#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
TRPM2	7226	broad.mit.edu	37	21	45774548	45774548	+	Silent	SNP	G	G	A			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr21:45774548G>A	ENST00000397928.1	+	2	628	c.183G>A	c.(181-183)tcG>tcA	p.S61S	TRPM2_ENST00000300481.9_Silent_p.S61S|TRPM2_ENST00000397932.2_Silent_p.S61S|TRPM2_ENST00000300482.5_Silent_p.S61S	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	61					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GCCTCAGTTCGTGGATTCCTG	0.458																																						ENST00000397928.1																			0				breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						c.(181-183)tcG>tcA		transient receptor potential cation channel, subfamily M, member 2							299.0	268.0	278.0					21																	45774548		2203	4300	6503	SO:0001819	synonymous_variant	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45774548G>A	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.183G>A	21.37:g.45774548G>A						TRPM2_ENST00000397932.2_Silent_p.S61S|TRPM2_ENST00000300481.9_Silent_p.S61S|TRPM2_ENST00000300482.5_Silent_p.S61S	p.S61S	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN			2	628	+			61					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Silent	SNP	ENST00000397928.1	37	c.183G>A	CCDS13710.1																																																																																				0.458	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		11	94	0	0	0	1	0	11	94				
CRTC1	23373	broad.mit.edu	37	19	18871031	18871031	+	Silent	SNP	C	C	T			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr19:18871031C>T	ENST00000321949.8	+	8	905	c.879C>T	c.(877-879)gcC>gcT	p.A293A	CRTC1_ENST00000338797.6_Silent_p.A309A|CRTC1_ENST00000601916.1_Silent_p.A218A|CRTC1_ENST00000594658.1_Silent_p.A252A	NM_015321.2	NP_056136.2			CREB regulated transcription coactivator 1										CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						TCGGTGGCGCCGGCCAGGGTA	0.667																																						ENST00000338797.6																		CRTC1/MAML2(516)	0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						c.(925-927)gcC>gcT		CREB regulated transcription coactivator 1							23.0	25.0	24.0					19																	18871031		2183	4278	6461	SO:0001819	synonymous_variant	23373				interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding	g.chr19:18871031C>T	AY040323	CCDS32963.1, CCDS42525.1	19p13	2012-07-31	2005-11-24	2005-11-24					16062	protein-coding gene	gene with protein product	"""transducer of regulated cAMP response element-binding protein"""	607536	"""mucoepidermoid carcinoma translocated 1"""	MECT1		12539049, 14536081, 14506290	Standard	NM_015321		Approved	KIAA0616, FLJ14027, TORC1	uc010ebv.3	Q6UUV9		ENST00000321949.8:c.879C>T	19.37:g.18871031C>T						CRTC1_ENST00000594658.1_Silent_p.A252A|CRTC1_ENST00000601916.1_Silent_p.A218A|CRTC1_ENST00000321949.8_Silent_p.A293A	p.A309A	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN			9	952	+			293			Ser-rich.			Silent	SNP	ENST00000321949.8	37	c.927C>T	CCDS32963.1																																																																																				0.667	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465151.3	NM_025021		9	17	0	0	0	1	0	9	17				
BAG4	9530	broad.mit.edu	37	8	38065246	38065246	+	Missense_Mutation	SNP	C	C	G	rs150045830	byFrequency	TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr8:38065246C>G	ENST00000287322.4	+	3	866	c.595C>G	c.(595-597)Cct>Gct	p.P199A	BAG4_ENST00000432471.2_Missense_Mutation_p.P163A|BAG4_ENST00000521282.1_3'UTR	NM_004874.3	NP_004865.1	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	199					cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to tumor necrosis factor (GO:0071356)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA modification (GO:0090367)|negative regulation of phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:2001145)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein localization to plasma membrane (GO:0072659)|ruffle assembly (GO:0097178)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				TGAAGCACCCCCTCTTAGGGG	0.488													C|||	7	0.00139776	0.0	0.0029	5008	,	,		18519	0.0		0.004	False		,,,				2504	0.001					ENST00000287322.4																			0				breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11						c.(595-597)Cct>Gct		BCL2-associated athanogene 4		C	ALA/PRO,ALA/PRO	3,4403	8.1+/-20.4	0,3,2200	72.0	74.0	73.0		487,595	1.4	0.6	8	dbSNP_134	73	43,8557	27.9+/-77.7	0,43,4257	yes	missense,missense	BAG4	NM_001204878.1,NM_004874.3	27,27	0,46,6457	GG,GC,CC		0.5,0.0681,0.3537	probably-damaging,probably-damaging	163/422,199/458	38065246	46,12960	2203	4300	6503	SO:0001583	missense	9530				anti-apoptosis|apoptosis|protein folding	cytoplasm|nucleus	receptor signaling protein activity	g.chr8:38065246C>G	AF095194	CCDS6104.1, CCDS56533.1	8p11.23	2008-08-07			ENSG00000156735	ENSG00000156735			940	protein-coding gene	gene with protein product	"""silencer of death domains"""	603884				9873016, 9915703	Standard	NM_004874		Approved	SODD	uc003xky.2	O95429	OTTHUMG00000164064	ENST00000287322.4:c.595C>G	8.37:g.38065246C>G	ENSP00000287322:p.Pro199Ala					BAG4_ENST00000521282.1_3'UTR|BAG4_ENST00000432471.2_Missense_Mutation_p.P163A	p.P199A	NM_004874.3	NP_004865.1	O95429	BAG4_HUMAN			3	866	+	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)	199					B4E217|O95818	Missense_Mutation	SNP	ENST00000287322.4	37	c.595C>G	CCDS6104.1	4	0.0018315018315018315	0	0.0	1	0.0027624309392265192	0	0.0	3	0.00395778364116095	C	13.33	2.203580	0.38905	6.81E-4	0.005	ENSG00000156735	ENST00000432471;ENST00000287322;ENST00000521311	T;T	0.80304	-1.33;-1.36	5.3	1.37	0.22104	.	0.539837	0.19103	N	0.122658	T	0.65037	0.2653	M	0.63428	1.95	0.22468	N	0.999078	B;B	0.09022	0.002;0.0	B;B	0.08055	0.003;0.003	T	0.56709	-0.7934	10	0.35671	T	0.21	-6.892	3.8699	0.09031	0.1348:0.5888:0.1304:0.1459	.	163;199	B4E217;O95429	.;BAG4_HUMAN	A	163;199;46	ENSP00000393298:P163A;ENSP00000287322:P199A	ENSP00000287322:P199A	P	+	1	0	BAG4	38184403	0.004000	0.15560	0.563000	0.28383	0.910000	0.53928	-0.195000	0.09546	0.194000	0.20326	-0.182000	0.12963	CCT		0.488	BAG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377038.2	NM_004874		25	35	0	0	0	1	0	25	35				
BMS1P20	96610	broad.mit.edu	37	22	22663086	22663086	+	RNA	SNP	T	T	G	rs1054157|rs71318762	byFrequency	TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr22:22663086T>G	ENST00000426066.1	+	0	525					NR_027293.1				BMS1 pseudogene 20																		AGCTGCCACATAAGTTGTCCT	0.299													.|||	3161	0.63119	0.9652	0.4726	5008	,	,		9186	0.4077		0.5219	False		,,,				2504	0.635					ENST00000426066.1																			0																																																			0							g.chr22:22663086T>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22663086T>G								NR_027293.1						0	525	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.299	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			5	22	0	0	0	1	0	5	22				
KRTAP4-11	653240	broad.mit.edu	37	17	39274291	39274291	+	Missense_Mutation	SNP	T	T	C	rs200214744|rs565505867	byFrequency	TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr17:39274291T>C	ENST00000391413.2	-	1	315	c.277A>G	c.(277-279)Atg>Gtg	p.M93V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	93	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.M93V(4)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGCAGCACATAGACTGGCAG	0.662																																						ENST00000391413.2																			4	Substitution - Missense(4)	p.M93V(4)	endometrium(3)|kidney(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(277-279)Atg>Gtg		keratin associated protein 4-11							6.0	10.0	8.0					17																	39274291		651	1556	2207	SO:0001583	missense	653240					keratin filament		g.chr17:39274291T>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.277A>G	17.37:g.39274291T>C	ENSP00000375232:p.Met93Val						p.M93V	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	315	-		Breast(137;0.000496)	93			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.277A>G	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	0.073	-1.199029	0.01581	.	.	ENSG00000212721	ENST00000391413	T	0.00580	6.43	4.25	-4.9	0.03094	.	.	.	.	.	T	0.00109	0.0003	N	0.00040	-2.49	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43097	-0.9412	9	0.02654	T	1	.	0.4739	0.00536	0.3479:0.2455:0.1203:0.2863	.	93	Q9BYQ6	KR411_HUMAN	V	93	ENSP00000375232:M93V	ENSP00000375232:M93V	M	-	1	0	KRTAP4-11	36527817	.	.	0.012000	0.15200	0.010000	0.07245	.	.	-1.319000	0.02286	-1.132000	0.01976	ATG		0.662	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			5	89	0	0	0	1	0	5	89				
PTPRF	5792	broad.mit.edu	37	1	44019524	44019524	+	Silent	SNP	G	G	A			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr1:44019524G>A	ENST00000359947.4	+	5	631	c.291G>A	c.(289-291)cgG>cgA	p.R97R	PTPRF_ENST00000372414.3_Silent_p.R97R|PTPRF_ENST00000438120.1_Silent_p.R97R|PTPRF_ENST00000372413.3_Silent_p.R97R	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	97	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGCCATTGCGGGTGCAGCGAG	0.542																																						ENST00000359947.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(289-291)cgG>cgA		protein tyrosine phosphatase, receptor type, F							142.0	106.0	118.0					1																	44019524		2203	4300	6503	SO:0001819	synonymous_variant	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44019524G>A	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.291G>A	1.37:g.44019524G>A						PTPRF_ENST00000438120.1_Silent_p.R97R|PTPRF_ENST00000372413.3_Silent_p.R97R|PTPRF_ENST00000372414.3_Silent_p.R97R	p.R97R	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN			5	631	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	97			Ig-like C2-type 1.		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Silent	SNP	ENST00000359947.4	37	c.291G>A	CCDS489.2																																																																																				0.542	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			3	39	0	0	0	1	0	3	39				
OR6K2	81448	broad.mit.edu	37	1	158669721	158669721	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr1:158669721G>A	ENST00000359610.2	-	1	765	c.722C>T	c.(721-723)aCg>aTg	p.T241M		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					AGAGACACACGTGGAAAATGC	0.463																																						ENST00000359610.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46						c.(721-723)aCg>aTg		olfactory receptor, family 6, subfamily K, member 2							115.0	104.0	108.0					1																	158669721		2203	4300	6503	SO:0001583	missense	81448				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158669721G>A	BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"""GPCR / Class A : Olfactory receptors"""	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.722C>T	1.37:g.158669721G>A	ENSP00000352626:p.Thr241Met						p.T241M	NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN			1	765	-	all_hematologic(112;0.0378)		241					B9EH33|Q6IFR6	Missense_Mutation	SNP	ENST00000359610.2	37	c.722C>T	CCDS30902.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.013641	0.54468	.	.	ENSG00000196171	ENST00000359610	T	0.42513	0.97	4.94	4.94	0.65067	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42821	D	0.000645	T	0.76564	0.4005	H	0.99026	4.405	0.48901	D	0.999721	D	0.89917	1.0	D	0.97110	1.0	D	0.86504	0.1805	10	0.87932	D	0	-6.5034	17.103	0.86654	0.0:0.0:1.0:0.0	.	241	Q8NGY2	OR6K2_HUMAN	M	241	ENSP00000352626:T241M	ENSP00000352626:T241M	T	-	2	0	OR6K2	156936345	1.000000	0.71417	0.952000	0.39060	0.118000	0.20060	7.234000	0.78134	2.538000	0.85594	0.655000	0.94253	ACG		0.463	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279		40	46	0	0	0	1	0	40	46				
DDX4	54514	broad.mit.edu	37	5	55075828	55075828	+	Missense_Mutation	SNP	C	C	T	rs137993034		TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr5:55075828C>T	ENST00000505374.1	+	8	523	c.431C>T	c.(430-432)cCa>cTa	p.P144L	DDX4_ENST00000511853.1_Intron|RNA5SP183_ENST00000362452.1_RNA|DDX4_ENST00000353507.5_Intron|DDX4_ENST00000514278.2_Missense_Mutation_p.P124L|DDX4_ENST00000354991.5_Intron	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	144	Gly-rich.				male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				GCTTCAGGGCCATACAGAAGA	0.413																																						ENST00000505374.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(430-432)cCa>cTa		DEAD (Asp-Glu-Ala-Asp) box polypeptide 4		C	,LEU/PRO,,LEU/PRO	0,4406		0,0,2203	146.0	135.0	139.0		,371,,431	5.4	0.8	5	dbSNP_134	139	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense,intron,missense	DDX4	NM_001142549.1,NM_001166533.1,NM_001166534.1,NM_024415.2	,98,,98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,benign,,benign	,124/705,,144/725	55075828	1,13005	2203	4300	6503	SO:0001583	missense	54514				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:55075828C>T	AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"""DEAD-boxes"""	18700	protein-coding gene	gene with protein product		605281	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"""			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.431C>T	5.37:g.55075828C>T	ENSP00000424838:p.Pro144Leu					DDX4_ENST00000354991.5_Intron|DDX4_ENST00000514278.2_Missense_Mutation_p.P124L|DDX4_ENST00000353507.5_Intron|DDX4_ENST00000511853.1_Intron	p.P144L	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN			8	523	+		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)	144			Gly-rich.		A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Missense_Mutation	SNP	ENST00000505374.1	37	c.431C>T	CCDS3969.1	.	.	.	.	.	.	.	.	.	.	C	18.95	3.731966	0.69189	0.0	1.16E-4	ENSG00000152670	ENST00000514278;ENST00000505374;ENST00000506511;ENST00000515709;ENST00000514679;ENST00000511491	T;T;T;T;T;T	0.51817	2.07;2.01;3.55;0.84;0.75;0.69	5.37	5.37	0.77165	.	0.696652	0.13921	N	0.353568	T	0.36220	0.0959	L	0.36672	1.1	0.26798	N	0.969265	B;B	0.18741	0.01;0.03	B;B	0.21151	0.033;0.022	T	0.15235	-1.0444	10	0.16420	T	0.52	-7.1262	9.9516	0.41642	0.0:0.9106:0.0:0.0894	.	124;144	D6RDK4;Q9NQI0	.;DDX4_HUMAN	L	124;144;124;118;144;144	ENSP00000425359:P124L;ENSP00000424838:P144L;ENSP00000427167:P124L;ENSP00000424779:P118L;ENSP00000424112:P144L;ENSP00000427522:P144L	ENSP00000424838:P144L	P	+	2	0	DDX4	55111585	0.003000	0.15002	0.787000	0.31911	0.990000	0.78478	1.682000	0.37628	2.798000	0.96311	0.650000	0.86243	CCA		0.413	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	NM_024415		10	35	0	0	0	1	0	10	35				
PTPRK	5796	broad.mit.edu	37	6	128294828	128294828	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr6:128294828G>A	ENST00000368215.3	-	28	4110	c.4111C>T	c.(4111-4113)Cgg>Tgg	p.R1371W	PTPRK_ENST00000368226.4_Missense_Mutation_p.R1372W|PTPRK_ENST00000368227.3_Missense_Mutation_p.R1389W|PTPRK_ENST00000368210.3_Missense_Mutation_p.R1390W|PTPRK_ENST00000368213.5_Missense_Mutation_p.R1378W|PTPRK_ENST00000368207.3_Missense_Mutation_p.R1404W|PTPRK_ENST00000532331.1_Missense_Mutation_p.R1394W			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1371	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ATAATCGTCCGGCCTTCCCCT	0.483																																						ENST00000368227.3																		PTPRK/RSPO3(10)	0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(4165-4167)Cgg>Tgg		protein tyrosine phosphatase, receptor type, K							120.0	104.0	109.0					6																	128294828		2203	4300	6503	SO:0001583	missense	5796				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128294828G>A	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.4111C>T	6.37:g.128294828G>A	ENSP00000357198:p.Arg1371Trp					PTPRK_ENST00000368226.4_Missense_Mutation_p.R1372W|PTPRK_ENST00000368215.3_Missense_Mutation_p.R1371W|PTPRK_ENST00000368213.5_Missense_Mutation_p.R1378W|PTPRK_ENST00000368207.3_Missense_Mutation_p.R1404W|PTPRK_ENST00000532331.1_Missense_Mutation_p.R1394W|PTPRK_ENST00000368210.3_Missense_Mutation_p.R1390W	p.R1389W			Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	29	4531	-			1371			Tyrosine-protein phosphatase 2.		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	ENST00000368215.3	37	c.4165C>T		.	.	.	.	.	.	.	.	.	.	G	18.97	3.735714	0.69189	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207	T;T;T;T;T;T;T	0.14022	2.54;2.54;2.54;2.54;2.54;2.54;2.54	5.82	1.71	0.24356	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	T	0.30603	0.0770	M	0.86651	2.83	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.998;0.996	T	0.39165	-0.9627	10	0.48119	T	0.1	.	15.9481	0.79809	0.0:0.0:0.4203:0.5797	.	1394;1378;1371;1372	B7ZMG0;Q15262-3;Q15262;Q15262-2	.;.;PTPRK_HUMAN;.	W	1372;1389;1394;1378;1390;1371;1404	ENSP00000357209:R1372W;ENSP00000357210:R1389W;ENSP00000432973:R1394W;ENSP00000357196:R1378W;ENSP00000357193:R1390W;ENSP00000357198:R1371W;ENSP00000357190:R1404W	ENSP00000357190:R1404W	R	-	1	2	PTPRK	128336521	0.998000	0.40836	0.998000	0.56505	0.996000	0.88848	2.316000	0.43761	0.319000	0.23209	0.655000	0.94253	CGG		0.483	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1			5	107	0	0	0	1	0	5	107				
TRBV6-7	28600	broad.mit.edu	37	7	142144058	142144058	+	RNA	SNP	C	C	T			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr7:142144058C>T	ENST00000390373.2	-	0	26									T cell receptor beta variable 6-7 (non-functional)																		GAGAAAAGGCCACACAGCACA	0.602																																						ENST00000390373.2																			0																																																			0							g.chr7:142144058C>T	L36092		7q34	2012-02-07	2008-09-12		ENSG00000253188	ENSG00000253188		"""T cell receptors / TRB locus"""	12232	other	T cell receptor gene			"""T cell receptor beta variable 6-7"""			8650574	Standard	NG_001333		Approved	TRBV67, TCRBV13S8P, TCRBV6S7			OTTHUMG00000158511		7.37:g.142144058C>T														0	26	-									RNA	SNP	ENST00000390373.2	37																																																																																						0.602	TRBV6-7-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351217.2	NG_001333		5	274	0	0	0	1	0	5	274				
MID1	4281	broad.mit.edu	37	X	10417629	10417629	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chrX:10417629T>C	ENST00000317552.4	-	10	2183	c.1783A>G	c.(1783-1785)Att>Gtt	p.I595V	MID1_ENST00000479925.1_5'UTR|MID1_ENST00000453318.2_Missense_Mutation_p.I595V|MID1_ENST00000380785.1_Missense_Mutation_p.I595V|MID1_ENST00000380787.1_Missense_Mutation_p.I595V|MID1_ENST00000380782.2_3'UTR|MID1_ENST00000380779.1_Missense_Mutation_p.I595V|MID1_ENST00000380780.1_Missense_Mutation_p.I595V	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	595	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				microtubule cytoskeleton organization (GO:0000226)|negative regulation of microtubule depolymerization (GO:0007026)|pattern specification process (GO:0007389)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein localization to microtubule (GO:0035372)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						GCAGGCTCAATGGGGATTTCC	0.547																																						ENST00000317552.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.(1783-1785)Att>Gtt		midline 1 (Opitz/BBB syndrome)							93.0	72.0	79.0					X																	10417629		2203	4300	6503	SO:0001583	missense	0				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding	g.chrX:10417629T>C	Y13667	CCDS14138.1, CCDS75952.1, CCDS75953.1	Xp22	2014-06-18	2014-06-18		ENSG00000101871	ENSG00000101871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7095	protein-coding gene	gene with protein product	"""Opitz/BBB syndrome"""	300552				9354791, 9425238	Standard	NM_001098624		Approved	OS, FXY, TRIM18, RNF59	uc004cti.4	O15344	OTTHUMG00000021127	ENST00000317552.4:c.1783A>G	X.37:g.10417629T>C	ENSP00000312678:p.Ile595Val					MID1_ENST00000479925.1_5'UTR|MID1_ENST00000380779.1_Missense_Mutation_p.I595V|MID1_ENST00000453318.2_Missense_Mutation_p.I595V|MID1_ENST00000380780.1_Missense_Mutation_p.I595V|MID1_ENST00000380782.2_3'UTR|MID1_ENST00000380785.1_Missense_Mutation_p.I595V|MID1_ENST00000380787.1_Missense_Mutation_p.I595V	p.I595V	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN			10	2183	-			595			B30.2/SPRY.		B2RCG2|O75361|Q9BZX5	Missense_Mutation	SNP	ENST00000317552.4	37	c.1783A>G	CCDS14138.1	.	.	.	.	.	.	.	.	.	.	T	4.992	0.184266	0.09495	.	.	ENSG00000101871	ENST00000453318;ENST00000317552;ENST00000380785;ENST00000380779;ENST00000380787;ENST00000380780;ENST00000454373	T;T;T;T;T;T	0.60920	0.15;0.15;0.15;0.15;0.15;0.15	5.5	5.5	0.81552	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.060516	0.64402	D	0.000006	T	0.35128	0.0921	N	0.12887	0.27	0.50632	D	0.999884	B;B;B	0.14438	0.01;0.005;0.001	B;B;B	0.22880	0.042;0.03;0.009	T	0.20571	-1.0271	10	0.06494	T	0.89	.	10.8121	0.46553	0.0:0.0:0.1559:0.8441	.	595;595;545	A8K5A0;O15344;B4DLX8	.;TRI18_HUMAN;.	V	595;595;595;595;595;595;545	ENSP00000414521:I595V;ENSP00000312678:I595V;ENSP00000370162:I595V;ENSP00000370156:I595V;ENSP00000370164:I595V;ENSP00000370157:I595V	ENSP00000312678:I595V	I	-	1	0	MID1	10377629	1.000000	0.71417	0.984000	0.44739	0.963000	0.63663	3.781000	0.55394	1.857000	0.53885	0.345000	0.21793	ATT		0.547	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055738.1			5	143	0	0	0	1	0	5	143				
NFRKB	4798	broad.mit.edu	37	11	129758574	129758574	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr11:129758574C>A	ENST00000446488.3	-	3	355	c.252G>T	c.(250-252)caG>caT	p.Q84H	NFRKB_ENST00000526940.1_Missense_Mutation_p.Q84H|NFRKB_ENST00000304521.5_Missense_Mutation_p.Q84H|NFRKB_ENST00000524746.1_Missense_Mutation_p.Q84H|NFRKB_ENST00000524794.1_Missense_Mutation_p.Q97H	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	84					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protease binding (GO:0002020)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GTTCATTCTGCTGCTCAGCAC	0.488																																						ENST00000446488.3																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32						c.(250-252)caG>caT		nuclear factor related to kappaB binding protein							111.0	101.0	105.0					11																	129758574		2201	4297	6498	SO:0001583	missense	4798				DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding	g.chr11:129758574C>A		CCDS8483.1, CCDS44770.1	11q24-q25	2011-07-06			ENSG00000170322	ENSG00000170322		"""INO80 complex subunits"""	7802	protein-coding gene	gene with protein product	"""nuclear factor related to kappa B binding protein"", ""DNA-binding protein R kappa B"", ""INO80 complex subunit G"""	164013				1427843	Standard	NM_006165		Approved	DKFZp547B2013, INO80G	uc001qfg.3	Q6P4R8	OTTHUMG00000165761	ENST00000446488.3:c.252G>T	11.37:g.129758574C>A	ENSP00000400476:p.Gln84His					NFRKB_ENST00000524794.1_Missense_Mutation_p.Q97H|NFRKB_ENST00000524746.1_Missense_Mutation_p.Q84H|NFRKB_ENST00000526940.1_Missense_Mutation_p.Q84H|NFRKB_ENST00000304521.5_Missense_Mutation_p.Q84H	p.Q84H	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)	3	355	-	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	84					Q12869|Q15312|Q9H048	Missense_Mutation	SNP	ENST00000446488.3	37	c.252G>T	CCDS44770.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.258218	0.39896	.	.	ENSG00000170322	ENST00000304521;ENST00000446488;ENST00000524794;ENST00000524746;ENST00000531755;ENST00000532225;ENST00000529319;ENST00000526940;ENST00000526884	.	.	.	5.77	4.86	0.63082	.	0.111040	0.64402	D	0.000007	T	0.41166	0.1147	L	0.38953	1.18	0.44946	D	0.997967	B;B;B;B	0.12630	0.006;0.003;0.005;0.005	B;B;B;B	0.12156	0.003;0.003;0.007;0.007	T	0.36359	-0.9751	9	0.33141	T	0.24	-16.8125	3.0375	0.06127	0.1537:0.5635:0.1315:0.1513	.	84;84;84;97	B4DSL1;Q6P4R8;Q6P4R8-3;Q6P4R8-2	.;NFRKB_HUMAN;.;.	H	84;84;97;84;84;84;84;84;84	.	ENSP00000303800:Q84H	Q	-	3	2	NFRKB	129263784	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	0.799000	0.27028	1.451000	0.47736	0.650000	0.86243	CAG		0.488	NFRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386063.2	NM_006165		4	79	1	0	0.150653	1	0.150653	4	79				
MAMLD1	10046	broad.mit.edu	37	X	149639635	149639635	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chrX:149639635A>T	ENST00000370401.2	+	4	2100	c.1790A>T	c.(1789-1791)cAg>cTg	p.Q597L	MAMLD1_ENST00000262858.5_Missense_Mutation_p.Q597L|MAMLD1_ENST00000426613.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000455522.2_Missense_Mutation_p.Q78L|MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q572L			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	597	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					TTgcagctgcagcagcagcag	0.607																																						ENST00000370401.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1789-1791)cAg>cTg		mastermind-like domain containing 1							67.0	59.0	62.0					X																	149639635		2203	4300	6503	SO:0001583	missense	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639635A>T	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1790A>T	X.37:g.149639635A>T	ENSP00000359428:p.Gln597Leu					MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000262858.5_Missense_Mutation_p.Q597L|MAMLD1_ENST00000455522.2_Missense_Mutation_p.Q78L|MAMLD1_ENST00000426613.2_Missense_Mutation_p.Q572L	p.Q597L			Q13495	MAMD1_HUMAN			4	2100	+	Acute lymphoblastic leukemia(192;6.56e-05)		597			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	ENST00000370401.2	37	c.1790A>T	CCDS14693.2	.	.	.	.	.	.	.	.	.	.	A	11.70	1.717048	0.30413	.	.	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000432680;ENST00000262858;ENST00000426613;ENST00000455522	T;T;T;T;T	0.68181	0.18;-0.31;0.18;0.17;0.83	3.95	-2.22	0.06952	.	0.914301	0.09376	N	0.810639	T	0.65565	0.2703	L	0.44542	1.39	0.26213	N	0.979273	P;P;P;P	0.51351	0.835;0.835;0.944;0.835	P;P;P;P	0.49999	0.529;0.529;0.628;0.529	T	0.63198	-0.6691	10	0.66056	D	0.02	-0.2357	12.9577	0.58441	0.4497:0.5503:0.0:0.0	.	469;572;572;597	F6WVG1;Q13495-4;Q13495-3;Q13495	.;.;.;MAMD1_HUMAN	L	469;597;572;597;572;78	ENSP00000359428:Q597L;ENSP00000414517:Q572L;ENSP00000262858:Q597L;ENSP00000397438:Q572L;ENSP00000389106:Q78L	ENSP00000262858:Q597L	Q	+	2	0	MAMLD1	149390293	0.130000	0.22417	0.006000	0.13384	0.394000	0.30568	0.878000	0.28126	-0.614000	0.05687	-0.496000	0.04628	CAG		0.607	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		4	182	0	0	0	1	0	4	182				
TRMT1	55621	broad.mit.edu	37	19	13220750	13220750	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr19:13220750G>A	ENST00000592062.1	-	10	1655	c.1085C>T	c.(1084-1086)gCg>gTg	p.A362V	TRMT1_ENST00000221504.8_Intron|TRMT1_ENST00000357720.4_Missense_Mutation_p.A362V|TRMT1_ENST00000437766.1_Missense_Mutation_p.A362V			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	362	Trm1 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00958}.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		GACTCCTGACGCTTTGCCGAG	0.652																																						ENST00000592062.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(1084-1086)gCg>gTg		tRNA methyltransferase 1 homolog (S. cerevisiae)							60.0	68.0	65.0					19																	13220750		2203	4300	6503	SO:0001583	missense	55621						RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding	g.chr19:13220750G>A	AF196479	CCDS12293.1, CCDS45997.1	19p13.13	2012-06-12	2012-06-12						25980	protein-coding gene	gene with protein product		611669				10982862	Standard	NM_001142554		Approved	FLJ20244, TRM1	uc002mwl.3	Q9NXH9		ENST00000592062.1:c.1085C>T	19.37:g.13220750G>A	ENSP00000466967:p.Ala362Val					TRMT1_ENST00000437766.1_Missense_Mutation_p.A362V|TRMT1_ENST00000357720.4_Missense_Mutation_p.A362V|TRMT1_ENST00000221504.8_Intron	p.A362V			Q9NXH9	TRM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)	10	1655	-			362					O76103|Q548Y5|Q8WVA6	Missense_Mutation	SNP	ENST00000592062.1	37	c.1085C>T	CCDS12293.1	.	.	.	.	.	.	.	.	.	.	G	11.23	1.576005	0.28092	.	.	ENSG00000104907	ENST00000357720;ENST00000437766	.	.	.	4.49	4.49	0.54785	.	0.257891	0.38720	N	0.001585	T	0.20210	0.0486	N	0.11651	0.15	0.28063	N	0.932876	B	0.13145	0.007	B	0.09377	0.004	T	0.10847	-1.0612	9	0.02654	T	1	-17.3051	12.5341	0.56133	0.0:0.0:1.0:0.0	.	362	Q9NXH9	TRM1_HUMAN	V	362	.	ENSP00000350352:A362V	A	-	2	0	TRMT1	13081750	0.006000	0.16342	0.609000	0.28983	0.093000	0.18481	0.073000	0.14640	2.339000	0.79563	0.462000	0.41574	GCG		0.652	TRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452780.2	NM_017722		10	171	0	0	0	1	0	10	171				
NUMA1	4926	broad.mit.edu	37	11	71733448	71733448	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr11:71733448T>G	ENST00000393695.3	-	7	640	c.309A>C	c.(307-309)ttA>ttC	p.L103F	NUMA1_ENST00000358965.6_Missense_Mutation_p.L103F|RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Missense_Mutation_p.L103F	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TAGAGTGGTATAAGAGCAGCA	0.522			T	RARA	APL																																	ENST00000393695.3				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(307-309)ttA>ttC		nuclear mitotic apparatus protein 1							144.0	146.0	146.0					11																	71733448		2200	4293	6493	SO:0001583	missense	0				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71733448T>G	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.309A>C	11.37:g.71733448T>G	ENSP00000377298:p.Leu103Phe					NUMA1_ENST00000358965.6_Missense_Mutation_p.L103F|NUMA1_ENST00000351960.6_Missense_Mutation_p.L103F	p.L103F	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			7	640	-			103						Missense_Mutation	SNP	ENST00000393695.3	37	c.309A>C	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	T	14.71	2.616097	0.46631	.	.	ENSG00000137497	ENST00000351960;ENST00000358965;ENST00000393695;ENST00000542977;ENST00000537217;ENST00000544238;ENST00000543937;ENST00000543009;ENST00000537930;ENST00000544129;ENST00000535947;ENST00000535087	T;T;T;T;T;T;T;T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06	5.03	-4.7	0.03288	.	0.106599	0.40728	N	0.001028	T	0.62454	0.2429	L	0.36672	1.1	0.23869	N	0.996612	D;P;P;P;D;P	0.89917	1.0;0.946;0.946;0.703;1.0;0.703	D;P;P;B;D;B	0.91635	0.999;0.509;0.509;0.276;0.997;0.276	T	0.60672	-0.7217	10	0.24483	T	0.36	.	12.1596	0.54098	0.0:0.5863:0.1955:0.2182	.	103;103;103;103;103;103	F5H6Y5;F5H4J1;A8K394;Q14980-2;Q14980;Q9BTE9	.;.;.;.;NUMA1_HUMAN;.	F	103	ENSP00000260051:L103F;ENSP00000351851:L103F;ENSP00000377298:L103F;ENSP00000444880:L103F;ENSP00000442936:L103F;ENSP00000442761:L103F;ENSP00000439759:L103F;ENSP00000438821:L103F;ENSP00000438589:L103F;ENSP00000439092:L103F;ENSP00000444175:L103F;ENSP00000439576:L103F	ENSP00000260051:L103F	L	-	3	2	NUMA1	71411096	0.072000	0.21174	0.407000	0.26434	0.975000	0.68041	-1.383000	0.02544	-1.020000	0.03354	-0.261000	0.10672	TTA		0.522	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			6	189	0	0	0	1	0	6	189				
TRIM37	4591	broad.mit.edu	37	17	57153020	57153020	+	Missense_Mutation	SNP	C	C	A	rs185620415		TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr17:57153020C>A	ENST00000262294.7	-	8	931	c.672G>T	c.(670-672)gaG>gaT	p.E224D	TRIM37_ENST00000393065.2_Missense_Mutation_p.E190D|TRIM37_ENST00000376149.3_Missense_Mutation_p.E102D|TRIM37_ENST00000393066.3_Missense_Mutation_p.E224D	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	224					aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					GGTGCTCCACCTCCTGAAGTA	0.323									Mulibrey Nanism																													ENST00000376149.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(304-306)gaG>gaT		tripartite motif containing 37							88.0	83.0	85.0					17																	57153020		2203	4300	6503	SO:0001583	missense	4591	Mulibrey Nanism	Familial Cancer Database	Perheentupa syndrome		perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding	g.chr17:57153020C>A	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.672G>T	17.37:g.57153020C>A	ENSP00000262294:p.Glu224Asp					TRIM37_ENST00000393065.2_Missense_Mutation_p.E190D|TRIM37_ENST00000393066.3_Missense_Mutation_p.E224D|TRIM37_ENST00000262294.7_Missense_Mutation_p.E224D	p.E102D			O94972	TRI37_HUMAN			8	1115	-	Medulloblastoma(34;0.0922)|all_neural(34;0.101)		224					Q7Z3E6|Q8IYF7|Q8WYF7	Missense_Mutation	SNP	ENST00000262294.7	37	c.306G>T	CCDS32694.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.811165	0.32053	.	.	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000376149;ENST00000393065	T;T;T;T	0.68624	1.43;1.43;-0.34;1.05	5.4	0.807	0.18714	B-box, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.70430	0.3223	L	0.42245	1.32	0.44587	D	0.997553	P;D;B	0.71674	0.708;0.998;0.023	B;D;B	0.77557	0.269;0.99;0.05	T	0.64997	-0.6275	10	0.41790	T	0.15	-8.1696	8.8197	0.35018	0.0:0.4215:0.0:0.5785	.	190;102;224	F8WEE6;O94972-2;O94972	.;.;TRI37_HUMAN	D	224;224;102;190	ENSP00000376785:E224D;ENSP00000262294:E224D;ENSP00000365319:E102D;ENSP00000376784:E190D	ENSP00000262294:E224D	E	-	3	2	TRIM37	54507802	0.995000	0.38212	0.998000	0.56505	0.988000	0.76386	0.334000	0.19787	-0.066000	0.12998	0.585000	0.79938	GAG		0.323	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1	NM_015294		3	39	1	0	0.00909568	1	0.00932026	3	39				
TMEM216	51259	broad.mit.edu	37	11	61161357	61161357	+	Splice_Site	SNP	T	T	G	rs559230605	byFrequency	TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr11:61161357T>G	ENST00000515837.2	+	3	1083	c.138T>G	c.(136-138)ggT>ggG	p.G46G	TMEM216_ENST00000334888.5_Splice_Site_p.G46G|TMEM216_ENST00000398979.3_5'UTR			Q9P0N5	TM216_HUMAN	transmembrane protein 216	46					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)		p.G46G(3)		endometrium(1)|large_intestine(2)|lung(1)|prostate(2)	6						TATTGGCAGGTGTCCTGCTAC	0.438													T|||	429	0.0856629	0.1248	0.0965	5008	,	,		21622	0.0665		0.0666	False		,,,				2504	0.0644					ENST00000515837.2																			3	Substitution - coding silent(3)	p.G46G(3)	prostate(2)|endometrium(1)	endometrium(1)|large_intestine(2)|lung(1)|prostate(2)	6						c.e3-1		transmembrane protein 216							84.0	93.0	90.0					11																	61161357		1966	4155	6121	SO:0001630	splice_region_variant	51259					integral to membrane		g.chr11:61161357T>G		CCDS53640.1	11q13.1	2014-09-17			ENSG00000187049	ENSG00000187049			25018	protein-coding gene	gene with protein product		613277	"""cerebello-oculo-renal syndrome 2"", ""Meckel syndrome, type 2"""	CORS2, MKS2		11042152, 20036350, 20512146	Standard	NM_016499		Approved	MGC13379, HSPC244, JBTS2	uc021qkf.1	Q9P0N5		ENST00000515837.2:c.137-1T>G	11.37:g.61161357T>G						TMEM216_ENST00000398979.3_5'UTR|TMEM216_ENST00000334888.5_Splice_Site_p.G46_splice	p.G46_splice			Q9P0N5	TM216_HUMAN			3	1083	+			39					A8MZ23|B7Z8N1	Splice_Site	SNP	ENST00000515837.2	37	c.136_splice	CCDS53640.1																																																																																				0.438	TMEM216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398430.1	NM_016499	Silent	16	35	0	0	0	1	0	16	35				
LGALS9C	654346	broad.mit.edu	37	17	18387258	18387258	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr17:18387258G>A	ENST00000328114.6	+	2	190	c.109G>A	c.(109-111)Gtt>Att	p.V37I	LGALS9C_ENST00000581545.1_Missense_Mutation_p.V37I|LGALS9C_ENST00000412421.2_Intron|LGALS9C_ENST00000583322.1_Missense_Mutation_p.V37I|LGALS9C_ENST00000584941.1_Missense_Mutation_p.V37I|LGALS9C_ENST00000578983.1_3'UTR	NM_001040078.2	NP_001035167.2	Q6DKI2	LEG9C_HUMAN	lectin, galactoside-binding, soluble, 9C	37	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.						carbohydrate binding (GO:0030246)			NS(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	7						CAATGGGGCCGTTCTCAGCTG	0.562																																						ENST00000328114.6																			0				NS(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	7						c.(109-111)Gtt>Att		lectin, galactoside-binding, soluble, 9C							178.0	120.0	141.0					17																	18387258		2133	3742	5875	SO:0001583	missense	654346						sugar binding	g.chr17:18387258G>A		CCDS32587.1	17p11.2	2011-08-04			ENSG00000171916	ENSG00000171916		"""Lectins, galactoside-binding"""	33874	protein-coding gene	gene with protein product							Standard	NM_001040078		Approved		uc002gtw.3	Q6DKI2	OTTHUMG00000059251	ENST00000328114.6:c.109G>A	17.37:g.18387258G>A	ENSP00000329932:p.Val37Ile					LGALS9C_ENST00000583322.1_Missense_Mutation_p.V37I|LGALS9C_ENST00000581545.1_Missense_Mutation_p.V37I|LGALS9C_ENST00000412421.2_Intron|LGALS9C_ENST00000578983.1_3'UTR|LGALS9C_ENST00000584941.1_Missense_Mutation_p.V37I	p.V37I	NM_001040078.2	NP_001035167.2	Q6DKI2	LEG9C_HUMAN			2	190	+			37			Galectin 1.		B0AZM7	Missense_Mutation	SNP	ENST00000328114.6	37	c.109G>A	CCDS32587.1	.	.	.	.	.	.	.	.	.	.	g	6.966	0.548264	0.13312	.	.	ENSG00000171916	ENST00000328114	T	0.14516	2.5	2.77	-2.66	0.06077	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.332246	0.26891	N	0.021980	T	0.11067	0.0270	L	0.36672	1.1	0.09310	N	1	B	0.18013	0.025	B	0.35073	0.195	T	0.30446	-0.9978	10	0.46703	T	0.11	.	6.8506	0.24012	0.4472:0.0:0.5528:0.0	.	37	Q6DKI2	LEG9C_HUMAN	I	37	ENSP00000329932:V37I	ENSP00000329932:V37I	V	+	1	0	LGALS9C	18327983	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-0.527000	0.06200	-0.631000	0.05560	0.184000	0.17185	GTT		0.562	LGALS9C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000131456.2	NM_001040078		7	90	0	0	0	1	0	7	90				
KCNH4	23415	broad.mit.edu	37	17	40322247	40322247	+	Missense_Mutation	SNP	C	C	T	rs369685674		TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr17:40322247C>T	ENST00000264661.3	-	8	1600	c.1268G>A	c.(1267-1269)cGc>cAc	p.R423H	KCNH4_ENST00000607371.1_Missense_Mutation_p.R423H	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	423					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GTAGGCGCTGCGCCGTGATGG	0.622																																					NSCLC(117;707 1703 2300 21308 31858)	ENST00000264661.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32						c.(1267-1269)cGc>cAc		potassium voltage-gated channel, subfamily H (eag-related), member 4		C	HIS/ARG	0,4406		0,0,2203	59.0	47.0	51.0		1268	4.0	1.0	17		51	1,8599	1.2+/-3.3	0,1,4299	no	missense	KCNH4	NM_012285.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	423/1018	40322247	1,13005	2203	4300	6503	SO:0001583	missense	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40322247C>T	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.1268G>A	17.37:g.40322247C>T	ENSP00000264661:p.Arg423His					KCNH4_ENST00000607371.1_Missense_Mutation_p.R423H	p.R423H	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	8	1600	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	423						Missense_Mutation	SNP	ENST00000264661.3	37	c.1268G>A	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.327853	0.41197	0.0	1.16E-4	ENSG00000089558	ENST00000264661	D	0.98455	-4.94	3.96	3.96	0.45880	Ion transport (1);	0.000000	0.37304	N	0.002150	D	0.96134	0.8740	L	0.41492	1.28	0.49798	D	0.999825	B	0.34399	0.452	B	0.34779	0.189	D	0.96197	0.9142	10	0.46703	T	0.11	.	16.5324	0.84365	0.0:1.0:0.0:0.0	.	423	Q9UQ05	KCNH4_HUMAN	H	423	ENSP00000264661:R423H	ENSP00000264661:R423H	R	-	2	0	KCNH4	37575773	1.000000	0.71417	1.000000	0.80357	0.230000	0.25150	4.830000	0.62745	2.195000	0.70347	0.313000	0.20887	CGC		0.622	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		20	35	0	0	0	1	0	20	35				
ACSM4	341392	broad.mit.edu	37	12	7457055	7457055	+	Missense_Mutation	SNP	G	G	A	rs201026673		TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr12:7457055G>A	ENST00000399422.4	+	1	176	c.128G>A	c.(127-129)cGc>cAc	p.R43H		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	43					acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty-acyl-CoA synthase activity (GO:0004321)|metal ion binding (GO:0046872)			endometrium(6)|kidney(1)|lung(14)	21						GCCATAAATCGCTGTAACAGG	0.483													G|||	1	0.000199681	0.0008	0.0	5008	,	,		-128	0.0		0.0	False		,,,				2504	0.0					ENST00000399422.4																			0				endometrium(6)|kidney(1)|lung(14)	21						c.(127-129)cGc>cAc		acyl-CoA synthetase medium-chain family member 4							130.0	125.0	126.0					12																	7457055		1942	4147	6089	SO:0001583	missense	341392				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr12:7457055G>A		CCDS44825.1	12p13.31	2008-06-12			ENSG00000215009	ENSG00000215009		"""Acyl-CoA synthetase family"""	32016	protein-coding gene	gene with protein product	"""similar to olfactory specific medium-chain acyl CoA synthetase"""	614360				17762044	Standard	NM_001080454		Approved		uc001qsx.1	P0C7M7	OTTHUMG00000154975	ENST00000399422.4:c.128G>A	12.37:g.7457055G>A	ENSP00000382349:p.Arg43His						p.R43H	NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN			1	176	+			43					A8MTI6	Missense_Mutation	SNP	ENST00000399422.4	37	c.128G>A	CCDS44825.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	8.924	0.961790	0.18583	.	.	ENSG00000215009	ENST00000399422	T	0.10960	2.82	4.85	1.84	0.25277	.	0.903514	0.09066	U	0.853644	T	0.07503	0.0189	N	0.12182	0.205	0.32346	N	0.559117	B	0.16166	0.016	B	0.13407	0.009	T	0.23726	-1.0180	10	0.40728	T	0.16	-19.6987	12.2008	0.54323	0.0:0.0:0.4109:0.5891	.	43	P0C7M7	ACSM4_HUMAN	H	43	ENSP00000382349:R43H	ENSP00000382349:R43H	R	+	2	0	ACSM4	7348322	0.238000	0.23825	0.997000	0.53966	0.218000	0.24690	0.254000	0.18314	0.252000	0.21531	0.655000	0.94253	CGC		0.483	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337866.2	NM_001080454		5	149	0	0	0	1	0	5	149				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	4	28	0	0	0	1	0	4	28				
AUTS2	26053	broad.mit.edu	37	7	70229866	70229866	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr7:70229866T>C	ENST00000342771.4	+	8	1664	c.1343T>C	c.(1342-1344)cTc>cCc	p.L448P	AUTS2_ENST00000406775.2_Missense_Mutation_p.L448P	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	448										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		acacccaccctccagcccccc	0.652																																						ENST00000342771.4																			0				breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50						c.(1342-1344)cTc>cCc		autism susceptibility candidate 2							77.0	65.0	69.0					7																	70229866		2203	4300	6503	SO:0001583	missense	26053							g.chr7:70229866T>C	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.1343T>C	7.37:g.70229866T>C	ENSP00000344087:p.Leu448Pro					AUTS2_ENST00000406775.2_Missense_Mutation_p.L448P	p.L448P	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	8	1664	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	448					A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	c.1343T>C	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.478046	0.84747	.	.	ENSG00000158321	ENST00000406775;ENST00000342771	T;T	0.11821	2.74;2.74	5.38	5.38	0.77491	.	0.189271	0.41097	D	0.000957	T	0.29190	0.0726	L	0.42245	1.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.01048	-1.1469	9	.	.	.	-26.4159	14.5974	0.68417	0.0:0.0:0.0:1.0	.	448;448	Q8WXX7-2;Q8WXX7	.;AUTS2_HUMAN	P	448	ENSP00000385263:L448P;ENSP00000344087:L448P	.	L	+	2	0	AUTS2	69867802	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.896000	0.48656	2.046000	0.60703	0.496000	0.49642	CTC		0.652	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			5	43	0	0	0	1	0	5	43				
TAMM41	132001	broad.mit.edu	37	3	11887995	11887995	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr3:11887995C>T	ENST00000444133.2	-	1	258	c.116G>A	c.(115-117)gGg>gAg	p.G39E	TAMM41_ENST00000455809.1_Missense_Mutation_p.G39E|TAMM41_ENST00000273037.5_Missense_Mutation_p.G39E			Q96BW9	TAM41_HUMAN	TAM41, mitochondrial translocator assembly and maintenance protein, homolog (S. cerevisiae)	39					cardiolipin biosynthetic process (GO:0032049)|CDP-diacylglycerol biosynthetic process (GO:0016024)	extrinsic component of mitochondrial inner membrane (GO:0031314)	phosphatidate cytidylyltransferase activity (GO:0004605)										TGAACTCGGCCCTGCCTGGCG	0.622																																						ENST00000444133.2																			0											c.(115-117)gGg>gAg		TAM41, mitochondrial translocator assembly and maintenance protein, homolog (S. cerevisiae)							64.0	64.0	64.0					3																	11887995		2203	4300	6503	SO:0001583	missense	132001				protein import into mitochondrial matrix	extrinsic to mitochondrial inner membrane		g.chr3:11887995C>T		CCDS2607.1, CCDS68345.1	3p25.2	2013-10-18	2011-08-09	2011-08-09	ENSG00000144559	ENSG00000144559			25187	protein-coding gene	gene with protein product		614948	"""chromosome 3 open reading frame 31"""	C3orf31		19237595	Standard	XM_005264873		Approved	MGC16471, DKFZp434E0519	uc003bwh.3	Q96BW9	OTTHUMG00000129741	ENST00000444133.2:c.116G>A	3.37:g.11887995C>T	ENSP00000388598:p.Gly39Glu					TAMM41_ENST00000273037.5_Missense_Mutation_p.G39E|TAMM41_ENST00000455809.1_Missense_Mutation_p.G39E	p.G39E			Q96BW9	MMP37_HUMAN			1	258	-			39					B4DIY7|C9J2U4	Missense_Mutation	SNP	ENST00000444133.2	37	c.116G>A		.	.	.	.	.	.	.	.	.	.	C	21.4	4.142886	0.77888	.	.	ENSG00000144559	ENST00000455809;ENST00000273037;ENST00000444133	T;T;T	0.32272	1.46;1.46;1.46	4.71	4.71	0.59529	.	0.118505	0.56097	D	0.000025	T	0.54062	0.1835	M	0.82323	2.585	0.58432	D	0.999999	D;P;P	0.63880	0.993;0.893;0.72	P;P;P	0.61940	0.896;0.658;0.725	T	0.58284	-0.7663	10	0.51188	T	0.08	-34.6949	13.039	0.58889	0.0:1.0:0.0:0.0	.	39;39;39	B4DIY7;C9J2U4;Q96BW9	.;.;TAM41_HUMAN	E	39	ENSP00000398596:G39E;ENSP00000273037:G39E;ENSP00000388598:G39E	ENSP00000273037:G39E	G	-	2	0	TAMM41	11862995	1.000000	0.71417	1.000000	0.80357	0.553000	0.35397	5.902000	0.69869	2.445000	0.82738	0.467000	0.42956	GGG		0.622	TAMM41-008	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000339258.2	NM_138807		49	83	0	0	0	1	0	49	83				
PCDHGA7	56108	broad.mit.edu	37	5	140763850	140763850	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr5:140763850G>A	ENST00000518325.1	+	1	1384	c.1384G>A	c.(1384-1386)Gct>Act	p.A462T	PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	462	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTCTACATCGCTGAGAACAA	0.522																																						ENST00000518325.1																			0				NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49						c.(1384-1386)Gct>Act									64.0	68.0	67.0					5																	140763850		1933	4139	6072	SO:0001583	missense	0							g.chr5:140763850G>A	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.1384G>A	5.37:g.140763850G>A	ENSP00000430024:p.Ala462Thr					PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron	p.A462T	NM_018920.2	NP_061743.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1384	+								B2RN87|Q9Y5D0	Missense_Mutation	SNP	ENST00000518325.1	37	c.1384G>A	CCDS54927.1	.	.	.	.	.	.	.	.	.	.	.	1.985	-0.433287	0.04669	.	.	ENSG00000253537	ENST00000518325	T	0.52057	0.68	5.39	1.44	0.22558	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.21509	0.0518	N	0.04746	-0.17	0.09310	N	1	B;B	0.18310	0.001;0.027	B;B	0.13407	0.007;0.009	T	0.15492	-1.0435	9	0.33940	T	0.23	.	2.6757	0.05080	0.1263:0.495:0.124:0.2547	.	462;462	Q9Y5G6;Q9Y5G6-2	PCDG7_HUMAN;.	T	462	ENSP00000430024:A462T	ENSP00000430024:A462T	A	+	1	0	PCDHGA7	140744034	0.000000	0.05858	0.190000	0.23270	0.238000	0.25445	-0.214000	0.09292	0.360000	0.24265	-0.134000	0.14843	GCT		0.522	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920		4	60	0	0	0	1	0	4	60				
UPF1	5976	broad.mit.edu	37	19	18968249	18968249	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr19:18968249C>T	ENST00000599848.1	+	15	2331	c.2122C>T	c.(2122-2124)Cgc>Tgc	p.R708C	UPF1_ENST00000262803.5_Missense_Mutation_p.R697C			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	708					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CCGGCCCATCCGCCTGCAGGT	0.642																																						ENST00000262803.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(2089-2091)Cgc>Tgc		UPF1 regulator of nonsense transcripts homolog (yeast)							36.0	37.0	37.0					19																	18968249		2203	4300	6503	SO:0001583	missense	5976				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding	g.chr19:18968249C>T	AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"""UP Frameshift 1"", ""smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	601430	"""regulator of nonsense transcripts 1"""	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.2122C>T	19.37:g.18968249C>T	ENSP00000470142:p.Arg708Cys					UPF1_ENST00000599848.1_Missense_Mutation_p.R708C	p.R697C	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN			15	2361	+			708					O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	ENST00000599848.1	37	c.2089C>T		.	.	.	.	.	.	.	.	.	.	C	29.1	4.977382	0.92982	.	.	ENSG00000005007	ENST00000262803	D	0.92348	-3.02	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	D	0.96272	0.8784	M	0.85859	2.78	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.951	D	0.97064	0.9773	10	0.87932	D	0	-41.6506	16.1478	0.81583	0.0:1.0:0.0:0.0	.	708;697	Q92900;Q92900-2	RENT1_HUMAN;.	C	697	ENSP00000262803:R697C	ENSP00000262803:R697C	R	+	1	0	UPF1	18829249	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.430000	0.80321	2.159000	0.67721	0.561000	0.74099	CGC		0.642	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911		43	54	0	0	0	1	0	43	54				
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G	rs372894655	byFrequency	TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532			T	MLL	ALL								A|||	612	0.122204	0.1505	0.1066	5008	,	,		12422	0.0833		0.0716	False		,,,				2504	0.1871					ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		19	Substitution - coding silent(19)	p.S167S(19)	lung(8)|kidney(5)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(499-501)agT>agC		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414343		1537	3257	4794	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414343A>G	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.501T>C	9.37:g.20414343A>G						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S	p.S167S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	787	-			167			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.501T>C	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		5	77	0	0	0	1	0	5	77				
ADAM21P1	145241	broad.mit.edu	37	14	70713742	70713742	+	RNA	SNP	G	G	T	rs371307290		TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr14:70713742G>T	ENST00000530196.1	-	0	776					NR_003951.1				ADAM metallopeptidase domain 21 pseudogene 1																		CCACAACAACGAGCTCCAGAA	0.433																																						ENST00000530196.1																			0																																																			0							g.chr14:70713742G>T			14q24.2	2014-03-25	2010-01-12	2010-01-12	ENSG00000235812	ENSG00000235812			19822	pseudogene	pseudogene			"""a disintegrin and metalloproteinase domain 21 pseudogene"", ""ADAM metallopeptidase domain 21 pseudogene"""	ADAM21P			Standard	NR_003951		Approved		uc010ttg.2		OTTHUMG00000166565		14.37:g.70713742G>T								NR_003951.1						0	776	-									RNA	SNP	ENST00000530196.1	37																																																																																						0.433	ADAM21P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390451.1	NG_002467		5	103	1	0	1.26484e-09	1	1.34592e-09	5	103				
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	159482639	159482639	+	Silent	SNP	C	C	A			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr3:159482639C>A	ENST00000460298.1	+	2	631	c.390C>A	c.(388-390)ccC>ccA	p.P130P	IQCJ-SCHIP1_ENST00000476809.1_Silent_p.P206P|IQCJ-SCHIP1_ENST00000337808.6_Silent_p.P157P|IQCJ-SCHIP1-AS1_ENST00000460574.1_RNA|IQCJ-SCHIP1_ENST00000527095.1_Intron|IQCJ-SCHIP1_ENST00000412423.2_Silent_p.P157P|IQCJ-SCHIP1_ENST00000485419.1_Silent_p.P233P					IQCJ-SCHIP1 readthrough											central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						AGCACGACCCCCAGGACCTCA	0.756																																						ENST00000337808.6																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						c.(469-471)ccC>ccA									5.0	4.0	5.0					3																	159482639		1831	3629	5460	SO:0001819	synonymous_variant	0					cytoplasm	identical protein binding|protein binding	g.chr3:159482639C>A		CCDS56289.1, CCDS56291.1	3q25.33	2011-03-24			ENSG00000250588	ENSG00000250588			38842	other	readthrough							Standard	NM_001197113		Approved		uc003fcq.2		OTTHUMG00000162426	ENST00000460298.1:c.390C>A	3.37:g.159482639C>A						IQCJ-SCHIP1_ENST00000412423.2_Silent_p.P157P|IQCJ-SCHIP1_ENST00000460298.1_Silent_p.P130P|IQCJ-SCHIP1_ENST00000527095.1_Intron|IQCJ-SCHIP1_ENST00000476809.1_Silent_p.P206P|IQCJ-SCHIP1_ENST00000485419.1_Silent_p.P233P	p.P157P	NM_001197107.1|NM_014575.3	NP_001184036.1|NP_055390.1	Q9P0W5	SCHI1_HUMAN			2	1048	+			157						Silent	SNP	ENST00000460298.1	37	c.471C>A																																																																																					0.756	IQCJ-SCHIP1-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000352558.2	NM_001197113		7	10	1	0	0.0381472	1	0.0386124	7	10				
FRG1B	284802	broad.mit.edu	37	20	29628263	29628263	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr20:29628263A>G	ENST00000278882.3	+	6	645	c.265A>G	c.(265-267)Att>Gtt	p.I89V	FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V|FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	89								p.I89V(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAGCTGCTTTATTAGATGCAA	0.363																																						ENST00000278882.3																			4	Substitution - Missense(4)	p.I89V(4)	prostate(2)|kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(265-267)Att>Gtt																																						SO:0001583	missense	0							g.chr20:29628263A>G			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.265A>G	20.37:g.29628263A>G	ENSP00000278882:p.Ile89Val					FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V|FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V	p.I89V							6	645	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.265A>G		.	.	.	.	.	.	.	.	.	.	a	8.196	0.797144	0.16327	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.44482	0.92	2.08	2.08	0.27032	Actin cross-linking (1);	0.052017	0.85682	D	0.000000	T	0.22666	0.0547	.	.	.	0.33862	D	0.633895	B;B	0.06786	0.0;0.001	B;B	0.20767	0.018;0.031	T	0.12041	-1.0563	9	0.22706	T	0.39	.	3.8663	0.09018	0.8139:0.0:0.1861:0.0	.	94;89	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	V	89;94;89	ENSP00000408863:I94V	ENSP00000278882:I89V	I	+	1	0	FRG1B	28241924	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.345000	0.59360	1.208000	0.43306	0.347000	0.21830	ATT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		8	156	0	0	0	1	0	8	156				
CIB1	10519	broad.mit.edu	37	15	90775542	90775542	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr15:90775542C>A	ENST00000328649.6	-	3	265	c.104G>T	c.(103-105)tGt>tTt	p.C35F	GDPGP1_ENST00000558017.1_5'Flank	NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	calcium and integrin binding 1 (calmyrin)	35					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell division (GO:0051301)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to growth factor stimulus (GO:0071363)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to tumor necrosis factor (GO:0071356)|cytoplasmic microtubule organization (GO:0031122)|double-strand break repair (GO:0006302)|endomitotic cell cycle (GO:0007113)|extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|platelet formation (GO:0030220)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of male germ cell proliferation (GO:2000256)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell division (GO:0051302)|regulation of cell proliferation (GO:0042127)|response to ischemia (GO:0002931)|spermatid development (GO:0007286)|thrombopoietin-mediated signaling pathway (GO:0038163)	cell periphery (GO:0071944)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|protein anchor (GO:0043495)|Ras GTPase binding (GO:0017016)			lung(1)|prostate(1)	2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			AAGCAGCTCACAAAACCGCCT	0.587																																						ENST00000328649.6																			0				lung(1)|prostate(1)	2						c.(103-105)tGt>tTt		calcium and integrin binding 1 (calmyrin)							49.0	48.0	48.0					15																	90775542		2199	4298	6497	SO:0001583	missense	10519				apoptosis|cell adhesion|double-strand break repair	apical plasma membrane|endoplasmic reticulum|filopodium|nucleoplasm	calcium ion binding|protein binding	g.chr15:90775542C>A	U82226	CCDS10360.1, CCDS73781.1	15q25.3-q26	2013-01-10			ENSG00000185043	ENSG00000185043		"""EF-hand domain containing"""	16920	protein-coding gene	gene with protein product		602293				9030514, 10826701	Standard	NM_006384		Approved	SIP2-28, CALMYRIN, CIB, KIP	uc031qtq.1	Q99828	OTTHUMG00000149808	ENST00000328649.6:c.104G>T	15.37:g.90775542C>A	ENSP00000333873:p.Cys35Phe						p.C35F	NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)		3	265	-	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		35					B5BU40|H6WJF3|O00693|O00735|Q6IB49|Q96J54|Q99971	Missense_Mutation	SNP	ENST00000328649.6	37	c.104G>T	CCDS10360.1	.	.	.	.	.	.	.	.	.	.	C	8.365	0.833964	0.16820	.	.	ENSG00000185043	ENST00000328649	T	0.09073	3.02	5.54	3.54	0.40534	EF-hand-like domain (1);	0.296074	0.39687	N	0.001295	T	0.07143	0.0181	L	0.34521	1.04	0.35816	D	0.824264	B	0.27700	0.186	B	0.33690	0.168	T	0.25117	-1.0141	10	0.11485	T	0.65	-6.3598	10.3555	0.43960	0.1513:0.7031:0.1456:0.0	.	35	Q99828	CIB1_HUMAN	F	35	ENSP00000333873:C35F	ENSP00000333873:C35F	C	-	2	0	CIB1	88576546	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	0.553000	0.23391	1.543000	0.49345	0.650000	0.86243	TGT		0.587	CIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313419.1			7	39	1	0	9.80977e-26	1	1.07133e-25	7	39				
SERPINH1	871	broad.mit.edu	37	11	75277978	75277978	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr11:75277978C>T	ENST00000524558.1	+	2	2019	c.584C>T	c.(583-585)aCg>aTg	p.T195M	SERPINH1_ENST00000525876.1_5'Flank|SERPINH1_ENST00000530284.1_Missense_Mutation_p.T195M|SERPINH1_ENST00000358171.3_Missense_Mutation_p.T195M|SERPINH1_ENST00000533603.1_Missense_Mutation_p.T195M			P50454	SERPH_HUMAN	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	195					chondrocyte development involved in endochondral bone morphogenesis (GO:0003433)|collagen biosynthetic process (GO:0032964)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|protein maturation (GO:0051604)|regulation of proteolysis (GO:0030162)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					GTGGAGCGCACGGACGGCGCC	0.662																																						ENST00000524558.1																			0				endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15						c.(583-585)aCg>aTg		serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)							34.0	33.0	33.0					11																	75277978		2200	4291	6491	SO:0001583	missense	871				regulation of proteolysis|response to unfolded protein	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	collagen binding|serine-type endopeptidase inhibitor activity	g.chr11:75277978C>T	X61598	CCDS8239.1	11q13.5	2014-02-18	2005-08-18		ENSG00000149257	ENSG00000149257		"""Serine (or cysteine) peptidase inhibitors"""	1546	protein-coding gene	gene with protein product		600943	"""serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 2"", ""serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)"""	CBP1, CBP2, SERPINH2		7656593, 9533029, 24172014	Standard	NM_001207014		Approved	HSP47, colligen	uc001owr.3	P50454	OTTHUMG00000165362	ENST00000524558.1:c.584C>T	11.37:g.75277978C>T	ENSP00000434412:p.Thr195Met					SERPINH1_ENST00000533603.1_Missense_Mutation_p.T195M|SERPINH1_ENST00000358171.3_Missense_Mutation_p.T195M|SERPINH1_ENST00000530284.1_Missense_Mutation_p.T195M	p.T195M			P50454	SERPH_HUMAN			2	2019	+	Ovarian(111;0.11)		195					B3KVJ3|P29043|Q5XPB4|Q6NSJ6|Q8IY96|Q9NP88	Missense_Mutation	SNP	ENST00000524558.1	37	c.584C>T	CCDS8239.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.057063	0.36277	.	.	ENSG00000149257	ENST00000533603;ENST00000358171;ENST00000526397;ENST00000421448;ENST00000530284;ENST00000532356;ENST00000524558;ENST00000525611;ENST00000528760	D;D;D;D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33;-2.33;-2.33;-2.33;-2.33	4.66	4.66	0.58398	Serpin domain (3);	0.104475	0.64402	D	0.000005	T	0.77585	0.4152	L	0.29908	0.895	0.80722	D	1	P;P	0.40660	0.726;0.476	B;B	0.31495	0.131;0.057	T	0.78041	-0.2359	10	0.30078	T	0.28	.	15.0624	0.71964	0.0:1.0:0.0:0.0	.	195;195	E9PPV6;P50454	.;SERPH_HUMAN	M	195;195;195;174;195;195;195;195;195	ENSP00000434657:T195M;ENSP00000350894:T195M;ENSP00000434964:T195M;ENSP00000436305:T195M;ENSP00000436040:T195M;ENSP00000434412:T195M;ENSP00000435452:T195M;ENSP00000437108:T195M	ENSP00000350894:T195M	T	+	2	0	SERPINH1	74955626	1.000000	0.71417	0.920000	0.36463	0.871000	0.50021	5.954000	0.70298	2.140000	0.66376	0.563000	0.77884	ACG		0.662	SERPINH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383610.1	NM_004353		28	85	0	0	0	1	0	28	85				
IPO4	79711	broad.mit.edu	37	14	24651580	24651580	+	Silent	SNP	G	G	A			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr14:24651580G>A	ENST00000354464.6	-	25	2678	c.2502C>T	c.(2500-2502)caC>caT	p.H834H	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	834					DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		CCTCTCCAGCGTGCTCCAGCA	0.622																																						ENST00000354464.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33						c.(2500-2502)caC>caT		importin 4							22.0	26.0	25.0					14																	24651580		2095	4220	6315	SO:0001819	synonymous_variant	79711				intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr14:24651580G>A	AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"""Importins"""	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801	ENST00000354464.6:c.2502C>T	14.37:g.24651580G>A						RP11-468E2.2_ENST00000561419.1_3'UTR	p.H834H	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN		GBM - Glioblastoma multiforme(265;0.0087)	25	2678	-			834					B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Silent	SNP	ENST00000354464.6	37	c.2502C>T	CCDS9616.1																																																																																				0.622	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4	NM_024658		17	27	0	0	0	1	0	17	27				
SP6	80320	broad.mit.edu	37	17	45925200	45925200	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr17:45925200G>A	ENST00000536300.1	-	2	927	c.596C>T	c.(595-597)tCt>tTt	p.S199F	SP6_ENST00000342234.2_Missense_Mutation_p.S199F	NM_001258248.1	NP_001245177.1	Q3SY56	SP6_HUMAN	Sp6 transcription factor	199					positive regulation of cell proliferation (GO:0008284)|regulation of odontogenesis (GO:0042481)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)|lung(5)|prostate(1)|skin(1)	8						CAGCCCTTGAGACTCCGGGGC	0.716																																						ENST00000536300.1																			0				large_intestine(1)|lung(5)|prostate(1)|skin(1)	8						c.(595-597)tCt>tTt		Sp6 transcription factor							5.0	6.0	6.0					17																	45925200		1847	3797	5644	SO:0001583	missense	80320				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:45925200G>A		CCDS11520.1	17q21.32	2013-01-08			ENSG00000189120	ENSG00000189120		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	14530	protein-coding gene	gene with protein product	"""epiprofin"""	608613				11087666, 14551215	Standard	NM_001258248		Approved	KLF14, Epfn	uc002img.2	Q3SY56	OTTHUMG00000132067	ENST00000536300.1:c.596C>T	17.37:g.45925200G>A	ENSP00000438209:p.Ser199Phe					SP6_ENST00000342234.2_Missense_Mutation_p.S199F	p.S199F	NM_001258248.1	NP_001245177.1	Q3SY56	SP6_HUMAN			2	927	-			199					B3KXS4	Missense_Mutation	SNP	ENST00000536300.1	37	c.596C>T	CCDS11520.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.968108	0.53614	.	.	ENSG00000189120	ENST00000342234;ENST00000536300	T;T	0.08720	3.06;3.06	4.5	4.5	0.54988	.	0.364590	0.20211	N	0.096909	T	0.08447	0.0210	L	0.34521	1.04	0.42739	D	0.993737	B	0.22604	0.072	B	0.20384	0.029	T	0.26608	-1.0098	10	0.27785	T	0.31	.	16.1357	0.81487	0.0:0.0:1.0:0.0	.	199	Q3SY56	SP6_HUMAN	F	199	ENSP00000340799:S199F;ENSP00000438209:S199F	ENSP00000340799:S199F	S	-	2	0	SP6	43280199	0.349000	0.24870	0.999000	0.59377	0.965000	0.64279	3.193000	0.50997	2.324000	0.78689	0.462000	0.41574	TCT		0.716	SP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441395.1	NM_199262		11	15	0	0	0	1	0	11	15				
MYO5B	4645	broad.mit.edu	37	18	47566657	47566657	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr18:47566657G>A	ENST00000285039.7	-	3	465	c.166C>T	c.(166-168)Cgc>Tgc	p.R56C		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	56					endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		AGCTGGTTGCGTTGTACATCA	0.423																																						ENST00000285039.7																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87						c.(166-168)Cgc>Tgc		myosin VB							285.0	276.0	279.0					18																	47566657		1969	4164	6133	SO:0001583	missense	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47566657G>A	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.166C>T	18.37:g.47566657G>A	ENSP00000285039:p.Arg56Cys						p.R56C	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	3	465	-			56			Myosin head-like.		B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	c.166C>T	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	g	11.47	1.648194	0.29336	.	.	ENSG00000167306	ENST00000285039;ENST00000356732	D	0.95342	-3.68	5.95	0.703	0.18116	.	0.983709	0.08333	N	0.962025	D	0.87414	0.6171	N	0.11560	0.145	0.09310	N	1	P;B	0.45715	0.865;0.002	P;B	0.46339	0.513;0.0	T	0.80261	-0.1456	10	0.54805	T	0.06	.	1.3274	0.02128	0.2283:0.1346:0.1268:0.5103	.	55;56	Q7Z7A5;Q9ULV0	.;MYO5B_HUMAN	C	56;55	ENSP00000285039:R56C	ENSP00000285039:R56C	R	-	1	0	MYO5B	45820655	0.000000	0.05858	0.046000	0.18839	0.074000	0.17049	-0.017000	0.12590	0.165000	0.19558	-1.480000	0.00990	CGC		0.423	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			121	225	0	0	0	1	0	121	225				
GIGYF2	26058	broad.mit.edu	37	2	233714984	233714984	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr2:233714984G>A	ENST00000409547.1	+	30	4008	c.3697G>A	c.(3697-3699)Ggg>Agg	p.G1233R	GIGYF2_ENST00000409451.3_Missense_Mutation_p.G1254R|GIGYF2_ENST00000373563.4_Missense_Mutation_p.G1233R|GIGYF2_ENST00000409196.3_Missense_Mutation_p.G1227R|GIGYF2_ENST00000409480.1_Missense_Mutation_p.G1255R|GIGYF2_ENST00000373566.3_Missense_Mutation_p.G1255R	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	1233	Gln-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		CTCTGTGTGGGGGATGAACCA	0.433																																						ENST00000373566.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63						c.(3763-3765)Ggg>Agg		GRB10 interacting GYF protein 2							142.0	130.0	134.0					2																	233714984		2203	4300	6503	SO:0001583	missense	26058				cell death		protein binding	g.chr2:233714984G>A	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.3697G>A	2.37:g.233714984G>A	ENSP00000386537:p.Gly1233Arg					GIGYF2_ENST00000409480.1_Missense_Mutation_p.G1255R|GIGYF2_ENST00000409547.1_Missense_Mutation_p.G1233R|GIGYF2_ENST00000409451.3_Missense_Mutation_p.G1254R|GIGYF2_ENST00000409196.3_Missense_Mutation_p.G1227R|GIGYF2_ENST00000373563.4_Missense_Mutation_p.G1233R	p.G1255R			Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	29	3960	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	1233					A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Missense_Mutation	SNP	ENST00000409547.1	37	c.3763G>A	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.857903	0.91433	.	.	ENSG00000204120	ENST00000373566;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000409196;ENST00000409451	T;T;T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53;-0.53;-0.53	5.49	5.49	0.81192	.	0.159639	0.56097	D	0.000031	T	0.73001	0.3531	L	0.34521	1.04	0.80722	D	1	P;P;P	0.52577	0.954;0.954;0.954	P;P;P	0.55785	0.784;0.784;0.784	T	0.69877	-0.5026	10	0.32370	T	0.25	-23.8564	17.9206	0.88965	0.0:0.0:1.0:0.0	.	1254;1233;1227	A6H8W4;Q6Y7W6;E9PBB0	.;PERQ2_HUMAN;.	R	1255;1233;1255;1233;1227;1254	ENSP00000362667:G1255R;ENSP00000362664:G1233R;ENSP00000386765:G1255R;ENSP00000386537:G1233R;ENSP00000387070:G1227R;ENSP00000387170:G1254R	ENSP00000362664:G1233R	G	+	1	0	GIGYF2	233423228	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.380000	0.90149	2.734000	0.93682	0.655000	0.94253	GGG		0.433	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		6	100	0	0	0	1	0	6	100				
RBFOX1	54715	broad.mit.edu	37	16	7568267	7568267	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr16:7568267C>T	ENST00000550418.1	+	5	1134	c.146C>T	c.(145-147)gCg>gTg	p.A49V	RBFOX1_ENST00000552089.1_Missense_Mutation_p.A85V|RBFOX1_ENST00000547372.1_Missense_Mutation_p.A92V|RBFOX1_ENST00000553186.1_Missense_Mutation_p.A49V|RBFOX1_ENST00000547338.1_Missense_Mutation_p.A49V|RBFOX1_ENST00000311745.5_Missense_Mutation_p.A69V|RBFOX1_ENST00000422070.4_Missense_Mutation_p.A92V|RBFOX1_ENST00000340209.4_Missense_Mutation_p.A54V|RBFOX1_ENST00000355637.4_Missense_Mutation_p.A69V|RBFOX1_ENST00000535565.2_Missense_Mutation_p.A85V|RBFOX1_ENST00000436368.2_Missense_Mutation_p.A69V	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	49					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CCCCACCCCGCGCCAGAGTAC	0.657																																					Ovarian(157;934 2567 15163 39509)	ENST00000340209.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						c.(160-162)gCg>gTg		RNA binding protein, fox-1 homolog (C. elegans) 1							116.0	113.0	114.0					16																	7568267		2197	4300	6497	SO:0001583	missense	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7568267C>T	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.146C>T	16.37:g.7568267C>T	ENSP00000450031:p.Ala49Val					RBFOX1_ENST00000547338.1_Missense_Mutation_p.A49V|RBFOX1_ENST00000552089.1_Missense_Mutation_p.A85V|RBFOX1_ENST00000547372.1_Missense_Mutation_p.A92V|RBFOX1_ENST00000355637.4_Missense_Mutation_p.A69V|RBFOX1_ENST00000436368.2_Missense_Mutation_p.A69V|RBFOX1_ENST00000553186.1_Missense_Mutation_p.A49V|RBFOX1_ENST00000550418.1_Missense_Mutation_p.A49V|RBFOX1_ENST00000422070.4_Missense_Mutation_p.A92V|RBFOX1_ENST00000311745.5_Missense_Mutation_p.A69V|RBFOX1_ENST00000535565.2_Missense_Mutation_p.A85V	p.A54V			Q9NWB1	RFOX1_HUMAN			2	458	+			49					Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	ENST00000550418.1	37	c.161C>T	CCDS55983.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.044648	0.75732	.	.	ENSG00000078328	ENST00000547605;ENST00000550418;ENST00000553186;ENST00000547372;ENST00000422070;ENST00000535565;ENST00000552089;ENST00000551752;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000355637;ENST00000352951;ENST00000340209	T;T;T;T;T;T;T;T;T;T;T	0.35048	1.84;1.38;1.7;1.66;1.67;1.77;1.38;1.44;1.61;1.58;1.33	4.85	4.85	0.62838	.	0.296529	0.32244	N	0.006367	T	0.28532	0.0706	N	0.08118	0	0.44359	D	0.997252	P;D;P;P;B;D;B;B;D	0.62365	0.533;0.991;0.936;0.759;0.278;0.985;0.24;0.351;0.969	B;P;B;B;B;B;B;B;P	0.47891	0.091;0.481;0.173;0.245;0.157;0.352;0.065;0.109;0.56	T	0.23797	-1.0178	10	0.46703	T	0.11	-2.3794	17.9952	0.89181	0.0:1.0:0.0:0.0	.	69;85;92;69;69;69;49;49;92	F8WAC5;F5H0M1;B7Z1U7;Q9NWB1-2;Q9NWB1-4;Q9NWB1-5;Q9NWB1-3;Q9NWB1;F8VZG9	.;.;.;.;.;.;.;RFOX1_HUMAN;.	V	49;49;49;92;92;85;85;49;49;69;69;69;69;54	ENSP00000450402:A49V;ENSP00000450031:A49V;ENSP00000447753:A49V;ENSP00000446842:A92V;ENSP00000391269:A92V;ENSP00000447281:A49V;ENSP00000447717:A49V;ENSP00000402745:A69V;ENSP00000309117:A69V;ENSP00000347855:A69V;ENSP00000344196:A54V	ENSP00000309117:A69V	A	+	2	0	RBFOX1	7508268	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.970000	0.76099	2.222000	0.72286	0.557000	0.71058	GCG		0.657	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		108	153	0	0	0	1	0	108	153				
MAPKAPK2	9261	broad.mit.edu	37	1	206904037	206904037	+	Silent	SNP	A	A	C			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr1:206904037A>C	ENST00000367103.3	+	6	889	c.696A>C	c.(694-696)ccA>ccC	p.P232P	MAPKAPK2_ENST00000294981.4_Silent_p.P232P	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	mitogen-activated protein kinase-activated protein kinase 2	232	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|arachidonic acid metabolic process (GO:0019369)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|G2 DNA damage checkpoint (GO:0031572)|gene expression (GO:0010467)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|leukotriene metabolic process (GO:0006691)|macropinocytosis (GO:0044351)|MAPK cascade (GO:0000165)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of interleukin-6 production (GO:0032675)|regulation of tumor necrosis factor production (GO:0032680)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			TTGCAGCTCCAGAAGTGCTGG	0.552																																						ENST00000367103.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19						c.(694-696)ccA>ccC		mitogen-activated protein kinase-activated protein kinase 2							118.0	111.0	114.0					1																	206904037		2203	4300	6503	SO:0001819	synonymous_variant	9261				activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|prostanoid metabolic process|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr1:206904037A>C	U12779	CCDS1466.1, CCDS31001.1	1q32	2008-02-05			ENSG00000162889	ENSG00000162889			6887	protein-coding gene	gene with protein product		602006				8179591, 8280084	Standard	NM_004759		Approved		uc001hem.2	P49137	OTTHUMG00000036342	ENST00000367103.3:c.696A>C	1.37:g.206904037A>C						MAPKAPK2_ENST00000294981.4_Silent_p.P232P	p.P232P	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.211)		6	889	+	Breast(84;0.183)		232			Protein kinase.		Q5SY30|Q5SY41|Q8IYD6	Silent	SNP	ENST00000367103.3	37	c.696A>C	CCDS31001.1																																																																																				0.552	MAPKAPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088465.1	NM_004759		27	55	0	0	0	1	0	27	55				
PASD1	139135	broad.mit.edu	37	X	150793999	150793999	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chrX:150793999T>C	ENST00000370357.4	+	8	871	c.626T>C	c.(625-627)cTc>cCc	p.L209P		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	209						nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					GTGGGAGAGCTCAGGTGAGAG	0.333																																						ENST00000370357.4																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(625-627)cTc>cCc		PAS domain containing 1							173.0	171.0	172.0					X																	150793999		2203	4300	6503	SO:0001583	missense	139135					nucleus	signal transducer activity	g.chrX:150793999T>C	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.626T>C	X.37:g.150793999T>C	ENSP00000359382:p.Leu209Pro						p.L209P	NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN			8	871	+	Acute lymphoblastic leukemia(192;6.56e-05)		209					Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	ENST00000370357.4	37	c.626T>C	CCDS35431.1	.	.	.	.	.	.	.	.	.	.	T	9.241	1.038367	0.19669	.	.	ENSG00000166049	ENST00000370357	T	0.70045	-0.45	4.52	-9.05	0.00730	.	.	.	.	.	T	0.43964	0.1271	N	0.24115	0.695	0.23076	N	0.998339	P	0.49253	0.921	B	0.43701	0.428	T	0.52124	-0.8617	9	0.72032	D	0.01	-18.4634	2.5024	0.04637	0.4675:0.202:0.2301:0.1004	.	209	Q8IV76	PASD1_HUMAN	P	209	ENSP00000359382:L209P	ENSP00000359382:L209P	L	+	2	0	PASD1	150544655	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.057000	0.00625	-2.498000	0.00512	-1.444000	0.01066	CTC		0.333	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		70	217	0	0	0	1	0	70	217				
MYO15A	51168	broad.mit.edu	37	17	18053797	18053797	+	Missense_Mutation	SNP	G	G	A	rs530783345		TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr17:18053797G>A	ENST00000205890.5	+	36	7605	c.7267G>A	c.(7267-7269)Ggt>Agt	p.G2423S	MYO15A_ENST00000418233.3_5'Flank	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2423	Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGGCCAGCCCGGTGGAGGCAG	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		17268	0.001		0.0	False		,,,				2504	0.0					ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(7267-7269)Ggt>Agt		myosin XVA							63.0	79.0	74.0					17																	18053797		2126	4246	6372	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18053797G>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.7267G>A	17.37:g.18053797G>A	ENSP00000205890:p.Gly2423Ser						p.G2423S	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			36	7605	+	all_neural(463;0.228)		2423			Tail.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.7267G>A	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	9.784	1.175990	0.21704	.	.	ENSG00000091536	ENST00000205890	D	0.90324	-2.65	4.67	-0.308	0.12773	.	.	.	.	.	D	0.86393	0.5922	L	0.53249	1.67	0.09310	N	1	B	0.19445	0.036	B	0.12837	0.008	T	0.73569	-0.3941	9	0.33940	T	0.23	.	10.9018	0.47056	0.2928:0.0:0.7072:0.0	.	2423	Q9UKN7	MYO15_HUMAN	S	2423	ENSP00000205890:G2423S	ENSP00000205890:G2423S	G	+	1	0	MYO15A	17994522	0.084000	0.21492	0.185000	0.23176	0.113000	0.19764	1.122000	0.31295	0.078000	0.16900	-1.810000	0.00614	GGT		0.617	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		33	64	0	0	0	1	0	33	64				
KSR1	8844	broad.mit.edu	37	17	25783753	25783753	+	Silent	SNP	A	A	T	rs201471613		TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr17:25783753A>T	ENST00000319524.6	+	1	84	c.84A>T	c.(82-84)ggA>ggT	p.G28G	KSR1_ENST00000509603.2_Silent_p.G28G			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	28					Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CCGCGGAGGGAGGCGCAGGGG	0.741																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)	ENST00000319524.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28						c.(82-84)ggA>ggT		kinase suppressor of ras 1							8.0	9.0	8.0					17																	25783753		862	1953	2815	SO:0001819	synonymous_variant	8844				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:25783753A>T	U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"""kinase suppressor of ras"""	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.84A>T	17.37:g.25783753A>T						KSR1_ENST00000509603.2_Silent_p.G28G	p.G28G			Q8IVT5	KSR1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	1	84	+	Lung NSC(42;0.00836)		26					F8WEA9|H7BYU0|Q13476	Silent	SNP	ENST00000319524.6	37	c.84A>T																																																																																					0.741	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_014238		3	30	0	0	0	1	0	3	30				
GPR128	84873	broad.mit.edu	37	3	100373800	100373800	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr3:100373800G>A	ENST00000273352.3	+	12	1769	c.1501G>A	c.(1501-1503)Ggt>Agt	p.G501S	GPR128_ENST00000475887.1_Missense_Mutation_p.G206S|GPR128_ENST00000481506.1_3'UTR	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	501					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						GACAAGTGATGGTGACATCAA	0.408																																					Pancreas(87;185 1975 7223 18722)	ENST00000273352.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						c.(1501-1503)Ggt>Agt		G protein-coupled receptor 128							175.0	154.0	161.0					3																	100373800		2203	4300	6503	SO:0001583	missense	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100373800G>A	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.1501G>A	3.37:g.100373800G>A	ENSP00000273352:p.Gly501Ser					GPR128_ENST00000481506.1_3'UTR|GPR128_ENST00000475887.1_Missense_Mutation_p.G206S	p.G501S	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN			12	1769	+			501					Q14D94|Q86SQ2	Missense_Mutation	SNP	ENST00000273352.3	37	c.1501G>A	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	G	1.201	-0.632562	0.03584	.	.	ENSG00000144820	ENST00000273352;ENST00000475887	T;T	0.41400	1.0;1.0	5.48	-2.66	0.06077	GPCR, family 2-like (1);	1.248000	0.05273	N	0.517933	T	0.11665	0.0284	N	0.00683	-1.26	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.003	T	0.26643	-1.0097	10	0.07325	T	0.83	.	6.6253	0.22826	0.4057:0.143:0.4513:0.0	.	206;501	E9PHI0;Q96K78	.;GP128_HUMAN	S	501;206	ENSP00000273352:G501S;ENSP00000419788:G206S	ENSP00000273352:G501S	G	+	1	0	GPR128	101856490	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.947000	0.03901	-0.485000	0.06754	-0.150000	0.13652	GGT		0.408	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			58	77	0	0	0	1	0	58	77				
NOS1AP	9722	broad.mit.edu	37	1	162313698	162313698	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr1:162313698C>T	ENST00000361897.5	+	6	929	c.527C>T	c.(526-528)aCg>aTg	p.T176M	MIR556_ENST00000384996.1_RNA|NOS1AP_ENST00000530878.1_Missense_Mutation_p.T171M	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	176	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			CTGCAGCACACGCAGCAGAAT	0.582																																						ENST00000361897.5																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32						c.(526-528)aCg>aTg		nitric oxide synthase 1 (neuronal) adaptor protein							115.0	104.0	108.0					1																	162313698		2203	4300	6503	SO:0001583	missense	9722				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding	g.chr1:162313698C>T	AB007933	CCDS1237.1, CCDS44267.1, CCDS53421.1	1q23.3	2010-08-20			ENSG00000198929	ENSG00000198929			16859	protein-coding gene	gene with protein product	"""C-terminal PDZ domain ligand of neuronal nitric oxide synthase"""	605551				9455484, 9459447	Standard	NM_001126060		Approved	KIAA0464, CAPON	uc001gbv.2	O75052	OTTHUMG00000024049	ENST00000361897.5:c.527C>T	1.37:g.162313698C>T	ENSP00000355133:p.Thr176Met					NOS1AP_ENST00000530878.1_Missense_Mutation_p.T171M	p.T176M	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0537)		6	929	+	all_hematologic(112;0.203)		176			PID.		B7ZLF5|O43564|Q3T551|Q5VU95	Missense_Mutation	SNP	ENST00000361897.5	37	c.527C>T	CCDS1237.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.923256	0.92319	.	.	ENSG00000198929	ENST00000530878;ENST00000361897	T;T	0.78003	-1.14;-1.14	5.79	5.79	0.91817	Phosphotyrosine interaction domain (1);Pleckstrin homology-type (1);	0.088249	0.85682	D	0.000000	T	0.66446	0.2790	L	0.50333	1.59	.	.	.	D;P;D	0.56287	0.972;0.946;0.975	B;B;B	0.39805	0.31;0.31;0.31	T	0.73151	-0.4073	9	0.52906	T	0.07	.	18.6038	0.91259	0.0:1.0:0.0:0.0	.	171;171;176	E9PSG0;B7ZLF5;O75052	.;.;CAPON_HUMAN	M	171;176	ENSP00000431586:T171M;ENSP00000355133:T176M	ENSP00000355133:T176M	T	+	2	0	NOS1AP	160580322	0.989000	0.36119	0.970000	0.41538	0.989000	0.77384	2.867000	0.48428	2.733000	0.93635	0.655000	0.94253	ACG		0.582	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060555.2	NM_014697		49	73	0	0	0	1	0	49	73				
WDR33	55339	broad.mit.edu	37	2	128471489	128471489	+	Silent	SNP	A	A	C			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr2:128471489A>C	ENST00000322313.4	-	18	3134	c.2976T>G	c.(2974-2976)ggT>ggG	p.G992G		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	992					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		AGTCCTGGCCACCCCGGAAAG	0.662																																						ENST00000322313.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(2974-2976)ggT>ggG		WD repeat domain 33							56.0	65.0	62.0					2																	128471489		2203	4300	6503	SO:0001819	synonymous_variant	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128471489A>C		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.2976T>G	2.37:g.128471489A>C							p.G992G	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	18	3134	-	Colorectal(110;0.1)		992					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Silent	SNP	ENST00000322313.4	37	c.2976T>G	CCDS2150.1																																																																																				0.662	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		24	181	0	0	0	1	0	24	181				
KDM5B	10765	broad.mit.edu	37	1	202705465	202705465	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr1:202705465C>T	ENST00000367265.3	-	21	4304	c.3140G>A	c.(3139-3141)cGa>cAa	p.R1047Q	KDM5B_ENST00000367264.2_Missense_Mutation_p.R1083Q	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1047					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						GGGGATAGATCGGCCTCGTGT	0.428																																						ENST00000367265.3																			0				breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						c.(3139-3141)cGa>cAa		lysine (K)-specific demethylase 5B							108.0	100.0	103.0					1																	202705465		2203	4300	6503	SO:0001583	missense	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202705465C>T	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.3140G>A	1.37:g.202705465C>T	ENSP00000356234:p.Arg1047Gln					KDM5B_ENST00000367264.2_Missense_Mutation_p.R1083Q	p.R1047Q	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN			21	4304	-			1047					O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	37	c.3140G>A	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.042343	0.75732	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	T;T;T	0.46063	0.88;0.88;0.88	5.66	5.66	0.87406	Lysine-specific demethylase-like domain (1);	0.114404	0.64402	D	0.000008	T	0.49762	0.1576	L	0.45228	1.405	0.52501	D	0.99995	P;P	0.46706	0.512;0.883	B;P	0.49451	0.05;0.611	T	0.45527	-0.9255	10	0.59425	D	0.04	-11.108	20.1253	0.97977	0.0:1.0:0.0:0.0	.	1083;1047	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	Q	1047;889;1083;889	ENSP00000356234:R1047Q;ENSP00000356233:R1083Q;ENSP00000235790:R889Q	ENSP00000235790:R889Q	R	-	2	0	KDM5B	200972088	1.000000	0.71417	0.864000	0.33941	0.996000	0.88848	4.823000	0.62694	2.832000	0.97577	0.655000	0.94253	CGA		0.428	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		10	63	0	0	0	1	0	10	63				
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	82								p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L82S(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(244-246)tTg>tCg																																						SO:0001583	missense	0							g.chr20:29628243T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.245T>C	20.37:g.29628243T>C	ENSP00000278882:p.Leu82Ser					FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S	p.L82S							6	625	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.245T>C		.	.	.	.	.	.	.	.	.	.	t	12.14	1.848999	0.32699	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.147685	0.45361	D	0.000380	T	0.38665	0.1049	.	.	.	0.46185	D	0.99891	B;B	0.27656	0.03;0.184	B;B	0.35813	0.11;0.211	T	0.24548	-1.0157	9	0.38643	T	0.18	.	8.0833	0.30758	0.0:0.0:0.0:1.0	.	87;82	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	82;87;82	ENSP00000408863:L87S	ENSP00000278882:L82S	L	+	2	0	FRG1B	28241904	1.000000	0.71417	0.998000	0.56505	0.541000	0.35023	6.955000	0.76007	1.208000	0.43306	0.347000	0.21830	TTG		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	179	0	0	0	1	0	5	179				
SUCO	51430	broad.mit.edu	37	1	172558108	172558108	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr1:172558108A>G	ENST00000263688.3	+	18	2086	c.1867A>G	c.(1867-1869)Att>Gtt	p.I623V	SUCO_ENST00000367723.4_Missense_Mutation_p.I774V|SUCO_ENST00000608151.1_Missense_Mutation_p.I775V|SUCO_ENST00000610051.1_Intron	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	623					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)											ACTGACCACAATTTGTTGTAT	0.413																																						ENST00000367723.3																			0											c.(2323-2325)Att>Gtt		SUN domain containing ossification factor							91.0	93.0	92.0					1																	172558108		2203	4300	6503	SO:0001583	missense	51430							g.chr1:172558108A>G	AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"""SUN-like protein 1"", ""osteopotentia"""		"""chromosome 1 open reading frame 9"""	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.1867A>G	1.37:g.172558108A>G	ENSP00000263688:p.Ile623Val					SUCO_ENST00000263688.3_Missense_Mutation_p.I623V	p.I775V	NM_016227.2	NP_057311.2					17	2447	+								B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Missense_Mutation	SNP	ENST00000263688.3	37	c.2323A>G	CCDS1303.1	.	.	.	.	.	.	.	.	.	.	A	9.781	1.175438	0.21704	.	.	ENSG00000094975	ENST00000367723;ENST00000263688	.	.	.	5.45	2.8	0.32819	.	0.458628	0.24566	N	0.037431	T	0.11367	0.0277	L	0.29908	0.895	0.28099	N	0.931489	B;B;B	0.15473	0.003;0.013;0.004	B;B;B	0.12156	0.003;0.007;0.004	T	0.22487	-1.0215	9	0.23302	T	0.38	-8.7741	8.2097	0.31476	0.7678:0.0:0.2322:0.0	.	623;775;623	B4DZJ3;Q5H945;Q9UBS9	.;.;OSPT_HUMAN	V	775;623	.	ENSP00000263688:I623V	I	+	1	0	C1orf9	170824731	0.009000	0.17119	1.000000	0.80357	0.986000	0.74619	0.834000	0.27518	0.905000	0.36596	-0.371000	0.07208	ATT		0.413	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084273.1	NM_016227		18	24	0	0	0	1	0	18	24				
BCL11B	64919	broad.mit.edu	37	14	99641424	99641424	+	Silent	SNP	C	C	T			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr14:99641424C>T	ENST00000357195.3	-	4	1758	c.1749G>A	c.(1747-1749)gcG>gcA	p.A583A	BCL11B_ENST00000345514.2_Silent_p.A512A|BCL11B_ENST00000443726.2_Silent_p.A389A	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	583	Gly-rich.				alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GCGCCTTggccgcgccgcccc	0.731			T	TLX3	T-ALL																																	ENST00000345514.2				Dom	yes		14	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)			L	TLX3		T-ALL		0				NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34						c.(1534-1536)gcG>gcA		B-cell CLL/lymphoma 11B (zinc finger protein)							12.0	14.0	13.0					14																	99641424		2078	4016	6094	SO:0001819	synonymous_variant	64919					nucleus	zinc ion binding	g.chr14:99641424C>T	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"""Zinc fingers, C2H2-type"""	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.1749G>A	14.37:g.99641424C>T						BCL11B_ENST00000443726.2_Silent_p.A389A|BCL11B_ENST00000357195.3_Silent_p.A583A	p.A512A	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	3	1802	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	583					Q9H162	Silent	SNP	ENST00000357195.3	37	c.1536G>A	CCDS9950.1																																																																																				0.731	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		25	26	0	0	0	1	0	25	26				
SOCS6	9306	broad.mit.edu	37	18	67993430	67993430	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr18:67993430G>A	ENST00000397942.3	+	2	1842	c.1526G>A	c.(1525-1527)cGt>cAt	p.R509H	SOCS6_ENST00000582322.1_Missense_Mutation_p.R509H	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	509	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				defense response (GO:0006952)|JAK-STAT cascade (GO:0007259)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell activation (GO:0050868)|proteasomal protein catabolic process (GO:0010498)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|immunological synapse (GO:0001772)				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				TTTGTTATACGTCAGTATACC	0.468																																					Melanoma(84;1024 1361 24382 36583 42651)	ENST00000397942.3																			0				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22						c.(1525-1527)cGt>cAt		suppressor of cytokine signaling 6							87.0	75.0	79.0					18																	67993430		2203	4300	6503	SO:0001583	missense	9306				defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm		g.chr18:67993430G>A	AB006968	CCDS11998.1	18q22	2013-02-14	2004-02-25	2004-02-27	ENSG00000170677	ENSG00000170677		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16833	protein-coding gene	gene with protein product		605118	"""suppressor of cytokine signaling 4"""	SOCS4		9344848, 11042152	Standard	NM_004232		Approved	CIS4, SSI4, HSPC060, STATI4, STAI4, Cish4	uc002lkr.1	O14544	OTTHUMG00000132816	ENST00000397942.3:c.1526G>A	18.37:g.67993430G>A	ENSP00000381034:p.Arg509His					SOCS6_ENST00000582322.1_Missense_Mutation_p.R509H	p.R509H	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN			2	1842	+		Esophageal squamous(42;0.129)|Colorectal(73;0.152)	509			SOCS box.		Q8WUM3	Missense_Mutation	SNP	ENST00000397942.3	37	c.1526G>A	CCDS11998.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.093985	0.56075	.	.	ENSG00000170677	ENST00000397942	T	0.64618	-0.11	5.7	4.84	0.62591	SOCS protein, C-terminal (4);	0.182929	0.47093	N	0.000259	T	0.65238	0.2672	M	0.79614	2.46	0.80722	D	1	B	0.23316	0.083	B	0.26770	0.073	T	0.64571	-0.6376	10	0.46703	T	0.11	-11.9494	14.7201	0.69300	0.0695:0.0:0.9305:0.0	.	509	O14544	SOCS6_HUMAN	H	509	ENSP00000381034:R509H	ENSP00000381034:R509H	R	+	2	0	SOCS6	66144410	1.000000	0.71417	0.961000	0.40146	0.446000	0.32137	9.680000	0.98651	1.412000	0.46977	-0.258000	0.10820	CGT		0.468	SOCS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256270.2			34	51	0	0	0	1	0	34	51				
NOTCH3	4854	broad.mit.edu	37	19	15271838	15271838	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr19:15271838G>A	ENST00000263388.2	-	33	6676	c.6601C>T	c.(6601-6603)Ccc>Tcc	p.P2201S		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	2201					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GGGGAGACGGGGGTCCCTGGG	0.741																																						ENST00000263388.2																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(6601-6603)Ccc>Tcc		notch 3							3.0	5.0	4.0					19																	15271838		1902	3896	5798	SO:0001583	missense	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15271838G>A	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.6601C>T	19.37:g.15271838G>A	ENSP00000263388:p.Pro2201Ser						p.P2201S	NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		33	6676	-			2201					Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	c.6601C>T	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	G	1.797	-0.478125	0.04414	.	.	ENSG00000074181	ENST00000263388	T	0.81078	-1.45	3.57	2.52	0.30459	.	.	.	.	.	T	0.59810	0.2221	N	0.08118	0	0.20638	N	0.99988	B	0.19331	0.035	B	0.14023	0.01	T	0.41233	-0.9520	9	0.13108	T	0.6	.	10.0185	0.42029	0.1043:0.0:0.8957:0.0	.	2201	Q9UM47	NOTC3_HUMAN	S	2201	ENSP00000263388:P2201S	ENSP00000263388:P2201S	P	-	1	0	NOTCH3	15132838	1.000000	0.71417	0.049000	0.19019	0.043000	0.13939	0.947000	0.29082	0.846000	0.35142	-0.218000	0.12543	CCC		0.741	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		7	6	0	0	0	1	0	7	6				
DPP4	1803	broad.mit.edu	37	2	162851494	162851494	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr2:162851494C>T	ENST00000360534.3	-	25	2736	c.2176G>A	c.(2176-2178)Gtt>Att	p.V726I	DPP4_ENST00000491591.1_5'UTR	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	726					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	TCCACTCCAACATCGACCAGG	0.453																																						ENST00000360534.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48						c.(2176-2178)Gtt>Att		dipeptidyl-peptidase 4	Sitagliptin(DB01261)						88.0	82.0	84.0					2																	162851494		2203	4300	6503	SO:0001583	missense	1803				cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity	g.chr2:162851494C>T	M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"""CD molecules"""	3009	protein-coding gene	gene with protein product		102720	"""dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)"", ""adenosine deaminase complexing protein 2"""	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.2176G>A	2.37:g.162851494C>T	ENSP00000353731:p.Val726Ile					DPP4_ENST00000491591.1_5'UTR	p.V726I	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN			25	2736	-			726					Q53TN1	Missense_Mutation	SNP	ENST00000360534.3	37	c.2176G>A	CCDS2216.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.214129	0.58452	.	.	ENSG00000197635	ENST00000360534	T	0.29655	1.56	5.66	5.66	0.87406	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.051466	0.85682	D	0.000000	T	0.22666	0.0547	N	0.11560	0.145	0.21445	N	0.999682	B	0.13594	0.008	B	0.17979	0.02	T	0.30060	-0.9991	10	0.87932	D	0	-10.7182	19.7417	0.96234	0.0:1.0:0.0:0.0	.	726	P27487	DPP4_HUMAN	I	726	ENSP00000353731:V726I	ENSP00000353731:V726I	V	-	1	0	DPP4	162559740	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.499000	0.66937	2.661000	0.90470	0.655000	0.94253	GTT		0.453	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255079.2			4	69	0	0	0	1	0	4	69				
LYPLA1	10434	broad.mit.edu	37	8	54963679	54963679	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr8:54963679G>A	ENST00000316963.3	-	8	725	c.532C>T	c.(532-534)Ccc>Tcc	p.P178S	LYPLA1_ENST00000519926.1_5'Flank|LYPLA1_ENST00000343231.6_Missense_Mutation_p.P162S|LYPLA1_ENST00000522007.1_Silent_p.F57F	NM_001279360.1|NM_006330.2	NP_001266289.1|NP_006321.1	O75608	LYPA1_HUMAN	lysophospholipase I	178					fatty acid metabolic process (GO:0006631)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|nitric oxide metabolic process (GO:0046209)|protein depalmitoylation (GO:0002084)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	lysophospholipase activity (GO:0004622)|palmitoyl-(protein) hydrolase activity (GO:0008474)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)	6		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;8.48e-07)|Epithelial(17;9.29e-05)|all cancers(17;0.000689)			AACATCAGGGGAACCAAAGGG	0.413																																						ENST00000316963.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)	6						c.(532-534)Ccc>Tcc		lysophospholipase I							88.0	83.0	85.0					8																	54963679		2203	4300	6503	SO:0001583	missense	10434				fatty acid metabolic process|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytosol	lysophospholipase activity|palmitoyl-(protein) hydrolase activity	g.chr8:54963679G>A	AF081281	CCDS6157.1, CCDS64899.1, CCDS75738.1, CCDS75739.1	8q11.23-q12.1	2008-05-15			ENSG00000120992	ENSG00000120992	3.1.1.5		6737	protein-coding gene	gene with protein product		605599				10064899	Standard	NM_006330		Approved	LPL1	uc003xry.3	O75608	OTTHUMG00000164313	ENST00000316963.3:c.532C>T	8.37:g.54963679G>A	ENSP00000320043:p.Pro178Ser					LYPLA1_ENST00000522007.1_Silent_p.F57F|LYPLA1_ENST00000343231.6_Missense_Mutation_p.P162S	p.P178S	NM_006330.2	NP_006321.1	O75608	LYPA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;8.48e-07)|Epithelial(17;9.29e-05)|all cancers(17;0.000689)		8	725	-		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	178					O43202|Q9UQF9	Missense_Mutation	SNP	ENST00000316963.3	37	c.532C>T	CCDS6157.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.226687	0.58668	.	.	ENSG00000120992	ENST00000316963;ENST00000523751;ENST00000343231;ENST00000521171;ENST00000518546	T;T;T	0.33865	1.39;1.39;1.39	4.88	4.88	0.63580	Phospholipase/carboxylesterase/thioesterase (1);	0.000000	0.85682	D	0.000000	T	0.52419	0.1733	M	0.73319	2.225	0.80722	D	1	B;B;B	0.34349	0.45;0.363;0.371	P;B;B	0.46452	0.517;0.305;0.359	T	0.54549	-0.8277	10	0.49607	T	0.09	-0.2061	18.01	0.89220	0.0:0.0:1.0:0.0	.	144;162;178	B4DP64;O75608-2;O75608	.;.;LYPA1_HUMAN	S	178;144;162;87;162	ENSP00000320043:P178S;ENSP00000344477:P162S;ENSP00000428729:P162S	ENSP00000320043:P178S	P	-	1	0	LYPLA1	55126232	1.000000	0.71417	1.000000	0.80357	0.521000	0.34408	9.717000	0.98755	2.419000	0.82065	0.650000	0.86243	CCC		0.413	LYPLA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378238.1			5	88	0	0	0	1	0	5	88				
ACPP	55	broad.mit.edu	37	3	132086622	132086622	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr3:132086622C>T	ENST00000351273.7	+	11	1263	c.1213C>T	c.(1213-1215)Cgc>Tgc	p.R405C		NM_001134194.1	NP_001127666.1	P15309	PPAP_HUMAN	acid phosphatase, prostate	0					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleotide metabolic process (GO:0009117)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|purine nucleobase metabolic process (GO:0006144)|regulation of sensory perception of pain (GO:0051930)|thiamine metabolic process (GO:0006772)	apical part of cell (GO:0045177)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi cisterna (GO:0031985)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|vesicle membrane (GO:0012506)	5'-nucleotidase activity (GO:0008253)|acid phosphatase activity (GO:0003993)|choline binding (GO:0033265)|identical protein binding (GO:0042802)|lysophosphatidic acid phosphatase activity (GO:0052642)|phosphatase activity (GO:0016791)|thiamine phosphate phosphatase activity (GO:0042131)			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						TATCCACATTCGCCGTGGACT	0.463																																						ENST00000351273.7																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						c.(1213-1215)Cgc>Tgc		acid phosphatase, prostate							399.0	339.0	357.0					3																	132086622		1568	3582	5150	SO:0001583	missense	55					extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity	g.chr3:132086622C>T		CCDS3073.1, CCDS46916.1	3q22.1	2012-05-16			ENSG00000014257	ENSG00000014257	3.1.3.2		125	protein-coding gene	gene with protein product		171790					Standard	NM_001099		Approved	ACP3, ACP-3	uc003eop.4	P15309	OTTHUMG00000159650	ENST00000351273.7:c.1213C>T	3.37:g.132086622C>T	ENSP00000323036:p.Arg405Cys						p.R405C	NM_001134194.1	NP_001127666.1	P15309	PPAP_HUMAN			11	1263	+			0					D3DNC6|Q5FBY0|Q96KY0|Q96QK9|Q96QM0	Missense_Mutation	SNP	ENST00000351273.7	37	c.1213C>T	CCDS46916.1	.	.	.	.	.	.	.	.	.	.	C	11.03	1.520350	0.27211	.	.	ENSG00000014257	ENST00000351273	T	0.07688	3.17	4.96	4.96	0.65561	.	0.424638	0.22602	N	0.057947	T	0.23492	0.0568	.	.	.	0.24888	N	0.992185	D	0.89917	1.0	D	0.63703	0.917	T	0.01520	-1.1334	9	0.49607	T	0.09	.	14.4466	0.67356	0.0:1.0:0.0:0.0	.	405	P15309-2	.	C	405	ENSP00000323036:R405C	ENSP00000323036:R405C	R	+	1	0	ACPP	133569312	0.859000	0.29813	0.504000	0.27639	0.176000	0.22953	1.943000	0.40253	2.699000	0.92147	0.655000	0.94253	CGC		0.463	ACPP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356701.1	NM_001099		84	209	0	0	0	1	0	84	209				
IDH2	3418	broad.mit.edu	37	15	90631839	90631839	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr15:90631839T>C	ENST00000330062.3	-	4	627	c.514A>G	c.(514-516)Agg>Ggg	p.R172G	IDH2_ENST00000539790.1_Missense_Mutation_p.R42G|IDH2_ENST00000540499.2_Missense_Mutation_p.R120G|IDH2_ENST00000559482.1_Intron	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.R172W(12)|p.R172G(2)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			TGGGCGTGCCTGCCAATGGTG	0.627			M		GBM																																	ENST00000330062.3				Dom	yes		15	15q26.1	3418	M	"""socitrate dehydrogenase 2 (NADP+), mitochondrial """			M			GBM		14	Substitution - Missense(14)	p.R172W(12)|p.R172G(2)	central_nervous_system(9)|biliary_tract(5)	biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109						c.(514-516)Agg>Ggg		isocitrate dehydrogenase 2 (NADP+), mitochondrial							86.0	81.0	83.0					15																	90631839		2200	4298	6498	SO:0001583	missense	3418				2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	g.chr15:90631839T>C		CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.514A>G	15.37:g.90631839T>C	ENSP00000331897:p.Arg172Gly					IDH2_ENST00000540499.2_Missense_Mutation_p.R120G|IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Missense_Mutation_p.R42G	p.R172G	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)		4	627	-	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		172					B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	ENST00000330062.3	37	c.514A>G	CCDS10359.1	.	.	.	.	.	.	.	.	.	.	T	13.35	2.210612	0.39102	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	D;D;D	0.86956	-2.19;-2.19;-2.19	5.93	0.717	0.18196	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.95655	0.8587	H	0.98487	4.245	0.51767	D	0.999936	D	0.89917	1.0	D	0.97110	1.0	D	0.95508	0.8583	10	0.87932	D	0	.	13.7144	0.62687	0.0:0.0:0.4915:0.5085	.	172	P48735	IDHP_HUMAN	G	172;42;120	ENSP00000331897:R172G;ENSP00000438457:R42G;ENSP00000446147:R120G	ENSP00000331897:R172G	R	-	1	2	IDH2	88432843	1.000000	0.71417	0.032000	0.17829	0.002000	0.02628	1.525000	0.35953	-0.113000	0.11958	-0.466000	0.05196	AGG		0.627	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1			37	56	0	0	0	1	0	37	56				
NLRP7	199713	broad.mit.edu	37	19	55451739	55451739	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr19:55451739C>T	ENST00000590030.1	-	3	488	c.448G>A	c.(448-450)Gtc>Atc	p.V150I	NLRP7_ENST00000588756.1_Missense_Mutation_p.V150I|NLRP7_ENST00000448121.2_Missense_Mutation_p.V150I|NLRP7_ENST00000446217.1_Missense_Mutation_p.V178I|NLRP7_ENST00000328092.5_Missense_Mutation_p.V150I|NLRP7_ENST00000340844.2_Missense_Mutation_p.V150I|NLRP7_ENST00000592784.1_Missense_Mutation_p.V150I			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	150							ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CTCAGAGTGACGTCGTCATGG	0.498																																						ENST00000446217.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73						c.(532-534)Gtc>Atc		NLR family, pyrin domain containing 7							243.0	259.0	253.0					19																	55451739		2203	4300	6503	SO:0001583	missense	199713						ATP binding	g.chr19:55451739C>T	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.448G>A	19.37:g.55451739C>T	ENSP00000465520:p.Val150Ile					NLRP7_ENST00000448121.2_Missense_Mutation_p.V150I|NLRP7_ENST00000592784.1_Missense_Mutation_p.V150I|NLRP7_ENST00000588756.1_Missense_Mutation_p.V150I|NLRP7_ENST00000340844.2_Missense_Mutation_p.V150I|NLRP7_ENST00000328092.5_Missense_Mutation_p.V150I|NLRP7_ENST00000590030.1_Missense_Mutation_p.V150I	p.V178I			Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	6	934	-			150			NACHT.		E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	c.532G>A	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.962287	0.00461	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217	T;T;T;T	0.73363	-0.67;-0.67;-0.74;-0.71	1.86	-0.351	0.12602	.	0.639881	0.11944	N	0.514369	T	0.43299	0.1241	N	0.08118	0	0.09310	N	1	B;B;B;B	0.26258	0.089;0.089;0.089;0.145	B;B;B;B	0.20384	0.013;0.013;0.013;0.029	T	0.28490	-1.0042	10	0.08381	T	0.77	.	2.8472	0.05547	0.0:0.4357:0.2467:0.3176	.	178;150;150;150	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	I	150;150;150;178	ENSP00000329568:V150I;ENSP00000409137:V150I;ENSP00000339491:V150I;ENSP00000414273:V178I	ENSP00000329568:V150I	V	-	1	0	NLRP7	60143551	0.000000	0.05858	0.004000	0.12327	0.003000	0.03518	-0.224000	0.09164	-0.024000	0.13941	0.557000	0.71058	GTC		0.498	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		144	70	0	0	0	1	0	144	70				
GZMB	3002	broad.mit.edu	37	14	25102230	25102230	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr14:25102230G>A	ENST00000216341.4	-	2	200	c.94C>T	c.(94-96)Cgc>Tgc	p.R32C	GZMB_ENST00000526004.1_Missense_Mutation_p.R32C|GZMB_ENST00000415355.3_Missense_Mutation_p.R20C|GZMB_ENST00000382540.1_Missense_Mutation_p.R32C|RP11-104E19.1_ENST00000555300.1_RNA|GZMB_ENST00000382542.1_Missense_Mutation_p.R66C|RP11-104E19.1_ENST00000557736.1_RNA			P10144	GRAB_HUMAN	granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)	32	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.			RP -> PR (in Ref. 12; AA sequence). {ECO:0000305}.	apoptotic process (GO:0006915)|cytolysis (GO:0019835)|intrinsic apoptotic signaling pathway (GO:0097193)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13				GBM - Glioblastoma multiforme(265;0.028)		ATGTAGGGGCGGGAGTGGGGC	0.562																																						ENST00000216341.4																			0				endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13						c.(94-96)Cgc>Tgc		granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)							113.0	114.0	114.0					14																	25102230		2203	4300	6503	SO:0001583	missense	3002				activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity	g.chr14:25102230G>A	BC030195	CCDS9633.1	14q11.2	2008-08-13			ENSG00000100453	ENSG00000100453			4709	protein-coding gene	gene with protein product	"""fragmentin 2"", ""cytotoxic serine protease B"", ""cathepsin G-like 1"", ""T-cell serine protease 1-3E"""	123910		CTLA1, CSPB		2323780	Standard	NM_004131		Approved	CCPI, CGL-1, CSP-B, CGL1, CTSGL1, HLP, SECT	uc001wps.2	P10144	OTTHUMG00000029369	ENST00000216341.4:c.94C>T	14.37:g.25102230G>A	ENSP00000216341:p.Arg32Cys					GZMB_ENST00000415355.3_Missense_Mutation_p.R20C|RP11-104E19.1_ENST00000555300.1_RNA|RP11-104E19.1_ENST00000557736.1_RNA|GZMB_ENST00000526004.1_Missense_Mutation_p.R32C|GZMB_ENST00000382542.1_Missense_Mutation_p.R66C|GZMB_ENST00000382540.1_Missense_Mutation_p.R32C	p.R32C			P10144	GRAB_HUMAN		GBM - Glioblastoma multiforme(265;0.028)	2	200	-			32	RP -> PR (in Ref. 12; AA sequence).		Peptidase S1.		Q8N1D2|Q9UCC1	Missense_Mutation	SNP	ENST00000216341.4	37	c.94C>T	CCDS9633.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.279768	0.59758	.	.	ENSG00000100453	ENST00000415355;ENST00000216341;ENST00000382542;ENST00000382540;ENST00000526004	T;D;D;T;D	0.92965	0.25;-3.14;-3.14;1.53;-1.52	5.04	5.04	0.67666	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.33290	N	0.005070	D	0.93226	0.7842	L	0.58583	1.82	0.42936	D	0.994331	D;D	0.56746	0.977;0.965	P;P	0.54889	0.763;0.632	D	0.93658	0.6979	10	0.87932	D	0	.	14.0772	0.64897	0.0:0.0:1.0:0.0	.	20;32	Q6XGZ4;P10144	.;GRAB_HUMAN	C	20;32;66;32;32	ENSP00000387385:R20C;ENSP00000216341:R32C;ENSP00000371982:R66C;ENSP00000371980:R32C;ENSP00000434213:R32C	ENSP00000216341:R32C	R	-	1	0	GZMB	24172070	0.871000	0.30034	0.660000	0.29694	0.980000	0.70556	1.696000	0.37773	2.785000	0.95823	0.655000	0.94253	CGC		0.562	GZMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276540.3	NM_004131		6	200	0	0	0	1	0	6	200				
NPY	4852	broad.mit.edu	37	7	24324984	24324984	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr7:24324984C>T	ENST00000407573.1	+	3	415	c.125C>T	c.(124-126)gCg>gTg	p.A42V	NPY_ENST00000405982.1_Missense_Mutation_p.A42V|NPY_ENST00000242152.2_Missense_Mutation_p.A42V			P01303	NPY_HUMAN	neuropeptide Y	42					adult feeding behavior (GO:0008343)|behavior (GO:0007610)|blood circulation (GO:0008015)|calcium ion transport (GO:0006816)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of appetite (GO:0032100)|regulation of blood pressure (GO:0008217)|synaptic transmission (GO:0007268)	cell (GO:0005623)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)	p.A42V(1)		breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						GACGCACCAGCGGAGGACATG	0.682																																						ENST00000407573.1																			1	Substitution - Missense(1)	p.A42V(1)	large_intestine(1)	breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						c.(124-126)gCg>gTg		neuropeptide Y							82.0	62.0	69.0					7																	24324984		2203	4300	6503	SO:0001583	missense	4852				adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity	g.chr7:24324984C>T	K01911	CCDS5387.1	7p15.3	2013-02-26			ENSG00000122585	ENSG00000122585		"""Endogenous ligands"""	7955	protein-coding gene	gene with protein product	"""prepro-neuropeptide Y"""	162640					Standard	NM_000905		Approved	PYY4	uc003sww.2	P01303	OTTHUMG00000022973	ENST00000407573.1:c.125C>T	7.37:g.24324984C>T	ENSP00000384364:p.Ala42Val					NPY_ENST00000242152.2_Missense_Mutation_p.A42V|NPY_ENST00000405982.1_Missense_Mutation_p.A42V	p.A42V			P01303	NPY_HUMAN			3	415	+			42						Missense_Mutation	SNP	ENST00000407573.1	37	c.125C>T	CCDS5387.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.480203	0.84747	.	.	ENSG00000122585	ENST00000242152;ENST00000407573;ENST00000405982	T;T;T	0.42131	0.98;0.98;0.98	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.39733	0.1089	.	.	.	0.80722	D	1	P	0.47841	0.901	B	0.37888	0.26	T	0.29549	-1.0008	9	0.45353	T	0.12	-11.1598	20.1986	0.98248	0.0:1.0:0.0:0.0	.	42	P01303	NPY_HUMAN	V	42	ENSP00000242152:A42V;ENSP00000384364:A42V;ENSP00000385282:A42V	ENSP00000242152:A42V	A	+	2	0	NPY	24291509	1.000000	0.71417	0.923000	0.36655	0.679000	0.39708	7.783000	0.85696	2.781000	0.95711	0.650000	0.86243	GCG		0.682	NPY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326748.1	NM_000905		7	93	0	0	0	1	0	7	93				
CTIF	9811	broad.mit.edu	37	18	46284511	46284511	+	Missense_Mutation	SNP	G	G	A	rs373686942		TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr18:46284511G>A	ENST00000256413.3	+	8	1101	c.806G>A	c.(805-807)cGc>cAc	p.R269H	CTIF_ENST00000382998.4_Missense_Mutation_p.R269H	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	269	Interaction with NCBP1/CBP80.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						GGCGCACACCGCAATGCCAAA	0.642																																						ENST00000256413.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						c.(805-807)cGc>cAc		CBP80/20-dependent translation initiation factor		G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	92.0	86.0	88.0		806,806	5.2	1.0	18		88	0,8600		0,0,4300	no	missense,missense	CTIF	NM_001142397.1,NM_014772.2	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	269/601,269/599	46284511	1,13005	2203	4300	6503	SO:0001583	missense	9811				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding	g.chr18:46284511G>A	AB007887	CCDS11935.1, CCDS45864.1	18q21.1	2011-01-20	2011-01-20	2011-01-20	ENSG00000134030	ENSG00000134030			23925	protein-coding gene	gene with protein product		613178	"""KIAA0427"""	KIAA0427		9455477, 19648179	Standard	NM_014772		Approved		uc002ldd.3	O43310	OTTHUMG00000132656	ENST00000256413.3:c.806G>A	18.37:g.46284511G>A	ENSP00000256413:p.Arg269His					CTIF_ENST00000382998.4_Missense_Mutation_p.R269H	p.R269H	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN			8	1101	+			269			Interaction with NCBP1/CBP80.		B3KTR8|Q8IVD5	Missense_Mutation	SNP	ENST00000256413.3	37	c.806G>A	CCDS11935.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.315040	0.81358	2.27E-4	0.0	ENSG00000134030	ENST00000256413;ENST00000382998;ENST00000420275	T;T	0.53423	0.62;0.62	5.19	5.19	0.71726	.	0.526840	0.20022	N	0.100884	T	0.47581	0.1453	L	0.40543	1.245	0.41689	D	0.989338	P;P	0.52170	0.951;0.832	P;B	0.46076	0.503;0.306	T	0.53892	-0.8374	10	0.87932	D	0	-14.0903	16.9045	0.86123	0.0:0.0:1.0:0.0	.	269;269	O43310-2;O43310	.;CTIF_HUMAN	H	269;269;221	ENSP00000256413:R269H;ENSP00000372459:R269H	ENSP00000256413:R269H	R	+	2	0	CTIF	44538509	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.058000	0.64300	2.416000	0.81992	0.561000	0.74099	CGC		0.642	CTIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255907.1	NM_014772		5	82	0	0	0	1	0	5	82				
NWD1	284434	broad.mit.edu	37	19	16860910	16860910	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr19:16860910C>T	ENST00000552788.1	+	4	1457	c.1457C>T	c.(1456-1458)cCg>cTg	p.P486L	NWD1_ENST00000339803.6_Missense_Mutation_p.P351L|NWD1_ENST00000379808.3_Missense_Mutation_p.P486L|NWD1_ENST00000524140.2_Missense_Mutation_p.P486L|NWD1_ENST00000549814.1_Missense_Mutation_p.P486L|NWD1_ENST00000523826.1_Missense_Mutation_p.P280L			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	486	NACHT.						ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTCCTGGACCCGGAGGCCTAC	0.647																																						ENST00000524140.2																			0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1456-1458)cCg>cTg		NACHT and WD repeat domain containing 1							56.0	59.0	58.0					19																	16860910		2203	4300	6503	SO:0001583	missense	284434						ATP binding	g.chr19:16860910C>T	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.1457C>T	19.37:g.16860910C>T	ENSP00000447224:p.Pro486Leu					NWD1_ENST00000523826.1_Missense_Mutation_p.P280L|NWD1_ENST00000339803.6_Missense_Mutation_p.P351L|NWD1_ENST00000379808.3_Missense_Mutation_p.P486L|NWD1_ENST00000549814.1_Missense_Mutation_p.P486L|NWD1_ENST00000552788.1_Missense_Mutation_p.P486L	p.P486L	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN			6	1875	+			486			NACHT.		C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37	c.1457C>T		.	.	.	.	.	.	.	.	.	.	c	5.657	0.305851	0.10733	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.80480	-1.38;-1.38;-1.38;-1.38;-1.38;-1.38	4.45	0.913	0.19354	.	0.582761	0.16378	N	0.217010	T	0.70448	0.3225	L	0.40543	1.245	0.09310	N	1	D;D;B	0.59767	0.958;0.986;0.233	P;B;B	0.47102	0.537;0.423;0.035	T	0.59910	-0.7365	10	0.27785	T	0.31	-9.903	3.9953	0.09556	0.1673:0.5762:0.1624:0.0941	.	486;486;351	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	L	351;486;486;486;280;486;351	ENSP00000428579:P486L;ENSP00000447548:P486L;ENSP00000369136:P486L;ENSP00000428955:P280L;ENSP00000447224:P486L;ENSP00000340159:P351L	ENSP00000340159:P351L	P	+	2	0	NWD1	16721910	0.000000	0.05858	0.177000	0.23020	0.110000	0.19582	0.195000	0.17155	0.379000	0.24794	0.643000	0.83706	CCG		0.647	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		7	125	0	0	0	1	0	7	125				
HDHD3	81932	broad.mit.edu	37	9	116136465	116136465	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr9:116136465C>T	ENST00000238379.5	-	2	1067	c.170G>A	c.(169-171)aGc>aAc	p.S57N	HDHD3_ENST00000485934.1_5'UTR|HDHD3_ENST00000374180.3_Missense_Mutation_p.S57N	NM_031219.2	NP_112496.1	Q9BSH5	HDHD3_HUMAN	haloacid dehalogenase-like hydrolase domain containing 3	57						mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			large_intestine(2)|liver(1)	3						GAAGCTGTGGCTCTGAGCCCT	0.657																																						ENST00000238379.5																			0				large_intestine(2)|liver(1)	3						c.(169-171)aGc>aAc		haloacid dehalogenase-like hydrolase domain containing 3							53.0	44.0	47.0					9																	116136465		2203	4300	6503	SO:0001583	missense	81932						phosphoglycolate phosphatase activity|protein binding	g.chr9:116136465C>T	AK097067	CCDS6793.1	9q33.1	2006-04-12	2004-08-09	2004-08-12	ENSG00000119431	ENSG00000119431			28171	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 158"""	C9orf158		12477932	Standard	NM_031219		Approved	MGC12904	uc004bhi.1	Q9BSH5	OTTHUMG00000020524	ENST00000238379.5:c.170G>A	9.37:g.116136465C>T	ENSP00000238379:p.Ser57Asn					HDHD3_ENST00000374180.3_Missense_Mutation_p.S57N|HDHD3_ENST00000485934.1_5'UTR	p.S57N	NM_031219.2	NP_112496.1	Q9BSH5	HDHD3_HUMAN			2	1067	-			57					B2RD47	Missense_Mutation	SNP	ENST00000238379.5	37	c.170G>A	CCDS6793.1	.	.	.	.	.	.	.	.	.	.	C	8.965	0.971415	0.18736	.	.	ENSG00000119431	ENST00000238379;ENST00000374180	T;T	0.42513	0.97;0.97	5.95	1.61	0.23674	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	0.184945	0.64402	N	0.000019	T	0.29423	0.0733	L	0.39566	1.225	0.58432	D	0.999999	B	0.17268	0.021	B	0.15870	0.014	T	0.08659	-1.0711	10	0.12430	T	0.62	-10.1386	11.3884	0.49800	0.0:0.7174:0.0:0.2826	.	57	Q9BSH5	HDHD3_HUMAN	N	57	ENSP00000238379:S57N;ENSP00000363295:S57N	ENSP00000238379:S57N	S	-	2	0	HDHD3	115176286	1.000000	0.71417	1.000000	0.80357	0.284000	0.27059	1.397000	0.34543	0.436000	0.26393	-0.136000	0.14681	AGC		0.657	HDHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053731.1	NM_031219		26	37	0	0	0	1	0	26	37				
PML	5371	broad.mit.edu	37	15	74290533	74290533	+	Silent	SNP	C	C	T			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr15:74290533C>T	ENST00000268058.3	+	2	414	c.318C>T	c.(316-318)aaC>aaT	p.N106N	PML_ENST00000565898.1_Silent_p.N106N|PML_ENST00000563500.1_Silent_p.N106N|PML_ENST00000268059.6_Silent_p.N106N|PML_ENST00000569965.1_Silent_p.N106N|PML_ENST00000564428.1_Silent_p.N106N|PML_ENST00000395135.3_Silent_p.N106N|PML_ENST00000395132.2_Silent_p.N106N|PML_ENST00000435786.2_Silent_p.N106N|PML_ENST00000567543.1_Silent_p.N106N|PML_ENST00000359928.4_Silent_p.N106N|PML_ENST00000569477.1_Silent_p.N106N|PML_ENST00000436891.3_Silent_p.N106N|PML_ENST00000354026.6_Silent_p.N106N	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	106					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						CCCTGGATAACGTCTTTTTCG	0.642			T	"""RARA, PAX5"""	"""APL, ALL"""																																	ENST00000565898.1				Dom	yes		15	15q22	5371	T	promyelocytic leukemia			L	"""RARA, PAX5"""		"""APL, ALL"""		0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						c.(316-318)aaC>aaT		promyelocytic leukemia							50.0	45.0	47.0					15																	74290533		2198	4297	6495	SO:0001819	synonymous_variant	5371				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr15:74290533C>T	AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.318C>T	15.37:g.74290533C>T						PML_ENST00000563500.1_Silent_p.N106N|PML_ENST00000354026.6_Silent_p.N106N|PML_ENST00000436891.3_Silent_p.N106N|PML_ENST00000435786.2_Silent_p.N106N|PML_ENST00000395132.2_Silent_p.N106N|PML_ENST00000395135.3_Silent_p.N106N|PML_ENST00000359928.4_Silent_p.N106N|PML_ENST00000268058.3_Silent_p.N106N|PML_ENST00000268059.6_Silent_p.N106N|PML_ENST00000569965.1_Silent_p.N106N|PML_ENST00000569477.1_Silent_p.N106N|PML_ENST00000567543.1_Silent_p.N106N|PML_ENST00000564428.1_Silent_p.N106N	p.N106N			P29590	PML_HUMAN			2	402	+			106					E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Silent	SNP	ENST00000268058.3	37	c.318C>T	CCDS10255.1																																																																																				0.642	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	NM_002675		5	77	0	0	0	1	0	5	77				
KCNN3	3782	broad.mit.edu	37	1	154842199	154842200	+	In_Frame_Ins	INS	-	-	GCTGCT	rs56352724|rs3831942|rs367921715|rs58327065		TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr1:154842199_154842200insGCTGCT	ENST00000271915.4	-	1	556_557	c.241_242insAGCAGC	c.(241-243)cca>cAGCAGCca	p.80_81insQQ	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	80	Gln-rich.		Missing.		potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)	p.Q80_P81insQQ(2)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	GGGATGCGGTGgctgctgctgc	0.698																																						ENST00000271915.3																			2	Insertion - In frame(2)	p.Q80_P81insQQ(2)	prostate(2)	cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28						c.(241-243)acc>AGCAGCacc		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3																																				SO:0001652	inframe_insertion	3782					integral to membrane	calmodulin binding	g.chr1:154842199_154842200insGCTGCT	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.236_241dupAGCAGC	1.37:g.154842200_154842205dupGCTGCT	ENSP00000271915:p.Gln79_Gln80dup						p.80_81insSS	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00819)		1	556_557	-	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		80			Poly-Gln.		B1ANX0|O43517|Q86VF9|Q8WXG7	In_Frame_Ins	INS	ENST00000271915.4	37	c.241_242insAGCAGC	CCDS30880.1																																																																																				0.698	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		9	12						9	12	---	---	---	---
HTRA2	27429	broad.mit.edu	37	2	74757185	74757186	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr2:74757185_74757186insG	ENST00000258080.3	+	1	682_683	c.52_53insG	c.(52-54)cggfs	p.R18fs	HTRA2_ENST00000352222.3_Frame_Shift_Ins_p.R18fs|HTRA2_ENST00000467961.1_Intron|AUP1_ENST00000377526.3_5'Flank	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	18					adult walking behavior (GO:0007628)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|ceramide metabolic process (GO:0006672)|execution phase of apoptosis (GO:0097194)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitochondrion organization (GO:0007005)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|neuron development (GO:0048666)|pentacyclic triterpenoid metabolic process (GO:0019742)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell death (GO:0010942)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of mitochondrion degradation (GO:1903146)|regulation of multicellular organism growth (GO:0040014)|response to herbicide (GO:0009635)	CD40 receptor complex (GO:0035631)|chromatin (GO:0000785)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)|unfolded protein binding (GO:0051082)			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						TCGGGCATGGCGGGCTTTGGGG	0.718																																						ENST00000258080.3																			0				endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(52-54)ggcfs		HtrA serine peptidase 2																																				SO:0001589	frameshift_variant	27429				apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding	g.chr2:74757185_74757186insG		CCDS1951.1, CCDS1952.1	2p13.1	2011-07-21	2005-08-19	2005-08-19	ENSG00000115317	ENSG00000115317		"""Serine peptidases / Serine peptidases"", ""Parkinson disease"""	14348	protein-coding gene	gene with protein product		606441	"""protease, serine, 25"""	PRSS25		10644717, 10971580	Standard	XM_005264266		Approved	OMI, PARK13	uc002smi.1	O43464	OTTHUMG00000129957	ENST00000258080.3:c.55dupG	2.37:g.74757188_74757188dupG	ENSP00000258080:p.Arg18fs					HTRA2_ENST00000352222.3_Frame_Shift_Ins_p.G18fs|HTRA2_ENST00000467961.1_Intron	p.G18fs	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN			1	682_683	+			18					Q9HBZ4|Q9P0Y3|Q9P0Y4	Frame_Shift_Ins	INS	ENST00000258080.3	37	c.52_53insG	CCDS1951.1																																																																																				0.718	HTRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252219.2	NM_013247		17	141						17	141	---	---	---	---
REV1	51455	broad.mit.edu	37	2	100055074	100055076	+	In_Frame_Del	DEL	ACA	ACA	-			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr2:100055074_100055076delACA	ENST00000258428.3	-	6	1428_1430	c.1200_1202delTGT	c.(1198-1203)gttgta>gta	p.400_401VV>V	REV1_ENST00000393445.3_In_Frame_Del_p.400_401VV>V|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	400					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGTGTCAGTTACAACAAGTGCAG	0.335								Direct reversal of damage																														ENST00000258428.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1198-1203)gta>gt	Direct reversal of damage	REV1, polymerase (DNA directed)			,	0,4264		0,0,2132					,	4.7	1.0			64	3,8251		1,1,4125	no	coding,coding	REV1	NM_016316.2,NM_001037872.1	,	1,1,6257	A1A1,A1R,RR		0.0363,0.0,0.024	,	,		3,12515				SO:0001651	inframe_deletion	51455				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	g.chr2:100055074_100055076delACA	AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"""DNA polymerases"""	14060	protein-coding gene	gene with protein product		606134	"""REV1 (yeast homolog)- like"", ""REV1-like (yeast)"", ""REV1 homolog (S. cerevisiae)"""	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.1200_1202delTGT	2.37:g.100055077_100055079delACA	ENSP00000258428:p.Val401del					REV1_ENST00000393445.3_In_Frame_Del_p.VV400del|REV1_ENST00000465835.1_5'UTR	p.VV400del	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN			6	1428_1430	-			400					O95941|Q53SI7|Q9C0J4|Q9NUP2	In_Frame_Del	DEL	ENST00000258428.3	37	c.1200_1202delTGT	CCDS2045.1																																																																																				0.335	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2	NM_016316		26	48						26	48	---	---	---	---
SMPD4	55627	broad.mit.edu	37	2	130930223	130930225	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr2:130930223_130930225delAAG	ENST00000409031.1	-	7	1745_1747	c.597_599delCTT	c.(595-600)ttcttt>ttt	p.199_200FF>F	SMPD4_ENST00000339679.7_In_Frame_Del_p.86_87FF>F|SMPD4_ENST00000351288.6_In_Frame_Del_p.199_200FF>F|SMPD4_ENST00000443958.2_Intron|SMPD4_ENST00000452225.2_Intron|SMPD4_ENST00000473720.1_Intron|SMPD4_ENST00000426662.2_Intron|SMPD4_ENST00000453750.1_Intron|SMPD4_ENST00000431183.2_In_Frame_Del_p.126_127FF>F	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	160					cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glycerophospholipid catabolic process (GO:0046475)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)|sphingomyelin phosphodiesterase D activity (GO:0050290)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	gctcaaggcaaagaagaatatgt	0.571																																						ENST00000409031.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(595-600)ttt>tt		sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	Phosphatidylserine(DB00144)																																			SO:0001651	inframe_deletion	55627				sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity	g.chr2:130930223_130930225delAAG	AF052134	CCDS2156.2, CCDS42751.1, CCDS54398.1	2q21.1	2009-11-06			ENSG00000136699	ENSG00000136699			32949	protein-coding gene	gene with protein product		610457				16517606	Standard	NM_001171083		Approved	FLJ20297, FLJ20756, nSMase-3, KIAA1418, NSMASE3, NET13	uc002tqr.2	Q9NXE4	OTTHUMG00000131624	ENST00000409031.1:c.597_599delCTT	2.37:g.130930226_130930228delAAG	ENSP00000386531:p.Phe200del					SMPD4_ENST00000473720.1_Intron|SMPD4_ENST00000453750.1_Intron|SMPD4_ENST00000426662.2_Intron|SMPD4_ENST00000339679.7_In_Frame_Del_p.FF86del|SMPD4_ENST00000443958.2_Intron|SMPD4_ENST00000431183.2_In_Frame_Del_p.FF126del|SMPD4_ENST00000351288.6_In_Frame_Del_p.FF199del|SMPD4_ENST00000452225.2_Intron	p.FF199del	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN			7	1745_1747	-	Colorectal(110;0.1)		160					B4DM23|B4DQ31|B4DRB8|B4DWK7|B4E0L6|E7ESA2|E9PCE6|Q6FI76|Q6P1P7|Q6ZT43|Q9H0M2|Q9NW20|Q9NWL2|Q9P2C9	In_Frame_Del	DEL	ENST00000409031.1	37	c.597_599delCTT	CCDS42751.1																																																																																				0.571	SMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254516.3	NM_017751		15	127						15	127	---	---	---	---
GPR156	165829	broad.mit.edu	37	3	119885960	119885960	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr3:119885960delC	ENST00000464295.1	-	10	2809	c.2364delG	c.(2362-2364)gggfs	p.G788fs	GPR156_ENST00000315843.3_Frame_Shift_Del_p.G788fs|GPR156_ENST00000461057.1_Frame_Shift_Del_p.G784fs			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	788						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		AGGAAGCCAGCCCCCCAGTAG	0.552																																						ENST00000464295.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32						c.(2362-2364)ggfs		G protein-coupled receptor 156							142.0	160.0	154.0					3																	119885960		2203	4300	6503	SO:0001589	frameshift_variant	165829					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr3:119885960delC	AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"""GPCR / Class C : Orphans"""	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.2364delG	3.37:g.119885960delC	ENSP00000417261:p.Gly788fs					GPR156_ENST00000315843.3_Frame_Shift_Del_p.G788fs|GPR156_ENST00000461057.1_Frame_Shift_Del_p.G784fs	p.G788fs			Q8NFN8	GP156_HUMAN		GBM - Glioblastoma multiforme(114;0.19)	10	2809	-			788					B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Frame_Shift_Del	DEL	ENST00000464295.1	37	c.2364delG	CCDS2997.1																																																																																				0.552	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355139.1	NM_153002		9	466						9	466	---	---	---	---
RBPJ	3516	broad.mit.edu	37	4	26426014	26426017	+	Frame_Shift_Del	DEL	CAGA	CAGA	-			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr4:26426014_26426017delCAGA	ENST00000361572.6	+	6	780_783	c.586_589delCAGA	c.(586-591)cagacafs	p.QT196fs	RBPJ_ENST00000504907.1_Frame_Shift_Del_p.QT182fs|RBPJ_ENST00000348160.4_Frame_Shift_Del_p.QT183fs|RBPJ_ENST00000507561.1_Frame_Shift_Del_p.QT161fs|RBPJ_ENST00000342320.4_Frame_Shift_Del_p.QT182fs|RBPJ_ENST00000355476.3_Frame_Shift_Del_p.QT182fs|RBPJ_ENST00000342295.1_Frame_Shift_Del_p.QT196fs|RBPJ_ENST00000345843.3_Frame_Shift_Del_p.QT181fs			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	196					angiogenesis (GO:0001525)|arterial endothelial cell fate commitment (GO:0060844)|atrioventricular canal development (GO:0036302)|auditory receptor cell fate commitment (GO:0009912)|B cell differentiation (GO:0030183)|blood vessel endothelial cell fate specification (GO:0097101)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac left ventricle morphogenesis (GO:0003214)|Clara cell differentiation (GO:0060486)|defense response to bacterium (GO:0042742)|DNA recombination (GO:0006310)|dorsal aorta morphogenesis (GO:0035912)|endocardium morphogenesis (GO:0003160)|epidermal cell fate specification (GO:0009957)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|gene expression (GO:0010467)|hair follicle maturation (GO:0048820)|humoral immune response (GO:0006959)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901297)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of ephrin receptor signaling pathway (GO:1901189)|positive regulation of ERBB signaling pathway (GO:1901186)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription of Notch receptor target (GO:0007221)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|sebaceous gland development (GO:0048733)|secondary heart field specification (GO:0003139)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|recombinase activity (GO:0000150)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				ACTACGATCCCAGACAGTTAGTAC	0.422																																						ENST00000342320.4																			0				central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15						c.(544-549)cafs		recombination signal binding protein for immunoglobulin kappa J region																																				SO:0001589	frameshift_variant	3516				DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity	g.chr4:26426014_26426017delCAGA	L07872	CCDS3436.1, CCDS3437.1, CCDS33969.1, CCDS43219.1	4p15.2	2013-10-18	2007-02-26	2007-02-26	ENSG00000168214	ENSG00000168214			5724	protein-coding gene	gene with protein product	"""suppressor of hairless homolog (Drosophila)"""	147183	"""recombining binding protein suppressor of hairless (Drosophila)"""	IGKJRB1, RBPSUH		8406481, 9290259	Standard	NM_005349		Approved	SUH, IGKJRB, RBPJK, KBF2, RBP-J, CBF1	uc003gsb.2	Q06330	OTTHUMG00000097793	ENST00000361572.6:c.586_589delCAGA	4.37:g.26426014_26426017delCAGA	ENSP00000354528:p.Gln196fs					RBPJ_ENST00000361572.6_Frame_Shift_Del_p.QT196fs|RBPJ_ENST00000507561.1_Frame_Shift_Del_p.QT161fs|RBPJ_ENST00000348160.4_Frame_Shift_Del_p.QT183fs|RBPJ_ENST00000355476.3_Frame_Shift_Del_p.QT182fs|RBPJ_ENST00000342295.1_Frame_Shift_Del_p.QT196fs|RBPJ_ENST00000345843.3_Frame_Shift_Del_p.QT181fs|RBPJ_ENST00000504907.1_Frame_Shift_Del_p.QT182fs	p.QT182fs			Q06330	SUH_HUMAN			6	720_723	+		Breast(46;0.0503)	196					B4DY22|Q5XKH9|Q6P1N3	Frame_Shift_Del	DEL	ENST00000361572.6	37	c.544_547delCAGA	CCDS3437.1																																																																																				0.422	RBPJ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215046.2	NM_015874		41	31						41	31	---	---	---	---
HBEGF	1839	broad.mit.edu	37	5	139715486	139715489	+	Frame_Shift_Del	DEL	CAGA	CAGA	-			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr5:139715486_139715489delCAGA	ENST00000230990.6	-	4	824_827	c.522_525delTCTG	c.(520-525)tgtctgfs	p.CL174fs	HBEGF_ENST00000507104.1_Frame_Shift_Del_p.CL174fs	NM_001945.2	NP_001936.1	Q99075	HBEGF_HUMAN	heparin-binding EGF-like growth factor	174					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|muscle organ development (GO:0007517)|negative regulation of elastin biosynthetic process (GO:0051545)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of wound healing (GO:0090303)|regulation of heart contraction (GO:0008016)|signal transduction (GO:0007165)|wound healing, spreading of epidermal cells (GO:0035313)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)	7			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGATGACCAGCAGACAGACAGATG	0.554																																						ENST00000230990.6																			0				breast(1)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)	7						c.(520-525)tgfs		heparin-binding EGF-like growth factor																																				SO:0001589	frameshift_variant	1839				epidermal growth factor receptor signaling pathway|muscle organ development|positive regulation of protein kinase B signaling cascade|positive regulation of wound healing	cell surface|extracellular space|integral to plasma membrane	epidermal growth factor receptor binding|eukaryotic cell surface binding|growth factor activity|heparin binding|receptor activity	g.chr5:139715486_139715489delCAGA		CCDS4223.1	5q23	2012-10-02	2005-01-14	2005-01-14	ENSG00000113070	ENSG00000113070			3059	protein-coding gene	gene with protein product	"""Diphtheria toxin receptor (heparin-binding EGF-like growth factor)"", ""heparin-binding epidermal growth factor"""	126150	"""diphtheria toxin receptor (heparin-binding epidermal growth factor-like growth factor)"""	HEGFL, DTS, DTR		7590736, 12163414	Standard	NM_001945		Approved		uc003lfi.3	Q99075	OTTHUMG00000129496	ENST00000230990.6:c.522_525delTCTG	5.37:g.139715494_139715497delCAGA	ENSP00000230990:p.Cys174fs					HBEGF_ENST00000507104.1_Frame_Shift_Del_p.CL174fs	p.CL174fs	NM_001945.2	NP_001936.1	Q99075	HBEGF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	824_827	-			174					B2R821	Frame_Shift_Del	DEL	ENST00000230990.6	37	c.522_525delTCTG	CCDS4223.1																																																																																				0.554	HBEGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251665.2	NM_001945		11	109						11	109	---	---	---	---
STK19	8859	broad.mit.edu	37	6	31939825	31939826	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr6:31939825_31939826insG	ENST00000375333.2	+	1	105_106	c.52_53insG	c.(52-54)cggfs	p.R18fs	DXO_ENST00000478221.1_5'UTR|DXO_ENST00000337523.5_5'UTR|STK19_ENST00000375331.2_Frame_Shift_Ins_p.R18fs|DXO_ENST00000375356.3_5'Flank|DXO_ENST00000375349.3_5'UTR	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	18					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			skin(5)|upper_aerodigestive_tract(2)	7						GCGACAGTGGCGGGCAAACCCC	0.634																																						ENST00000375331.2																			0				skin(5)|upper_aerodigestive_tract(2)	7						c.(52-54)ggcfs		serine/threonine kinase 19																																				SO:0001589	frameshift_variant	8859					nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:31939825_31939826insG	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.55dupG	6.37:g.31939828_31939828dupG	ENSP00000364482:p.Arg18fs					DOM3Z_ENST00000478221.1_5'UTR|DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000375349.3_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.G18fs	p.G18fs	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN			1	218_219	+			18					A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Frame_Shift_Ins	INS	ENST00000375333.2	37	c.52_53insG	CCDS4733.1																																																																																				0.634	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3			11	260						11	260	---	---	---	---
MARCKS	4082	broad.mit.edu	37	6	114181210	114181210	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr6:114181210delA	ENST00000368635.4	+	2	835	c.454delA	c.(454-456)aaafs	p.K156fs		NM_002356.5	NP_002347.5	P29966	MARCS_HUMAN	myristoylated alanine-rich protein kinase C substrate	156	Calmodulin-binding (PSD).				energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|germinal vesicle (GO:0042585)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|calmodulin binding (GO:0005516)	p.K155fs*12(1)		breast(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;7.65e-05)|all_epithelial(87;0.000296)|all_hematologic(75;0.0172)|Colorectal(196;0.0317)|all_lung(197;0.198)		Epithelial(106;1.59e-07)|all cancers(137;9.85e-07)|OV - Ovarian serous cystadenocarcinoma(136;0.000322)		CGAGACCCCGAAAAAAAAAAA	0.612																																						ENST00000368635.4																			1	Deletion - Frameshift(1)	p.K155fs*12(1)	large_intestine(1)	breast(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(454-456)aafs		myristoylated alanine-rich protein kinase C substrate							9.0	11.0	10.0					6																	114181210		1892	3986	5878	SO:0001589	frameshift_variant	4082				energy reserve metabolic process|regulation of insulin secretion	actin cytoskeleton|plasma membrane	actin filament binding|calmodulin binding	g.chr6:114181210delA	M68956	CCDS5101.1	6q21	2014-04-10	2001-12-17	2001-12-20	ENSG00000155130	ENSG00000277443			6759	protein-coding gene	gene with protein product		177061	"""myristoylated alanine-rich protein kinase C substrate (MARCKS, 80K-L)"""	MACS		1560845, 8420923	Standard	NM_002356		Approved	PKCSL, 80K-L	uc003pvy.4	P29966	OTTHUMG00000188327	ENST00000368635.4:c.454delA	6.37:g.114181210delA	ENSP00000357624:p.Lys156fs						p.K156fs	NM_002356.5	NP_002347.5	P29966	MARCS_HUMAN		Epithelial(106;1.59e-07)|all cancers(137;9.85e-07)|OV - Ovarian serous cystadenocarcinoma(136;0.000322)	2	835	+		all_cancers(87;7.65e-05)|all_epithelial(87;0.000296)|all_hematologic(75;0.0172)|Colorectal(196;0.0317)|all_lung(197;0.198)	156			Calmodulin-binding (PSD).		E1P560|Q2LA83|Q5TDB7	Frame_Shift_Del	DEL	ENST00000368635.4	37	c.454delA	CCDS5101.1																																																																																				0.612	MARCKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041903.1	NM_002356		7	28						7	28	---	---	---	---
TCF7L2	6934	broad.mit.edu	37	10	114911515	114911517	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr10:114911515_114911517delAAG	ENST00000355995.4	+	10	1540_1542	c.1033_1035delAAG	c.(1033-1035)aagdel	p.K347del	TCF7L2_ENST00000543371.1_In_Frame_Del_p.K347del|TCF7L2_ENST00000534894.1_In_Frame_Del_p.K347del|TCF7L2_ENST00000369397.4_In_Frame_Del_p.K324del|TCF7L2_ENST00000545257.1_In_Frame_Del_p.K347del|TCF7L2_ENST00000538897.1_In_Frame_Del_p.K347del|TCF7L2_ENST00000542695.1_In_Frame_Del_p.K63del|TCF7L2_ENST00000369389.1_In_Frame_Del_p.K58del|TCF7L2_ENST00000536810.1_In_Frame_Del_p.K347del|TCF7L2_ENST00000352065.5_In_Frame_Del_p.K324del|TCF7L2_ENST00000355717.4_In_Frame_Del_p.K371del|TCF7L2_ENST00000369386.1_5'UTR			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	347	Mediates interaction with MAD2L2.				blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		GGAAGAAGAAAAGAAGAAGCCCC	0.443			T	VTI1A	colorectal																																	ENST00000545257.1				Dom	yes		10	10q25.3	6934	T	transcription factor 7-like 2			E	VTI1A		colorectal	VTI1A/TCF7L2(8)	0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41						c.(1033-1035)del		transcription factor 7-like 2 (T-cell specific, HMG-box)																																				SO:0001651	inframe_deletion	6934				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr10:114911515_114911517delAAG	X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.1033_1035delAAG	10.37:g.114911521_114911523delAAG	ENSP00000348274:p.Lys347del					TCF7L2_ENST00000534894.1_In_Frame_Del_p.K347del|TCF7L2_ENST00000352065.5_In_Frame_Del_p.K324del|TCF7L2_ENST00000369389.1_In_Frame_Del_p.K58del|TCF7L2_ENST00000369397.4_In_Frame_Del_p.K324del|TCF7L2_ENST00000538897.1_In_Frame_Del_p.K347del|TCF7L2_ENST00000369386.1_5'UTR|TCF7L2_ENST00000355995.4_In_Frame_Del_p.K347del|TCF7L2_ENST00000543371.1_In_Frame_Del_p.K347del|TCF7L2_ENST00000542695.1_In_Frame_Del_p.K63del|TCF7L2_ENST00000355717.4_In_Frame_Del_p.K371del|TCF7L2_ENST00000536810.1_In_Frame_Del_p.K347del	p.K347del			Q9NQB0	TF7L2_HUMAN		Epithelial(162;0.00554)|all cancers(201;0.02)	10	1540_1542	+		Breast(234;0.058)|Colorectal(252;0.0615)	347			Mediates interaction with MAD2L2.		B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	In_Frame_Del	DEL	ENST00000355995.4	37	c.1033_1035delAAG																																																																																					0.443	TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		NM_030756		19	56						19	56	---	---	---	---
FKBP3	2287	broad.mit.edu	37	14	45590142	45590144	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr14:45590142_45590144delTTC	ENST00000216330.3	-	6	878_880	c.468_470delGAA	c.(466-471)aagaaa>aaa	p.156_157KK>K	FKBP3_ENST00000396062.3_In_Frame_Del_p.156_157KK>K			Q00688	FKBP3_HUMAN	FK506 binding protein 3, 25kDa	156	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			NS(1)|biliary_tract(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	12						CTTGGCATTTTTCTTCTTCTTTG	0.32																																						ENST00000216330.3																			0				NS(1)|biliary_tract(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	12						c.(466-471)aaa>aa		FK506 binding protein 3, 25kDa																																				SO:0001651	inframe_deletion	2287				protein folding	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor activity	g.chr14:45590142_45590144delTTC	M96256	CCDS9683.1	14q21.2	2008-08-11	2002-08-29		ENSG00000100442	ENSG00000100442			3719	protein-coding gene	gene with protein product		186947	"""FK506-binding protein 3 (25kD)"""			1374240, 1532945	Standard	NM_002013		Approved	FKBP-25, PPIase	uc010tqf.2	Q00688	OTTHUMG00000140267	ENST00000216330.3:c.468_470delGAA	14.37:g.45590148_45590150delTTC	ENSP00000216330:p.Lys157del					FKBP3_ENST00000396062.3_In_Frame_Del_p.KK156del	p.KK156del			Q00688	FKBP3_HUMAN			6	878_880	-			156			PPIase FKBP-type.		B2R4Q9|Q14317	In_Frame_Del	DEL	ENST00000216330.3	37	c.468_470delGAA	CCDS9683.1																																																																																				0.320	FKBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276796.1	NM_002013		23	57						23	57	---	---	---	---
NPIPA8	101059953	broad.mit.edu	37	16	18441114	18441116	+	Splice_Site	DEL	CAC	CAC	-			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr16:18441114_18441116delCAC	ENST00000339303.5	-	1	15		c.e1+1					P0DM63	NPIA8_HUMAN	nuclear pore complex interacting protein family, member A8																		CGGCCATACTCACCACTGGGACT	0.709																																						ENST00000339303.5																			0											c.e1+1		nuclear pore complex interacting protein family, member A8																																				SO:0001630	splice_region_variant	101059953							g.chr16:18441114_18441116delCAC		CCDS61865.1	16p12.3	2013-06-11			ENSG00000214940	ENSG00000214940			41983	protein-coding gene	gene with protein product	"""morpheus gene family member 9"""					11586358	Standard	NM_001282511		Approved	LCR16a9		P0DM63	OTTHUMG00000166284	ENST00000339303.5:c.4043+1GTG>-	16.37:g.18441117_18441119delCAC														1	15	-									Splice_Site	DEL	ENST00000339303.5	37																																																																																						0.709	NPIPA8-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			Intron	6	11						6	11	---	---	---	---
SPG7	6687	broad.mit.edu	37	16	89613072	89613073	+	Frame_Shift_Ins	INS	-	-	G	rs111475461	byFrequency	TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr16:89613072_89613073insG	ENST00000268704.2	+	11	1471_1472	c.1456_1457insG	c.(1456-1458)cggfs	p.R486fs		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	486			R -> Q (in dbSNP:rs111475461).		anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GCAGGAGAGGCGGGAGATTTTT	0.594																																						ENST00000268704.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20						c.(1456-1458)ggafs		spastic paraplegia 7 (pure and complicated autosomal recessive)																																				SO:0001589	frameshift_variant	6687				cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr16:89613072_89613073insG	Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"""ATPases / AAA-type"""	11237	protein-coding gene	gene with protein product	"""paraplegin"""	602783	"""cell matrix adhesion regulator"""	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.1459dupG	16.37:g.89613075_89613075dupG	ENSP00000268704:p.Arg486fs						p.G486fs	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)	11	1471_1472	+		all_hematologic(23;0.00824)|Colorectal(91;0.102)	486		R -> Q.			O75756|Q2TB70|Q58F00|Q96IB0	Frame_Shift_Ins	INS	ENST00000268704.2	37	c.1456_1457insG	CCDS10977.1																																																																																				0.594	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269921.2	NM_003119		9	268						9	268	---	---	---	---
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr17:45219612delA	ENST00000066544.3	-	11	1454	c.1361delT	c.(1360-1362)ctafs	p.L454fs	CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	454					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308																																						ENST00000066544.3																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(1360-1362)cafs		cell division cycle 27							30.0	30.0	30.0					17																	45219612		2201	4295	6496	SO:0001589	frameshift_variant	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45219612delA	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1361delT	17.37:g.45219612delA	ENSP00000066544:p.Leu454fs					CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs	p.L454fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			11	1454	-			454					G3V1C4|Q16349|Q96F35	Frame_Shift_Del	DEL	ENST00000066544.3	37	c.1361delT	CCDS11509.1																																																																																				0.308	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			7	31						7	31	---	---	---	---
PDE4C	5143	broad.mit.edu	37	19	18337211	18337211	+	Intron	DEL	G	G	-			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr19:18337211delG	ENST00000355502.3	-	6	1114				PDE4C_ENST00000594465.3_Intron|PDE4C_ENST00000447275.3_5'Flank|PDE4C_ENST00000594617.3_Intron|PDE4C_ENST00000262805.12_Frame_Shift_Del_p.P5fs			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific						cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	gggcgggcgcgggggggcccT	0.761																																						ENST00000262805.11																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(13-15)ccfs		phosphodiesterase 4C, cAMP-specific	Dyphylline(DB00651)						1.0	2.0	2.0					19																	18337211		899	2192	3091	SO:0001627	intron_variant	5143				signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr19:18337211delG		CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"""Phosphodiesterases"""	8782	protein-coding gene	gene with protein product	"""phosphodiesterase E1 dunce homolog (Drosophila)"""	600128	"""phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"""	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.243-4078C>-	19.37:g.18337211delG						PDE4C_ENST00000594465.2_Intron|PDE4C_ENST00000594617.2_Intron|PDE4C_ENST00000355502.3_Intron	p.P5fs	NM_001098818.2	NP_001092288.1	Q08493	PDE4C_HUMAN			1	74	-			0					B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Frame_Shift_Del	DEL	ENST00000355502.3	37	c.15delC	CCDS12373.1																																																																																				0.761	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466295.1			2	4						2	4	---	---	---	---
CIC	23152	broad.mit.edu	37	19	42799067	42799069	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr19:42799067_42799069delGAT	ENST00000575354.2	+	20	4591_4593	c.4551_4553delGAT	c.(4549-4554)aagatc>aac	p.1517_1518KI>N	CIC_ENST00000160740.3_In_Frame_Del_p.1515_1516KI>N|CIC_ENST00000572681.2_In_Frame_Del_p.2423_2424KI>N	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1517					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TGCGCCAGAAGATCATGCAGGCT	0.65			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(7267-7272)aac>aa		capicua transcriptional repressor																																				SO:0001651	inframe_deletion	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42799067_42799069delGAT	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.4551_4553delGAT	19.37:g.42799067_42799069delGAT	ENSP00000458663:p.Lys1517_Ile1518delinsAsn					CIC_ENST00000160740.3_In_Frame_Del_p.KI1515del|CIC_ENST00000575354.2_In_Frame_Del_p.KI1517del	p.KI2423del			Q96RK0	CIC_HUMAN			21	7337_7339	+		Prostate(69;0.00682)	1517					Q7LGI1|Q9UEG5|Q9Y6T1	In_Frame_Del	DEL	ENST00000575354.2	37	c.7269_7271delGAT	CCDS12601.1																																																																																				0.650	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			44	36						44	36	---	---	---	---
RBBP7	5931	broad.mit.edu	37	X	16887194	16887197	+	Splice_Site	DEL	CTTA	CTTA	-			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chrX:16887194_16887197delCTTA	ENST00000380087.2	-	2	522		c.e2+1		RBBP7_ENST00000404022.1_Splice_Site|RBBP7_ENST00000380084.4_Splice_Site			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7						cell proliferation (GO:0008283)|cellular heat acclimation (GO:0070370)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	RNA binding (GO:0003723)			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					GCCAGAAACCCTTACTTAGTCACT	0.392																																						ENST00000380087.2																			0				biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25						c.e2+1		retinoblastoma binding protein 7																																				SO:0001630	splice_region_variant	5931				cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding	g.chrX:16887194_16887197delCTTA	U35143	CCDS14179.1, CCDS56598.1	Xp22.22	2013-01-10	2001-11-28		ENSG00000102054	ENSG00000102054		"""WD repeat domain containing"""	9890	protein-coding gene	gene with protein product	"""G1/S transition control protein-binding protein RbAp46"", ""retinoblastoma-binding protein 7"", ""retinoblastoma-binding protein RbAp46"", ""histone acetyltransferase type B subunit 2"", ""retinoblastoma-binding protein p46"""	300825	"""retinoblastoma-binding protein 7"""			7503932	Standard	NM_002893		Approved	RbAp46	uc004cxs.2	Q16576	OTTHUMG00000021198	ENST00000380087.2:c.161+1TAAG>-	X.37:g.16887198_16887201delCTTA						RBBP7_ENST00000380084.4_Splice_Site|RBBP7_ENST00000404022.1_Splice_Site				Q16576	RBBP7_HUMAN			2	522	-	Hepatocellular(33;0.0997)							Q5JP00	Splice_Site	DEL	ENST00000380087.2	37		CCDS14179.1																																																																																				0.392	RBBP7-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055920.2	NM_002893	Intron	37	52						37	52	---	---	---	---
