN	protein C receptor, endothelial	220					antigen processing and presentation (GO:0019882)|blood coagulation (GO:0007596)|immune response (GO:0006955)|negative regulation of coagulation (GO:0050819)	cell surface (GO:0009986)|centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	GGTGGGCAGTTTCATCATTGC	0.567																																						ENST00000216968.4																			0				breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(658-660)Ttc>Ctc		protein C receptor, endothelial	Drotrecogin alfa(DB00055)						111.0	87.0	95.0					20																	33764557		2203	4300	6503	SO:0001583	missense	10544				antigen processing and presentation|blood coagulation|immune response	integral to plasma membrane|MHC class I protein complex	receptor activity	g.chr20:33764557T>C	L35545	CCDS13248.1	20q11.2	2010-05-04	2010-05-04		ENSG00000101000	ENSG00000101000		"""CD molecules"""	9452	protein-coding gene	gene with protein product		600646				7929370, 10518938	Standard	NM_006404		Approved	EPCR, CCD41, CD201	uc002xbt.3	Q9UNN8	OTTHUMG00000032323	ENST00000216968.4:c.658T>C	20.37:g.33764557T>C	ENSP00000216968:p.Phe220Leu					EDEM2_ENST00000540582.1_Intron	p.F220L	NM_006404.3	NP_006395.2	Q9UNN8	EPCR_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0152)		4	740	+			220					B2RC04|Q14218|Q6IB56|Q96CB3|Q9ULX1	Missense_Mutation	SNP	ENST00000216968.4	37	c.658T>C	CCDS13248.1	.	.	.	.	.	.	.	.	.	.	T	14.22	2.471372	0.43942	.	.	ENSG00000101000	ENST00000374477;ENST00000216968	T	0.05139	3.49	5.75	4.64	0.57946	.	0.334929	0.29916	N	0.010864	T	0.05227	0.0139	L	0.32530	0.975	0.36839	D	0.887297	B	0.17465	0.022	B	0.14578	0.011	T	0.36578	-0.9742	10	0.18710	T	0.47	-5.7026	8.4128	0.32653	0.0:0.0879:0.0:0.9121	.	220	Q9UNN8	EPCR_HUMAN	L	220	ENSP00000216968:F220L	ENSP00000216968:F220L	F	+	1	0	PROCR	33228218	0.999000	0.42202	1.000000	0.80357	0.979000	0.70002	1.250000	0.32850	1.009000	0.39289	0.533000	0.62120	TTC		0.567	PROCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078843.3			7	7	0	0	0	1	0	7	7				
SPRR3	6707	broad.mit.edu	37	1	152975659	152975682	+	In_Frame_Del	DEL	GAGCCAGGCTGTACCAAGGTCCCT	GAGCCAGGCTGTACCAAGGTCCCT	-	rs568163793|rs553429466|rs74134624	byFrequency	TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr1:152975659_152975682delGAGCCAGGCTGTACCAAGGTCCCT	ENST00000295367.4	+	2	205_228	c.163_186delGAGCCAGGCTGTACCAAGGTCCCT	c.(163-186)gagccaggctgtaccaaggtccctdel	p.EPGCTKVP95del	SPRR3_ENST00000542696.1_In_Frame_Del_p.EPGCTKVP87del|SPRR3_ENST00000331860.3_In_Frame_Del_p.EPGCTKVP95del	NM_001097589.1	NP_001091058.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	95	14 X 8 AA approximate tandem repeats.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAAGATTCCAGAGCCAGGCTGTACCAAGGTCCCTGAGCCAGGCT	0.562																																						ENST00000331860.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11						c.(163-186)del		small proline-rich protein 3			,	2036,1952		740,556,698					,	-1.4	0.0		dbSNP_130	70	3135,4775		852,1431,1672	no	coding,coding	SPRR3	NM_005416.2,NM_001097589.1	,	1592,1987,2370	A1A1,A1R,RR		39.6334,48.9468,43.4611	,	,		5171,6727				SO:0001651	inframe_deletion	6707				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity	g.chr1:152975659_152975682delGAGCCAGGCTGTACCAAGGTCCCT	AY118269	CCDS1033.1	1q21-q22	2008-02-05			ENSG00000163209	ENSG00000163209			11268	protein-coding gene	gene with protein product		182271				8325635	Standard	NM_005416		Approved		uc001faz.4	Q9UBC9	OTTHUMG00000013872	ENST00000295367.4:c.163_186delGAGCCAGGCTGTACCAAGGTCCCT	1.37:g.152975659_152975682delGAGCCAGGCTGTACCAAGGTCCCT	ENSP00000295367:p.Glu95_Pro102del					SPRR3_ENST00000542696.1_In_Frame_Del_p.EPGCTKVP87del|SPRR3_ENST00000295367.4_In_Frame_Del_p.EPGCTKVP95del	p.EPGCTKVP95del	NM_005416.2	NP_005407.1	Q9UBC9	SPRR3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	313_336	+	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		95			14 X 8 AA approximate tandem repeats.		A5YKK8|B2R4G8|D3DV32|O75597|Q4ZGI7|Q5T525|Q8NET7|Q9UDG3	In_Frame_Del	DEL	ENST00000295367.4	37	c.163_186delGAGCCAGGCTGTACCAAGGTCCCT	CCDS1033.1																																																																																				0.562	SPRR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000038910.1	NM_005416		7	26						7	26	---	---	---	---
FAM115C	285966	broad.mit.edu	37	7	143417404	143417405	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr7:143417404_143417405delCT	ENST00000441159.2	+	3	1318_1319	c.1252_1253delCT	c.(1252-1254)ctcfs	p.L418fs	FAM115C_ENST00000425618.2_Frame_Shift_Del_p.L137fs|FAM115C_ENST00000411497.2_Frame_Shift_Del_p.L137fs|FAM115C_ENST00000409703.3_Frame_Shift_Del_p.L254fs|FAM115C_ENST00000357344.4_Frame_Shift_Del_p.L418fs|FAM115C_ENST00000411935.1_Frame_Shift_Del_p.L254fs|FAM115C_ENST00000444908.2_Frame_Shift_Del_p.L418fs			A6NFQ2	F115C_HUMAN	family with sequence similarity 115, member C	418					hematopoietic progenitor cell differentiation (GO:0002244)					endometrium(2)|large_intestine(4)|lung(2)|prostate(1)	9						CCGCAAGGCGCTCTCTCAATTC	0.53																																						ENST00000441159.2																			0				endometrium(2)|large_intestine(4)|lung(2)|prostate(1)	9						c.(1252-1254)cfs		family with sequence similarity 115, member C			,,	39,207		18,3,102					,,	-7.1	0.0			1	22,442		10,2,220	no	frameshift,frameshift,frameshift	FAM115C	NM_173678.2,NM_001130026.2,NM_001130025.1	,,	28,5,322	A1A1,A1R,RR		4.7414,15.8537,8.5915	,,	,,		61,649				SO:0001589	frameshift_variant	285966							g.chr7:143417404_143417405delCT	AY167570	CCDS34769.1, CCDS47735.1, CCDS47735.2	7q35	2010-08-03	2008-06-12	2008-06-12	ENSG00000170379	ENSG00000170379			26878	protein-coding gene	gene with protein product			"""family with sequence similarity 139, member A"""	FAM139A			Standard	NM_173678		Approved	FLJ40722	uc003wdf.3	A6NFQ2	OTTHUMG00000153232	ENST00000441159.2:c.1252_1253delCT	7.37:g.143417408_143417409delCT	ENSP00000404265:p.Leu418fs					FAM115C_ENST00000444908.2_Frame_Shift_Del_p.L418fs|FAM115C_ENST00000425618.2_Frame_Shift_Del_p.L137fs|FAM115C_ENST00000411497.2_Frame_Shift_Del_p.L137fs|FAM115C_ENST00000357344.4_Frame_Shift_Del_p.L418fs|FAM115C_ENST00000411935.1_Frame_Shift_Del_p.L254fs|FAM115C_ENST00000409703.3_Frame_Shift_Del_p.L254fs	p.L418fs			A6NFQ2	F115C_HUMAN			3	1318_1319	+			418					B4DK02|Q14D25|Q17RQ4|Q8IWQ0|Q8NF84	Frame_Shift_Del	DEL	ENST00000441159.2	37	c.1252_1253delCT																																																																																					0.530	FAM115C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000330287.1	NM_173678		6	0						6	0	---	---	---	---
LUZP2	338645	broad.mit.edu	37	11	24936024	24936024	+	Frame_Shift_Del	DEL	A	A	-	rs140841896		TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr11:24936024delA	ENST00000336930.6	+	7	528	c.462delA	c.(460-462)tcafs	p.S154fs	LUZP2_ENST00000533227.1_Frame_Shift_Del_p.S68fs			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	154						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						CCTTACAGTCAAAAAAAATCC	0.348																																						ENST00000533227.1																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(202-204)tcfs		leucine zipper protein 2				62,4202		28,6,2098	89.0	89.0	89.0			5.5	1.0	11		89	137,8117		63,11,4053	no	frameshift	LUZP2	NM_001009909.2		91,17,6151	A1A1,A1R,RR		1.6598,1.454,1.5897			24936024	199,12319	2203	4300	6503	SO:0001589	frameshift_variant	338645					extracellular region		g.chr11:24936024delA	AL832641	CCDS31446.1, CCDS58128.1	11p14.3	2005-09-18			ENSG00000187398	ENSG00000187398			23206	protein-coding gene	gene with protein product		608178				12856284	Standard	NM_001009909		Approved		uc001mqs.3	Q86TE4	OTTHUMG00000166109	ENST00000336930.6:c.462delA	11.37:g.24936024delA	ENSP00000336817:p.Ser154fs					LUZP2_ENST00000336930.6_Frame_Shift_Del_p.S154fs	p.S68fs	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN			7	491	+			154					A2RUB8|E9PN53|Q6UXE7|Q6ZS65	Frame_Shift_Del	DEL	ENST00000336930.6	37	c.204delA	CCDS31446.1																																																																																				0.348	LUZP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387861.1	NM_001009909		7	53						7	53	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76939652	76939652	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chrX:76939652delT	ENST00000373344.5	-	9	1310	c.1096delA	c.(1096-1098)atgfs	p.M366fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.M328fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	366					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CTGGAGTTCATGTTGGCTGTG	0.373			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(1096-1098)tgfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						116.0	114.0	114.0					X																	76939652		2203	4295	6498	SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76939652delT	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.1096delA	X.37:g.76939652delT	ENSP00000362441:p.Met366fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.M328fs	p.M366fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	1310	-			366					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.1096delA	CCDS14434.1																																																																																				0.373	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		62	13						62	13	---	---	---	---
