#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
BIRC6	57448	broad.mit.edu	37	2	32693033	32693033	+	Nonsense_Mutation	SNP	C	C	G			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr2:32693033C>G	ENST00000421745.2	+	28	5768	c.5634C>G	c.(5632-5634)taC>taG	p.Y1878*		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1878					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TAGGATTTTACTATGGTCATA	0.383																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.(5632-5634)taC>taG		baculoviral IAP repeat containing 6							64.0	66.0	65.0					2																	32693033		2203	4300	6503	SO:0001587	stop_gained	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32693033C>G	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.5634C>G	2.37:g.32693033C>G	ENSP00000393596:p.Tyr1878*						p.Y1878*	NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN			28	5768	+	Acute lymphoblastic leukemia(172;0.155)		1878					Q9ULD1	Nonsense_Mutation	SNP	ENST00000421745.2	37	c.5634C>G	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	46	12.265692	0.99652	.	.	ENSG00000115760	ENST00000421745	.	.	.	5.9	4.84	0.62591	.	0.138414	0.50627	D	0.000117	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	13.6899	0.62539	0.0:0.8862:0.0:0.1138	.	.	.	.	X	1878	.	ENSP00000393596:Y1878X	Y	+	3	2	BIRC6	32546537	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.931000	0.28871	2.822000	0.97130	0.650000	0.86243	TAC		0.383	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		14	15	0	0	0	1	0	14	15				
IWS1	55677	broad.mit.edu	37	2	128262518	128262518	+	Missense_Mutation	SNP	A	A	G			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr2:128262518A>G	ENST00000295321.4	-	3	1220	c.961T>C	c.(961-963)Tcc>Ccc	p.S321P	AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_Missense_Mutation_p.S328P|IWS1_ENST00000486662.1_5'Flank	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	321	Glu-rich.				mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		TTGTGTCTGGACGCATCCTCA	0.517																																						ENST00000295321.4																			0				cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(961-963)Tcc>Ccc		IWS1 homolog (S. cerevisiae)							170.0	162.0	164.0					2																	128262518		2203	4300	6503	SO:0001583	missense	55677				transcription, DNA-dependent	nucleus	DNA binding	g.chr2:128262518A>G	AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.961T>C	2.37:g.128262518A>G	ENSP00000295321:p.Ser321Pro					IWS1_ENST00000455721.2_Missense_Mutation_p.S328P|AC010976.2_ENST00000599001.1_RNA	p.S321P	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0735)	3	1220	-	Colorectal(110;0.1)		321			Glu-rich.		Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Missense_Mutation	SNP	ENST00000295321.4	37	c.961T>C	CCDS2146.1	.	.	.	.	.	.	.	.	.	.	A	6.624	0.483560	0.12581	.	.	ENSG00000163166	ENST00000295321;ENST00000433551;ENST00000455721	T;T	0.33216	1.42;1.44	5.93	0.562	0.17290	.	0.468960	0.22044	N	0.065417	T	0.16896	0.0406	L	0.34521	1.04	0.33180	D	0.549406	B	0.06786	0.001	B	0.01281	0.0	T	0.11842	-1.0571	10	0.26408	T	0.33	-2.4549	3.1142	0.06369	0.4462:0.3279:0.1205:0.1054	.	321	Q96ST2	IWS1_HUMAN	P	321;274;328	ENSP00000295321:S321P;ENSP00000399245:S328P	ENSP00000295321:S321P	S	-	1	0	IWS1	127978988	0.159000	0.22864	0.101000	0.21167	0.227000	0.25037	0.522000	0.22909	-0.117000	0.11872	0.460000	0.39030	TCC		0.517	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254384.2	NM_017969		66	104	0	0	0	1	0	66	104				
CCDC110	256309	broad.mit.edu	37	4	186379809	186379809	+	Silent	SNP	A	A	G			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr4:186379809A>G	ENST00000307588.3	-	6	2007	c.1932T>C	c.(1930-1932)ctT>ctC	p.L644L	CCDC110_ENST00000393540.3_Silent_p.L607L|CCDC110_ENST00000507501.1_5'Flank|CCDC110_ENST00000510617.1_Silent_p.L644L	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	644						nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		ATGTTGTTTCAAGGTTGAGTT	0.338																																						ENST00000307588.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30						c.(1930-1932)ctT>ctC		coiled-coil domain containing 110							89.0	94.0	92.0					4																	186379809		2202	4296	6498	SO:0001819	synonymous_variant	256309					nucleus		g.chr4:186379809A>G	AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"""cancer/testis antigen 52"""	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.1932T>C	4.37:g.186379809A>G						CCDC110_ENST00000393540.3_Silent_p.L607L|CCDC110_ENST00000510617.1_Silent_p.L644L	p.L644L	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)	6	2007	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)	644					Q86YI9|Q8N7W0	Silent	SNP	ENST00000307588.3	37	c.1932T>C	CCDS3843.1																																																																																				0.338	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	NM_152775		7	68	0	0	0	1	0	7	68				
SPHKAP	80309	broad.mit.edu	37	2	228882283	228882283	+	Missense_Mutation	SNP	T	T	A			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr2:228882283T>A	ENST00000392056.3	-	7	3333	c.3287A>T	c.(3286-3288)tAt>tTt	p.Y1096F	SPHKAP_ENST00000344657.5_Missense_Mutation_p.Y1096F	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1096						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GCTGTTGACATAGGCCCTGGC	0.602																																						ENST00000392056.3																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(3286-3288)tAt>tTt		SPHK1 interactor, AKAP domain containing							32.0	33.0	33.0					2																	228882283		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228882283T>A		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.3287A>T	2.37:g.228882283T>A	ENSP00000375909:p.Tyr1096Phe					SPHKAP_ENST00000344657.5_Missense_Mutation_p.Y1096F	p.Y1096F	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	3333	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1096					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.3287A>T	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	T	0.752	-0.772613	0.02951	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.11063	2.81;2.81	5.55	-3.72	0.04411	.	0.752720	0.13333	N	0.395743	T	0.02342	0.0072	N	0.02539	-0.55	0.09310	N	1	B;B;B	0.12013	0.001;0.003;0.005	B;B;B	0.13407	0.003;0.001;0.009	T	0.42258	-0.9462	10	0.09843	T	0.71	.	0.7685	0.01020	0.4224:0.1477:0.2188:0.211	.	127;1096;1096	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	F	1096	ENSP00000375909:Y1096F;ENSP00000339886:Y1096F	ENSP00000339886:Y1096F	Y	-	2	0	SPHKAP	228590527	0.000000	0.05858	0.000000	0.03702	0.252000	0.25951	-0.091000	0.11146	-0.340000	0.08388	0.533000	0.62120	TAT		0.602	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		5	40	0	0	0	1	0	5	40				
YME1L1	10730	broad.mit.edu	37	10	27406652	27406652	+	Silent	SNP	A	A	C			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr10:27406652A>C	ENST00000326799.3	-	16	1891	c.1743T>G	c.(1741-1743)ccT>ccG	p.P581P	YME1L1_ENST00000376016.3_Silent_p.P524P|YME1L1_ENST00000375972.3_Silent_p.P491P	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	581					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						TTCTTCTTTCAGGCCCTAAGA	0.323																																						ENST00000326799.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1741-1743)ccT>ccG		YME1-like 1 ATPase							175.0	153.0	161.0					10																	27406652		2203	4300	6503	SO:0001819	synonymous_variant	10730				protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity	g.chr10:27406652A>C	AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"""ATPases / AAA-type"""	12843	protein-coding gene	gene with protein product		607472	"""YME1 (S.cerevisiae)-like 1"", ""YME1-like 1 (S. cerevisiae)"""			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.1743T>G	10.37:g.27406652A>C						YME1L1_ENST00000376016.3_Silent_p.P524P|YME1L1_ENST00000375972.3_Silent_p.P491P	p.P581P	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN			16	1891	-			581					B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Silent	SNP	ENST00000326799.3	37	c.1743T>G	CCDS7152.1																																																																																				0.323	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1	NM_139312		22	39	0	0	0	1	0	22	39				
MUC16	94025	broad.mit.edu	37	19	9000200	9000200	+	Missense_Mutation	SNP	G	G	C			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr19:9000200G>C	ENST00000397910.4	-	55	40760	c.40557C>G	c.(40555-40557)ttC>ttG	p.F13519L	MUC16_ENST00000380951.5_Missense_Mutation_p.F160L	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13521	SEA 10. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGTGTTCTTGAACACAGGCC	0.562																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(40555-40557)ttC>ttG		mucin 16, cell surface associated							113.0	94.0	100.0					19																	9000200		2026	4186	6212	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9000200G>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.40557C>G	19.37:g.9000200G>C	ENSP00000381008:p.Phe13519Leu					MUC16_ENST00000380951.5_Missense_Mutation_p.F160L	p.F13519L	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			55	40760	-			13521	Missing (in Ref. 3; AAK74120).		SEA 10.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.40557C>G	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	11.91|11.91	1.781119|1.781119	0.31502|0.31502	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000397910;ENST00000380951|ENST00000542240	T;T|.	0.48836|.	0.8;0.8|.	2.9|2.9	-1.28|-1.28	0.09318|0.09318	SEA (3);|.	.|.	.|.	.|.	.|.	T|.	0.50137|.	0.1598|.	M|M	0.75264|0.75264	2.295|2.295	.|.	.|.	.|.	B;P|.	0.42161|.	0.001;0.772|.	B;D|.	0.65010|.	0.007;0.931|.	T|.	0.55761|.	-0.8090|.	8|.	0.32370|.	T|.	0.25|.	-15.5012|-15.5012	5.1141|5.1141	0.14825|0.14825	0.1316:0.4103:0.4581:0.0|0.1316:0.4103:0.4581:0.0	.|.	21164;13519|.	Q8WXI7;B5ME49|.	MUC16_HUMAN;.|.	L|X	13519;160|359	ENSP00000381008:F13519L;ENSP00000370338:F160L|.	ENSP00000370338:F160L|.	F|S	-|-	3|2	2|0	MUC16|MUC16	8861200|8861200	0.153000|0.153000	0.22777|0.22777	0.043000|0.043000	0.18650|0.18650	0.078000|0.078000	0.17371|0.17371	0.507000|0.507000	0.22675|0.22675	-0.252000|-0.252000	0.09528|0.09528	-0.680000|-0.680000	0.03767|0.03767	TTC|TCA		0.562	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		26	53	0	0	0	1	0	26	53				
ZNF687	57592	broad.mit.edu	37	1	151260658	151260658	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr1:151260658C>T	ENST00000368879.2	+	2	1989	c.1891C>T	c.(1891-1893)Cct>Tct	p.P631S		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	631					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TCTGGCCTTGCCTGCCTTGGG	0.642																																						ENST00000368879.2																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32						c.(1891-1893)Cct>Tct		zinc finger protein 687							58.0	53.0	55.0					1																	151260658		2203	4300	6503	SO:0001583	missense	57592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	g.chr1:151260658C>T		CCDS992.1	1q21.2	2008-05-02			ENSG00000143373	ENSG00000143373			29277	protein-coding gene	gene with protein product		610568				10718198	Standard	NM_020832		Approved	KIAA1441	uc001exq.3	Q8N1G0	OTTHUMG00000012347	ENST00000368879.2:c.1891C>T	1.37:g.151260658C>T	ENSP00000357874:p.Pro631Ser						p.P631S	NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		2	1989	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		631					D3DV17|Q68DQ8|Q9H937|Q9P2A7	Missense_Mutation	SNP	ENST00000368879.2	37	c.1891C>T		.	.	.	.	.	.	.	.	.	.	C	0.015	-1.569101	0.00895	.	.	ENSG00000143373	ENST00000336715;ENST00000324048;ENST00000368879	T;T;T	0.00882	5.58;5.58;5.93	5.26	2.24	0.28232	.	0.228496	0.22421	N	0.060288	T	0.00144	0.0004	N	0.01576	-0.805	0.19300	N	0.999978	B;B;B	0.18310	0.01;0.0;0.027	B;B;B	0.17722	0.007;0.001;0.019	T	0.19877	-1.0292	10	0.09590	T	0.72	.	9.7155	0.40272	0.0:0.5829:0.3342:0.0829	.	631;631;631	Q8N1G0-2;Q8N1G0;F8WCX2	.;ZN687_HUMAN;.	S	631	ENSP00000336620:P631S;ENSP00000319829:P631S;ENSP00000357874:P631S	ENSP00000319829:P631S	P	+	1	0	ZNF687	149527282	0.978000	0.34361	0.924000	0.36721	0.006000	0.05464	1.258000	0.32944	0.785000	0.33685	0.655000	0.94253	CCT		0.642	ZNF687-201	KNOWN	basic	protein_coding	protein_coding		NM_020832		23	53	0	0	0	1	0	23	53				
BICD1	636	broad.mit.edu	37	12	32480574	32480574	+	Missense_Mutation	SNP	G	G	C			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr12:32480574G>C	ENST00000281474.5	+	5	1288	c.1185G>C	c.(1183-1185)aaG>aaC	p.K395N	BICD1_ENST00000548411.1_Missense_Mutation_p.K395N	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	395					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			ACGGGGAGAAGGGCCGGGACT	0.577																																						ENST00000548411.1																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(1183-1185)aaG>aaC		bicaudal D homolog 1 (Drosophila)							52.0	48.0	50.0					12																	32480574		2203	4300	6503	SO:0001583	missense	636				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton	g.chr12:32480574G>C	U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"""Bicaudal D (Drosophila) homolog 1"""			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.1185G>C	12.37:g.32480574G>C	ENSP00000281474:p.Lys395Asn					BICD1_ENST00000281474.5_Missense_Mutation_p.K395N	p.K395N	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0201)		5	1366	+	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		395					A8K2C3|F8W113|O43892|O43893	Missense_Mutation	SNP	ENST00000281474.5	37	c.1185G>C	CCDS8726.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.709391	0.48517	.	.	ENSG00000151746	ENST00000548411;ENST00000281474	T;T	0.48836	0.8;0.8	5.1	4.21	0.49690	.	0.000000	0.85682	D	0.000000	T	0.59878	0.2226	M	0.72576	2.205	0.80722	D	1	P;D	0.57257	0.902;0.979	P;P	0.60236	0.602;0.871	T	0.57734	-0.7760	10	0.23891	T	0.37	.	11.145	0.48426	0.1502:0.0:0.8498:0.0	.	395;395	F8W113;Q96G01	.;BICD1_HUMAN	N	395	ENSP00000446793:K395N;ENSP00000281474:K395N	ENSP00000281474:K395N	K	+	3	2	BICD1	32371841	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.007000	0.40883	1.279000	0.44446	0.655000	0.94253	AAG		0.577	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1	NM_001714		11	24	0	0	0	1	0	11	24				
ZNF252P	286101	broad.mit.edu	37	8	146221048	146221048	+	RNA	SNP	C	C	T			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr8:146221048C>T	ENST00000426361.2	-	0	245				RP5-1047A19.4_ENST00000530223.1_RNA	NR_023392.1				zinc finger protein 252, pseudogene											endometrium(1)	1						GCTTTCTTGCCAGAAATGATC	0.498																																						ENST00000426361.2																			0				endometrium(1)	1																																														286101							g.chr8:146221048C>T	BC019922		8q24.3	2012-10-05	2012-04-19	2012-04-19	ENSG00000196922	ENSG00000196922			13046	pseudogene	pseudogene			"""zinc finger protein 252"""	ZNF252			Standard	NR_023392		Approved		uc011llo.2		OTTHUMG00000165201		8.37:g.146221048C>T								NR_023392.1						0	245	-									RNA	SNP	ENST00000426361.2	37																																																																																						0.498	ZNF252P-008	KNOWN	basic|exp_conf	processed_transcript	pseudogene	OTTHUMT00000451422.1	NR_023392		3	0	0	0	0	1	0	3	0				
TRIM17	51127	broad.mit.edu	37	1	228596255	228596255	+	Missense_Mutation	SNP	C	C	A	rs372882465		TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr1:228596255C>A	ENST00000366697.2	-	6	2037	c.1081G>T	c.(1081-1083)Ggg>Tgg	p.G361W	RP11-245P10.4_ENST00000436779.1_RNA|TRIM11_ENST00000366699.3_5'Flank|TRIM11_ENST00000493030.2_5'Flank|TRIM11_ENST00000284551.6_5'Flank|TRIM17_ENST00000295033.3_Missense_Mutation_p.G361W|TRIM17_ENST00000366698.2_Missense_Mutation_p.G361W			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	361	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein autoubiquitination (GO:0051865)	intracellular (GO:0005622)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				AACGCGTCCCCGGTGATGTTC	0.627																																						ENST00000366697.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10						c.(1081-1083)Ggg>Tgg		tripartite motif containing 17							58.0	62.0	60.0					1																	228596255		2203	4300	6503	SO:0001583	missense	51127				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:228596255C>A	AF156271	CCDS1571.1, CCDS44327.1	1q42	2013-01-09	2011-01-25	2001-11-30	ENSG00000162931	ENSG00000162931		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	13430	protein-coding gene	gene with protein product	"""ring finger protein 16"", ""RING finger protein terf"", ""testis RING finger protein"""	606123	"""tripartite motif-containing 17"""	RNF16		9792805, 10894938	Standard	NM_016102		Approved	terf, RBCC	uc001hsv.3	Q9Y577	OTTHUMG00000039974	ENST00000366697.2:c.1081G>T	1.37:g.228596255C>A	ENSP00000355658:p.Gly361Trp					TRIM17_ENST00000295033.3_Missense_Mutation_p.G361W|RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000366698.2_Missense_Mutation_p.G361W	p.G361W			Q9Y577	TRI17_HUMAN			6	2037	-		Prostate(94;0.0724)	361			B30.2/SPRY.		B4DVJ2|Q5VST8	Missense_Mutation	SNP	ENST00000366697.2	37	c.1081G>T	CCDS1571.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.843789	0.51164	.	.	ENSG00000162931	ENST00000366697;ENST00000366698;ENST00000295033	T;T;T	0.64618	-0.11;-0.11;-0.11	4.71	4.71	0.59529	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.47455	D	0.000224	T	0.81711	0.4880	M	0.88640	2.97	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83654	0.0157	10	0.45353	T	0.12	.	15.9788	0.80091	0.0:1.0:0.0:0.0	.	361	Q9Y577	TRI17_HUMAN	W	361	ENSP00000355658:G361W;ENSP00000355659:G361W;ENSP00000295033:G361W	ENSP00000295033:G361W	G	-	1	0	TRIM17	226662878	0.990000	0.36364	0.267000	0.24556	0.270000	0.26580	5.703000	0.68340	2.531000	0.85337	0.655000	0.94253	GGG		0.627	TRIM17-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096439.2	NM_016102		17	32	1	0	9.16793e-09	1	9.69181e-09	17	32				
WT1	7490	broad.mit.edu	37	11	32450088	32450088	+	Missense_Mutation	SNP	G	G	T			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr11:32450088G>T	ENST00000379079.2	-	2	361	c.88C>A	c.(88-90)Cac>Aac	p.H30N	WT1_ENST00000332351.3_Missense_Mutation_p.H242N|WT1_ENST00000530998.1_Missense_Mutation_p.H30N|WT1_ENST00000448076.3_Missense_Mutation_p.H242N	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1	174	Pro-rich.				adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.?(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			TTGAATGAGTGGTTGGGGAAC	0.632			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																													ENST00000332351.3			yes	Rec	yes	"""Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"""	11	11p13	7490	"""D, Mis, N, F, S"""	Wilms tumour 1 gene			O	EWSR1	Wilms	"""Wilms, desmoplastic small round cell tumor"""	EWSR1/WT1(234)	1	Unknown(1)	p.?(1)	kidney(1)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533						c.(724-726)Cac>Aac		Wilms tumor 1							96.0	72.0	80.0					11																	32450088		2202	4299	6501	SO:0001583	missense	7490	Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated	adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr11:32450088G>T		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"""Zinc fingers, C2H2-type"""	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000379079.2:c.88C>A	11.37:g.32450088G>T	ENSP00000368370:p.His30Asn					WT1_ENST00000448076.3_Missense_Mutation_p.H242N|WT1_ENST00000379079.2_Missense_Mutation_p.H30N|WT1_ENST00000530998.1_Missense_Mutation_p.H30N	p.H242N	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744.3	P19544	WT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(30;0.128)		2	1008	-	Breast(20;0.247)		174					A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Missense_Mutation	SNP	ENST00000379079.2	37	c.724C>A	CCDS55751.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.009035	0.75046	.	.	ENSG00000184937	ENST00000379079;ENST00000332351;ENST00000530998;ENST00000452863;ENST00000448076	D;D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9;-1.9	5.45	4.47	0.54385	Wilm&apos (1);s tumour protein, N-terminal (1);	0.154686	0.41194	U	0.000932	T	0.79155	0.4398	L	0.38175	1.15	0.39790	D	0.972421	P;B;P;B;B	0.35033	0.481;0.25;0.481;0.237;0.123	B;B;B;B;B	0.37198	0.164;0.243;0.217;0.122;0.117	T	0.80603	-0.1309	10	0.56958	D	0.05	.	11.2474	0.49004	0.071:0.1282:0.8008:0.0	.	247;174;247;30;30	P19544-8;P19544;P19544-7;B3KSA5;P19544-6	.;WT1_HUMAN;.;.;.	N	30;242;30;242;242	ENSP00000368370:H30N;ENSP00000331327:H242N;ENSP00000435307:H30N;ENSP00000415516:H242N;ENSP00000413452:H242N	ENSP00000331327:H242N	H	-	1	0	WT1	32406664	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.153000	0.77428	2.744000	0.94065	0.561000	0.74099	CAC		0.632	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000095434.1	NM_000378		6	15	1	0	0.00198382	1	0.00198382	6	15				
CDK5RAP1	51654	broad.mit.edu	37	20	31984647	31984647	+	Missense_Mutation	SNP	G	G	A	rs370504202		TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr20:31984647G>A	ENST00000357886.4	-	2	377	c.224C>T	c.(223-225)cCt>cTt	p.P75L	CDK5RAP1_ENST00000473997.1_5'UTR|CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.P75L|CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.P75L|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.P75L|CDK5RAP1_ENST00000477105.1_Intron			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	75	CDK5 activation inhibition.				brain development (GO:0007420)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|regulation of neuron differentiation (GO:0045664)|tRNA modification (GO:0006400)	cytoplasm (GO:0005737)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						CTTCTCCTGAGGAGCTGAGGC	0.493																																						ENST00000357886.4																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						c.(223-225)cCt>cTt		CDK5 regulatory subunit associated protein 1		G	,LEU/PRO	0,4406		0,0,2203	130.0	130.0	130.0		,224	5.4	1.0	20		130	1,8599	1.2+/-3.3	0,1,4299	no	utr-5,missense	CDK5RAP1	NM_016082.3,NM_016408.2	,98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,benign	,75/588	31984647	1,13005	2203	4300	6503	SO:0001583	missense	51654				brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity	g.chr20:31984647G>A	AF152097	CCDS13219.1, CCDS63255.1	20q11.21	2012-09-20	2002-07-22	2002-07-26	ENSG00000101391	ENSG00000101391			15880	protein-coding gene	gene with protein product		608200	"""chromosome 20 open reading frame 34"""	C20orf34		10721722, 11882646, 15329498	Standard	NM_016408		Approved	CGI-05, HSPC167, C42	uc002wyy.4	Q96SZ6	OTTHUMG00000032256	ENST00000357886.4:c.224C>T	20.37:g.31984647G>A	ENSP00000350558:p.Pro75Leu					CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.P75L|CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.P75L|CDK5RAP1_ENST00000452723.3_5'UTR|CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.P75L|CDK5RAP1_ENST00000473997.1_5'UTR	p.P75L			Q96SZ6	CK5P1_HUMAN			2	377	-			75			CDK5 activation inhibition.		A8K7R0|Q5QP46|Q5QP47|Q5QP48|Q675N4|Q675N5|Q9BVG6|Q9BWZ5|Q9H859|Q9NZZ9|Q9Y3F0	Missense_Mutation	SNP	ENST00000357886.4	37	c.224C>T		.	.	.	.	.	.	.	.	.	.	G	15.31	2.794781	0.50102	0.0	1.16E-4	ENSG00000101391	ENST00000346416;ENST00000357886;ENST00000339269;ENST00000544843	.	.	.	5.42	5.42	0.78866	.	0.483231	0.24638	N	0.036832	T	0.57519	0.2059	L	0.46157	1.445	0.58432	D	0.999995	B;B;B;B;B;B	0.30634	0.0;0.288;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.32533	0.001;0.147;0.002;0.001;0.002;0.005	T	0.56697	-0.7936	9	0.45353	T	0.12	-10.688	14.5855	0.68320	0.0:0.0:1.0:0.0	.	75;75;75;75;75;75	Q675N4;Q96SZ6-4;Q96SZ6;Q675N5;Q53H36;Q96SZ6-3	.;.;CK5P1_HUMAN;.;.;.	L	75	.	ENSP00000341840:P75L	P	-	2	0	CDK5RAP1	31448308	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	2.937000	0.48979	2.826000	0.97356	0.491000	0.48974	CCT		0.493	CDK5RAP1-011	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000078697.1	NM_016408		48	64	0	0	0	1	0	48	64				
PRKAR1A	5573	broad.mit.edu	37	17	66521051	66521051	+	Splice_Site	SNP	A	A	G			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr17:66521051A>G	ENST00000589228.1	+	6	630		c.e6-1		PRKAR1A_ENST00000536854.2_Splice_Site|PRKAR1A_ENST00000588188.2_Splice_Site|PRKAR1A_ENST00000586397.1_Splice_Site|PRKAR1A_ENST00000358598.2_Splice_Site|PRKAR1A_ENST00000392711.1_Splice_Site	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha						activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cardiac muscle cell proliferation (GO:0060038)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|female meiotic division (GO:0007143)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sarcomere organization (GO:0045214)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					ACCCTCTTTTAGGTGATGAAG	0.289			"""T, Mis, N, F, S"""	RET	papillary thyroid	"""myxoma, endocrine, papillary thyroid"""			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of																												Ovarian(167;637 1670 33025 39608 46699 51856)	ENST00000589228.1			yes	"""Dom, Rec"""	yes	Carney complex	17	17q23-q24	5573	"""T, Mis, N, F, S"""	"""protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)"""			"""E, M"""	RET	"""myxoma, endocrine, papillary thyroid"""	papillary thyroid		0				adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31						c.e6-1		protein kinase, cAMP-dependent, regulatory, type I, alpha							112.0	119.0	116.0					17																	66521051		2203	4300	6503	SO:0001630	splice_region_variant	5573	Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2;Carney syndrome, NAME syndrome, LAMB syndrome, Familial Myxoma syndrome;	activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding	g.chr17:66521051A>G		CCDS11678.1, CCDS62307.1	17q24.2	2014-09-17	2012-07-31		ENSG00000108946	ENSG00000108946	2.7.11.1		9388	protein-coding gene	gene with protein product	"""Carney complex type 1"""	188830	"""tissue specific extinguisher 1"""	PRKAR1, TSE1		3479018, 10973256	Standard	NM_212471		Approved	CNC1	uc002jhg.4	P10644	OTTHUMG00000180128	ENST00000589228.1:c.503-1A>G	17.37:g.66521051A>G						PRKAR1A_ENST00000358598.2_Splice_Site|PRKAR1A_ENST00000586397.1_Splice_Site|PRKAR1A_ENST00000392711.1_Splice_Site|PRKAR1A_ENST00000536854.2_Splice_Site|PRKAR1A_ENST00000588188.2_Splice_Site		NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN			6	630	+	Breast(10;1.64e-13)							K7ER48|Q567S7	Splice_Site	SNP	ENST00000589228.1	37		CCDS11678.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.212374	0.79240	.	.	ENSG00000108946	ENST00000358598;ENST00000392711;ENST00000392710;ENST00000536854	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1973	0.82040	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRKAR1A	64032646	1.000000	0.71417	0.939000	0.37840	0.908000	0.53690	8.962000	0.93254	2.222000	0.72286	0.533000	0.62120	.		0.289	PRKAR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449884.1		Intron	56	95	0	0	0	1	0	56	95				
EPHA3	2042	broad.mit.edu	37	3	89478273	89478273	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr3:89478273G>A	ENST00000336596.2	+	12	2317	c.2092G>A	c.(2092-2094)Gtc>Atc	p.V698I	EPHA3_ENST00000494014.1_Missense_Mutation_p.V698I	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	698	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		AGTTATGATTGTCACAGAATA	0.294										TSP Lung(6;0.00050)																												ENST00000336596.2																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139						c.(2092-2094)Gtc>Atc		EPH receptor A3							103.0	108.0	107.0					3																	89478273		2203	4299	6502	SO:0001583	missense	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89478273G>A	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.2092G>A	3.37:g.89478273G>A	ENSP00000337451:p.Val698Ile	TSP Lung(6;0.00050)				EPHA3_ENST00000494014.1_Missense_Mutation_p.V698I	p.V698I	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	12	2317	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	698			Protein kinase.		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.2092G>A	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	G	8.100	0.776463	0.16120	.	.	ENSG00000044524	ENST00000336596;ENST00000494014	D;D	0.84370	-1.84;-1.84	5.68	4.81	0.61882	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.85383	0.5684	N	0.17345	0.48	0.80722	D	1	D	0.63046	0.992	D	0.72982	0.979	D	0.84664	0.0708	9	.	.	.	.	15.037	0.71754	0.0685:0.0:0.9315:0.0	.	698	P29320	EPHA3_HUMAN	I	698	ENSP00000337451:V698I;ENSP00000419190:V698I	.	V	+	1	0	EPHA3	89560963	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.841000	0.62824	1.547000	0.49401	0.591000	0.81541	GTC		0.294	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		36	57	0	0	0	1	0	36	57				
COL12A1	1303	broad.mit.edu	37	6	75893251	75893251	+	Missense_Mutation	SNP	C	C	A			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr6:75893251C>A	ENST00000322507.8	-	10	1715	c.1406G>T	c.(1405-1407)aGt>aTt	p.S469I	COL12A1_ENST00000416123.2_Missense_Mutation_p.S469I|COL12A1_ENST00000483888.2_Missense_Mutation_p.S469I|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	469	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.S469I(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AATTTCAAAACTTTTTACAAG	0.358																																						ENST00000322507.8																			1	Substitution - Missense(1)	p.S469I(1)	large_intestine(1)	breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(1405-1407)aGt>aTt		collagen, type XII, alpha 1							64.0	62.0	63.0					6																	75893251		1821	4074	5895	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75893251C>A	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.1406G>T	6.37:g.75893251C>A	ENSP00000325146:p.Ser469Ile					COL12A1_ENST00000483888.2_Missense_Mutation_p.S469I|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.S469I	p.S469I	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			10	1715	-			469			VWFA 2.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.1406G>T	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.005357	0.74932	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.79033	-1.23;-1.23;-1.23	5.49	5.49	0.81192	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.82435	0.5036	M	0.64567	1.98	0.41634	D	0.989038	D;D	0.56521	0.976;0.976	P;P	0.57057	0.812;0.812	D	0.83619	0.0138	10	0.72032	D	0.01	.	19.7404	0.96228	0.0:1.0:0.0:0.0	.	469;469	D6RGG3;Q99715	.;COCA1_HUMAN	I	469	ENSP00000325146:S469I;ENSP00000412864:S469I;ENSP00000421216:S469I	ENSP00000325146:S469I	S	-	2	0	COL12A1	75949971	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.107000	0.71517	2.734000	0.93682	0.655000	0.94253	AGT		0.358	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		36	52	1	0	4.34311e-12	1	4.72632e-12	36	52				
FAM86DP	692099	broad.mit.edu	37	3	75475709	75475709	+	RNA	SNP	T	T	C			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr3:75475709T>C	ENST00000459803.1	-	0	820					NR_024241.1				family with sequence similarity 86, member D, pseudogene									p.I261V(1)									CTCCGCAGGATCCCGACCAGC	0.562																																						ENST00000459803.1																			1	Substitution - Missense(1)	p.I261V(1)	kidney(1)																																																692099							g.chr3:75475709T>C	BC016686		3p12.3	2010-06-04	2010-06-04	2010-06-04	ENSG00000244026	ENSG00000244026			32659	pseudogene	pseudogene			"""family with sequence similarity 86, member D"""	FAM86D			Standard	NR_024241		Approved		uc003dpp.4		OTTHUMG00000158855		3.37:g.75475709T>C								NR_024241.1						0	820	-									RNA	SNP	ENST00000459803.1	37																																																																																						0.562	FAM86DP-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352425.1	NR_024241		4	53	0	0	0	1	0	4	53				
URM1	81605	broad.mit.edu	37	9	131140374	131140374	+	Missense_Mutation	SNP	A	A	T			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr9:131140374A>T	ENST00000372853.4	+	2	157	c.95A>T	c.(94-96)cAg>cTg	p.Q32L	URM1_ENST00000452446.1_Missense_Mutation_p.Q32L|URM1_ENST00000372847.1_Missense_Mutation_p.R46W|URM1_ENST00000483206.1_3'UTR|URM1_ENST00000372850.1_Missense_Mutation_p.Q32L	NM_001265582.1|NM_030914.3	NP_001252511.1|NP_112176.1			ubiquitin related modifier 1											cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	5						TTGCCTGGACAGGAGGAACCC	0.537																																						ENST00000372850.1																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	5						c.(94-96)cAg>cTg		ubiquitin related modifier 1							136.0	122.0	127.0					9																	131140374		2203	4300	6503	SO:0001583	missense	81605				tRNA thio-modification|tRNA wobble uridine modification		protein binding	g.chr9:131140374A>T	AK097029	CCDS6900.1, CCDS48035.1, CCDS59148.1	9q34.13	2010-06-24	2010-06-24	2006-11-28	ENSG00000167118	ENSG00000167118			28378	protein-coding gene	gene with protein product		612693	"""chromosome 9 open reading frame 74"", ""ubiquitin related modifier 1 homolog (S. cerevisiae)"""	C9orf74		16046629, 16864801	Standard	NM_030914		Approved	MGC2668	uc011may.2	Q9BTM9	OTTHUMG00000020742	ENST00000372853.4:c.95A>T	9.37:g.131140374A>T	ENSP00000361944:p.Gln32Leu					URM1_ENST00000372853.4_Missense_Mutation_p.Q32L|URM1_ENST00000372847.1_Missense_Mutation_p.R46W|URM1_ENST00000483206.1_3'UTR|URM1_ENST00000452446.1_Missense_Mutation_p.Q32L	p.Q32L			Q9BTM9	URM1_HUMAN			2	115	+			32						Missense_Mutation	SNP	ENST00000372853.4	37	c.95A>T	CCDS6900.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.52|12.52	1.963138|1.963138	0.34659|0.34659	.|.	.|.	ENSG00000167118|ENSG00000167118	ENST00000372853;ENST00000452446;ENST00000372850|ENST00000372847	.|.	.|.	.|.	5.33|5.33	5.33|5.33	0.75918|0.75918	Molybdopterin synthase/thiamin biosynthesis sulphur carrier, beta-grasp (1);Beta-grasp fold, ferredoxin-type (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.62962|0.62962	0.2471|0.2471	L|L	0.42245|0.42245	1.32|1.32	0.58432|0.58432	D|D	0.999999|0.999999	B;B|.	0.27559|.	0.181;0.001|.	B;B|.	0.19391|.	0.025;0.011|.	T|T	0.66598|0.66598	-0.5883|-0.5883	9|6	0.33940|0.87932	T|D	0.23|0	-9.537|-9.537	14.4826|14.4826	0.67592|0.67592	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	32;32|.	Q9BTM9-2;Q9BTM9|.	.;URM1_HUMAN|.	L|W	32|46	.|.	ENSP00000361941:Q32L|ENSP00000361938:R46W	Q|R	+|+	2|1	0|2	URM1|URM1	130180195|130180195	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.550000|0.550000	0.35303|0.35303	6.778000|6.778000	0.75043|0.75043	2.013000|2.013000	0.59113|0.59113	0.379000|0.379000	0.24179|0.24179	CAG|AGG		0.537	URM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054422.1	NM_030914		18	37	0	0	0	1	0	18	37				
FAT1	2195	broad.mit.edu	37	4	187521348	187521348	+	Missense_Mutation	SNP	G	G	T			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr4:187521348G>T	ENST00000441802.2	-	22	12016	c.11807C>A	c.(11806-11808)aCa>aAa	p.T3936K	FAT1_ENST00000512347.1_5'Flank	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3936	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CCCTGGGGCTGTGCCCGATGC	0.512										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(11806-11808)aCa>aAa		FAT atypical cadherin 1							61.0	62.0	62.0					4																	187521348		1972	4156	6128	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187521348G>T	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.11807C>A	4.37:g.187521348G>T	ENSP00000406229:p.Thr3936Lys	HNSCC(5;0.00058)					p.T3936K	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			22	12016	-			3936			Laminin G-like.			Missense_Mutation	SNP	ENST00000441802.2	37	c.11807C>A	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	8.733	0.917136	0.17907	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.77358	-1.09	4.94	4.94	0.65067	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	T	0.75613	0.3873	N	0.25890	0.77	0.80722	D	1	D	0.64830	0.994	D	0.64687	0.928	T	0.68887	-0.5290	10	0.05959	T	0.93	.	13.0748	0.59081	0.0772:0.0:0.9228:0.0	.	3936	Q14517	FAT1_HUMAN	K	3936;3938	ENSP00000406229:T3936K	ENSP00000260147:T3938K	T	-	2	0	FAT1	187758342	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	5.161000	0.64935	2.726000	0.93360	0.655000	0.94253	ACA		0.512	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		14	21	1	0	0.00185496	1	0.00190648	14	21				
ABCA2	20	broad.mit.edu	37	9	139911685	139911685	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr9:139911685G>A	ENST00000371605.3	-	17	2660	c.2513C>T	c.(2512-2514)gCg>gTg	p.A838V	ABCA2_ENST00000341511.6_Missense_Mutation_p.A839V|ABCA2_ENST00000265662.5_Missense_Mutation_p.A839V|ABCA2_ENST00000492260.1_5'Flank			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	838					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CTTATCATGCGCCACCTCCTC	0.652																																						ENST00000265662.5																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41						c.(2515-2517)gCg>gTg		ATP-binding cassette, sub-family A (ABC1), member 2							55.0	62.0	59.0					9																	139911685		2183	4267	6450	SO:0001583	missense	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139911685G>A	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.2513C>T	9.37:g.139911685G>A	ENSP00000360666:p.Ala838Val					ABCA2_ENST00000341511.6_Missense_Mutation_p.A839V|ABCA2_ENST00000371605.3_Missense_Mutation_p.A838V	p.A839V			Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	18	2663	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	838					A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	37	c.2516C>T		.	.	.	.	.	.	.	.	.	.	G	28.5	4.925831	0.92319	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	D;D;D	0.90004	-2.6;-2.6;-2.6	4.61	4.61	0.57282	.	0.195469	0.43579	N	0.000546	D	0.91663	0.7365	L	0.44542	1.39	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.67382	0.951;0.94	D	0.91575	0.5274	10	0.42905	T	0.14	.	17.4162	0.87500	0.0:0.0:1.0:0.0	.	838;869	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	V	839;838;869;839	ENSP00000265662:A839V;ENSP00000360666:A838V;ENSP00000344155:A839V	ENSP00000265662:A839V	A	-	2	0	ABCA2	139031506	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	7.658000	0.83755	2.116000	0.64780	0.313000	0.20887	GCG		0.652	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		28	26	0	0	0	1	0	28	26				
R3HDML	140902	broad.mit.edu	37	20	42965958	42965958	+	Missense_Mutation	SNP	G	G	A	rs539665398		TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr20:42965958G>A	ENST00000217043.2	+	1	333	c.161G>A	c.(160-162)cGg>cAg	p.R54Q		NM_178491.2	NP_848586.1	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like	54						extracellular region (GO:0005576)	peptidase inhibitor activity (GO:0030414)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			AGGTACCGCCGGAAGCGCCAC	0.592																																						ENST00000217043.2																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21						c.(160-162)cGg>cAg		R3H domain containing-like							59.0	55.0	56.0					20																	42965958		2203	4300	6503	SO:0001583	missense	140902					extracellular region	peptidase inhibitor activity	g.chr20:42965958G>A	BC107048	CCDS13329.1	20q13.12	2007-04-26	2005-09-02		ENSG00000101074	ENSG00000101074			16249	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing-like"""				Standard	NM_178491		Approved	dJ881L22.3	uc002xls.2	Q9H3Y0	OTTHUMG00000032524	ENST00000217043.2:c.161G>A	20.37:g.42965958G>A	ENSP00000217043:p.Arg54Gln						p.R54Q	NM_178491.2	NP_848586.1	Q9H3Y0	CRSPL_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		1	333	+		Myeloproliferative disorder(115;0.028)	54						Missense_Mutation	SNP	ENST00000217043.2	37	c.161G>A	CCDS13329.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.785016	0.31593	.	.	ENSG00000101074	ENST00000217043	T	0.09630	2.96	5.18	4.23	0.50019	CAP domain (2);	0.000000	0.85682	D	0.000000	T	0.11110	0.0271	M	0.66939	2.045	0.46823	D	0.999211	B	0.33171	0.4	B	0.20955	0.032	T	0.07578	-1.0765	10	0.12766	T	0.61	.	13.782	0.63087	0.0747:0.0:0.9253:0.0	.	54	Q9H3Y0	CRSPL_HUMAN	Q	54	ENSP00000217043:R54Q	ENSP00000217043:R54Q	R	+	2	0	R3HDML	42399372	0.893000	0.30496	0.997000	0.53966	0.204000	0.24138	1.256000	0.32921	1.181000	0.42912	0.385000	0.25706	CGG		0.592	R3HDML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079344.1	NM_178491		25	28	0	0	0	1	0	25	28				
ATP2A1	487	broad.mit.edu	37	16	28909760	28909760	+	Silent	SNP	C	C	T			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr16:28909760C>T	ENST00000357084.3	+	14	2019	c.1752C>T	c.(1750-1752)ttC>ttT	p.F584F	ATP2A1_ENST00000395503.4_Silent_p.F584F|ATP2A1_ENST00000536376.1_Silent_p.F459F	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	584					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CTGCCAGGTTCCTGGAGTATG	0.652																																						ENST00000395503.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						c.(1750-1752)ttC>ttT		ATPase, Ca++ transporting, cardiac muscle, fast twitch 1							21.0	23.0	22.0					16																	28909760		2197	4300	6497	SO:0001819	synonymous_variant	487				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	g.chr16:28909760C>T		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.1752C>T	16.37:g.28909760C>T						ATP2A1_ENST00000357084.3_Silent_p.F584F|ATP2A1_ENST00000536376.1_Silent_p.F459F	p.F584F	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN			14	1936	+			584					A8K5J9|B3KY17|O14984	Silent	SNP	ENST00000357084.3	37	c.1752C>T	CCDS10643.1																																																																																				0.652	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320		5	26	0	0	0	1	0	5	26				
TMEM8B	51754	broad.mit.edu	37	9	35853200	35853200	+	Silent	SNP	C	C	G			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr9:35853200C>G	ENST00000377991.4	+	13	2044	c.1029C>G	c.(1027-1029)ctC>ctG	p.L343L	TMEM8B_ENST00000377988.2_Silent_p.L343L	NM_001042589.2	NP_001036054.1	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B	343					cell-matrix adhesion (GO:0007160)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle (GO:0007346)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						GACATGGACTCTGGAACCTGC	0.607																																						ENST00000377988.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						c.(1027-1029)ctC>ctG		transmembrane protein 8B							134.0	134.0	134.0					9																	35853200		1994	4171	6165	SO:0001819	synonymous_variant	51754				cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle	cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane	protein binding	g.chr9:35853200C>G	BC043384	CCDS6595.1, CCDS43800.1	9p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000137103	ENSG00000137103			21427	protein-coding gene	gene with protein product	"""nasopharyngeal carcinoma expressed 6"""		"""chromosome 9 open reading frame 127"""	C9orf127		12918109, 8619474	Standard	NM_016446		Approved	NAG-5, NGX6	uc003zym.4	A6NDV4	OTTHUMG00000019885	ENST00000377991.4:c.1029C>G	9.37:g.35853200C>G						TMEM8B_ENST00000377991.4_Silent_p.L343L	p.L343L	NM_001042590.2	NP_001036055.1	A6NDV4	TMM8B_HUMAN			12	2317	+			343					B3KQF3|O75539|Q49AB1|Q4KMX5|Q5TCW5|Q9HBY2|Q9P0U7	Silent	SNP	ENST00000377991.4	37	c.1029C>G	CCDS43800.1																																																																																				0.607	TMEM8B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052388.2	NM_016446		59	79	0	0	0	1	0	59	79				
NRROS	375387	broad.mit.edu	37	3	196387237	196387237	+	Silent	SNP	C	C	T			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr3:196387237C>T	ENST00000328557.4	+	3	926	c.723C>T	c.(721-723)ttC>ttT	p.F241F		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	241					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											TGGAGTGGTTCCTCGCGACCG	0.632																																						ENST00000328557.4																			0											c.(721-723)ttC>ttT		negative regulator of reactive oxygen species							64.0	63.0	63.0					3																	196387237		2203	4300	6503	SO:0001819	synonymous_variant	375387							g.chr3:196387237C>T	AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"""leucine rich repeat containing 33"""	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.723C>T	3.37:g.196387237C>T							p.F241F	NM_198565.1	NP_940967.1					3	926	+									Silent	SNP	ENST00000328557.4	37	c.723C>T	CCDS3319.1																																																																																				0.632	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1	NM_198565		19	27	0	0	0	1	0	19	27				
CNTNAP3	79937	broad.mit.edu	37	9	39118252	39118252	+	Silent	SNP	T	T	C			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr9:39118252T>C	ENST00000297668.6	-	14	2158	c.2085A>G	c.(2083-2085)ggA>ggG	p.G695G	CNTNAP3_ENST00000323947.7_Silent_p.G601G|CNTNAP3_ENST00000377659.1_Silent_p.G694G|CNTNAP3_ENST00000358144.2_Silent_p.G607G|CNTNAP3_ENST00000377656.2_Silent_p.G694G	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	695	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TCAGTGGGGTTCCATCTGAAA	0.473																																						ENST00000297668.6																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24						c.(2083-2085)ggA>ggG		contactin associated protein-like 3							84.0	68.0	73.0					9																	39118252		2203	4298	6501	SO:0001819	synonymous_variant	79937				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding	g.chr9:39118252T>C	AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"""cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"""	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.2085A>G	9.37:g.39118252T>C						CNTNAP3_ENST00000323947.7_Silent_p.G601G|CNTNAP3_ENST00000377656.2_Silent_p.G694G|CNTNAP3_ENST00000377659.1_Silent_p.G694G|CNTNAP3_ENST00000358144.2_Silent_p.G607G	p.G695G	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	14	2158	-			695			Fibrinogen C-terminal.		B1AMA0|Q9C0E9	Silent	SNP	ENST00000297668.6	37	c.2085A>G	CCDS6616.1																																																																																				0.473	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655		38	63	0	0	0	1	0	38	63				
DUOX2	50506	broad.mit.edu	37	15	45386413	45386413	+	Missense_Mutation	SNP	T	T	C			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr15:45386413T>C	ENST00000603300.1	-	34	4784	c.4582A>G	c.(4582-4584)Aag>Gag	p.K1528E	DUOX2_ENST00000389039.6_Missense_Mutation_p.K1528E	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1528					adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TGACAGGCCTTCTCTACATTC	0.577																																						ENST00000389039.6																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63						c.(4582-4584)Aag>Gag		dual oxidase 2							134.0	114.0	121.0					15																	45386413		2198	4298	6496	SO:0001583	missense	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	g.chr15:45386413T>C	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.4582A>G	15.37:g.45386413T>C	ENSP00000475084:p.Lys1528Glu					DUOX2_ENST00000603300.1_Missense_Mutation_p.K1528E	p.K1528E			Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	34	4967	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	1528					A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	37	c.4582A>G	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	T	18.57	3.652156	0.67472	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.36	4.23	0.50019	Ferric reductase, NAD binding (1);	0.140709	0.64402	D	0.000006	T	0.48607	0.1509	L	0.46885	1.475	0.48040	D	0.999578	B	0.34226	0.443	B	0.36092	0.217	T	0.42899	-0.9424	9	0.39692	T	0.17	-14.282	7.7791	0.29054	0.0:0.0746:0.1389:0.7865	.	1528	Q9NRD8	DUOX2_HUMAN	E	1528	.	ENSP00000373691:K1528E	K	-	1	0	DUOX2	43173705	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.239000	0.58694	0.980000	0.38523	0.533000	0.62120	AAG		0.577	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		10	20	0	0	0	1	0	10	20				
FOXI2	399823	broad.mit.edu	37	10	129537028	129537028	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr10:129537028G>A	ENST00000388920.4	+	2	795	c.756G>A	c.(754-756)atG>atA	p.M252I		NM_207426.2	NP_997309.2	Q6ZQN5	FOXI2_HUMAN	forkhead box I2	252					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(3)	4		all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)				CTTCTGCTATGAGCGCTCTGG	0.711																																					Esophageal Squamous(54;1038 1280 2528 31583)	ENST00000388920.4																			0				large_intestine(1)|lung(3)	4						c.(754-756)atG>atA		forkhead box I2							9.0	11.0	10.0					10																	129537028		2185	4279	6464	SO:0001583	missense	399823				epidermal cell fate specification|otic placode formation|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr10:129537028G>A	AK128865	CCDS7655.2	10q26.2	2008-04-10			ENSG00000186766	ENSG00000186766		"""Forkhead boxes"""	32448	protein-coding gene	gene with protein product							Standard	NM_207426		Approved	FLJ46831	uc009yas.2	Q6ZQN5	OTTHUMG00000019250	ENST00000388920.4:c.756G>A	10.37:g.129537028G>A	ENSP00000373572:p.Met252Ile						p.M252I	NM_207426.2	NP_997309.2	Q6ZQN5	FOXI2_HUMAN			2	795	+		all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)	252						Missense_Mutation	SNP	ENST00000388920.4	37	c.756G>A	CCDS7655.2	.	.	.	.	.	.	.	.	.	.	G	13.92	2.380882	0.42207	.	.	ENSG00000186766	ENST00000388920	D	0.93953	-3.32	4.15	4.15	0.48705	.	0.160883	0.52532	D	0.000065	D	0.85923	0.5810	L	0.32530	0.975	0.58432	D	0.999992	P	0.39282	0.666	B	0.26517	0.07	D	0.85115	0.0965	10	0.21540	T	0.41	.	13.9837	0.64321	0.0:0.0:1.0:0.0	.	252	Q6ZQN5	FOXI2_HUMAN	I	252	ENSP00000373572:M252I	ENSP00000373572:M252I	M	+	3	0	FOXI2	129427018	1.000000	0.71417	0.946000	0.38457	0.007000	0.05969	2.543000	0.45752	2.138000	0.66242	0.561000	0.74099	ATG		0.711	FOXI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050984.2	NM_207426		6	7	0	0	0	1	0	6	7				
KLF12	11278	broad.mit.edu	37	13	74339086	74339086	+	Silent	SNP	T	T	C			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr13:74339086T>C	ENST00000377669.2	-	5	884	c.858A>G	c.(856-858)caA>caG	p.Q286Q	KLF12_ENST00000377666.4_Silent_p.Q286Q	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	286					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		aaggaaacttttgattattca	0.373																																						ENST00000377669.2																			0				central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16						c.(856-858)caA>caG		Kruppel-like factor 12							101.0	96.0	97.0					13																	74339086		2203	4300	6503	SO:0001819	synonymous_variant	11278				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr13:74339086T>C	AJ243274	CCDS9449.1	13q22	2013-01-08			ENSG00000118922	ENSG00000118922		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6346	protein-coding gene	gene with protein product	"""KLF12 zinc finger transcriptional repressor"", ""AP-2rep transcription factor"", ""AP-2 repressor"""	607531				10704285	Standard	NM_007249		Approved	AP-2rep, HSPC122, AP2REP	uc001vjf.3	Q9Y4X4	OTTHUMG00000017078	ENST00000377669.2:c.858A>G	13.37:g.74339086T>C						KLF12_ENST00000377666.4_Silent_p.Q286Q	p.Q286Q	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN		GBM - Glioblastoma multiforme(99;0.00677)	5	884	-		Prostate(6;0.00217)|Breast(118;0.0838)	286					A8K5T2|L0R3J4|Q5VZM7|Q9UHZ0	Silent	SNP	ENST00000377669.2	37	c.858A>G	CCDS9449.1																																																																																				0.373	KLF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045271.2	NM_007249		58	88	0	0	0	1	0	58	88				
MAML3	55534	broad.mit.edu	37	4	140641376	140641376	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr4:140641376G>A	ENST00000509479.2	-	5	3374	c.2518C>T	c.(2518-2520)Ccc>Tcc	p.P840S	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					TTCTGGGAGGGTCCTATTCCC	0.592																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(2518-2520)Ccc>Tcc		mastermind-like 3 (Drosophila)							166.0	170.0	169.0					4																	140641376		2121	4247	6368	SO:0001583	missense	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140641376G>A	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.2518C>T	4.37:g.140641376G>A	ENSP00000421180:p.Pro840Ser					MGST2_ENST00000515137.1_Intron	p.P840S	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			5	3374	-	all_hematologic(180;0.162)		836			Gln-rich.			Missense_Mutation	SNP	ENST00000509479.2	37	c.2518C>T	CCDS54805.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.227073	0.39399	.	.	ENSG00000196782	ENST00000509479;ENST00000538400	T	0.25414	1.8	5.81	4.97	0.65823	.	0.225469	0.38720	N	0.001597	T	0.31857	0.0810	M	0.75264	2.295	0.80722	D	1	B;B	0.22346	0.068;0.068	B;B	0.18561	0.022;0.022	T	0.07366	-1.0776	10	0.30854	T	0.27	.	16.0644	0.80861	0.0:0.2529:0.7471:0.0	.	840;836	E7EVW8;Q96JK9	.;MAML3_HUMAN	S	840;147	ENSP00000421180:P840S	ENSP00000421180:P840S	P	-	1	0	MAML3	140860826	0.998000	0.40836	0.831000	0.32960	0.287000	0.27160	2.624000	0.46444	1.442000	0.47568	-0.165000	0.13383	CCC		0.592	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			71	107	0	0	0	1	0	71	107				
LOC645752	645752	broad.mit.edu	37	15	78212618	78212618	+	lincRNA	SNP	A	A	G	rs201050938	byFrequency	TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr15:78212618A>G	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							TGTAACCGCCACTGGAGGACC	0.562																																						ENST00000565869.1																			0																																																			645752							g.chr15:78212618A>G																													15.37:g.78212618A>G						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.562	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			3	53	0	0	0	1	0	3	53				
SHISA3	152573	broad.mit.edu	37	4	42403414	42403414	+	Silent	SNP	C	C	G			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr4:42403414C>G	ENST00000319234.4	+	2	881	c.663C>G	c.(661-663)ctC>ctG	p.L221L		NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN	shisa family member 3	221					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						CTTACCCCCTCCAGCAGGAGC	0.597																																						ENST00000319234.4																			0				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						c.(661-663)ctC>ctG		shisa family member 3							65.0	68.0	67.0					4																	42403414		2203	4300	6503	SO:0001819	synonymous_variant	152573				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane		g.chr4:42403414C>G	BC012029	CCDS33979.1	4p13	2013-07-31	2013-07-31		ENSG00000178343	ENSG00000178343		"""Shisa homologs"""	25159	protein-coding gene	gene with protein product			"""shisa homolog 3 (Xenopus laevis)"""				Standard	NM_001080505		Approved	hShisa3	uc003gwp.3	A0PJX4	OTTHUMG00000161043	ENST00000319234.4:c.663C>G	4.37:g.42403414C>G							p.L221L	NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN			2	881	+			221					A0PJX3|Q96EQ5	Silent	SNP	ENST00000319234.4	37	c.663C>G	CCDS33979.1																																																																																				0.597	SHISA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363539.1	NM_001080505		12	41	0	0	0	1	0	12	41				
CECR5	27440	broad.mit.edu	37	22	17619599	17619599	+	Missense_Mutation	SNP	A	A	G			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr22:17619599A>G	ENST00000336737.4	-	7	801	c.776T>C	c.(775-777)cTg>cCg	p.L259P	CECR5_ENST00000399852.3_Intron|CECR5_ENST00000155674.5_Missense_Mutation_p.L229P	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	259						mitochondrion (GO:0005739)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				AATGGTTTCCAGGCACAGCAG	0.542																																						ENST00000336737.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21						c.(775-777)cTg>cCg		cat eye syndrome chromosome region, candidate 5							160.0	150.0	153.0					22																	17619599		2203	4300	6503	SO:0001583	missense	27440						hydrolase activity	g.chr22:17619599A>G	AF273270	CCDS13741.1, CCDS33595.1	22q11.2	2008-06-12			ENSG00000069998	ENSG00000069998			1843	protein-coding gene	gene with protein product						11381032	Standard	NM_017829		Approved		uc002zmf.3	Q9BXW7	OTTHUMG00000150071	ENST00000336737.4:c.776T>C	22.37:g.17619599A>G	ENSP00000337358:p.Leu259Pro					CECR5_ENST00000399852.3_Intron|CECR5_ENST00000155674.5_Missense_Mutation_p.L229P	p.L259P	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN			7	801	-		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	259					B2RCK5|Q9BXW8|Q9NWA8|Q9NX41	Missense_Mutation	SNP	ENST00000336737.4	37	c.776T>C	CCDS33595.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.443857	0.83993	.	.	ENSG00000069998	ENST00000155674;ENST00000336737	T;T	0.35605	1.3;1.3	4.73	4.73	0.59995	HAD-like domain (1);	0.000000	0.64402	D	0.000001	T	0.68906	0.3052	M	0.93420	3.415	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.998	T	0.78625	-0.2131	10	0.87932	D	0	-18.2214	14.3822	0.66919	1.0:0.0:0.0:0.0	.	229;259;123	Q9BXW7-2;Q9BXW7;B3KVW8	.;CECR5_HUMAN;.	P	229;259	ENSP00000155674:L229P;ENSP00000337358:L259P	ENSP00000155674:L229P	L	-	2	0	CECR5	15999599	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.694000	0.91293	1.984000	0.57885	0.448000	0.29417	CTG		0.542	CECR5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316100.1	NM_017829		56	92	0	0	0	1	0	56	92				
KLHL36	79786	broad.mit.edu	37	16	84693464	84693464	+	Silent	SNP	T	T	A			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr16:84693464T>A	ENST00000564996.1	+	4	1377	c.1236T>A	c.(1234-1236)tcT>tcA	p.S412S	KLHL36_ENST00000258157.5_Intron	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	412					protein ubiquitination (GO:0016567)					endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						GAGCGCTCTCTTCAGTAGAGA	0.572																																						ENST00000564996.1																			0				endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1234-1236)tcT>tcA		kelch-like family member 36							107.0	98.0	101.0					16																	84693464		2199	4300	6499	SO:0001819	synonymous_variant	79786							g.chr16:84693464T>A	AK022605	CCDS10948.1	16q24.1	2013-02-22	2013-02-22	2008-07-07	ENSG00000135686	ENSG00000135686		"""Kelch-like"", ""BTB/POZ domain containing"""	17844	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 44"", ""kelch-like 36 (Drosophila)"""	C16orf44			Standard	NM_024731		Approved	FLJ12543	uc002fig.3	Q8N4N3	OTTHUMG00000137642	ENST00000564996.1:c.1236T>A	16.37:g.84693464T>A						KLHL36_ENST00000258157.5_Intron	p.S412S	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN			4	1377	+			412					Q8N5G6|Q9H9U6	Silent	SNP	ENST00000564996.1	37	c.1236T>A	CCDS10948.1																																																																																				0.572	KLHL36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269084.2			28	52	0	0	0	1	0	28	52				
DVL2	1856	broad.mit.edu	37	17	7129360	7129360	+	Missense_Mutation	SNP	G	G	A	rs147610025		TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr17:7129360G>A	ENST00000005340.5	-	15	2317	c.2035C>T	c.(2035-2037)Ccc>Tcc	p.P679S	MIR324_ENST00000362183.1_RNA|DVL2_ENST00000575458.1_Missense_Mutation_p.P673S	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	679					canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration in hindbrain (GO:0021535)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hippo signaling (GO:0035329)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|segment specification (GO:0007379)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|clathrin-coated endocytic vesicle (GO:0045334)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|identical protein binding (GO:0042802)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						ACCATCATGGGGTTGTAGGGG	0.672																																						ENST00000005340.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						c.(2035-2037)Ccc>Tcc		dishevelled segment polarity protein 2		G	SER/PRO	0,4406		0,0,2203	35.0	41.0	39.0		2035	5.2	1.0	17	dbSNP_134	39	1,8597	1.2+/-3.3	0,1,4298	yes	missense	DVL2	NM_004422.2	74	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	679/737	7129360	1,13003	2203	4299	6502	SO:0001583	missense	1856				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity	g.chr17:7129360G>A	BC014844	CCDS11091.1	17p13.1	2013-05-22	2013-05-22		ENSG00000004975	ENSG00000004975		"""Dishevelled homologs"""	3086	protein-coding gene	gene with protein product		602151	"""dishevelled 2 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 2 (Drosophila)"""			8662242	Standard	NM_004422		Approved		uc002gez.1	O14641	OTTHUMG00000102155	ENST00000005340.5:c.2035C>T	17.37:g.7129360G>A	ENSP00000005340:p.Pro679Ser					DVL2_ENST00000575458.1_Missense_Mutation_p.P673S	p.P679S	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN			15	2317	-			679					D3DTN3|Q53XM0	Missense_Mutation	SNP	ENST00000005340.5	37	c.2035C>T	CCDS11091.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.839855	0.51057	0.0	1.16E-4	ENSG00000004975	ENST00000005340	T	0.04360	3.64	5.21	5.21	0.72293	Dishevelled C-terminal (1);	0.255835	0.37669	N	0.001986	T	0.10766	0.0263	M	0.77103	2.36	0.58432	D	0.999994	P;P	0.42078	0.77;0.77	B;B	0.42163	0.378;0.378	T	0.10870	-1.0611	10	0.25106	T	0.35	-19.3798	16.2909	0.82752	0.0:0.0:1.0:0.0	.	673;679	B4DLQ0;O14641	.;DVL2_HUMAN	S	679	ENSP00000005340:P679S	ENSP00000005340:P679S	P	-	1	0	DVL2	7070084	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	7.381000	0.79718	2.712000	0.92718	0.561000	0.74099	CCC		0.672	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219999.2	NM_004422		19	26	0	0	0	1	0	19	26				
HSPA1L	3305	broad.mit.edu	37	6	31777995	31777995	+	Silent	SNP	G	G	A			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr6:31777995G>A	ENST00000375654.4	-	2	1944	c.1755C>T	c.(1753-1755)gtC>gtT	p.V585V	HSPA1L_ENST00000417199.3_Silent_p.V585V	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	585					binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CCAGTTGATTGACCTCCAGCC	0.408																																						ENST00000375654.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1753-1755)gtC>gtT		heat shock 70kDa protein 1-like							116.0	110.0	112.0					6																	31777995		2203	4300	6503	SO:0001819	synonymous_variant	3305				response to unfolded protein		ATP binding	g.chr6:31777995G>A	D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"""Heat shock proteins / HSP70"""	5234	protein-coding gene	gene with protein product		140559	"""heat shock 70kD protein-like 1"""			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.1755C>T	6.37:g.31777995G>A						HSPA1L_ENST00000417199.3_Silent_p.V585V	p.V585V	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN			2	1944	-			585					A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Silent	SNP	ENST00000375654.4	37	c.1755C>T	CCDS34413.1																																																																																				0.408	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076416.2			4	131	0	0	0	1	0	4	131				
LINC01250	101927554	broad.mit.edu	37	2	2910722	2910723	+	lincRNA	INS	-	-	T	rs373675312		TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr2:2910722_2910723insT	ENST00000457478.1	-	0	594																											tccaccccctctccccagccca	0.708																																						ENST00000457478.1																			0																																																			101927554							g.chr2:2910722_2910723insT																													2.37:g.2910723_2910723dupT														0	594	-									RNA	INS	ENST00000457478.1	37																																																																																						0.708	AC019118.2-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000322597.1			3	3						3	3	---	---	---	---
SOHLH1	402381	broad.mit.edu	37	9	138586951	138586951	+	Frame_Shift_Del	DEL	C	C	-			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr9:138586951delC	ENST00000298466.5	-	6	880	c.820delG	c.(820-822)gctfs	p.A275fs	SOHLH1_ENST00000425225.1_Frame_Shift_Del_p.A275fs	NM_001012415.2	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	275					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		AGAGGTGCAGCCCCCATGGCC	0.711																																						ENST00000298466.5																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12						c.(820-822)ctfs		spermatogenesis and oogenesis specific basic helix-loop-helix 1							10.0	10.0	10.0					9																	138586951		2158	4234	6392	SO:0001589	frameshift_variant	402381				cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr9:138586951delC	BC031861	CCDS35174.1, CCDS48054.1	9q34.3	2013-05-21	2006-03-16	2006-03-16	ENSG00000165643	ENSG00000165643		"""Basic helix-loop-helix proteins"""	27845	protein-coding gene	gene with protein product	"""spermatogenesis associated 27"""	610224	"""chromosome 9 open reading frame 157"""	C9orf157		12477932	Standard	NM_001012415		Approved	NOHLH, TEB2, bA100C15.3, bHLHe80, SPATA27	uc010nbe.3	Q5JUK2	OTTHUMG00000020915	ENST00000298466.5:c.820delG	9.37:g.138586951delC	ENSP00000298466:p.Ala275fs					SOHLH1_ENST00000425225.1_Frame_Shift_Del_p.A275fs	p.A275fs	NM_001012415.2	NP_001012415.2	Q5JUK2	SOLH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)	6	880	-		Myeloproliferative disorder(178;0.0511)	275					C9JG81|Q5EE14|Q5EGC2|Q8NEE3	Frame_Shift_Del	DEL	ENST00000298466.5	37	c.820delG	CCDS35174.1																																																																																				0.711	SOHLH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055018.2	NM_001012415		2	4						2	4	---	---	---	---
DHX37	57647	broad.mit.edu	37	12	125465270	125465272	+	In_Frame_Del	DEL	CTC	CTC	-	rs376470858		TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr12:125465270_125465272delCTC	ENST00000308736.2	-	4	600_602	c.502_504delGAG	c.(502-504)gagdel	p.E168del	DHX37_ENST00000544745.1_5'Flank	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	168							ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.E168delE(3)		breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		CCGATTCCGActcctcctcctcc	0.69																																						ENST00000308736.2																			3	Deletion - In frame(3)	p.E168delE(3)	breast(2)|prostate(1)	breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65						c.(502-504)del		DEAH (Asp-Glu-Ala-His) box polypeptide 37																																				SO:0001651	inframe_deletion	57647						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr12:125465270_125465272delCTC	AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"""DEAH-boxes"""	17210	protein-coding gene	gene with protein product			"""DEAD/DEAH box helicase DDX37"""	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.502_504delGAG	12.37:g.125465279_125465281delCTC	ENSP00000311135:p.Glu168del						p.E168del	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)	4	600_602	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		168					Q9BUI7|Q9P211	In_Frame_Del	DEL	ENST00000308736.2	37	c.502_504delGAG	CCDS9261.1																																																																																				0.690	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656		4	6						4	6	---	---	---	---
PAPOLA	10914	broad.mit.edu	37	14	97022548	97022548	+	Frame_Shift_Del	DEL	A	A	-			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr14:97022548delA	ENST00000216277.8	+	19	2022	c.1802delA	c.(1801-1803)caafs	p.Q601fs	PAPOLA_ENST00000392990.2_Frame_Shift_Del_p.Q601fs	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	601	Ser/Thr-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|RNA polyadenylation (GO:0043631)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		ACTGCCACACAACCAGCCATT	0.408																																					NSCLC(19;254 734 11908 35501 39234)	ENST00000216277.8																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21						c.(1801-1803)cafs		poly(A) polymerase alpha							156.0	142.0	147.0					14																	97022548		2203	4300	6503	SO:0001589	frameshift_variant	10914				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr14:97022548delA	X76770	CCDS9946.1, CCDS58334.1, CCDS58335.1	14q32.1-q32.2	2008-02-08				ENSG00000090060	2.7.7.19		14981	protein-coding gene	gene with protein product		605553				8302877, 10429366	Standard	NM_032632		Approved	PAP	uc001yfq.3	P51003		ENST00000216277.8:c.1802delA	14.37:g.97022548delA	ENSP00000216277:p.Gln601fs					PAPOLA_ENST00000392990.2_Frame_Shift_Del_p.Q601fs	p.Q601fs	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN		COAD - Colon adenocarcinoma(157;0.213)	19	2022	+		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)	601			Ser/Thr-rich.		Q86SX4|Q86TV0|Q8IYF5|Q9BVU2	Frame_Shift_Del	DEL	ENST00000216277.8	37	c.1802delA	CCDS9946.1																																																																																				0.408	PAPOLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413411.2			91	131						91	131	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76937831	76937834	+	Frame_Shift_Del	DEL	GGTC	GGTC	-			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chrX:76937831_76937834delGGTC	ENST00000373344.5	-	9	3128_3131	c.2914_2917delGACC	c.(2914-2919)gaccagfs	p.DQ972fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.DQ934fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	972					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						TCATCGCTCTGGTCTTTCTTTAGG	0.328			"""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.(2914-2919)agfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			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:76937831_76937834delGGTC	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.2914_2917delGACC	X.37:g.76937831_76937834delGGTC	ENSP00000362441:p.Asp972fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.DQ934fs	p.DQ972fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	3128_3131	-			972					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.2914_2917delGACC	CCDS14434.1																																																																																				0.328	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		179	37						179	37	---	---	---	---
