#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
RNF213	57674	broad.mit.edu	37	17	78345780	78345780	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr17:78345780C>A	ENST00000582970.1	+	47	12675	c.12532C>A	c.(12532-12534)Ctg>Atg	p.L4178M	CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.L2251M|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.L4227M	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4178					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CATCAACTGCCTGGAGGTAAG	0.308																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(12532-12534)Ctg>Atg		ring finger protein 213							85.0	80.0	82.0					17																	78345780		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78345780C>A	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.12532C>A	17.37:g.78345780C>A	ENSP00000464087:p.Leu4178Met					RNF213_ENST00000336301.6_Missense_Mutation_p.L2251M|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.L4227M|CTD-2047H16.4_ENST00000575034.1_RNA	p.L4178M	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		47	12675	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.12532C>A	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.712914	0.48517	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.31247	1.5	5.28	5.28	0.74379	.	0.000000	0.64402	D	0.000002	T	0.50599	0.1625	M	0.70903	2.155	0.29699	N	0.84032	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.973	T	0.51172	-0.8739	10	0.37606	T	0.19	.	10.1407	0.42734	0.0:0.876:0.0:0.124	.	4227;2251	C9JCP4;Q63HN8	.;RN213_HUMAN	M	4178;4227;2251	ENSP00000338218:L2251M	ENSP00000338218:L2251M	L	+	1	2	RNF213	75960375	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	2.430000	0.44766	2.452000	0.82932	0.491000	0.48974	CTG		0.308	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		3	32	1	0	1	1	1	3	32				
FFAR3	2865	broad.mit.edu	37	19	35850577	35850577	+	Missense_Mutation	SNP	C	C	T	rs141433014		TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr19:35850577C>T	ENST00000327809.4	+	2	986	c.785C>T	c.(784-786)aCg>aTg	p.T262M	FFAR3_ENST00000594310.1_Missense_Mutation_p.T262M	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	262					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to fatty acid (GO:0071398)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|mucosal immune response (GO:0002385)|negative regulation of blood pressure (GO:0045776)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|regulation of hormone biosynthetic process (GO:0046885)|regulation of norepinephrine secretion (GO:0014061)|regulation of peptide hormone secretion (GO:0090276)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			ATCTACGTGACGCTTCTCAGC	0.567																																					Esophageal Squamous(185;1742 2042 21963 24215 27871)	ENST00000327809.4																			0				endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17						c.(784-786)aCg>aTg		free fatty acid receptor 3		C	MET/THR	1,4401	2.1+/-5.4	0,1,2200	287.0	207.0	234.0		785	4.1	0.4	19	dbSNP_134	234	0,8596		0,0,4298	no	missense	FFAR3	NM_005304.3	81	0,1,6498	TT,TC,CC		0.0,0.0227,0.0077	benign	262/347	35850577	1,12997	2201	4298	6499	SO:0001583	missense	2865					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35850577C>T	AF024688	CCDS12459.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000185897	ENSG00000185897		"""GPCR / Class A : Fatty acid receptors"""	4499	protein-coding gene	gene with protein product		603821	"""G protein-coupled receptor 41"""	GPR41		9344866, 22493486	Standard	NM_005304		Approved	FFA3R	uc002nzd.3	O14843	OTTHUMG00000172514	ENST00000327809.4:c.785C>T	19.37:g.35850577C>T	ENSP00000328230:p.Thr262Met					FFAR3_ENST00000594310.1_Missense_Mutation_p.T262M	p.T262M	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)		2	986	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		262					B2RWM8|Q14CM7	Missense_Mutation	SNP	ENST00000327809.4	37	c.785C>T	CCDS12459.1	.	.	.	.	.	.	.	.	.	.	C	4.681	0.126576	0.08931	2.27E-4	0.0	ENSG00000185897	ENST00000327809	T	0.37915	1.17	5.13	4.11	0.48088	GPCR, rhodopsin-like superfamily (1);	0.169214	0.39274	N	0.001410	T	0.17492	0.0420	N	0.04508	-0.205	0.09310	N	0.999997	B	0.10296	0.003	B	0.15484	0.013	T	0.15809	-1.0424	10	0.45353	T	0.12	-5.4233	8.9975	0.36061	0.0:0.0898:0.0:0.9102	.	262	O14843	FFAR3_HUMAN	M	262	ENSP00000328230:T262M	ENSP00000328230:T262M	T	+	2	0	FFAR3	40542417	0.857000	0.29778	0.376000	0.26042	0.111000	0.19643	3.452000	0.52971	0.801000	0.34066	-0.505000	0.04504	ACG		0.567	FFAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418873.2	NM_005304		6	232	0	0	0	1	0	6	232				
CDH23	64072	broad.mit.edu	37	10	73544798	73544798	+	Missense_Mutation	SNP	C	C	T	rs368848049		TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr10:73544798C>T	ENST00000224721.6	+	42	5673	c.5668C>T	c.(5668-5670)Cgc>Tgc	p.R1890C		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1885	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CTGCAATGCACGCCTCACCTT	0.602																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(5668-5670)Cgc>Tgc		cadherin-related 23							81.0	86.0	84.0					10																	73544798		2182	4276	6458	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73544798C>T	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.5668C>T	10.37:g.73544798C>T	ENSP00000224721:p.Arg1890Cys						p.R1890C	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			42	5673	+			1885			Cadherin 18.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.5668C>T		.	.	.	.	.	.	.	.	.	.	C	17.41	3.383220	0.61845	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721	.	.	.	4.41	3.5	0.40072	Cadherin (4);Cadherin-like (1);	0.166683	0.40728	N	0.001036	T	0.65281	0.2676	M	0.78637	2.42	0.80722	D	1	P	0.45531	0.86	P	0.49140	0.601	T	0.66582	-0.5887	9	0.40728	T	0.16	.	12.4755	0.55811	0.0:0.9173:0.0:0.0827	.	1885	Q9H251	CAD23_HUMAN	C	1890;1885;1888	.	ENSP00000224721:R1890C	R	+	1	0	CDH23	73214804	0.998000	0.40836	0.288000	0.24862	0.838000	0.47535	3.972000	0.56838	0.970000	0.38263	0.305000	0.20034	CGC		0.602	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		10	105	0	0	0	1	0	10	105				
PKN1	5585	broad.mit.edu	37	19	14574736	14574736	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr19:14574736C>T	ENST00000242783.6	+	11	1757	c.1592C>T	c.(1591-1593)aCc>aTc	p.T531I	PKN1_ENST00000342216.4_Missense_Mutation_p.T537I	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	531					activation of JUN kinase activity (GO:0007257)|epithelial cell migration (GO:0010631)|histone H3-T11 phosphorylation (GO:0035407)|hyperosmotic response (GO:0006972)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|GTP-Rho binding (GO:0017049)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|histone kinase activity (H3-T11 specific) (GO:0035402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						GGCACAGGCACCTTTAGCCCT	0.667																																					NSCLC(185;2539 2965 10733 52867)	ENST00000242783.6																			0				breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						c.(1591-1593)aCc>aTc		protein kinase N1							25.0	30.0	28.0					19																	14574736		2173	4276	6449	SO:0001583	missense	5585				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding	g.chr19:14574736C>T	S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143			9405	protein-coding gene	gene with protein product		601032	"""protein kinase C-like 1"""	PRKCL1		9570957	Standard	NM_002741		Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.1592C>T	19.37:g.14574736C>T	ENSP00000242783:p.Thr531Ile					PKN1_ENST00000342216.4_Missense_Mutation_p.T537I	p.T531I	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN			11	1757	+			531					A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Missense_Mutation	SNP	ENST00000242783.6	37	c.1592C>T	CCDS42513.1	.	.	.	.	.	.	.	.	.	.	C	9.995	1.231911	0.22626	.	.	ENSG00000123143	ENST00000242783;ENST00000342216	T;T	0.39229	1.09;1.09	3.9	2.84	0.33178	.	0.074317	0.52532	U	0.000067	T	0.36771	0.0979	M	0.75615	2.305	0.35284	D	0.781594	B;B	0.31859	0.343;0.041	B;B	0.28709	0.093;0.007	T	0.45542	-0.9254	10	0.48119	T	0.1	-12.0453	4.7674	0.13139	0.2152:0.673:0.0:0.1117	.	537;531	Q16512-2;Q16512	.;PKN1_HUMAN	I	531;537	ENSP00000242783:T531I;ENSP00000343325:T537I	ENSP00000242783:T531I	T	+	2	0	PKN1	14435736	0.998000	0.40836	0.783000	0.31826	0.122000	0.20287	3.437000	0.52863	0.843000	0.35070	0.484000	0.47621	ACC		0.667	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095510.1	NM_002741, NM_213560		3	25	0	0	0	1	0	3	25				
CCDC89	220388	broad.mit.edu	37	11	85397064	85397064	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr11:85397064G>A	ENST00000316398.3	-	1	256	c.110C>T	c.(109-111)aCg>aTg	p.T37M		NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	37						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CTTAAACTCCGTCTCCTCTTC	0.552																																						ENST00000316398.3																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15						c.(109-111)aCg>aTg		coiled-coil domain containing 89							84.0	77.0	79.0					11																	85397064		2203	4299	6502	SO:0001583	missense	220388					cytoplasm|nucleus		g.chr11:85397064G>A	AK095478	CCDS8270.1	11q14.1	2006-03-16			ENSG00000179071	ENSG00000179071			26762	protein-coding gene	gene with protein product						12477932	Standard	NM_152723		Approved	FLJ38159	uc001pau.1	Q8N998	OTTHUMG00000166976	ENST00000316398.3:c.110C>T	11.37:g.85397064G>A	ENSP00000320649:p.Thr37Met						p.T37M	NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN			1	256	-		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)	37						Missense_Mutation	SNP	ENST00000316398.3	37	c.110C>T	CCDS8270.1	.	.	.	.	.	.	.	.	.	.	G	2.744	-0.261538	0.05791	.	.	ENSG00000179071	ENST00000316398	.	.	.	5.72	-1.05	0.10036	.	1.520310	0.03825	N	0.268238	T	0.04861	0.0131	N	0.00210	-1.845	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.22347	-1.0219	8	.	.	.	0.1484	0.6172	0.00771	0.4378:0.123:0.2008:0.2383	.	37	Q8N998	CCD89_HUMAN	M	37	.	.	T	-	2	0	CCDC89	85074712	0.418000	0.25440	0.008000	0.14137	0.005000	0.04900	0.263000	0.18478	-0.176000	0.10707	-0.238000	0.12139	ACG		0.552	CCDC89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392182.1	NM_152723		5	57	0	0	0	1	0	5	57				
LOC653786	653786	broad.mit.edu	37	16	22587946	22587946	+	RNA	SNP	G	G	A	rs554950789	byFrequency	TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr16:22587946G>A	ENST00000550753.1	+	0	2421					NR_003676.2																						CTCTCCAGTCGTGGGGTCTTT	0.527													G|||	8	0.00159744	0.003	0.0	5008	,	,		26343	0.004		0.0	False		,,,				2504	0.0					ENST00000550753.1																			0																																																			0							g.chr16:22587946G>A																													16.37:g.22587946G>A								NR_003676.2						0	2421	+									RNA	SNP	ENST00000550753.1	37																																																																																						0.527	RP11-368J21.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409041.1			20	53	0	0	0	1	0	20	53				
APOB	338	broad.mit.edu	37	2	21227213	21227213	+	Silent	SNP	G	G	A			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr2:21227213G>A	ENST00000233242.1	-	28	12142	c.12015C>T	c.(12013-12015)gcC>gcT	p.A4005A		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4005					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGGTGCCTACGGCTGGGGAGG	0.507																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(12013-12015)gcC>gcT		apolipoprotein B	Atorvastatin(DB01076)						100.0	99.0	99.0					2																	21227213		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21227213G>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.12015C>T	2.37:g.21227213G>A							p.A4005A	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			28	12142	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		4005					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.12015C>T	CCDS1703.1																																																																																				0.507	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			37	38	0	0	0	1	0	37	38				
MUC4	4585	broad.mit.edu	37	3	195511870	195511870	+	Missense_Mutation	SNP	G	G	A	rs201707483	byFrequency	TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr3:195511870G>A	ENST00000463781.3	-	2	7040	c.6581C>T	c.(6580-6582)cCt>cTt	p.P2194L	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P2194L|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	983					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTCGGTGACAGGAAGAGGGGT	0.592													.|||	178	0.0355431	0.0189	0.0403	5008	,	,		15574	0.0		0.0905	False		,,,				2504	0.0348					ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(6580-6582)cCt>cTt		mucin 4, cell surface associated							12.0	16.0	15.0					3																	195511870		644	1553	2197	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195511870G>A	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.6581C>T	3.37:g.195511870G>A	ENSP00000417498:p.Pro2194Leu					MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P2194L|MUC4_ENST00000346145.4_Intron	p.P2194L	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	7040	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	983					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.6581C>T	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	G	3.854	-0.031304	0.07543	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.31510	1.5;1.49	.	.	.	.	.	.	.	.	T	0.29158	0.0725	N	0.19112	0.55	0.09310	N	1	D	0.57257	0.979	D	0.63488	0.915	T	0.17018	-1.0383	7	.	.	.	.	4.7077	0.12858	1.0E-4:0.0:0.6463:0.3536	.	2194	E7ESK3	.	L	2194	ENSP00000417498:P2194L;ENSP00000420243:P2194L	.	P	-	2	0	MUC4	196996265	0.001000	0.12720	0.002000	0.10522	0.155000	0.21991	0.174000	0.16743	-0.833000	0.04245	0.064000	0.15345	CCT		0.592	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		4	7	0	0	0	1	0	4	7				
CES3	23491	broad.mit.edu	37	16	66997813	66997813	+	Missense_Mutation	SNP	C	C	T	rs148620443		TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr16:66997813C>T	ENST00000303334.4	+	4	606	c.535C>T	c.(535-537)Cgc>Tgc	p.R179C	RP11-361L15.4_ENST00000566869.1_RNA|CES3_ENST00000394037.1_Missense_Mutation_p.R179C	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	179						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		AGTCCAGTACCGCCTTGGGGT	0.607													c|||	1	0.000199681	0.0	0.0	5008	,	,		19924	0.0		0.001	False		,,,				2504	0.0					ENST00000303334.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24						c.(535-537)Cgc>Tgc		carboxylesterase 3		C	CYS/ARG,CYS/ARG	2,4398	4.2+/-10.8	0,2,2198	138.0	122.0	127.0		535,535	2.0	0.8	16	dbSNP_134	127	7,8593	5.7+/-21.5	0,7,4293	yes	missense,missense	CES3	NM_001185177.1,NM_024922.5	180,180	0,9,6491	TT,TC,CC		0.0814,0.0455,0.0692	probably-damaging,probably-damaging	179/569,179/572	66997813	9,12991	2200	4300	6500	SO:0001583	missense	23491					endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:66997813C>T	AK025389	CCDS10826.1, CCDS54022.1, CCDS54023.1	16q22.1	2014-05-13	2008-07-25		ENSG00000172828	ENSG00000172828		"""Carboxylesterases"""	1865	protein-coding gene	gene with protein product	"""esterase 31"", ""brain carboxylesterase BR3"""	605279	"""carboxylesterase 3 (brain)"""			10518925, 14581373, 15100172, 20931200	Standard	NM_001185176		Approved	FLJ21736, ES31	uc002eqt.3	Q6UWW8	OTTHUMG00000137525	ENST00000303334.4:c.535C>T	16.37:g.66997813C>T	ENSP00000304782:p.Arg179Cys					CES3_ENST00000394037.1_Missense_Mutation_p.R179C	p.R179C	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)	4	606	+		Ovarian(137;0.0563)	179					B2Z3W9|F5H242|Q7Z6J1|Q9H6X7	Missense_Mutation	SNP	ENST00000303334.4	37	c.535C>T	CCDS10826.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.10	3.547802	0.65311	4.55E-4	8.14E-4	ENSG00000172828	ENST00000303334;ENST00000394037	D;D	0.90788	-2.73;-2.73	4.15	2.02	0.26589	Carboxylesterase, type B (1);	0.198539	0.25319	N	0.031529	D	0.96294	0.8791	H	0.98664	4.295	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94029	0.7299	10	0.87932	D	0	.	5.0707	0.14606	0.345:0.5464:0.0:0.1086	.	179	Q6UWW8	EST3_HUMAN	C	179	ENSP00000304782:R179C;ENSP00000377602:R179C	ENSP00000304782:R179C	R	+	1	0	CES3	65555314	0.998000	0.40836	0.784000	0.31847	0.026000	0.11368	1.740000	0.38228	1.086000	0.41228	0.609000	0.83330	CGC		0.607	CES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268848.1	NM_024922		57	59	0	0	0	1	0	57	59				
TIMD4	91937	broad.mit.edu	37	5	156378778	156378778	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr5:156378778C>T	ENST00000274532.2	-	3	480	c.424G>A	c.(424-426)Gca>Aca	p.A142T	TIMD4_ENST00000407087.3_Missense_Mutation_p.A142T	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	142	Thr-rich.					integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGGTGGTTGCTGTTCTGTGC	0.502																																						ENST00000274532.2																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37						c.(424-426)Gca>Aca		T-cell immunoglobulin and mucin domain containing 4							700.0	603.0	636.0					5																	156378778		2203	4300	6503	SO:0001583	missense	91937					integral to membrane		g.chr5:156378778C>T	BC008988	CCDS4332.1, CCDS54943.1	5q33.3	2013-01-11			ENSG00000145850	ENSG00000145850		"""Immunoglobulin superfamily / V-set domain containing"""	25132	protein-coding gene	gene with protein product		610096				12477932	Standard	NM_001146726		Approved		uc003lwh.2	Q96H15	OTTHUMG00000130244	ENST00000274532.2:c.424G>A	5.37:g.156378778C>T	ENSP00000274532:p.Ala142Thr					TIMD4_ENST00000407087.3_Missense_Mutation_p.A142T	p.A142T	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	480	-	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	142			Thr-rich.		B5MCL9	Missense_Mutation	SNP	ENST00000274532.2	37	c.424G>A	CCDS4332.1	.	.	.	.	.	.	.	.	.	.	C	4.725	0.134726	0.09032	.	.	ENSG00000145850	ENST00000274532;ENST00000407087	T;T	0.16743	2.32;2.33	4.19	1.6	0.23607	.	1.050750	0.07507	N	0.908236	T	0.08044	0.0201	N	0.14661	0.345	0.19575	N	0.999967	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.38394	-0.9663	10	0.05959	T	0.93	.	4.9016	0.13777	0.1617:0.0944:0.0:0.744	.	142;142	B5MCL9;Q96H15	.;TIMD4_HUMAN	T	142	ENSP00000274532:A142T;ENSP00000385973:A142T	ENSP00000274532:A142T	A	-	1	0	TIMD4	156311356	0.000000	0.05858	0.101000	0.21167	0.067000	0.16453	-0.689000	0.05144	0.205000	0.20568	-0.561000	0.04177	GCA		0.502	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252568.1	NM_138379		15	401	0	0	0	1	0	15	401				
KCNJ1	3758	broad.mit.edu	37	11	128710111	128710111	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr11:128710111C>T	ENST00000392664.2	-	2	201	c.85G>A	c.(85-87)Gtc>Atc	p.V29I	KCNJ1_ENST00000392666.1_Missense_Mutation_p.V10I|KCNJ1_ENST00000324036.3_Missense_Mutation_p.V10I|KCNJ1_ENST00000440599.2_Missense_Mutation_p.V10I|KCNJ1_ENST00000392665.2_Missense_Mutation_p.V10I	NM_000220.4	NP_000211.1	P48048	KCNJ1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	29					cardiovascular system development (GO:0072358)|excretion (GO:0007588)|kidney development (GO:0001822)|post-embryonic development (GO:0009791)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of G-protein activated inward rectifier potassium channel activity (GO:1900128)|renal sodium ion absorption (GO:0070294)|synaptic transmission (GO:0007268)|tissue homeostasis (GO:0001894)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Bethanidine(DB00217)|Glimepiride(DB00222)|Glyburide(DB01016)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Tolazamide(DB00839)|Tolbutamide(DB01124)|Yohimbine(DB01392)	AAGCGAGTGACGACCCATTTC	0.408																																						ENST00000392665.2																			0				breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23						c.(28-30)Gtc>Atc		potassium inwardly-rectifying channel, subfamily J, member 1	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)						115.0	110.0	111.0					11																	128710111		2201	4297	6498	SO:0001583	missense	3758				excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity	g.chr11:128710111C>T	BC063109	CCDS8476.1, CCDS8477.1	11q24	2011-07-05			ENSG00000151704	ENSG00000151704		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6255	protein-coding gene	gene with protein product		600359				7680431, 8190102, 16382105	Standard	NM_153765		Approved	Kir1.1, ROMK1	uc001qeo.2	P48048	OTTHUMG00000048247	ENST00000392664.2:c.85G>A	11.37:g.128710111C>T	ENSP00000376432:p.Val29Ile					KCNJ1_ENST00000392664.2_Missense_Mutation_p.V29I|KCNJ1_ENST00000392666.1_Missense_Mutation_p.V10I|KCNJ1_ENST00000440599.2_Missense_Mutation_p.V10I|KCNJ1_ENST00000324036.3_Missense_Mutation_p.V10I	p.V10I	NM_153764.2	NP_722448.1	P48048	IRK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	2	172	-	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)	29					B2RMR4|Q6LD67	Missense_Mutation	SNP	ENST00000392664.2	37	c.28G>A	CCDS8476.1	.	.	.	.	.	.	.	.	.	.	C	0.142	-1.101265	0.01843	.	.	ENSG00000151704	ENST00000392665;ENST00000392666;ENST00000440599;ENST00000324036;ENST00000392664;ENST00000324003	D;D;D;D;D;D	0.94280	-2.5;-2.5;-2.5;-2.5;-2.44;-3.39	5.52	1.6	0.23607	.	1.717070	0.03739	N	0.254671	D	0.86075	0.5846	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.74160	-0.3755	10	0.35671	T	0.21	.	9.4362	0.38639	0.0:0.5827:0.0:0.4173	.	29	P48048	IRK1_HUMAN	I	10;10;10;10;29;10	ENSP00000376433:V10I;ENSP00000376434:V10I;ENSP00000406320:V10I;ENSP00000316233:V10I;ENSP00000376432:V29I;ENSP00000316136:V10I	ENSP00000316136:V10I	V	-	1	0	KCNJ1	128215321	0.029000	0.19370	0.188000	0.23233	0.048000	0.14542	-0.312000	0.08113	0.301000	0.22738	-0.463000	0.05309	GTC		0.408	KCNJ1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386233.1	NM_000220		9	92	0	0	0	1	0	9	92				
LRRC18	474354	broad.mit.edu	37	10	50122058	50122058	+	Missense_Mutation	SNP	C	C	T	rs375635260	byFrequency	TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr10:50122058C>T	ENST00000374160.3	-	1	219	c.143G>A	c.(142-144)cGc>cAc	p.R48H	WDFY4_ENST00000325239.5_Intron|LRRC18_ENST00000298124.3_Missense_Mutation_p.R48H|RP11-523O18.7_ENST00000430438.1_RNA|WDFY4_ENST00000413659.2_Intron	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	48						cytoplasm (GO:0005737)				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						GTCACTAAGGCGCAGAATACA	0.507													C|||	2	0.000399361	0.0	0.0	5008	,	,		21442	0.0		0.0	False		,,,				2504	0.002					ENST00000374160.3																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						c.(142-144)cGc>cAc		leucine rich repeat containing 18		C	HIS/ARG,	0,4406		0,0,2203	97.0	85.0	89.0		143,	3.9	0.0	10		89	2,8598	2.2+/-6.3	0,2,4298	no	missense,intron	WDFY4,LRRC18	NM_001006939.3,NM_020945.1	29,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging,	48/262,	50122058	2,13004	2203	4300	6503	SO:0001583	missense	474354					cytoplasm		g.chr10:50122058C>T	AY358137	CCDS31197.1	10q11.23	2011-02-10			ENSG00000165383	ENSG00000165383			23199	protein-coding gene	gene with protein product							Standard	NM_001006939		Approved	UNQ933, MGC34773, UNQ9338, VKGE9338	uc001jhd.3	Q8N456	OTTHUMG00000018182	ENST00000374160.3:c.143G>A	10.37:g.50122058C>T	ENSP00000363275:p.Arg48His					WDFY4_ENST00000325239.5_Intron|RP11-523O18.7_ENST00000430438.1_RNA|WDFY4_ENST00000413659.2_Intron|LRRC18_ENST00000298124.3_Missense_Mutation_p.R48H	p.R48H	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN			1	219	-			48					Q6UY02	Missense_Mutation	SNP	ENST00000374160.3	37	c.143G>A	CCDS31197.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.946225	0.53079	0.0	2.33E-4	ENSG00000165383	ENST00000374160;ENST00000298124	T;T	0.52526	0.66;0.66	5.91	3.86	0.44501	.	0.278041	0.34853	N	0.003623	T	0.43344	0.1243	L	0.27053	0.805	0.23150	N	0.998213	D	0.65815	0.995	P	0.58577	0.841	T	0.19976	-1.0289	9	.	.	.	.	4.3224	0.11023	0.0:0.5637:0.0:0.4363	.	48	Q8N456	LRC18_HUMAN	H	48	ENSP00000363275:R48H;ENSP00000298124:R48H	.	R	-	2	0	LRRC18	49792064	0.983000	0.35010	0.021000	0.16686	0.342000	0.28953	4.092000	0.57707	1.509000	0.48786	0.650000	0.86243	CGC		0.507	LRRC18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047964.1	NM_001006939		23	42	0	0	0	1	0	23	42				
KRT16P2	400578	broad.mit.edu	37	17	16734855	16734855	+	RNA	SNP	C	C	T	rs688852	byFrequency	TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr17:16734855C>T	ENST00000579062.1	-	0	460									keratin 16 pseudogene 2									p.R183Q(1)									CACAGTCTGCCGCAGGGCCAG	0.632																																						ENST00000579062.1																			1	Substitution - Missense(1)	p.R183Q(1)	endometrium(1)																																																0							g.chr17:16734855C>T			17p11.2	2010-02-25			ENSG00000227300	ENSG00000227300			37807	pseudogene	pseudogene							Standard	NR_029392		Approved		uc010vwr.1		OTTHUMG00000059177		17.37:g.16734855C>T														0	460	-									RNA	SNP	ENST00000579062.1	37																																																																																						0.632	KRT16P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444288.2	NR_029392		6	48	0	0	0	1	0	6	48				
ADCY3	109	broad.mit.edu	37	2	25062839	25062839	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr2:25062839C>T	ENST00000260600.5	-	6	2109	c.1258G>A	c.(1258-1260)Gtg>Atg	p.V420M	ADCY3_ENST00000405392.1_Missense_Mutation_p.V31M	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	420					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.V420M(1)		NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CCCCCCAGCACGGTGCCCGTG	0.642																																						ENST00000260600.5																			1	Substitution - Missense(1)	p.V420M(1)	lung(1)	NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44						c.(1258-1260)Gtg>Atg		adenylate cyclase 3							104.0	101.0	102.0					2																	25062839		2203	4300	6503	SO:0001583	missense	109				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	g.chr2:25062839C>T	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.1258G>A	2.37:g.25062839C>T	ENSP00000260600:p.Val420Met					ADCY3_ENST00000405392.1_Missense_Mutation_p.V31M	p.V420M	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN			6	2109	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		420					B3KT86|Q53T54|Q9UDB1	Missense_Mutation	SNP	ENST00000260600.5	37	c.1258G>A	CCDS1715.1	.	.	.	.	.	.	.	.	.	.	C	32	5.169446	0.94768	.	.	ENSG00000138031	ENST00000260600;ENST00000405392;ENST00000415879;ENST00000454027;ENST00000427849;ENST00000435135	D;D;D;D;D	0.89939	-2.59;-2.59;-2.59;-2.59;-2.59	5.05	5.05	0.67936	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.96470	0.8848	H	0.96518	3.835	0.54753	D	0.999983	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97905	1.0305	10	0.87932	D	0	.	17.9882	0.89161	0.0:1.0:0.0:0.0	.	420;420;31	B7ZLX9;O60266;B3KT86	.;ADCY3_HUMAN;.	M	420;31;395;46;176;370	ENSP00000260600:V420M;ENSP00000384484:V31M;ENSP00000410120:V46M;ENSP00000399275:V176M;ENSP00000389799:V370M	ENSP00000260600:V420M	V	-	1	0	ADCY3	24916343	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	7.811000	0.86092	2.325000	0.78763	0.549000	0.68633	GTG		0.642	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			16	106	0	0	0	1	0	16	106				
ZNF878	729747	broad.mit.edu	37	19	12155757	12155757	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr19:12155757C>A	ENST00000547628.1	-	4	596	c.459G>T	c.(457-459)agG>agT	p.R153S	CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|ZNF878_ENST00000602107.1_Missense_Mutation_p.R200S|CTD-2006C1.2_ENST00000591898.1_RNA	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	153					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AACTGGGAAACCTGAATGCTT	0.423																																						ENST00000602107.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(598-600)agG>agT		zinc finger protein 878							139.0	150.0	146.0					19																	12155757		2165	4283	6448	SO:0001583	missense	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12155757C>A		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"""Zinc fingers, C2H2-type"", ""-"""	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.459G>T	19.37:g.12155757C>A	ENSP00000447931:p.Arg153Ser					CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.R153S|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron	p.R200S			C9JN71	ZN878_HUMAN			5	599	-			153						Missense_Mutation	SNP	ENST00000547628.1	37	c.600G>T	CCDS45984.2	.	.	.	.	.	.	.	.	.	.	c	0.119	-1.128634	0.01756	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.13901	2.55	1.25	-2.51	0.06365	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04588	0.0125	N	0.11427	0.14	0.09310	N	1	B	0.15141	0.012	B	0.18871	0.023	T	0.39840	-0.9594	9	0.02654	T	1	.	3.7988	0.08750	0.3827:0.4258:0.0:0.1915	.	153	C9JN71	ZN878_HUMAN	S	153;200	ENSP00000447931:R153S	ENSP00000447931:R153S	R	-	3	2	AC022415.4;ZNF878	12016757	0.000000	0.05858	0.001000	0.08648	0.669000	0.39330	-2.636000	0.00867	-1.408000	0.02040	0.299000	0.19835	AGG		0.423	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		4	138	1	0	0.000602214	1	0.000679421	4	138				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			33	56	0	0	0	1	0	33	56				
TMEM8A	58986	broad.mit.edu	37	16	427459	427459	+	Silent	SNP	G	G	A			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr16:427459G>A	ENST00000431232.2	-	3	586	c.426C>T	c.(424-426)tcC>tcT	p.S142S	TMEM8A_ENST00000250930.3_5'UTR|TMEM8A_ENST00000476735.1_5'UTR	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	142					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						AAACGTTGACGGAGGCATTGC	0.677											OREG0003703	type=REGULATORY REGION|Gene=TMEM8|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000431232.2																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						c.(424-426)tcC>tcT		transmembrane protein 8A																																				SO:0001819	synonymous_variant	58986				cell adhesion	integral to plasma membrane		g.chr16:427459G>A	AB045292	CCDS10407.1	16p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000129925	ENSG00000129925			17205	protein-coding gene	gene with protein product			"""transmembrane protein 6"", ""transmembrane protein 8 (five membrane-spanning domains)"""	TMEM6, TMEM8		11006113	Standard	NM_021259		Approved	M83	uc002cgu.4	Q9HCN3	OTTHUMG00000047996	ENST00000431232.2:c.426C>T	16.37:g.427459G>A			OREG0003703	type=REGULATORY REGION|Gene=TMEM8|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	588	TMEM8A_ENST00000250930.3_5'UTR|TMEM8A_ENST00000476735.1_5'UTR	p.S142S	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN			3	586	-			142					D3DU49|Q4TT35|Q8WU24|Q96S25|Q9BR03|Q9BT97|Q9H7B9	Silent	SNP	ENST00000431232.2	37	c.426C>T	CCDS10407.1																																																																																				0.677	TMEM8A-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000109257.2	NM_021259		10	21	0	0	0	1	0	10	21				
FAM50A	9130	broad.mit.edu	37	X	153678570	153678570	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chrX:153678570A>C	ENST00000393600.3	+	12	1024	c.914A>C	c.(913-915)aAg>aCg	p.K305T		NM_004699.3	NP_004690.1	Q14320	FA50A_HUMAN	family with sequence similarity 50, member A	305					spermatogenesis (GO:0007283)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|lung(9)|ovary(2)|skin(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CATGCAGGCAAGGTGGTGCTG	0.607																																						ENST00000393600.3																			0				breast(2)|central_nervous_system(1)|lung(9)|ovary(2)|skin(1)	15						c.(913-915)aAg>aCg		family with sequence similarity 50, member A							94.0	76.0	82.0					X																	153678570		2203	4300	6503	SO:0001583	missense	9130				spermatogenesis	nucleus		g.chrX:153678570A>C	BC000028	CCDS14751.1	Xq28	2008-02-05			ENSG00000071859	ENSG00000071859			18786	protein-coding gene	gene with protein product	"""DNA segment on chromosome X (unique) 9928 expressed sequence"""	300453				9339379, 9039504	Standard	NM_004699		Approved	DXS9928E, XAP5, HXC-26, 9F	uc004fll.4	Q14320	OTTHUMG00000033292	ENST00000393600.3:c.914A>C	X.37:g.153678570A>C	ENSP00000377225:p.Lys305Thr						p.K305T	NM_004699.3	NP_004690.1	Q14320	FA50A_HUMAN			12	1024	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		305					A8KAQ4|B2R997|Q5HY37|Q6PJH5	Missense_Mutation	SNP	ENST00000393600.3	37	c.914A>C	CCDS14751.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.020501	0.75275	.	.	ENSG00000071859	ENST00000393600	.	.	.	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	D	0.86062	0.5843	H	0.95917	3.74	0.58432	D	0.999999	D	0.76494	0.999	D	0.69142	0.962	D	0.89916	0.4055	9	0.87932	D	0	-39.6566	12.5409	0.56169	1.0:0.0:0.0:0.0	.	305	Q14320	FA50A_HUMAN	T	305	.	ENSP00000377225:K305T	K	+	2	0	FAM50A	153331764	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	6.967000	0.76079	1.667000	0.50832	0.441000	0.28932	AAG		0.607	FAM50A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081643.2	NM_004699		6	129	0	0	0	1	0	6	129				
ACSBG1	23205	broad.mit.edu	37	15	78475123	78475123	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr15:78475123C>T	ENST00000258873.4	-	6	873	c.668G>A	c.(667-669)tGg>tAg	p.W223*	ACSBG1_ENST00000541759.1_5'UTR|ACSBG1_ENST00000560817.1_5'UTR	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	223					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.W223S(1)|p.W223*(1)		endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CAACTGTTTCCAGATCTGCAT	0.463																																						ENST00000258873.4																			2	Substitution - Nonsense(1)|Substitution - Missense(1)	p.W223S(1)|p.W223*(1)	large_intestine(1)|liver(1)	endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						c.(667-669)tGg>tAg		acyl-CoA synthetase bubblegum family member 1							101.0	93.0	96.0					15																	78475123		2196	4293	6489	SO:0001587	stop_gained	23205				long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity	g.chr15:78475123C>T	AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"""Acyl-CoA synthetase family"""	29567	protein-coding gene	gene with protein product	"""bubblegum"", ""very long-chain acyl-CoA synthetase"", ""lipidosin"""	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.668G>A	15.37:g.78475123C>T	ENSP00000258873:p.Trp223*					ACSBG1_ENST00000541759.1_5'UTR|ACSBG1_ENST00000560817.1_5'UTR	p.W223*	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN			6	873	-			223					B2RB61|O75126|Q76N27|Q9HC26	Nonsense_Mutation	SNP	ENST00000258873.4	37	c.668G>A	CCDS10298.1	.	.	.	.	.	.	.	.	.	.	C	35	5.592260	0.96590	.	.	ENSG00000103740	ENST00000258873	.	.	.	5.49	5.49	0.81192	.	0.149009	0.48286	D	0.000196	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-19.4471	11.7867	0.52047	0.0:0.9207:0.0:0.0793	.	.	.	.	X	223	.	ENSP00000258873:W223X	W	-	2	0	ACSBG1	76262178	1.000000	0.71417	1.000000	0.80357	0.511000	0.34104	3.540000	0.53611	2.565000	0.86533	0.655000	0.94253	TGG		0.463	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	NM_015162		24	37	0	0	0	1	0	24	37				
RFXANK	8625	broad.mit.edu	37	19	19307810	19307810	+	Missense_Mutation	SNP	C	C	T	rs368808881		TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr19:19307810C>T	ENST00000303088.4	+	4	700	c.226C>T	c.(226-228)Cgg>Tgg	p.R76W	RFXANK_ENST00000353145.1_Missense_Mutation_p.R75W|RFXANK_ENST00000407360.3_Missense_Mutation_p.R76W|RFXANK_ENST00000392324.4_Missense_Mutation_p.R75W|RFXANK_ENST00000456252.3_Missense_Mutation_p.R76W	NM_003721.2	NP_003712.1	O14593	RFXK_HUMAN	regulatory factor X-associated ankyrin-containing protein	76					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Ras protein signal transduction (GO:0007265)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)			NS(1)|breast(1)|endometrium(1)|lung(8)|ovary(2)|prostate(1)	14			Epithelial(12;0.00228)			TCTCACCAACCGGCAGCGAGG	0.617																																						ENST00000303088.4																			0				NS(1)|breast(1)|endometrium(1)|lung(8)|ovary(2)|prostate(1)	14						c.(226-228)Cgg>Tgg		regulatory factor X-associated ankyrin-containing protein		C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	84.0	79.0	81.0		226,223	3.0	1.0	19		81	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RFXANK	NM_003721.2,NM_134440.1	101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	76/261,75/238	19307810	1,13005	2203	4300	6503	SO:0001583	missense	8625					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr19:19307810C>T	AF094760	CCDS12395.1, CCDS12396.1, CCDS62611.1	19p12	2014-09-17			ENSG00000064490	ENSG00000064490		"""Ankyrin repeat domain containing"""	9987	protein-coding gene	gene with protein product	"""ankyrin repeat-containing regulatory factor X-associated protein"", ""regulatory factor X subunit B"", ""RFX-Bdelta4"", ""DNA-binding protein RFXANK"""	603200				9806546, 10072068	Standard	NM_003721		Approved	BLS, RFX-B, ANKRA1, F14150_1, MGC138628	uc002nls.3	O14593	OTTHUMG00000169224	ENST00000303088.4:c.226C>T	19.37:g.19307810C>T	ENSP00000305071:p.Arg76Trp					RFXANK_ENST00000407360.3_Missense_Mutation_p.R76W|RFXANK_ENST00000456252.3_Missense_Mutation_p.R76W|RFXANK_ENST00000392324.4_Missense_Mutation_p.R75W|RFXANK_ENST00000353145.1_Missense_Mutation_p.R75W	p.R76W	NM_003721.2	NP_003712.1	O14593	RFXK_HUMAN	Epithelial(12;0.00228)		4	700	+			76					O95839|Q24JQ1|Q6FGA8	Missense_Mutation	SNP	ENST00000303088.4	37	c.226C>T	CCDS12395.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.013553	0.54468	0.0	1.16E-4	ENSG00000064490	ENST00000353145;ENST00000456252;ENST00000303088;ENST00000407360;ENST00000543652;ENST00000540981;ENST00000541873;ENST00000392324;ENST00000535017	T;T;T;T;T;T;T;T	0.67698	1.08;1.04;1.03;1.01;1.65;-0.28;1.08;1.25	5.16	2.96	0.34315	.	0.050754	0.85682	D	0.000000	T	0.75162	0.3812	L	0.51422	1.61	0.49213	D	0.999764	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.993;0.992;0.982	T	0.75258	-0.3381	10	0.87932	D	0	-31.4598	11.2392	0.48960	0.4831:0.5169:0.0:0.0	.	76;76;75;76	Q6IB23;Q24JQ1;O14593-2;O14593	.;.;.;RFXK_HUMAN	W	75;76;76;75;76;76;75;75;41	ENSP00000262804:R75W;ENSP00000409138:R76W;ENSP00000305071:R76W;ENSP00000384572:R75W;ENSP00000439581:R76W;ENSP00000440325:R76W;ENSP00000376138:R75W;ENSP00000444280:R41W	ENSP00000305071:R76W	R	+	1	2	RFXANK	19168810	1.000000	0.71417	1.000000	0.80357	0.334000	0.28698	1.799000	0.38824	0.539000	0.28788	-0.314000	0.08810	CGG		0.617	RFXANK-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402923.2	NM_003721		23	185	0	0	0	1	0	23	185				
TRIM54	57159	broad.mit.edu	37	2	27522276	27522276	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr2:27522276C>T	ENST00000380075.2	+	3	845	c.505C>T	c.(505-507)Cgc>Tgc	p.R169C	TRIM54_ENST00000296098.4_Missense_Mutation_p.R169C	NM_187841.2	NP_912730.2	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	169	Mediates microtubule-binding and homooligomerization. {ECO:0000250}.				cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|negative regulation of microtubule depolymerization (GO:0007026)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATTTACAAACGCCAGAAGGT	0.522																																						ENST00000296098.4																			0				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(505-507)Cgc>Tgc		tripartite motif containing 54							46.0	40.0	42.0					2																	27522276		2203	4300	6503	SO:0001583	missense	57159				cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding	g.chr2:27522276C>T	AJ291714	CCDS1745.2, CCDS1746.2	2p23.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000138100	ENSG00000138100		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16008	protein-coding gene	gene with protein product		606474	"""ring finger protein 30"", ""tripartite motif-containing 54"""	RNF30		11243782	Standard	NM_032546		Approved	MURF, MURF-3	uc002rjn.3	Q9BYV2	OTTHUMG00000097078	ENST00000380075.2:c.505C>T	2.37:g.27522276C>T	ENSP00000369415:p.Arg169Cys					TRIM54_ENST00000380075.2_Missense_Mutation_p.R169C	p.R169C	NM_032546.3	NP_115935.3	Q9BYV2	TRI54_HUMAN			3	775	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		169			Mediates microtubule-binding and homooligomerization (By similarity).		A5D8T7|Q53SY4|Q9BYV3	Missense_Mutation	SNP	ENST00000380075.2	37	c.505C>T	CCDS1746.2	.	.	.	.	.	.	.	.	.	.	C	21.0	4.087902	0.76642	.	.	ENSG00000138100	ENST00000380075;ENST00000296098	T;T	0.57907	0.37;0.37	5.57	5.57	0.84162	.	0.114431	0.56097	D	0.000031	T	0.60274	0.2256	L	0.47190	1.495	0.46564	D	0.999101	D;D	0.64830	0.994;0.973	P;P	0.57776	0.586;0.827	T	0.62539	-0.6833	10	0.72032	D	0.01	-26.0624	12.0465	0.53483	0.1722:0.8278:0.0:0.0	.	169;169	Q9BYV2;Q9BYV2-2	TRI54_HUMAN;.	C	169	ENSP00000369415:R169C;ENSP00000296098:R169C	ENSP00000296098:R169C	R	+	1	0	TRIM54	27375780	0.997000	0.39634	1.000000	0.80357	0.992000	0.81027	0.645000	0.24782	2.593000	0.87608	0.561000	0.74099	CGC		0.522	TRIM54-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214199.2	NM_187841		13	21	0	0	0	1	0	13	21				
FLNA	2316	broad.mit.edu	37	X	153593776	153593776	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chrX:153593776A>T	ENST00000369850.3	-	10	1744	c.1508T>A	c.(1507-1509)tTc>tAc	p.F503Y	FLNA_ENST00000422373.1_Missense_Mutation_p.F503Y|FLNA_ENST00000360319.4_Missense_Mutation_p.F503Y|FLNA_ENST00000344736.4_Missense_Mutation_p.F503Y	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	503					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTACACCTTGAAGTCAGCTGT	0.672																																						ENST00000422373.1																			0				breast(6)	6						c.(1507-1509)tTc>tAc		filamin A, alpha							55.0	57.0	57.0					X																	153593776		2026	4158	6184	SO:0001583	missense	0				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153593776A>T	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.1508T>A	X.37:g.153593776A>T	ENSP00000358866:p.Phe503Tyr					FLNA_ENST00000360319.4_Missense_Mutation_p.F503Y|FLNA_ENST00000344736.4_Missense_Mutation_p.F503Y|FLNA_ENST00000369850.3_Missense_Mutation_p.F503Y	p.F503Y	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			10	1756	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		503					E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.1508T>A	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	A	14.22	2.471267	0.43942	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.94000	-3.33;-3.33;-3.33;-3.33	4.44	4.44	0.53790	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	U	0.000001	D	0.97579	0.9207	H	0.97516	4.02	0.80722	D	1	B;P	0.51057	0.096;0.941	B;P	0.61940	0.042;0.896	D	0.98383	1.0559	10	0.87932	D	0	.	13.0106	0.58729	1.0:0.0:0.0:0.0	.	503;503	P21333-2;P21333	.;FLNA_HUMAN	Y	503;476;503;503;503	ENSP00000353467:F503Y;ENSP00000416926:F503Y;ENSP00000358866:F503Y;ENSP00000358863:F503Y	ENSP00000358863:F503Y	F	-	2	0	FLNA	153246970	1.000000	0.71417	0.998000	0.56505	0.960000	0.62799	9.336000	0.96533	1.438000	0.47492	0.438000	0.28831	TTC		0.672	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			8	85	0	0	0	1	0	8	85				
MYH2	4620	broad.mit.edu	37	17	10432336	10432336	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr17:10432336C>T	ENST00000245503.5	-	27	3799	c.3415G>A	c.(3415-3417)Gag>Aag	p.E1139K	MYH2_ENST00000532183.2_Intron|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E1139K	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1139					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CGCTGCTTCTCTGCTTTGGCC	0.582																																						ENST00000245503.5																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(3415-3417)Gag>Aag		myosin, heavy chain 2, skeletal muscle, adult							43.0	50.0	48.0					17																	10432336		2202	4294	6496	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10432336C>T		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.3415G>A	17.37:g.10432336C>T	ENSP00000245503:p.Glu1139Lys					MYH2_ENST00000397183.2_Missense_Mutation_p.E1139K|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron	p.E1139K	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			27	3799	-			1139					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.3415G>A	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	32	5.190151	0.94923	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.85339	-1.97;-1.97	5.09	5.09	0.68999	Myosin tail (1);	0.000000	0.39687	U	0.001290	D	0.95806	0.8635	H	0.98276	4.19	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.97451	1.0028	10	0.87932	D	0	.	18.6832	0.91554	0.0:1.0:0.0:0.0	.	1139	Q9UKX2	MYH2_HUMAN	K	1139	ENSP00000245503:E1139K;ENSP00000380367:E1139K	ENSP00000245503:E1139K	E	-	1	0	MYH2	10373061	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.350000	0.79385	2.660000	0.90430	0.591000	0.81541	GAG		0.582	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		34	70	0	0	0	1	0	34	70				
FASLG	356	broad.mit.edu	37	1	172628634	172628634	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr1:172628634G>T	ENST00000367721.2	+	1	477	c.293G>T	c.(292-294)gGc>gTc	p.G98V	FASLG_ENST00000340030.3_Missense_Mutation_p.G98V	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	98					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|cellular chloride ion homeostasis (GO:0030644)|endosomal lumen acidification (GO:0048388)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|immune response (GO:0006955)|inflammatory cell apoptotic process (GO:0006925)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of angiogenesis (GO:0016525)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to growth factor (GO:0070848)|response to lipopolysaccharide (GO:0032496)|retinal cell programmed cell death (GO:0046666)|signal transduction (GO:0007165)|T cell apoptotic process (GO:0070231)|transcription, DNA-templated (GO:0006351)	caveola (GO:0005901)|cytoplasmic membrane-bounded vesicle (GO:0016023)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						GTAGGATTGGGCCTGGGGATG	0.572																																					Ovarian(28;486 876 30334 44033)	ENST00000367721.2																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						c.(292-294)gGc>gTc		Fas ligand (TNF superfamily, member 6)							131.0	117.0	122.0					1																	172628634		2203	4300	6503	SO:0001583	missense	356				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity	g.chr1:172628634G>T	U11821	CCDS1304.1	1q23	2014-09-17	2005-01-07	2005-01-07	ENSG00000117560	ENSG00000117560		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"", ""Endogenous ligands"""	11936	protein-coding gene	gene with protein product		134638	"""tumor necrosis factor (ligand) superfamily, member 6"""	APT1LG1, TNFSF6		7826947, 9022072	Standard	NM_000639		Approved	FasL, CD178	uc001gis.3	P48023	OTTHUMG00000034841	ENST00000367721.2:c.293G>T	1.37:g.172628634G>T	ENSP00000356694:p.Gly98Val					FASLG_ENST00000340030.3_Missense_Mutation_p.G98V	p.G98V	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN			1	477	+			98					Q9BZP9	Missense_Mutation	SNP	ENST00000367721.2	37	c.293G>T	CCDS1304.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.616930	0.66672	.	.	ENSG00000117560	ENST00000340030;ENST00000367721	T;T	0.49139	0.79;1.28	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.49490	0.1560	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.55835	-0.8078	10	0.87932	D	0	-18.3839	14.5784	0.68268	0.0:0.0:1.0:0.0	.	98;98	P48023-2;P48023	.;TNFL6_HUMAN	V	98	ENSP00000344739:G98V;ENSP00000356694:G98V	ENSP00000344739:G98V	G	+	2	0	FASLG	170895257	1.000000	0.71417	0.867000	0.34043	0.935000	0.57460	4.366000	0.59492	2.291000	0.77112	0.563000	0.77884	GGC		0.572	FASLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084276.1			5	41	1	0	0.014758	1	0.0162338	5	41				
CNNM2	54805	broad.mit.edu	37	10	104809481	104809481	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr10:104809481A>G	ENST00000369878.4	+	2	1827	c.1639A>G	c.(1639-1641)Atc>Gtc	p.I547V	CNNM2_ENST00000433628.2_Missense_Mutation_p.I547V	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	547	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TCACCTGGCTATCGTGCAGCG	0.378																																						ENST00000369878.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19						c.(1639-1641)Atc>Gtc		cyclin M2							153.0	150.0	151.0					10																	104809481		1870	4150	6020	SO:0001583	missense	54805				ion transport	integral to membrane		g.chr10:104809481A>G	AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"""cyclin M2"""	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.1639A>G	10.37:g.104809481A>G	ENSP00000358894:p.Ile547Val					CNNM2_ENST00000457502.2_Missense_Mutation_p.I305V|CNNM2_ENST00000433628.2_Missense_Mutation_p.I547V	p.I547V	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	2	1763	+		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)	547			CBS 2.		Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Missense_Mutation	SNP	ENST00000369878.4	37	c.1639A>G	CCDS44474.1	.	.	.	.	.	.	.	.	.	.	A	18.66	3.672580	0.67928	.	.	ENSG00000148842	ENST00000457502;ENST00000433628;ENST00000369878;ENST00000345419	D;D	0.92805	-3.11;-3.11	5.61	5.61	0.85477	Cystathionine beta-synthase, core (1);	0.000000	0.85682	D	0.000000	D	0.87966	0.6311	L	0.31664	0.95	0.80722	D	1	B;B	0.29378	0.094;0.243	B;B	0.32928	0.155;0.074	D	0.85252	0.1045	10	0.30078	T	0.28	.	15.8222	0.78662	1.0:0.0:0.0:0.0	.	547;547	Q9H8M5-2;Q9H8M5	.;CNNM2_HUMAN	V	547	ENSP00000392875:I547V;ENSP00000358894:I547V	ENSP00000286899:I547V	I	+	1	0	CNNM2	104799471	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	8.855000	0.92236	2.133000	0.65898	0.454000	0.30748	ATC		0.378	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050113.3	NM_017649		7	128	0	0	0	1	0	7	128				
PHKG1	5260	broad.mit.edu	37	7	56145816	56145816	+	IGR	SNP	A	A	T			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr7:56145816A>T	ENST00000297373.2	-	0	1431				SUMF2_ENST00000437307.2_Nonsense_Mutation_p.K136*|SUMF2_ENST00000395435.2_Nonsense_Mutation_p.K140*|SUMF2_ENST00000395436.2_Nonsense_Mutation_p.K209*|SUMF2_ENST00000434526.2_Nonsense_Mutation_p.K224*|SUMF2_ENST00000342190.6_Nonsense_Mutation_p.K224*|SUMF2_ENST00000413756.1_Nonsense_Mutation_p.K205*|SUMF2_ENST00000275607.9_Nonsense_Mutation_p.K117*	NM_001258460.1|NM_006213.4	NP_001245389.1|NP_006204.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)						carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|tau-protein kinase activity (GO:0050321)			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CAAGGGAGACAAAGCTGAGGA	0.532																																					Melanoma(184;580 2064 5329 24177 35303)	ENST00000434526.2																			0				breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14						c.(670-672)Aaa>Taa		sulfatase modifying factor 2							136.0	116.0	123.0					7																	56145816		2203	4300	6503	SO:0001628	intergenic_variant	25870					endoplasmic reticulum lumen	metal ion binding	g.chr7:56145816A>T	X80590	CCDS5525.1, CCDS59057.1	7p11.2	2009-07-10			ENSG00000164776	ENSG00000164776	2.7.11.19		8930	protein-coding gene	gene with protein product		172470		PHKG		8530014	Standard	NM_001258459		Approved		uc011kdb.2	Q16816	OTTHUMG00000023869		7.37:g.56145816A>T						SUMF2_ENST00000275607.9_Nonsense_Mutation_p.K117*|SUMF2_ENST00000437307.2_Nonsense_Mutation_p.K136*|SUMF2_ENST00000342190.6_Nonsense_Mutation_p.K224*|SUMF2_ENST00000395435.2_Nonsense_Mutation_p.K140*|SUMF2_ENST00000395436.2_Nonsense_Mutation_p.K209*|SUMF2_ENST00000413756.1_Nonsense_Mutation_p.K205*	p.K224*	NM_001042469.1|NM_015411.2	NP_001035934.2|NP_056226.2	Q8NBJ7	SUMF2_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		7	701	+	Breast(14;0.214)		205					B7Z1D0|F5H2S1|Q75LP5	Nonsense_Mutation	SNP	ENST00000297373.2	37	c.670A>T	CCDS5525.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.262992	0.80358	.	.	ENSG00000129103	ENST00000395436;ENST00000434526;ENST00000275607;ENST00000395435;ENST00000413952;ENST00000342190;ENST00000437307;ENST00000413756;ENST00000451338	.	.	.	5.32	1.5	0.22942	.	0.512403	0.21035	N	0.081266	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-22.5447	6.1732	0.20429	0.6051:0.3141:0.0807:0.0	.	.	.	.	X	209;224;117;140;227;224;136;205;222	.	ENSP00000275607:K117X	K	+	1	0	SUMF2	56113310	0.820000	0.29190	0.632000	0.29296	0.628000	0.37860	1.755000	0.38379	0.377000	0.24735	0.482000	0.46254	AAA		0.532	PHKG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251587.1	NM_006213		16	117	0	0	0	1	0	16	117				
GLUD1	2746	broad.mit.edu	37	10	88819949	88819949	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr10:88819949A>C	ENST00000277865.4	-	9	1343	c.1247T>G	c.(1246-1248)aTc>aGc	p.I416S	GLUD1_ENST00000465164.1_5'Flank|GLUD1_ENST00000537649.1_Missense_Mutation_p.I249S|GLUD1_ENST00000544149.1_Missense_Mutation_p.I283S	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	416					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamine metabolic process (GO:0006541)|positive regulation of insulin secretion (GO:0032024)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|tricarboxylic acid metabolic process (GO:0072350)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|leucine binding (GO:0070728)|NAD+ binding (GO:0070403)			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					Hexachlorophene(DB00756)	CTCCAGGAAGATCTTGTCAGC	0.398																																						ENST00000277865.4																			0				endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22						c.(1246-1248)aTc>aGc		glutamate dehydrogenase 1	L-Glutamic Acid(DB00142)|NADH(DB00157)						143.0	142.0	142.0					10																	88819949		2203	4296	6499	SO:0001583	missense	2746				glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding	g.chr10:88819949A>C	M20867	CCDS7382.1	10q23.2	2010-03-17			ENSG00000148672	ENSG00000148672	1.4.1.3		4335	protein-coding gene	gene with protein product		138130		GLUD		2757358	Standard	NM_005271		Approved	GDH	uc001keh.3	P00367	OTTHUMG00000018666	ENST00000277865.4:c.1247T>G	10.37:g.88819949A>C	ENSP00000277865:p.Ile416Ser					GLUD1_ENST00000537649.1_Missense_Mutation_p.I249S|GLUD1_ENST00000544149.1_Missense_Mutation_p.I283S	p.I416S	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN			9	1343	-			416					B3KV55|B4DGN5|Q5TBU3	Missense_Mutation	SNP	ENST00000277865.4	37	c.1247T>G	CCDS7382.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.404659	0.83230	.	.	ENSG00000148672	ENST00000277865;ENST00000394415;ENST00000537649;ENST00000535802;ENST00000513510;ENST00000544149	D;D;D	0.97066	-4.23;-4.23;-4.23	5.11	5.11	0.69529	Glutamate/phenylalanine/leucine/valine dehydrogenase, C-terminal (2);NAD(P)-binding domain (1);	0.153378	0.56097	D	0.000024	D	0.98927	0.9636	H	0.96208	3.785	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.79108	0.982;0.992	D	0.99577	1.0972	10	0.87932	D	0	.	15.244	0.73493	1.0:0.0:0.0:0.0	.	283;416	B4DGN5;P00367	.;DHE3_HUMAN	S	416;373;249;115;348;283	ENSP00000277865:I416S;ENSP00000439291:I249S;ENSP00000444732:I283S	ENSP00000277865:I416S	I	-	2	0	GLUD1	88809929	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.904000	0.92590	2.054000	0.61138	0.456000	0.33151	ATC		0.398	GLUD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049188.1	NM_005271		7	157	0	0	0	1	0	7	157				
SOX3	6658	broad.mit.edu	37	X	139586763	139586763	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chrX:139586763G>A	ENST00000370536.2	-	1	462	c.463C>T	c.(463-465)Cgc>Tgc	p.R155C		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	155					central nervous system development (GO:0007417)|face development (GO:0060324)|hypothalamus development (GO:0021854)|negative regulation of neuron differentiation (GO:0045665)|neuron development (GO:0048666)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|sensory organ development (GO:0007423)|Sertoli cell development (GO:0060009)|sex determination (GO:0007530)|spermatid differentiation (GO:0048515)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R155C(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					GCCATTTTGCGCCGCTGCCCG	0.632																																						ENST00000370536.2																			1	Substitution - Missense(1)	p.R155C(1)	large_intestine(1)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10						c.(463-465)Cgc>Tgc		SRY (sex determining region Y)-box 3							49.0	50.0	50.0					X																	139586763		2203	4300	6503	SO:0001583	missense	6658				face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding	g.chrX:139586763G>A		CCDS14669.1	Xq27.1	2013-10-17			ENSG00000134595	ENSG00000134595		"""SRY (sex determining region Y)-boxes"""	11199	protein-coding gene	gene with protein product		313430	"""panhypopituitarism"""	PHP		15800844	Standard	NM_005634		Approved		uc004fbd.1	P41225	OTTHUMG00000022544	ENST00000370536.2:c.463C>T	X.37:g.139586763G>A	ENSP00000359567:p.Arg155Cys						p.R155C	NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN			1	462	-	Acute lymphoblastic leukemia(192;7.65e-05)		155					P35714|Q5JWI3|Q9NP49	Missense_Mutation	SNP	ENST00000370536.2	37	c.463C>T	CCDS14669.1	.	.	.	.	.	.	.	.	.	.	g	17.97	3.518465	0.64634	.	.	ENSG00000134595	ENST00000370536	D	0.99277	-5.67	4.12	4.12	0.48240	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	U	0.000000	D	0.99465	0.9810	M	0.93197	3.39	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98794	1.0737	9	.	.	.	.	10.1878	0.43009	0.0:0.0:0.8014:0.1986	.	155	P41225	SOX3_HUMAN	C	155	ENSP00000359567:R155C	.	R	-	1	0	SOX3	139414429	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.574000	0.53863	1.638000	0.50547	0.525000	0.51046	CGC		0.632	SOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058577.1			35	36	0	0	0	1	0	35	36				
TGM7	116179	broad.mit.edu	37	15	43584939	43584939	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr15:43584939G>A	ENST00000452443.2	-	3	411	c.407C>T	c.(406-408)aCt>aTt	p.T136I		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	136					peptide cross-linking (GO:0018149)		metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	TAGGATGAAAGTTCCCAGCGG	0.478																																						ENST00000452443.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39						c.(406-408)aCt>aTt		transglutaminase 7	L-Glutamine(DB00130)						121.0	132.0	128.0					15																	43584939		2201	4299	6500	SO:0001583	missense	116179				peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43584939G>A	AF363393	CCDS32213.1	15q15.2	2004-07-01				ENSG00000159495		"""Transglutaminases"""	30790	protein-coding gene	gene with protein product	"""transglutaminase Z"""	606776				11390390	Standard	NM_052955		Approved	TGMZ	uc001zrf.1	Q96PF1		ENST00000452443.2:c.407C>T	15.37:g.43584939G>A	ENSP00000389466:p.Thr136Ile						p.T136I	NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN		GBM - Glioblastoma multiforme(94;9.14e-07)	3	411	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	136						Missense_Mutation	SNP	ENST00000452443.2	37	c.407C>T	CCDS32213.1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.539191	0.27475	.	.	ENSG00000159495	ENST00000452443	D	0.88818	-2.43	5.32	-1.55	0.08558	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.900770	0.09670	N	0.771217	D	0.87374	0.6161	L	0.58583	1.82	0.09310	N	1	P	0.50710	0.938	B	0.44315	0.446	T	0.78797	-0.2063	10	0.38643	T	0.18	-1.2635	15.1427	0.72623	0.0:0.0:0.2116:0.7884	.	136	Q96PF1	TGM7_HUMAN	I	136	ENSP00000389466:T136I	ENSP00000389466:T136I	T	-	2	0	TGM7	41372231	0.034000	0.19679	0.840000	0.33206	0.009000	0.06853	1.043000	0.30316	-0.001000	0.14495	-0.314000	0.08810	ACT		0.478	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432489.1	NM_052955		66	86	0	0	0	1	0	66	86				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																0							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		12	60	0	0	0	1	0	12	60				
MVD	4597	broad.mit.edu	37	16	88719764	88719764	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr16:88719764C>A	ENST00000301012.3	-	9	1095	c.1066G>T	c.(1066-1068)Gct>Tct	p.A356S	MVD_ENST00000568709.1_5'Flank|CYBA_ENST00000261623.3_5'Flank|CYBA_ENST00000567174.1_5'Flank|CYBA_ENST00000569359.1_5'Flank|CYBA_ENST00000561972.1_5'Flank	NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN	mevalonate (diphospho) decarboxylase	356					cellular protein metabolic process (GO:0044267)|cholesterol biosynthetic process (GO:0006695)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|isoprenoid biosynthetic process (GO:0008299)|positive regulation of cell proliferation (GO:0008284)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|diphosphomevalonate decarboxylase activity (GO:0004163)|Hsp70 protein binding (GO:0030544)|protein homodimerization activity (GO:0042803)			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GCCAGCGCAGCCTGAAGCTCA	0.617																																						ENST00000301012.3																			0				endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12						c.(1066-1068)Gct>Tct		mevalonate (diphospho) decarboxylase							27.0	30.0	29.0					16																	88719764		2193	4298	6491	SO:0001583	missense	4597				cholesterol biosynthetic process|positive regulation of cell proliferation	cytosol	ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity	g.chr16:88719764C>A	U49260	CCDS10968.1	16q24.3	2010-04-29			ENSG00000167508	ENSG00000167508	4.1.1.33		7529	protein-coding gene	gene with protein product	"""mevalonate pyrophosphate decarboxylase"""	603236				8626466	Standard	NM_002461		Approved	MPD	uc002flg.1	P53602	OTTHUMG00000137865	ENST00000301012.3:c.1066G>T	16.37:g.88719764C>A	ENSP00000301012:p.Ala356Ser						p.A356S	NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0478)	9	1095	-			356					Q53Y65	Missense_Mutation	SNP	ENST00000301012.3	37	c.1066G>T	CCDS10968.1	.	.	.	.	.	.	.	.	.	.	C	4.014	-0.000097	0.07819	.	.	ENSG00000167508	ENST00000301012	T	0.41758	0.99	4.17	0.0631	0.14347	.	0.594657	0.17266	N	0.180587	T	0.11750	0.0286	N	0.01779	-0.725	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.28554	-1.0040	10	0.07990	T	0.79	-20.283	3.7056	0.08400	0.3027:0.4745:0.0:0.2228	.	356	P53602	MVD1_HUMAN	S	356	ENSP00000301012:A356S	ENSP00000301012:A356S	A	-	1	0	MVD	87247265	0.088000	0.21588	0.001000	0.08648	0.070000	0.16714	0.211000	0.17474	0.308000	0.22923	0.448000	0.29417	GCT		0.617	MVD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269547.2	NM_002461		3	35	1	0	1	1	1	3	35				
FLNB	2317	broad.mit.edu	37	3	58095050	58095050	+	Splice_Site	SNP	G	G	C			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr3:58095050G>C	ENST00000295956.4	+	14	2364		c.e14+1		FLNB_ENST00000429972.2_Splice_Site|FLNB_ENST00000358537.3_Splice_Site|FLNB_ENST00000490882.1_Splice_Site|FLNB_ENST00000419752.2_Splice_Site|FLNB_ENST00000493452.1_Splice_Site|FLNB_ENST00000357272.4_Splice_Site|FLNB_ENST00000348383.5_Splice_Site	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta						actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCCCTACAGGGTAGGTTGTGA	0.552																																						ENST00000357272.4																			0				NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120						c.e14+1		filamin B, beta							59.0	50.0	54.0					3																	58095050		2203	4300	6503	SO:0001630	splice_region_variant	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58095050G>C	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.2199+1G>C	3.37:g.58095050G>C						FLNB_ENST00000429972.2_Splice_Site|FLNB_ENST00000419752.2_Splice_Site|FLNB_ENST00000493452.1_Splice_Site|FLNB_ENST00000490882.1_Splice_Site|FLNB_ENST00000358537.3_Splice_Site|FLNB_ENST00000348383.5_Splice_Site|FLNB_ENST00000295956.4_Splice_Site				O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	14	2364	+								B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Splice_Site	SNP	ENST00000295956.4	37		CCDS2885.1	.	.	.	.	.	.	.	.	.	.	G	32	5.122827	0.94429	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5187	0.95176	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FLNB	58070090	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.813000	0.99286	2.699000	0.92147	0.655000	0.94253	.		0.552	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457	Intron	7	13	0	0	0	1	0	7	13				
GATC	283459	broad.mit.edu	37	12	120894951	120894951	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr12:120894951C>T	ENST00000551806.1	+	4	421	c.421C>T	c.(421-423)Cgt>Tgt	p.R141C	GATC_ENST00000551765.1_Silent_p.R109R																							ACTCCCATCGCGTCGTGGAGG	0.478											OREG0022192	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000551806.1																			0											c.(421-423)Cgt>Tgt									124.0	97.0	106.0					12																	120894951		2203	4300	6503	SO:0001583	missense	0							g.chr12:120894951C>T																												ENST00000551806.1:c.421C>T	12.37:g.120894951C>T	ENSP00000450281:p.Arg141Cys		OREG0022192	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1507	GATC_ENST00000551765.1_Silent_p.R109R	p.R141C							4	421	+									Missense_Mutation	SNP	ENST00000551806.1	37	c.421C>T		.	.	.	.	.	.	.	.	.	.	C	0.134	-1.110571	0.01813	.	.	ENSG00000111780	ENST00000551806	.	.	.	5.58	-8.18	0.01053	.	0.579130	0.19009	N	0.125130	T	0.22322	0.0538	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	T	0.19647	-1.0299	6	0.56958	D	0.05	-1.1464	1.1521	0.01788	0.2651:0.3474:0.1355:0.2521	.	.	.	.	C	141	.	ENSP00000450281:R141C	R	+	1	0	GATC	119379334	0.000000	0.05858	0.000000	0.03702	0.083000	0.17756	-1.177000	0.03096	-2.814000	0.00346	-2.351000	0.00242	CGT		0.478	AL021546.6-001	PUTATIVE	mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000403635.1			13	29	0	0	0	1	0	13	29				
HSPG2	3339	broad.mit.edu	37	1	22198783	22198783	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr1:22198783C>T	ENST00000374695.3	-	33	4196	c.4117G>A	c.(4117-4119)Gtg>Atg	p.V1373M		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1373	Laminin IV type A 3. {ECO:0000255|PROSITE-ProRule:PRU00458}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	ACGGGTTCCACAGTGAATTCT	0.592																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(4117-4119)Gtg>Atg		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						29.0	30.0	30.0					1																	22198783		2190	4286	6476	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22198783C>T	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.4117G>A	1.37:g.22198783C>T	ENSP00000363827:p.Val1373Met						p.V1373M	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	33	4196	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	1373			Laminin IV type A 3.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.4117G>A	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.468524	0.63625	.	.	ENSG00000142798	ENST00000374695	T	0.77750	-1.12	4.54	4.54	0.55810	Laminin B type IV (1);	0.000000	0.34338	N	0.004059	T	0.75831	0.3903	M	0.74881	2.28	0.58432	D	0.999998	P	0.39216	0.664	B	0.33568	0.166	T	0.80913	-0.1170	10	0.72032	D	0.01	.	14.7845	0.69790	0.0:1.0:0.0:0.0	.	1373	P98160	PGBM_HUMAN	M	1373	ENSP00000363827:V1373M	ENSP00000363827:V1373M	V	-	1	0	HSPG2	22071370	1.000000	0.71417	1.000000	0.80357	0.168000	0.22595	5.305000	0.65750	2.072000	0.62099	0.561000	0.74099	GTG		0.592	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		2	1	0	0	0	1	0	2	1				
KLHL15	80311	broad.mit.edu	37	X	24006740	24006740	+	Silent	SNP	T	T	C			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chrX:24006740T>C	ENST00000328046.8	-	4	1368	c.1113A>G	c.(1111-1113)gaA>gaG	p.E371E		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	371					protein ubiquitination (GO:0016567)					autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						CTACAGCAAATTCAGAGCGTG	0.458																																						ENST00000328046.8																			0				autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						c.(1111-1113)gaA>gaG		kelch-like family member 15							116.0	108.0	111.0					X																	24006740		2203	4300	6503	SO:0001819	synonymous_variant	80311							g.chrX:24006740T>C	AB051464	CCDS35217.1	Xp22.1-p21	2013-01-30	2013-01-30		ENSG00000174010	ENSG00000174010		"""Kelch-like"", ""BTB/POZ domain containing"""	29347	protein-coding gene	gene with protein product			"""kelch-like 15 (Drosophila)"""			11214970, 14702039	Standard	NM_030624		Approved	KIAA1677	uc004dba.4	Q96M94	OTTHUMG00000021261	ENST00000328046.8:c.1113A>G	X.37:g.24006740T>C							p.E371E	NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN			4	1368	-			371					Q32MN3|Q8NDA3|Q96BM6|Q9C0I6	Silent	SNP	ENST00000328046.8	37	c.1113A>G	CCDS35217.1																																																																																				0.458	KLHL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056078.1	XM_040383		87	109	0	0	0	1	0	87	109				
VWF	7450	broad.mit.edu	37	12	6128787	6128787	+	Missense_Mutation	SNP	G	G	A	rs61749370	byFrequency	TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr12:6128787G>A	ENST00000261405.5	-	28	4051	c.3797C>T	c.(3796-3798)cCg>cTg	p.P1266L		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1266			P -> L (in VWD2). {ECO:0000269|PubMed:8486782}.		blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	ATCGTGCAACGGCGGTTCCGA	0.612																																						ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129	GRCh37	CM090294|CM930727	VWF	M	rs61749370	c.(3796-3798)cCg>cTg		von Willebrand factor	Antihemophilic Factor(DB00025)						58.0	57.0	57.0					12																	6128787		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6128787G>A		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.3797C>T	12.37:g.6128787G>A	ENSP00000261405:p.Pro1266Leu						p.P1266L	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			28	4051	-			1266		P -> L (in VWD2).			Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.3797C>T	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	.	8.912	0.958985	0.18507	.	.	ENSG00000110799	ENST00000261405	T	0.33865	1.39	5.15	5.15	0.70609	.	0.000000	0.44097	D	0.000489	T	0.65238	0.2672	M	0.91972	3.26	0.80722	D	1	D	0.89917	1.0	D	0.65140	0.932	T	0.66763	-0.5841	10	0.21540	T	0.41	.	17.7812	0.88523	0.0:0.0:1.0:0.0	.	1266	P04275	VWF_HUMAN	L	1266	ENSP00000261405:P1266L	ENSP00000261405:P1266L	P	-	2	0	VWF	5999048	0.939000	0.31865	0.912000	0.35992	0.024000	0.10985	4.496000	0.60360	2.688000	0.91661	0.555000	0.69702	CCG		0.612	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		24	44	0	0	0	1	0	24	44				
ZBTB18	10472	broad.mit.edu	37	1	244217153	244217154	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr1:244217153_244217154delAG	ENST00000358704.4	+	2	226_227	c.77_78delAG	c.(76-78)cagfs	p.Q26fs		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1	Q99592	ZBT18_HUMAN	zinc finger and BTB domain containing 18	17	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron development (GO:0048666)|regulation of cell division (GO:0051302)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CTGAGCGAGCAGAGACACCAGG	0.505																																						ENST00000358704.4																			0											c.(76-78)cfs		zinc finger and BTB domain containing 18																																				SO:0001589	frameshift_variant	10472							g.chr1:244217153_244217154delAG	U38896	CCDS1622.1	1q44	2013-09-19	2013-01-09	2013-01-09	ENSG00000179456	ENSG00000179456		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13030	protein-coding gene	gene with protein product		608433	"""zinc finger protein 238"""	ZNF238		9568537, 9013868	Standard	NM_205768		Approved	C2H2-171, TAZ-1, RP58	uc031psv.1	Q99592	OTTHUMG00000040013	ENST00000358704.4:c.77_78delAG	1.37:g.244217155_244217156delAG	ENSP00000351539:p.Gln26fs						p.Q26fs	NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1					2	226_227	+								A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Frame_Shift_Del	DEL	ENST00000358704.4	37	c.77_78delAG	CCDS1622.1																																																																																				0.505	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096513.2	NM_205768		7	76						7	76	---	---	---	---
BRE	9577	broad.mit.edu	37	2	28210865	28210865	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr2:28210865delA	ENST00000342045.2	+	5	352	c.211delA	c.(211-213)atcfs	p.I72fs	BRE_ENST00000361704.2_Frame_Shift_Del_p.I72fs|BRE_ENST00000379632.2_Frame_Shift_Del_p.I72fs|BRE_ENST00000603461.1_3'UTR|BRE_ENST00000344773.2_Frame_Shift_Del_p.I72fs|BRE_ENST00000379624.1_Frame_Shift_Del_p.I72fs	NM_199194.2	NP_954664.1			brain and reproductive organ-expressed (TNFRSF1A modulator)											NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					TTCAGGGGATATCATTTTCAA	0.378																																						ENST00000344773.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23						c.(211-213)tcfs		brain and reproductive organ-expressed (TNFRSF1A modulator)							147.0	165.0	159.0					2																	28210865		2203	4300	6503	SO:0001589	frameshift_variant	9577				apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding	g.chr2:28210865delA	AF015767	CCDS1763.1, CCDS1764.1, CCDS1765.1	2p23	2008-02-05			ENSG00000158019	ENSG00000158019			1106	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 4"""	610497				9737713, 7826398	Standard	NM_004899		Approved	BRCC45, BRCC4	uc002rls.3	Q9NXR7	OTTHUMG00000097831	ENST00000342045.2:c.211delA	2.37:g.28210865delA	ENSP00000339371:p.Ile72fs					BRE_ENST00000379632.2_Frame_Shift_Del_p.I72fs|BRE_ENST00000361704.2_Frame_Shift_Del_p.I72fs|BRE_ENST00000603461.1_3'UTR|BRE_ENST00000342045.2_Frame_Shift_Del_p.I72fs|BRE_ENST00000379624.1_Frame_Shift_Del_p.I72fs	p.I72fs	NM_004899.4	NP_004890.2	Q9NXR7	BRE_HUMAN			4	349	+	Acute lymphoblastic leukemia(172;0.155)		72			UEV-like 1.			Frame_Shift_Del	DEL	ENST00000342045.2	37	c.211delA	CCDS1763.1																																																																																				0.378	BRE-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215114.1			12	237						12	237	---	---	---	---
LINC01158	100506421	broad.mit.edu	37	2	105440965	105440966	+	RNA	INS	-	-	TGG	rs200827416|rs376797707		TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr2:105440965_105440966insTGG	ENST00000458253.1	-	0	147				AC018730.1_ENST00000454729.1_RNA|AC018730.1_ENST00000447876.1_RNA|AC018730.1_ENST00000413121.1_RNA|AC018730.1_ENST00000443988.1_RNA																							gatggtggtgatggtggtggtg	0.569																																						ENST00000458253.1																			0																																																			0							g.chr2:105440965_105440966insTGG																													2.37:g.105440972_105440974dupTGG						AC018730.1_ENST00000447876.1_RNA|AC018730.1_ENST00000413121.1_RNA|AC018730.1_ENST00000454729.1_RNA|AC018730.1_ENST00000443988.1_RNA								0	147	-									RNA	INS	ENST00000458253.1	37																																																																																						0.569	AC018730.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000329327.1			3	4						3	4	---	---	---	---
GBX2	2637	broad.mit.edu	37	2	237076427	237076429	+	In_Frame_Del	DEL	GGC	GGC	-	rs557135639|rs559648034	byFrequency	TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr2:237076427_237076429delGGC	ENST00000306318.4	-	1	583_585	c.186_188delGCC	c.(184-189)ccgccc>ccc	p.62_63PP>P	GBX2_ENST00000551105.1_In_Frame_Del_p.62_63PP>P|GBX2_ENST00000465889.1_5'Flank|AC079135.1_ENST00000483218.1_RNA|AC079135.1_ENST00000415226.1_RNA	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2	62	Poly-Pro.				autonomic nervous system development (GO:0048483)|axon guidance (GO:0007411)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellum development (GO:0021549)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|patterning of blood vessels (GO:0001569)|rhombomere 2 development (GO:0021568)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		GGGCAGCGCGggcggcggcggcg	0.754																																						ENST00000306318.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						c.(184-189)ccc>cc		gastrulation brain homeobox 2																																				SO:0001651	inframe_deletion	2637					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:237076427_237076429delGGC	AF118452	CCDS2515.1	2q37.2	2012-03-09	2005-12-22		ENSG00000168505	ENSG00000168505		"""Homeoboxes / ANTP class : HOXL subclass"""	4186	protein-coding gene	gene with protein product		601135	"""gastrulation brain homeo box 2"""			9346236, 8838315	Standard	XM_005246071		Approved		uc002vvw.1	P52951	OTTHUMG00000133294	ENST00000306318.4:c.186_188delGCC	2.37:g.237076436_237076438delGGC	ENSP00000302251:p.Pro63del					AC079135.1_ENST00000415226.1_RNA|GBX2_ENST00000551105.1_In_Frame_Del_p.PP62del|AC079135.1_ENST00000483218.1_RNA	p.PP62del	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)	1	583_585	-		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)	62			Poly-Pro.		B2RPH7|O43833|Q53RX5|Q9Y5Y1	In_Frame_Del	DEL	ENST00000306318.4	37	c.186_188delGCC	CCDS2515.1																																																																																				0.754	GBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257078.3	NM_001485		2	4						2	4	---	---	---	---
FETUB	26998	broad.mit.edu	37	3	186362544	186362544	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr3:186362544delA	ENST00000265029.3	+	4	530	c.429delA	c.(427-429)tcafs	p.S143fs	RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000450521.1_Frame_Shift_Del_p.S143fs|FETUB_ENST00000488561.1_3'UTR|FETUB_ENST00000539949.1_5'UTR|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000382134.3_Frame_Shift_Del_p.S78fs|FETUB_ENST00000382136.3_Frame_Shift_Del_p.S106fs	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	143					binding of sperm to zona pellucida (GO:0007339)|negative regulation of endopeptidase activity (GO:0010951)|single fertilization (GO:0007338)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		CAACAGTTTCAAAAAAAAAGA	0.418																																						ENST00000265029.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20						c.(427-429)tcfs		fetuin B							91.0	87.0	89.0					3																	186362544		2203	4300	6503	SO:0001589	frameshift_variant	26998					extracellular space	cysteine-type endopeptidase inhibitor activity	g.chr3:186362544delA	AJ242928	CCDS3279.1	3q27.3	2008-05-15			ENSG00000090512	ENSG00000090512			3658	protein-coding gene	gene with protein product		605954				10947975	Standard	XM_005247350		Approved		uc003fqn.3	Q9UGM5	OTTHUMG00000156586	ENST00000265029.3:c.429delA	3.37:g.186362544delA	ENSP00000265029:p.Ser143fs					FETUB_ENST00000450521.1_Frame_Shift_Del_p.S143fs|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000539949.1_5'UTR|FETUB_ENST00000382134.3_Frame_Shift_Del_p.S78fs|FETUB_ENST00000382136.3_Frame_Shift_Del_p.S106fs|FETUB_ENST00000488561.1_3'UTR|RP11-134F2.2_ENST00000428501.1_RNA	p.S143fs	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)	4	530	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		143					B2RCW6|E9PG06|Q1RMZ0|Q5J876|Q6DK58|Q6GRB6|Q9Y6Z0	Frame_Shift_Del	DEL	ENST00000265029.3	37	c.429delA	CCDS3279.1																																																																																				0.418	FETUB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344679.1	NM_014375		9	122						9	122	---	---	---	---
JARID2	3720	broad.mit.edu	37	6	15504753	15504755	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr6:15504753_15504755delCTT	ENST00000341776.2	+	9	2715_2717	c.2471_2473delCTT	c.(2470-2475)actttt>att	p.824_825TF>I	JARID2_ENST00000397311.3_In_Frame_Del_p.652_653TF>I|JARID2_ENST00000541660.1_In_Frame_Del_p.786_787TF>I|JARID2_ENST00000474854.1_3'UTR	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	824					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				TCTCTAACAACTTTTTATCGAAC	0.483																																						ENST00000341776.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59						c.(2470-2475)att>a		jumonji, AT rich interactive domain 2																																				SO:0001651	inframe_deletion	3720				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	g.chr6:15504753_15504755delCTT	U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.2471_2473delCTT	6.37:g.15504753_15504755delCTT	ENSP00000341280:p.Thr824_Phe825delinsIle					JARID2_ENST00000474854.1_3'UTR|JARID2_ENST00000397311.3_In_Frame_Del_p.TF652del|JARID2_ENST00000541660.1_In_Frame_Del_p.TF786del	p.TF824del	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN			9	2715_2717	+	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)	824					A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	In_Frame_Del	DEL	ENST00000341776.2	37	c.2471_2473delCTT	CCDS4533.1																																																																																				0.483	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973		11	70						11	70	---	---	---	---
ZNF292	23036	broad.mit.edu	37	6	87965943	87965944	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr6:87965943_87965944delGA	ENST00000369577.3	+	8	2639_2640	c.2596_2597delGA	c.(2596-2598)gagfs	p.E866fs	ZNF292_ENST00000339907.4_Frame_Shift_Del_p.E861fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	866						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AGAGAATATTGAGAAAGAAAGA	0.401																																						ENST00000369577.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(2596-2598)gfs		zinc finger protein 292																																				SO:0001589	frameshift_variant	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87965943_87965944delGA	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.2596_2597delGA	6.37:g.87965945_87965946delGA	ENSP00000358590:p.Glu866fs					ZNF292_ENST00000339907.4_Frame_Shift_Del_p.E861fs	p.E866fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	2639_2640	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	866					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Frame_Shift_Del	DEL	ENST00000369577.3	37	c.2596_2597delGA	CCDS47457.1																																																																																				0.401	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		7	54						7	54	---	---	---	---
ZNF292	23036	broad.mit.edu	37	6	87966376	87966377	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr6:87966376_87966377delCT	ENST00000369577.3	+	8	3072_3073	c.3029_3030delCT	c.(3028-3030)actfs	p.T1010fs	ZNF292_ENST00000339907.4_Frame_Shift_Del_p.T1005fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1010						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AATTCAGAAACTCTCAAAATAG	0.356																																						ENST00000369577.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(3028-3030)afs		zinc finger protein 292																																				SO:0001589	frameshift_variant	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87966376_87966377delCT	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.3029_3030delCT	6.37:g.87966378_87966379delCT	ENSP00000358590:p.Thr1010fs					ZNF292_ENST00000339907.4_Frame_Shift_Del_p.T1005fs	p.T1010fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	3072_3073	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	1010					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Frame_Shift_Del	DEL	ENST00000369577.3	37	c.3029_3030delCT	CCDS47457.1																																																																																				0.356	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		11	29						11	29	---	---	---	---
SPDYE1	285955	broad.mit.edu	37	7	44042300	44042301	+	Frame_Shift_Del	DEL	CT	CT	-	rs375455660		TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr7:44042300_44042301delCT	ENST00000258704.3	+	2	508_509	c.371_372delCT	c.(370-372)cctfs	p.P124fs	AC004951.6_ENST00000447643.1_lincRNA|RP5-1165K10.2_ENST00000454572.1_RNA|POLR2J4_ENST00000427076.1_RNA	NM_001099435.2|NM_175064.2	NP_001092905.2|NP_778234.2	Q8NFV5	SPDE1_HUMAN	speedy/RINGO cell cycle regulator family member E1	124										endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	11						GTGCTCGCCCCTGAGCCTGAGG	0.614																																						ENST00000258704.3																			0				endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	11						c.(370-372)cfs		speedy/RINGO cell cycle regulator family member E1																																				SO:0001589	frameshift_variant	285955							g.chr7:44042300_44042301delCT	AF412027	CCDS5475.1	7q11.23	2013-05-08	2013-05-08	2009-02-17	ENSG00000136206	ENSG00000136206		"""Speedy homologs"""	16408	protein-coding gene	gene with protein product	"""Speedy E"""		"""Williams Beuren syndrome chromosome region 19"", ""speedy homolog E1 (Xenopus laevis)"""	WBSCR19		12073013	Standard	NM_175064		Approved	Ringo1, SPDYE	uc003tjf.3	Q8NFV5	OTTHUMG00000128985	ENST00000258704.3:c.371_372delCT	7.37:g.44042300_44042301delCT	ENSP00000258704:p.Pro124fs					POLR2J4_ENST00000427076.1_RNA	p.P124fs	NM_001099435.2|NM_175064.2	NP_001092905.2|NP_778234.2	Q8NFV5	SPDE1_HUMAN			2	508_509	+			124					Q9NTH5	Frame_Shift_Del	DEL	ENST00000258704.3	37	c.371_372delCT	CCDS5475.1																																																																																				0.614	SPDYE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250974.1	NM_175064		19	25						19	25	---	---	---	---
ASL	435	broad.mit.edu	37	7	65554152	65554155	+	Frame_Shift_Del	DEL	TGTT	TGTT	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr7:65554152_65554155delTGTT	ENST00000304874.9	+	12	1010_1013	c.908_911delTGTT	c.(907-912)gtgtttfs	p.VF303fs	ASL_ENST00000380839.4_Frame_Shift_Del_p.VF277fs|AC068533.7_ENST00000450043.1_Frame_Shift_Del_p.CV71fs|ASL_ENST00000395331.3_Frame_Shift_Del_p.VF303fs|ASL_ENST00000395332.3_Frame_Shift_Del_p.VF303fs	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	303					arginine biosynthetic process via ornithine (GO:0042450)|arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|internal protein amino acid acetylation (GO:0006475)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	argininosuccinate lyase activity (GO:0004056)			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	GCTGGGCGTGTGTTTGGGCGGGTG	0.672																																						ENST00000304874.9																			0				breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18						c.(907-912)gtfs		argininosuccinate lyase	L-Arginine(DB00125)																																			SO:0001589	frameshift_variant	435				arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity	g.chr7:65554152_65554155delTGTT		CCDS5531.1, CCDS47597.1, CCDS47598.1	7q11.21	2012-10-02			ENSG00000126522	ENSG00000126522	4.3.2.1		746	protein-coding gene	gene with protein product		608310					Standard	NM_001024943		Approved		uc003tuo.3	P04424	OTTHUMG00000022876	ENST00000304874.9:c.908_911delTGTT	7.37:g.65554152_65554155delTGTT	ENSP00000307188:p.Val303fs					ASL_ENST00000395331.3_Frame_Shift_Del_p.VF303fs|ASL_ENST00000395332.3_Frame_Shift_Del_p.VF303fs|AC068533.7_ENST00000450043.1_Frame_Shift_Del_p.CV71fs|ASL_ENST00000380839.4_Frame_Shift_Del_p.VF277fs	p.VF303fs	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN			12	1010_1013	+			303					E7EMI0|E9PE48|Q6LDS5|Q96HS2	Frame_Shift_Del	DEL	ENST00000304874.9	37	c.908_911delTGTT	CCDS5531.1																																																																																				0.672	ASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251695.2	NM_000048		10	88						10	88	---	---	---	---
GNAI1	2770	broad.mit.edu	37	7	79846804	79846805	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr7:79846804_79846805delTT	ENST00000351004.3	+	8	1433_1434	c.1060_1061delTT	c.(1060-1062)tttfs	p.F354fs	GNAI1_ENST00000457358.2_Frame_Shift_Del_p.F302fs	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	354					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|response to peptide hormone (GO:0043434)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						TTGTGGTCTCTTTTAAGTTTTG	0.342																																						ENST00000351004.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1060-1062)tfs		guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1																																				SO:0001589	frameshift_variant	2770				cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody|nucleus	G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity	g.chr7:79846804_79846805delTT	AL049933	CCDS5595.1, CCDS59061.1	7q21-q22	2008-07-18			ENSG00000127955	ENSG00000127955			4384	protein-coding gene	gene with protein product	"""Gi1 protein alpha subunit"""	139310				3110783	Standard	NM_002069		Approved		uc003uhb.1	P63096	OTTHUMG00000023523	ENST00000351004.3:c.1060_1061delTT	7.37:g.79846806_79846807delTT	ENSP00000343027:p.Phe354fs					GNAI1_ENST00000457358.2_Frame_Shift_Del_p.F302fs	p.F354fs	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN			8	1433_1434	+			354					A8KA88|B4E2V1|C9J3A4|P04898|P11015|P31871|Q5U074|Q8TAN5|Q9UGA4	Frame_Shift_Del	DEL	ENST00000351004.3	37	c.1060_1061delTT	CCDS5595.1																																																																																				0.342	GNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253254.1	NM_002069		13	28						13	28	---	---	---	---
CLU	1191	broad.mit.edu	37	8	27466456	27466459	+	Splice_Site	DEL	TCTT	TCTT	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr8:27466456_27466459delTCTT	ENST00000316403.10	-	3	647_650	c.242_245delAAGA	c.(241-246)aaagag>ag	p.KE81fs	CLU_ENST00000405140.3_Splice_Site_p.KE81fs|CLU_ENST00000560366.1_Splice_Site_p.KE133fs|CLU_ENST00000523500.1_Splice_Site_p.KE81fs|CLU_ENST00000546343.1_Splice_Site_p.KE92fs			P10909	CLUS_HUMAN	clusterin	81					blood coagulation (GO:0007596)|cell morphogenesis (GO:0000902)|central nervous system myelin maintenance (GO:0032286)|chaperone-mediated protein complex assembly (GO:0051131)|chaperone-mediated protein folding (GO:0061077)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|lipid metabolic process (GO:0006629)|microglial cell activation (GO:0001774)|microglial cell proliferation (GO:0061518)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of protein homooligomerization (GO:0032463)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of neurofibrillary tangle assembly (GO:1902998)|positive regulation of neuron death (GO:1901216)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of tau-protein kinase activity (GO:1902949)|positive regulation of tumor necrosis factor production (GO:0032760)|protein import (GO:0017038)|protein stabilization (GO:0050821)|regulation of beta-amyloid clearance (GO:1900221)|regulation of neuron death (GO:1901214)|regulation of neuronal signal transduction (GO:1902847)|release of cytochrome c from mitochondria (GO:0001836)|response to misfolded protein (GO:0051788)|response to virus (GO:0009615)|reverse cholesterol transport (GO:0043691)	apical dendrite (GO:0097440)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|spherical high-density lipoprotein particle (GO:0034366)	misfolded protein binding (GO:0051787)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		CCTCCTGACCTCTTTCTTCTTCTT	0.559																																						ENST00000316403.10																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21						c.e3+1		clusterin																																				SO:0001630	splice_region_variant	1191				chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding	g.chr8:27466456_27466459delTCTT	M64722	CCDS47832.1	8p21-p12	2012-11-30	2006-02-10		ENSG00000120885	ENSG00000120885			2095	protein-coding gene	gene with protein product	"""complement lysis inhibitor"", ""sulfated glycoprotein 2"", ""testosterone-repressed prostate message 2"", ""apolipoprotein J"""	185430	"""clusterin (complement lysis inhibitor, SP-40,40, sulfated glycoprotein 2, testosterone-repressed prostate message 2, apolipoprotein J)"""	CLI, APOJ		1585460	Standard	NR_038335		Approved	SGP-2, SP-40, TRPM-2, KUB1, CLU1, CLU2	uc003xfz.2	P10909	OTTHUMG00000102114	ENST00000316403.10:c.246+1AAGA>-	8.37:g.27466460_27466463delTCTT						CLU_ENST00000405140.3_Splice_Site_p.KE81_splice|CLU_ENST00000560366.1_Splice_Site_p.KE133_splice|CLU_ENST00000546343.1_Splice_Site_p.KE92_splice|CLU_ENST00000523500.1_Splice_Site_p.KE81_splice	p.KE81_splice			P10909	CLUS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)	3	647_650	-		Ovarian(32;2.61e-05)	81					B2R9Q1|B3KSE6|P11380|P11381|Q2TU75|Q5HYC1|Q7Z5B9	Splice_Site	DEL	ENST00000316403.10	37	c.246_splice	CCDS47832.1																																																																																				0.559	CLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219953.3	NM_001831	Frame_Shift_Del	7	151						7	151	---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139413070	139413072	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr9:139413070_139413072delAGA	ENST00000277541.6	-	6	1145_1147	c.1070_1072delTCT	c.(1069-1074)ttctac>tac	p.F357del	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	357	EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F357delF(4)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CACTCGCAGTAGAAGGAGGCCAC	0.655			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		4	Deletion - In frame(4)	p.F357delF(4)	upper_aerodigestive_tract(2)|central_nervous_system(2)	breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(1069-1074)tac>t		notch 1																																				SO:0001651	inframe_deletion	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139413070_139413072delAGA	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1070_1072delTCT	9.37:g.139413070_139413072delAGA	ENSP00000277541:p.Phe357del	HNSCC(8;0.001)					p.FY357del	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	6	1145_1147	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	357			EGF-like 9; calcium-binding (Potential).		Q59ED8|Q5SXM3	In_Frame_Del	DEL	ENST00000277541.6	37	c.1070_1072delTCT	CCDS43905.1																																																																																				0.655	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		10	20						10	20	---	---	---	---
KAT6B	23522	broad.mit.edu	37	10	76788369	76788370	+	Frame_Shift_Del	DEL	AA	AA	-	rs199470472		TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr10:76788369_76788370delAA	ENST00000287239.4	+	18	4276_4277	c.3787_3788delAA	c.(3787-3789)aaafs	p.K1263fs	KAT6B_ENST00000372725.1_Frame_Shift_Del_p.K971fs|KAT6B_ENST00000372724.1_Frame_Shift_Del_p.K971fs|KAT6B_ENST00000372711.1_Frame_Shift_Del_p.K1080fs|KAT6B_ENST00000372714.1_Frame_Shift_Del_p.K971fs	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1263					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										GAGGCAAAACAAAGAGAGGAAG	0.46																																						ENST00000287239.4																			0											c.(3787-3789)afs		K(lysine) acetyltransferase 6B																																				SO:0001589	frameshift_variant	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76788369_76788370delAA	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.3787_3788delAA	10.37:g.76788369_76788370delAA	ENSP00000287239:p.Lys1263fs					KAT6B_ENST00000372724.1_Frame_Shift_Del_p.K971fs|KAT6B_ENST00000372725.1_Frame_Shift_Del_p.K971fs|KAT6B_ENST00000372711.1_Frame_Shift_Del_p.K1080fs|KAT6B_ENST00000372714.1_Frame_Shift_Del_p.K971fs	p.K1263fs	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN			18	4276_4277	+			1263					O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Frame_Shift_Del	DEL	ENST00000287239.4	37	c.3787_3788delAA	CCDS7345.1																																																																																				0.460	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		7	79						7	79	---	---	---	---
ANO9	338440	broad.mit.edu	37	11	418481	418483	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr11:418481_418483delTCT	ENST00000332826.6	-	23	2321_2323	c.2237_2239delAGA	c.(2236-2241)aagatg>atg	p.K746del	SIGIRR_ENST00000332725.3_5'Flank|SIGIRR_ENST00000382520.2_5'Flank|SIGIRR_ENST00000397632.3_5'Flank	NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	746					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|negative regulation of intracellular calcium activated chloride channel activity (GO:1902939)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						CCATGCCACATCTTCTCACGCAG	0.621																																						ENST00000332826.6																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						c.(2236-2241)atg>a		anoctamin 9																																				SO:0001651	inframe_deletion	338440					chloride channel complex	chloride channel activity	g.chr11:418481_418483delTCT	U33271	CCDS31326.1	11p15.5	2014-04-09	2008-08-28	2008-08-28	ENSG00000185101	ENSG00000185101		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	20679	protein-coding gene	gene with protein product			"""tumor protein p53 inducible protein 5"", ""transmembrane protein 16J"""	TP53I5, TMEM16J		9305847, 24692353	Standard	NM_001012302		Approved	PIG5	uc001lpi.2	A1A5B4	OTTHUMG00000165446	ENST00000332826.6:c.2237_2239delAGA	11.37:g.418484_418486delTCT	ENSP00000332788:p.Lys746del						p.KM746del	NM_001012302.2	NP_001012302.2	A1A5B4	ANO9_HUMAN			23	2321_2323	-			746					B3KUC4|B4E134|Q8TEN4	In_Frame_Del	DEL	ENST00000332826.6	37	c.2237_2239delAGA	CCDS31326.1																																																																																				0.621	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384116.1	NM_001012302		51	105						51	105	---	---	---	---
NDUFS3	4722	broad.mit.edu	37	11	47603920	47603922	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr11:47603920_47603922delTCT	ENST00000263774.4	+	6	609_611	c.527_529delTCT	c.(526-531)gtcttc>gtc	p.F178del	NDUFS3_ENST00000533507.1_3'UTR	NM_004551.2	NP_004542.1	O75489	NDUS3_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)	178					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)	9					Doxorubicin(DB00997)	ATGTTTGGAGTCTTCTTTGCTAA	0.483																																					Pancreas(15;551 601 22438 23457 52512)	ENST00000263774.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)	9						c.(526-531)gtc>g		NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)	NADH(DB00157)																																			SO:0001651	inframe_deletion	4722				induction of apoptosis|mitochondrial electron transport, NADH to ubiquinone|negative regulation of cell growth|reactive oxygen species metabolic process|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr11:47603920_47603922delTCT	AF067139	CCDS7941.1	11p11.11	2011-08-03	2002-08-29		ENSG00000213619	ENSG00000213619	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7710	protein-coding gene	gene with protein product	"""complex I 30kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial"""	603846	"""NADH dehydrogenase (ubiquinone) Fe-S protein 3 (30kD) (NADH-coenzyme Q reductase)"""			9763677	Standard	NM_004551		Approved	CI-30	uc001nga.2	O75489	OTTHUMG00000166893	ENST00000263774.4:c.527_529delTCT	11.37:g.47603923_47603925delTCT	ENSP00000263774:p.Phe178del					NDUFS3_ENST00000533507.1_3'UTR	p.VF176del	NM_004551.2	NP_004542.1	O75489	NDUS3_HUMAN			6	609_611	+			176					B2R9J1|B4DFM8|Q9UNQ8	In_Frame_Del	DEL	ENST00000263774.4	37	c.527_529delTCT	CCDS7941.1																																																																																				0.483	NDUFS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391749.1	NM_004551		38	365						38	365	---	---	---	---
SNX32	254122	broad.mit.edu	37	11	65618541	65618543	+	In_Frame_Del	DEL	TTT	TTT	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr11:65618541_65618543delTTT	ENST00000308342.6	+	7	1044_1046	c.619_621delTTT	c.(619-621)tttdel	p.F207del		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	207					intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		GGATGACTTCTTTGAGCATGAGA	0.596																																						ENST00000308342.6																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(619-621)del		sorting nexin 32																																				SO:0001651	inframe_deletion	254122				cell communication|protein transport		phosphatidylinositol binding	g.chr11:65618541_65618543delTTT	AK055496	CCDS8113.2	11q13.1	2008-03-11	2008-03-11	2008-03-11	ENSG00000172803	ENSG00000172803		"""Sorting nexins"""	26423	protein-coding gene	gene with protein product			"""sorting nexin 6B"""	SNX6B		16782399	Standard	XM_005273871		Approved	FLJ30934	uc001ofr.3	Q86XE0	OTTHUMG00000128491	ENST00000308342.6:c.619_621delTTT	11.37:g.65618541_65618543delTTT	ENSP00000310620:p.Phe207del						p.F207del	NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN		READ - Rectum adenocarcinoma(159;0.171)	7	1044_1046	+			207					Q8IW53|Q96NG4	In_Frame_Del	DEL	ENST00000308342.6	37	c.619_621delTTT	CCDS8113.2																																																																																				0.596	SNX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250295.3	NM_152760		14	228						14	228	---	---	---	---
CREBZF	58487	broad.mit.edu	37	11	85375242	85375244	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr11:85375242_85375244delCTT	ENST00000527447.1	-	1	902_904	c.676_678delAAG	c.(676-678)aagdel	p.K226del	CREBZF_ENST00000531515.1_Intron|CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000398294.2_In_Frame_Del_p.K144del	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	226	Basic motif. {ECO:0000250}.|bZIP.				negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K226delK(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				TCACGTACTCCTTCTTCTTCAGT	0.665											OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(172;674 2044 9050 18334 41735)	ENST00000527447.1																			1	Deletion - In frame(1)	p.K226delK(1)	large_intestine(1)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(676-678)del		CREB/ATF bZIP transcription factor				5,3619		2,1,1809						4.9	1.0			62	8,7784		3,2,3891	no	coding	CREBZF	NM_001039618.2		5,3,5700	A1A1,A1R,RR		0.1027,0.138,0.1139				13,11403				SO:0001651	inframe_deletion	58487				negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:85375242_85375244delCTT	AF039942	CCDS41697.1	11q14.1	2013-01-10			ENSG00000137504	ENSG00000137504		"""basic leucine zipper proteins"""	24905	protein-coding gene	gene with protein product	"""Zhangfei"""	606444				10871379	Standard	NM_001039618		Approved	ZF	uc001pas.2	Q9NS37	OTTHUMG00000133648	ENST00000527447.1:c.676_678delAAG	11.37:g.85375248_85375250delCTT	ENSP00000433459:p.Lys226del		OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1236	CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000398294.2_In_Frame_Del_p.K144del|CREBZF_ENST00000531515.1_Intron	p.K226del	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN			1	902_904	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	226					B2R8Q9|Q0P5U9|Q52LT3	In_Frame_Del	DEL	ENST00000527447.1	37	c.676_678delAAG	CCDS41697.1																																																																																				0.665	CREBZF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390191.2	NM_001039618		12	173						12	173	---	---	---	---
RBM7	10179	broad.mit.edu	37	11	114278270	114278273	+	Frame_Shift_Del	DEL	TCAA	TCAA	-	rs368476669		TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr11:114278270_114278273delTCAA	ENST00000540163.1	+	5	1184_1187	c.542_545delTCAA	c.(541-546)ttcaatfs	p.FN181fs	RBM7_ENST00000544582.1_Intron|RBM7_ENST00000375490.5_Frame_Shift_Del_p.FN182fs|RBM7_ENST00000541475.1_3'UTR|RBM7_ENST00000545678.1_Frame_Shift_Del_p.FN61fs|RP11-212D19.4_ENST00000544347.1_Intron			Q9Y580	RBM7_HUMAN	RNA binding motif protein 7	181					meiotic nuclear division (GO:0007126)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)		AGTCATAGTTTCAATCAGTCTTCA	0.422																																						ENST00000540163.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(541-546)ttfs		RNA binding motif protein 7																																				SO:0001589	frameshift_variant	10179				meiosis		nucleotide binding|protein binding|RNA binding	g.chr11:114278270_114278273delTCAA	AF156098	CCDS8370.1, CCDS66233.1, CCDS73395.1	11q23.1-q23.2	2013-02-12			ENSG00000076053	ENSG00000076053		"""RNA binding motif (RRM) containing"""	9904	protein-coding gene	gene with protein product		612413				12477932	Standard	NM_001286045		Approved		uc001pov.3	Q9Y580		ENST00000540163.1:c.542_545delTCAA	11.37:g.114278270_114278273delTCAA	ENSP00000439918:p.Phe181fs					RP11-212D19.4_ENST00000544347.1_Intron|RBM7_ENST00000375490.5_Frame_Shift_Del_p.FN182fs|RBM7_ENST00000541475.1_3'UTR|RBM7_ENST00000545678.1_Frame_Shift_Del_p.FN61fs|RBM7_ENST00000544582.1_Intron	p.FN181fs			Q9Y580	RBM7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)	5	1184_1187	+		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)	181					B2R6K8|Q9NUT4	Frame_Shift_Del	DEL	ENST00000540163.1	37	c.542_545delTCAA	CCDS8370.1																																																																																				0.422	RBM7-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399010.1	NM_016090		12	201						12	201	---	---	---	---
CIT	11113	broad.mit.edu	37	12	120151451	120151455	+	Splice_Site	DEL	ATTCT	ATTCT	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr12:120151451_120151455delATTCT	ENST00000261833.7	-	33	4233_4235	c.4181_4183delAGAAT	c.(4180-4185)gagaat>gat	p.EN1394fs	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Splice_Site_p.EN1436fs|MIR1178_ENST00000408396.1_RNA	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1394					cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		ATCACCTGACATTCTAGGGAAGAAC	0.61																																						ENST00000392521.2																			0				breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86						c.e34-1		citron (rho-interacting, serine/threonine kinase 21)																																				SO:0001630	splice_region_variant	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120151451_120151455delATTCT	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.4181-1AGAAT>-	12.37:g.120151451_120151455delATTCT						MIR1178_ENST00000408396.1_RNA|CIT_ENST00000261833.7_Splice_Site_p.D1394_splice|CIT_ENST00000537607.1_5'UTR	p.D1436_splice	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	34	4362_4364	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	1394					Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Splice_Site	DEL	ENST00000261833.7	37	c.4306_splice	CCDS9192.1																																																																																				0.610	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174	Frame_Shift_Del	9	99						9	99	---	---	---	---
LRCOL1	100507055	broad.mit.edu	37	12	133182784	133182786	+	lincRNA	DEL	CAG	CAG	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr12:133182784_133182786delCAG	ENST00000545517.1	-	0	64_66							A6NCL2	LRCL1_HUMAN	leucine rich colipase-like 1						digestion (GO:0007586)|lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	enzyme activator activity (GO:0008047)										CCATGGACCCcagcagcagcagc	0.65																																						ENST00000545517.1																			0													leucine rich colipase-like 1																																						100507055							g.chr12:133182784_133182786delCAG		CCDS73547.1	12q24.33	2012-07-02			ENSG00000204583	ENSG00000204583			44160	protein-coding gene	gene with protein product							Standard	NM_001195520		Approved		uc021rgr.1	A6NCL2	OTTHUMG00000168043		12.37:g.133182793_133182795delCAG														0	64_66	-								H9BFB1	RNA	DEL	ENST00000545517.1	37																																																																																						0.650	LRCOL1-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000397683.1	NM_001195520		3	6						3	6	---	---	---	---
METTL3	56339	broad.mit.edu	37	14	21971404	21971406	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr14:21971404_21971406delTTC	ENST00000298717.4	-	3	784_786	c.633_635delGAA	c.(631-636)aagaaa>aaa	p.211_212KK>K	METTL3_ENST00000538267.1_In_Frame_Del_p.R140del	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	211					circadian rhythm (GO:0007623)|gene expression (GO:0010467)|mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|RNA methylation (GO:0001510)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		TTTCCTTGATTTCTTGGCTGGCT	0.502																																						ENST00000298717.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20						c.(631-636)aaa>aa		methyltransferase like 3																																				SO:0001651	inframe_deletion	56339				gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding	g.chr14:21971404_21971406delTTC	AF014837	CCDS32044.1	14q11.1	2012-06-12			ENSG00000165819	ENSG00000165819	2.1.1.62		17563	protein-coding gene	gene with protein product	"""N6-adenosine-methyltransferase 70 kDa subunit"""	612472					Standard	XM_006720206		Approved	Spo8, M6A, MT-A70	uc001wbc.3	Q86U44	OTTHUMG00000168825	ENST00000298717.4:c.633_635delGAA	14.37:g.21971404_21971406delTTC	ENSP00000298717:p.Lys212del					METTL3_ENST00000538267.1_In_Frame_Del_p.RN140del	p.KK211del	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)	3	784_786	-	all_cancers(95;0.000628)		211					O14736|Q86V05|Q9HB32	In_Frame_Del	DEL	ENST00000298717.4	37	c.633_635delGAA	CCDS32044.1																																																																																				0.502	METTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401227.1	NM_019852		34	229						34	229	---	---	---	---
GALC	2581	broad.mit.edu	37	14	88406276	88406276	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr14:88406276delT	ENST00000261304.2	-	16	1990	c.1884delA	c.(1882-1884)aaafs	p.K628fs	GALC_ENST00000544807.2_Frame_Shift_Del_p.K572fs|GALC_ENST00000393568.4_Frame_Shift_Del_p.K605fs|GALC_ENST00000393569.2_Frame_Shift_Del_p.K602fs	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	628					carbohydrate metabolic process (GO:0005975)|galactosylceramide catabolic process (GO:0006683)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	galactosylceramidase activity (GO:0004336)			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GTGTATACCATTTTTTTGCTG	0.308																																						ENST00000261304.2																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1882-1884)aafs		galactosylceramidase							160.0	154.0	156.0					14																	88406276		1860	4117	5977	SO:0001589	frameshift_variant	2581				carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity	g.chr14:88406276delT	L23116	CCDS9878.2, CCDS55936.1, CCDS55937.1	14q31	2009-01-06	2005-11-29		ENSG00000054983	ENSG00000054983	3.2.1.46		4115	protein-coding gene	gene with protein product	"""Krabbe disease"""	606890	"""galactosylceramidase (Krabbe disease)"""				Standard	NM_000153		Approved		uc001xvt.3	P54803	OTTHUMG00000028646	ENST00000261304.2:c.1884delA	14.37:g.88406276delT	ENSP00000261304:p.Lys628fs					GALC_ENST00000544807.2_Frame_Shift_Del_p.K572fs|GALC_ENST00000393569.2_Frame_Shift_Del_p.K602fs|GALC_ENST00000393568.4_Frame_Shift_Del_p.K605fs	p.K628fs	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN			16	1990	-			628					B4DKE8|B4DYN1|B4DZJ8|B7Z7Z2|J3KN25|J3KPP8|Q8J030	Frame_Shift_Del	DEL	ENST00000261304.2	37	c.1884delA	CCDS9878.2																																																																																				0.308	GALC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071559.2			7	185						7	185	---	---	---	---
PAQR5	54852	broad.mit.edu	37	15	69589411	69589411	+	5'Flank	DEL	C	C	-	rs56210952	byFrequency	TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr15:69589411delC	ENST00000395407.2	+	0	0				RP11-352D13.6_ENST00000563004.1_RNA	NM_017705.3	NP_060175.3	Q9NXK6	MPRG_HUMAN	progestin and adipoQ receptor family member V						multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)|steroid binding (GO:0005496)			endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1)	11						GGTCTAAGTACCCCCCTCCCC	0.537																																						ENST00000563004.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr15:69589411delC		CCDS10232.1	15q22.31	2012-08-10			ENSG00000137819	ENSG00000137819			29645	protein-coding gene	gene with protein product	"""membrane progestin receptor gamma"""	607781				12574519	Standard	NM_001104554		Approved	FLJ20190, MPRG	uc002arz.2	Q9NXK6	OTTHUMG00000133322		15.37:g.69589411delC	Exception_encountered													0	281	-								Q8IXU2	RNA	DEL	ENST00000395407.2	37		CCDS10232.1																																																																																				0.537	PAQR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257126.3	NM_017705		2	4						2	4	---	---	---	---
CLUH	23277	broad.mit.edu	37	17	2601759	2601761	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr17:2601759_2601761delGAA	ENST00000570628.2	-	10	1381_1383	c.1276_1278delTTC	c.(1276-1278)ttcdel	p.F426del	CLUH_ENST00000435359.1_In_Frame_Del_p.F426del|CLUH_ENST00000538975.1_In_Frame_Del_p.F426del			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	426					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)											AGCCCAGGCTGAAGAAGATGTTG	0.611																																						ENST00000570628.1																			0											c.(1276-1278)del		clustered mitochondria (cluA/CLU1) homolog																																				SO:0001651	inframe_deletion	23277							g.chr17:2601759_2601761delGAA	AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"""KIAA0664"""	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.1276_1278delTTC	17.37:g.2601762_2601764delGAA	ENSP00000458986:p.Phe426del					CLUH_ENST00000575014.1_In_Frame_Del_p.F358del|CLUH_ENST00000538975.1_In_Frame_Del_p.F426del|CLUH_ENST00000435359.1_In_Frame_Del_p.F426del	p.F426del							10	1381_1383	-								Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	In_Frame_Del	DEL	ENST00000570628.2	37	c.1276_1278delTTC	CCDS45572.1																																																																																				0.611	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437807.2	NM_015229		11	48						11	48	---	---	---	---
IFI35	3430	broad.mit.edu	37	17	41168124	41168126	+	IGR	DEL	TTC	TTC	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr17:41168124_41168126delTTC	ENST00000415816.2	+	0	1241				VAT1_ENST00000587173.1_In_Frame_Del_p.K310del|VAT1_ENST00000420567.3_In_Frame_Del_p.K244del|VAT1_ENST00000355653.3_In_Frame_Del_p.K378del	NM_005533.4	NP_005524.2	P80217	IN35_HUMAN	interferon-induced protein 35						cytokine-mediated signaling pathway (GO:0019221)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.157)		CTTGCCCACATTCTTCTTCTCCT	0.557																																						ENST00000355653.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9						c.(1132-1137)aat>aa		vesicle amine transport 1				3,4261		1,1,2130						-1.0	1.0			348	4,8250		2,0,4125	no	coding	VAT1	NM_006373.3		3,1,6255	A1A1,A1R,RR		0.0485,0.0704,0.0559				7,12511				SO:0001628	intergenic_variant	10493					cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding	g.chr17:41168124_41168126delTTC	BC001356	CCDS11450.1	17q21	2006-04-05			ENSG00000068079	ENSG00000068079			5399	protein-coding gene	gene with protein product		600735					Standard	NM_005533		Approved	IFP35	uc021txx.1	P80217	OTTHUMG00000167720		17.37:g.41168130_41168132delTTC						VAT1_ENST00000587173.1_In_Frame_Del_p.KN310del|VAT1_ENST00000420567.3_In_Frame_Del_p.KN244del	p.KN378del	NM_006373.3	NP_006364.2	Q99536	VAT1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	6	1229_1231	-		Breast(137;0.000717)	378					C9JGX1|Q92984|Q99537|Q9BV98	In_Frame_Del	DEL	ENST00000415816.2	37	c.1134_1136delGAA																																																																																					0.557	IFI35-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000395851.1	NM_005533		40	474						40	474	---	---	---	---
SRSF2	6427	broad.mit.edu	37	17	74732390	74732395	+	In_Frame_Del	DEL	GGACTT	GGACTT	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr17:74732390_74732395delGGACTT	ENST00000392485.2	-	2	686_691	c.514_519delAAGTCC	c.(514-519)aagtccdel	p.KS172del	MFSD11_ENST00000593181.1_5'Flank|RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000588460.1_5'UTR|MFSD11_ENST00000586622.1_5'UTR|MIR636_ENST00000384825.1_RNA|MFSD11_ENST00000591864.1_5'Flank|SRSF2_ENST00000508921.3_In_Frame_Del_p.KS160del|SRSF2_ENST00000359995.5_In_Frame_Del_p.KS172del|MFSD11_ENST00000336509.4_5'Flank|MFSD11_ENST00000355954.3_5'Flank|MFSD11_ENST00000590514.1_5'Flank|MFSD11_ENST00000590393.1_5'Flank	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	172	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA biosynthetic process (GO:2001141)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						AGACCGACGAGGACTTGGACTTGGAC	0.617			Mis		"""MDS, CLL"""																																	ENST00000392485.2				Dom	yes		17	17q25	6427	Mis	serine/arginine-rich splicing factor 2			L			"""MDS, CLL"""		0				haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						c.(514-519)del		serine/arginine-rich splicing factor 2																																				SO:0001651	inframe_deletion	6427				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding|transcription corepressor activity	g.chr17:74732390_74732395delGGACTT	M90104	CCDS11749.1	17q25.2	2014-09-17	2010-06-22	2010-06-22	ENSG00000161547	ENSG00000161547		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10783	protein-coding gene	gene with protein product	"""SR splicing factor 2"""	600813	"""splicing factor, arginine/serine-rich 2"""	SFRS2		8530103, 20516191	Standard	NM_003016		Approved	SC-35, SC35, PR264, SFRS2A	uc002jsv.3	Q01130		ENST00000392485.2:c.514_519delAAGTCC	17.37:g.74732396_74732401delGGACTT	ENSP00000376276:p.Lys172_Ser173del					MFSD11_ENST00000586622.1_5'UTR|SRSF2_ENST00000508921.3_In_Frame_Del_p.KS160del|SRSF2_ENST00000359995.5_In_Frame_Del_p.KS172del|MFSD11_ENST00000588460.1_5'UTR|RP11-318A15.7_ENST00000587459.1_Intron	p.KS172del	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN			2	686_691	-			172			Arg/Ser-rich (RS domain).		B3KWD5|B4DN89|H0YG49	In_Frame_Del	DEL	ENST00000392485.2	37	c.514_519delAAGTCC	CCDS11749.1																																																																																				0.617	SRSF2-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437489.1	NM_003016		17	104						17	104	---	---	---	---
ALPK2	115701	broad.mit.edu	37	18	56171248	56171252	+	Frame_Shift_Del	DEL	TTCTC	TTCTC	-	rs530898856		TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr18:56171248_56171252delTTCTC	ENST00000361673.3	-	11	6371_6375	c.6158_6162delGAGAA	c.(6157-6162)agagaafs	p.RE2053fs		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	2053	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CAGCTTCTGATTCTCTTCTCAAGAA	0.473																																						ENST00000361673.3																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(6157-6162)afs		alpha-kinase 2																																				SO:0001589	frameshift_variant	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56171248_56171252delTTCTC	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.6158_6162delGAGAA	18.37:g.56171253_56171257delTTCTC	ENSP00000354991:p.Arg2053fs						p.RE2053fs	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN			11	6371_6375	-			2053			Alpha-type protein kinase.		Q6ZUX0|Q8NAT5|Q96L95	Frame_Shift_Del	DEL	ENST00000361673.3	37	c.6158_6162delGAGAA	CCDS11966.2																																																																																				0.473	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		7	207						7	207	---	---	---	---
BRD4	23476	broad.mit.edu	37	19	15349706	15349708	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr19:15349706_15349708delGCT	ENST00000263377.2	-	19	4087_4089	c.3866_3868delAGC	c.(3865-3870)cagcgc>cgc	p.Q1289del	AC004257.3_ENST00000602793.1_lincRNA	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1289	C-terminal (CTD) region.|Poly-Gln.				cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			tgctcctggcgctgctgctgctg	0.709			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000263377.2				Dom	yes		19	19p13.1	23476	T	bromodomain containing 4			E	C15orf55		lethal midline carcinoma of young people		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21						c.(3865-3870)cgc>c		bromodomain containing 4				65,3995		3,59,1968						-7.0	0.0			9	158,7724		6,146,3789	no	coding	BRD4	NM_058243.2		9,205,5757	A1A1,A1R,RR		2.0046,1.601,1.8674				223,11719				SO:0001651	inframe_deletion	23476				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding	g.chr19:15349706_15349708delGCT	Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"""chromosome-associated protein"""	608749	"""bromodomain-containing 4"""			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.3866_3868delAGC	19.37:g.15349715_15349717delGCT	ENSP00000263377:p.Gln1289del						p.QR1289del	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		19	4087_4089	-			1289			Poly-Gln.		O60433|Q4G0X8|Q86YS8|Q96PD3	In_Frame_Del	DEL	ENST00000263377.2	37	c.3866_3868delAGC	CCDS12328.1																																																																																				0.709	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243		3	4						3	4	---	---	---	---
CIC	23152	broad.mit.edu	37	19	42798099	42798100	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr19:42798099_42798100delAG	ENST00000575354.2	+	17	4093_4094	c.4053_4054delAG	c.(4051-4056)tcagaafs	p.E1352fs	CIC_ENST00000160740.3_Frame_Shift_Del_p.E1350fs|CIC_ENST00000572681.2_Frame_Shift_Del_p.E2258fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1352					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)				GGGTCCTGTCAGAAGTGGACTT	0.678			"""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.(6769-6774)tcaafs		capicua transcriptional repressor																																				SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42798099_42798100delAG	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.4053_4054delAG	19.37:g.42798099_42798100delAG	ENSP00000458663:p.Glu1352fs					CIC_ENST00000160740.3_Frame_Shift_Del_p.SE1349fs|CIC_ENST00000575354.2_Frame_Shift_Del_p.SE1351fs	p.SE2257fs			Q96RK0	CIC_HUMAN			18	6839_6840	+		Prostate(69;0.00682)	1351					Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Del	DEL	ENST00000575354.2	37	c.6771_6772delAG	CCDS12601.1																																																																																				0.678	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			64	73						64	73	---	---	---	---
NKX2-2	4821	broad.mit.edu	37	20	21492574	21492574	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr20:21492574delT	ENST00000377142.4	-	2	1165	c.809delA	c.(808-810)cagfs	p.Q270fs	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	270					astrocyte differentiation (GO:0048708)|brain development (GO:0007420)|digestive tract development (GO:0048565)|endocrine pancreas development (GO:0031018)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|oligodendrocyte development (GO:0014003)|optic nerve development (GO:0021554)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell fate commitment (GO:0003327)|ventral spinal cord interneuron fate determination (GO:0060580)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|core promoter proximal region DNA binding (GO:0001159)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CCAAGTCCACTGCTGGGCCTG	0.706																																						ENST00000377142.4																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(808-810)cgfs		NK2 homeobox 2							24.0	28.0	27.0					20																	21492574		2131	4213	6344	SO:0001589	frameshift_variant	4821				brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity	g.chr20:21492574delT	AF019415	CCDS13145.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125820	ENSG00000125820		"""Homeoboxes / ANTP class : NKL subclass"""	7835	protein-coding gene	gene with protein product		604612	"""NK-2 (Drosophila) homolog B"", ""NK2 transcription factor related, locus 2 (Drosophila)"""	NKX2B		9703340, 1346742	Standard	NM_002509		Approved	NKX2.2	uc002wsi.3	O95096	OTTHUMG00000170524	ENST00000377142.4:c.809delA	20.37:g.21492574delT	ENSP00000366347:p.Gln270fs					NKX2-2-AS1_ENST00000549659.1_RNA	p.Q270fs	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN			2	1165	-			270						Frame_Shift_Del	DEL	ENST00000377142.4	37	c.809delA	CCDS13145.1																																																																																				0.706	NKX2-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078278.9			34	37						34	37	---	---	---	---
RGS19	10287	broad.mit.edu	37	20	62705360	62705362	+	In_Frame_Del	DEL	TTG	TTG	-	rs367950896		TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr20:62705360_62705362delTTG	ENST00000395042.1	-	6	764_766	c.498_500delCAA	c.(496-501)aacaag>aag	p.N166del	RGS19_ENST00000493165.1_5'Flank|RGS19_ENST00000332298.5_In_Frame_Del_p.N166del	NM_005873.2	NP_005864.1	P49795	RGS19_HUMAN	regulator of G-protein signaling 19	166	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				autophagy (GO:0006914)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	brush border (GO:0005903)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			lung(1)|prostate(1)|skin(1)	3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					CTGCATCTTCTTGTTGATGCCCT	0.64																																						ENST00000395042.1																			0				lung(1)|prostate(1)|skin(1)	3						c.(496-501)aag>aa		regulator of G-protein signaling 19																																				SO:0001651	inframe_deletion	10287				autophagy|G-protein coupled receptor protein signaling pathway|negative regulation of signal transduction|small GTPase mediated signal transduction	Golgi apparatus|membrane fraction|plasma membrane	GTPase activator activity|protein binding|signal transducer activity	g.chr20:62705360_62705362delTTG	X91809	CCDS13555.1	20q13.33	2007-08-14	2007-08-14		ENSG00000171700	ENSG00000171700		"""Regulators of G-protein signaling"""	13735	protein-coding gene	gene with protein product		605071	"""regulator of G-protein signalling 19"""			8524874	Standard	XM_005260183		Approved	GAIP, RGSGAIP	uc002yib.3	P49795	OTTHUMG00000033024	ENST00000395042.1:c.498_500delCAA	20.37:g.62705363_62705365delTTG	ENSP00000378483:p.Asn166del					RGS19_ENST00000332298.5_In_Frame_Del_p.NK166del	p.NK166del	NM_005873.2	NP_005864.1	P49795	RGS19_HUMAN			6	764_766	-	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)		166			RGS.		A8K216|E1P5G9|Q53XN0|Q8TD60	In_Frame_Del	DEL	ENST00000395042.1	37	c.498_500delCAA	CCDS13555.1																																																																																				0.640	RGS19-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080273.1	NM_005873		7	115						7	115	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11085531	11085533	+	RNA	DEL	AAA	AAA	-	rs376459584		TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr21:11085531_11085533delAAA	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		caccaccactaaaaccacgacca	0.596																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11085531_11085533delAAA	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11085531_11085533delAAA												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.596	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		3	4						3	4	---	---	---	---
CNKSR2	22866	broad.mit.edu	37	X	21627678	21627680	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chrX:21627678_21627680delGAG	ENST00000379510.3	+	20	2671_2673	c.2635_2637delGAG	c.(2635-2637)gagdel	p.E886del	CNKSR2_ENST00000543067.1_In_Frame_Del_p.E837del|CNKSR2_ENST00000425654.2_In_Frame_Del_p.E856del|CNKSR2_ENST00000279451.4_In_Frame_Del_p.E886del	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	886	Poly-Glu.				regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						ggtggaggaagaggaggaggagg	0.517																																						ENST00000425654.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						c.(2545-2547)del		connector enhancer of kinase suppressor of Ras 2																																				SO:0001651	inframe_deletion	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21627678_21627680delGAG	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.2635_2637delGAG	X.37:g.21627687_21627689delGAG	ENSP00000368824:p.Glu886del					CNKSR2_ENST00000279451.4_In_Frame_Del_p.E886del|CNKSR2_ENST00000379510.3_In_Frame_Del_p.E886del|CNKSR2_ENST00000543067.1_In_Frame_Del_p.E837del	p.E856del	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN			19	3025_3027	+			886					B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	In_Frame_Del	DEL	ENST00000379510.3	37	c.2545_2547delGAG	CCDS14198.1																																																																																				0.517	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		7	73						7	73	---	---	---	---
BCOR	54880	broad.mit.edu	37	X	39932365	39932366	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chrX:39932365_39932366delCT	ENST00000378444.4	-	4	2461_2462	c.2233_2234delAG	c.(2233-2235)aggfs	p.R746fs	BCOR_ENST00000342274.4_Frame_Shift_Del_p.R746fs|BCOR_ENST00000397354.3_Frame_Shift_Del_p.R746fs|BCOR_ENST00000378455.4_Frame_Shift_Del_p.R746fs	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	746					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CCGGGATCTCCTCTCTGGTTTC	0.515			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															ENST00000342274.4				Rec	yes		X	Xp11.4	54880	"""F, N, S, T"""	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"""retinoblastoma, AML, APL(translocation)"""		0				breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						c.(2233-2235)gfs		BCL6 corepressor																																				SO:0001589	frameshift_variant	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39932365_39932366delCT	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.2233_2234delAG	X.37:g.39932369_39932370delCT	ENSP00000367705:p.Arg746fs					BCOR_ENST00000378455.4_Frame_Shift_Del_p.R746fs|BCOR_ENST00000397354.3_Frame_Shift_Del_p.R746fs|BCOR_ENST00000378444.4_Frame_Shift_Del_p.R746fs	p.R746fs	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN			4	2595_2596	-			746					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Frame_Shift_Del	DEL	ENST00000378444.4	37	c.2233_2234delAG	CCDS48093.1																																																																																				0.515	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		53	132						53	132	---	---	---	---
