#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_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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	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_Description	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_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_AccessionNumbers	i_HGNC_CCDS IDs	i_HGNC_CCDSIDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_DateModified	i_HGNC_DateNameChanged	i_HGNC_DateSymbolChanged	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_EnsemblGeneID	i_HGNC_EnsemblIDsuppliedbyEnsembl	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_Genefamilydescription	i_HGNC_HGNC ID	i_HGNC_HGNCID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_LocusGroup	i_HGNC_LocusType	i_HGNC_Name Synonyms	i_HGNC_NameSynonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_OMIMIDsuppliedbyNCBI	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_PreviousNames	i_HGNC_PreviousSymbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_PubmedIDs	i_HGNC_Record Type	i_HGNC_RecordType	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_RefSeqsuppliedbyNCBI	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UCSCIDsuppliedbyUCSC	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_UniProtIDsuppliedbyUniProt	i_HGNC_VEGA IDs	i_HGNC_VEGAIDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	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_Region	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_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_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_hg18_pos1coor	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_init_n_lod	i_init_t_lod	i_n_alt_count	i_n_alt_count_full	i_n_ref_count	i_n_ref_count_full	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_lod_fstar	i_t_lod_fstar_full	i_t_ref_count_full	i_tumor_f_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	tumor_f
LCP1	3936	broad.mit.edu	37	13	46701814	46701814	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	g.chr13:46701814G>A	ENST00000398576.2	-	19	2184	c.1796C>T	c.(1795-1797)gCc>gTc	p.A599V	LCP1_ENST00000323076.2_Missense_Mutation_p.A599V|LCP1_ENST00000435666.2_Missense_Mutation_p.A168V			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	599	Actin-binding 2.|CH 4. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TTCTGGCAGGGCATACACTCT	0.488			T	BCL6	NHL																																	ENST00000398576.2		Dom	yes		13	13q14.1-q14.3	3936	lymphocyte cytosolic protein 1 (L-plastin)		L	0			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34						c.(1795-1797)gCc>gTc	lymphocyte cytosolic protein 1 (L-plastin)						194.0	180.0	185.0					13																	46701814		2203	4300	6503	SO:0001583	missense	3936			regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding	g.chr13:46701814G>A	M22300	M22300	CCDS9403.1	CCDS9403.1	13q14.3	2013-01-10			2013-01-10			ENSG00000136167	ENSG00000136167	ENSG00000136167	ENSG00000136167		"""EF-hand domain containing"""	"""EF-hand domain containing"""	6528	6528	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""plastin 2"""	"""plastin 2"""	153430	153430						2111166	2111166	Standard	Standard	NM_002298	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	uc001vba.4	P13796	P13796	OTTHUMG00000016864	OTTHUMG00000016864	ENST00000398576.2:c.1796C>T	13.37:g.46701814G>A	ENSP00000381581:p.Ala599Val		LCP1_ENST00000323076.2_Missense_Mutation_p.A599V|LCP1_ENST00000435666.2_Missense_Mutation_p.A168V	p.A599V			P13796	PLSL_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)	19	2184	-		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	599	Actin-binding 2.|CH 4.	B2R613|B4DUA0|Q5TBN4	Missense_Mutation	SNP	ENST00000398576.2	37	c.1796C>T	CCDS9403.1	.	.	.	.	.	.	.	.	.	.	G	35	5.569044	0.96540	.	.	ENSG00000136167	ENST00000323076;ENST00000398576;ENST00000435666	D;D;D	0.95069	-3.6;-3.6;-3.6	5.72	5.72	0.89469	5.72	5.72	0.89469	Calponin homology domain (5);	0.044394	0.85682	D	0.000000	D	0.96324	0.8801	M	0.72624	2.21	0.80722	D	1	P;D	0.89917	0.942;1.0	P;D	0.91635	0.859;0.999	D	0.92803	0.6258	10	0.02654	T	1	-16.4361	19.2318	0.93843	0.0:0.0:1.0:0.0	.	168;599	B4DUA0;P13796	.;PLSL_HUMAN	V	599;599;168	ENSP00000315757:A599V;ENSP00000381581:A599V;ENSP00000405134:A168V	ENSP00000315757:A599V	A	-	2	0	0	LCP1	45599815	45599815	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.813000	0.99286	2.865000	0.98341	0.655000	0.94253	GCC		0.488	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3		-32.542074	-45	-45	108	108	NM_002298		4	7.205633	7.205633	155	0.025157	0	0	0	1	0	4	155	0.025157
OR7D4	125958	broad.mit.edu	37	19	9325198	9325198	+	Missense_Mutation	SNP	T	T	C			TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	g.chr19:9325198T>C	ENST00000308682.2	-	1	344	c.316A>G	c.(316-318)Atg>Gtg	p.M106V		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	106						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						CCAGCAAACATCATTAAAAAA	0.512																																						ENST00000308682.2											0			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						c.(316-318)Atg>Gtg	olfactory receptor, family 7, subfamily D, member 4						87.0	79.0	81.0					19																	9325198		2203	4300	6503	SO:0001583	missense	125958			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9325198T>C			CCDS32901.1	CCDS32901.1	19p13.2	2013-12-17		2004-03-10	2013-12-17		2004-03-10	ENSG00000174667	ENSG00000174667	ENSG00000174667	ENSG00000174667		"""GPCR / Class A : Olfactory receptors"""	"""GPCR / Class A : Olfactory receptors"""	8380	8380	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611538	611538		OR7D4P		OR7D4P				Standard	Standard	NM_001005191	NM_001005191		Approved	hg105, OR19-B	uc002mla.2	uc002mla.2	Q8NG98	Q8NG98	OTTHUMG00000179936	OTTHUMG00000179936	ENST00000308682.2:c.316A>G	19.37:g.9325198T>C	ENSP00000310488:p.Met106Val			p.M106V	NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN			1	344	-			106		A8CAH8|A8CAH9|A8CAI0|A8CAI1|B9EH79	Missense_Mutation	SNP	ENST00000308682.2	37	c.316A>G	CCDS32901.1	.	.	.	.	.	.	.	.	.	.	T	0.491	-0.875508	0.02550	.	.	ENSG00000174667	ENST00000308682	T	0.03663	3.85	3.76	0.0796	0.14417	3.76	0.0796	0.14417	GPCR, rhodopsin-like superfamily (1);	0.891435	0.09666	N	0.771873	T	0.01254	0.0041	N	0.00980	-1.08	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47837	-0.9086	10	0.27785	T	0.31	.	3.9777	0.09481	0.5253:0.111:0.0:0.3636	.	106	Q8NG98	OR7D4_HUMAN	V	106	ENSP00000310488:M106V	ENSP00000310488:M106V	M	-	1	0	0	OR7D4	9186198	9186198	0.000000	0.05858	0.001000	0.08648	0.443000	0.32047	-1.968000	0.01507	0.161000	0.19458	0.358000	0.22013	ATG		0.512	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449004.1		93.538635	-14	-14	67	67			30	94.043634	94.043634	43	0.410959	0	0	0	1	0	30	43	0.410959
COL27A1	85301	broad.mit.edu	37	9	117027754	117027754	+	Splice_Site	SNP	C	C	A			TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	g.chr9:117027754C>A	ENST00000356083.3	+	32	3783	c.3392C>A	c.(3391-3393)cCg>cAg	p.P1131Q		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1131	Collagen-like 9.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CCAGGAGAACCGGTAAGAGCC	0.612																																						ENST00000356083.3											0			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.(3391-3393)cCg>cAg	collagen, type XXVII, alpha 1						59.0	54.0	55.0					9																	117027754		2203	4300	6503	SO:0001630	splice_region_variant	85301			cell adhesion		extracellular matrix structural constituent	g.chr9:117027754C>A	AB058773	AB058773	CCDS6802.1	CCDS6802.1	9q33.1	2013-01-16			2013-01-16			ENSG00000196739	ENSG00000196739	ENSG00000196739	ENSG00000196739		"""Collagens"""	"""Collagens"""	22986	22986	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608461	608461						12766169	12766169	Standard	Standard	NM_032888	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	uc011lxl.2	Q8IZC6	Q8IZC6	OTTHUMG00000020537	OTTHUMG00000020537	ENST00000356083.3:c.3393+1C>A	9.37:g.117027754C>A				p.P1131Q	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN			32	3783	+			1131	Collagen-like 9.|Pro-rich.|Triple-helical region.	Q66K43|Q96JF7	Splice_Site	SNP	ENST00000356083.3	37	c.3392C>A	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	C	15.93	2.978473	0.53720	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.96716	-4.1	5.25	4.35	0.52113	5.25	4.35	0.52113	.	.	.	.	.	D	0.95934	0.8676	L	0.39566	1.225	0.51767	D	0.999937	D	0.69078	0.997	D	0.68943	0.961	D	0.93803	0.7103	9	0.27082	T	0.32	.	9.4823	0.38908	0.0:0.9031:0.0:0.0969	.	1131	Q8IZC6	CORA1_HUMAN	Q	1131	ENSP00000348385:P1131Q	ENSP00000348385:P1131Q	P	+	2	0	0	COL27A1	116067575	116067575	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	2.442000	0.44873	1.221000	0.43506	0.591000	0.81541	CCG		0.612	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1		-4.216809	1	1	38	38	NM_032888	Missense_Mutation	3	6.727252	6.727252	50	0.056604	1	0	1	1	1	3	50	0.056604
NUP62	23636	broad.mit.edu	37	19	50412426	50412426	+	Silent	SNP	G	G	C			TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	g.chr19:50412426G>C	ENST00000596217.1	-	2	2526	c.639C>G	c.(637-639)acC>acG	p.T213T	NUP62_ENST00000352066.3_Silent_p.T213T|NUP62_ENST00000600583.1_5'Flank|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000413454.1_Silent_p.T213T|NUP62_ENST00000597029.1_Silent_p.T213T|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000422090.2_Silent_p.T213T|NUP62_ENST00000597723.1_Silent_p.T213T			P37198	NUP62_HUMAN	nucleoporin 62kDa	213	15 X 9 AA approximate repeats.|Ala-rich.|Thr-rich.				carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|hormone-mediated signaling pathway (GO:0009755)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of programmed cell death (GO:0043069)|negative regulation of Ras protein signal transduction (GO:0046580)|nucleocytoplasmic transport (GO:0006913)|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 transcription, DNA-templated (GO:0045893)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of Ras protein signal transduction (GO:0046578)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleocytoplasmic shuttling complex (GO:0031074)|pore complex (GO:0046930)|ribonucleoprotein complex (GO:0030529)	chromatin binding (GO:0003682)|receptor signaling complex scaffold activity (GO:0030159)|SH2 domain binding (GO:0042169)|structural constituent of nuclear pore (GO:0017056)|thyroid hormone receptor binding (GO:0046966)|ubiquitin binding (GO:0043130)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TGCTGGTGATGGTGGCTGTGG	0.647																																						ENST00000596217.1											0			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19						c.(637-639)acC>acG	nucleoporin 62kDa						81.0	77.0	78.0					19																	50412426		2203	4300	6503	SO:0001819	synonymous_variant	23636			carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding	g.chr19:50412426G>C	X58521	X58521	CCDS12788.1	CCDS12788.1	19q13.33	2013-09-20	2002-08-29		2013-09-20	2002-08-29		ENSG00000213024	ENSG00000213024	ENSG00000213024	ENSG00000213024				8066	8066	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""nuclear pore glycoprotein p62"""	"""nuclear pore glycoprotein p62"""	605815	605815	"""nucleoporin 62kD"""		"""nucleoporin 62kD"""			1915414	1915414	Standard	Standard	NM_016553	NM_016553		Approved	p62, DKFZp547L134, IBSN, SNDI, MGC841, FLJ20822, FLJ43869	uc002pqx.3	uc002pqx.3	P37198	P37198	OTTHUMG00000183077	OTTHUMG00000183077	ENST00000596217.1:c.639C>G	19.37:g.50412426G>C			NUP62_ENST00000413454.1_Silent_p.T213T|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000422090.2_Silent_p.T213T|NUP62_ENST00000597723.1_Silent_p.T213T|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000597029.1_Silent_p.T213T|NUP62_ENST00000352066.3_Silent_p.T213T	p.T213T			P37198	NUP62_HUMAN		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	2	2526	-		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)	213	15 X 9 AA approximate repeats.|Ala-rich.|Thr-rich.	B3KWU5|Q503A4|Q6GTM2|Q96C43|Q9NSL1	Silent	SNP	ENST00000596217.1	37	c.639C>G	CCDS12788.1																																																																																									0.647	NUP62-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464991.1		171.500157	-33	-33	60	60	NM_153719		56	171.6012	171.601200	49	0.533333	0	0	0	1	0	56	49	0.533333
DCANP1	140947	broad.mit.edu	37	5	134782379	134782379	+	Silent	SNP	C	C	T	rs372976487	byFrequency	TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	g.chr5:134782379C>T	ENST00000503143.2	-	1	659	c.420G>A	c.(418-420)ccG>ccA	p.P140P	TIFAB_ENST00000537858.1_3'UTR	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN		140						nucleus (GO:0005634)		p.P140P(1)		endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GAACTGTGAACGGGTAGAGTC	0.517													C|||	2	0.000399361	0.0	0.0	5008	,	,		20123	0.0		0.0	False		,,,				2504	0.002					ENST00000503143.2											1	Substitution - coding silent(1)	endometrium(1)	endometrium(1)|lung(1)|prostate(1)	3						c.(418-420)ccG>ccA	chromosome 5 open reading frame 20	C		0,4406		0,0,2203	137.0	147.0	143.0		420	-3.9	0.0	5		143	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C5orf20	NM_130848.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		140/245	134782379	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	140947				nucleus		g.chr5:134782379C>T																																																	ENST00000503143.2:c.420G>A	5.37:g.134782379C>T			TIFAB_ENST00000537858.1_3'UTR	p.P140P	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		1	659	-			140			Silent	SNP	ENST00000503143.2	37	c.420G>A	CCDS4186.1																																																																																									0.517	C5orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372531.1		168.744188	-41	-41	102	102			57	170.194483	170.194483	88	0.393103	0	0	0	1	0	57	88	0.393103
STAM	8027	broad.mit.edu	37	10	17686366	17686366	+	Missense_Mutation	SNP	G	G	T			TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	g.chr10:17686366G>T	ENST00000377524.3	+	1	243	c.28G>T	c.(28-30)Gat>Tat	p.D10Y	STAM_ENST00000540523.1_5'UTR|RP11-390B4.5_ENST00000563601.1_RNA	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	10					endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						CAATCCCTTCGATCAGGATGT	0.617																																						ENST00000377524.3											0			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(28-30)Gat>Tat	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1						171.0	112.0	132.0					10																	17686366		2203	4300	6503	SO:0001583	missense	8027			cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity	g.chr10:17686366G>T	U43899	U43899	CCDS7122.1	CCDS7122.1	10p14-p13	2009-04-29			2009-04-29			ENSG00000136738	ENSG00000136738	ENSG00000136738	ENSG00000136738				11357	11357	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""HSE1 homolog (S. cerevisiae)"""	"""HSE1 homolog (S. cerevisiae)"""	601899	601899						8780729	8780729	Standard	Standard	NM_003473	NM_003473		Approved	STAM1	uc001ipj.2	uc001ipj.2	Q92783	Q92783	OTTHUMG00000017749	OTTHUMG00000017749	ENST00000377524.3:c.28G>T	10.37:g.17686366G>T	ENSP00000366746:p.Asp10Tyr		STAM_ENST00000540523.1_5'UTR	p.D10Y	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN			1	243	+			10		B0YJ99|D3DRU5|Q8N6D9	Missense_Mutation	SNP	ENST00000377524.3	37	c.28G>T	CCDS7122.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.240830	0.79912	.	.	ENSG00000136738	ENST00000377524	T	0.24350	1.86	4.63	4.63	0.57726	4.63	4.63	0.57726	VHS subgroup (1);ENTH/VHS (2);VHS (1);	0.156559	0.64402	D	0.000015	T	0.34221	0.0890	M	0.79805	2.47	0.80722	D	1	P	0.42039	0.769	B	0.40477	0.33	T	0.38200	-0.9672	10	0.87932	D	0	-6.4693	13.1725	0.59606	0.0:0.0:1.0:0.0	.	10	Q92783	STAM1_HUMAN	Y	10	ENSP00000366746:D10Y	ENSP00000366746:D10Y	D	+	1	0	0	STAM	17726372	17726372	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.420000	0.59841	2.564000	0.86499	0.591000	0.81541	GAT		0.617	STAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047039.1		2.802991	-7	-7	36	36	NM_003473		3	7.343813	7.343813	26	0.103448	1	0	1	1	1	3	26	0.103448
RERGL	79785	broad.mit.edu	37	12	18237495	18237495	+	Silent	SNP	C	C	T	rs371238120		TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	g.chr12:18237495C>T	ENST00000229002.2	-	5	497	c.291G>A	c.(289-291)gcG>gcA	p.A97A	RERGL_ENST00000536890.1_Splice_Site_p.R62H|RERGL_ENST00000541632.1_5'UTR|RERGL_ENST00000538724.1_Silent_p.A96A	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	97	Small GTPase-like.				GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						TGTAGATCAGCGCTTTTGCAA	0.383																																						ENST00000536890.1											0			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(184-186)cGc>cAc	RERG/RAS-like	T		0,4406		0,0,2203	142.0	139.0	140.0		291	2.5	1.0	12		140	2,8598	819.1+/-406.8	0,2,4298	no	coding-synonymous	RERGL	NM_024730.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		97/206	18237495	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	79785			signal transduction	membrane	GTP binding|GTPase activity	g.chr12:18237495C>T	AK026308	AK026308	CCDS8679.1, CCDS66332.1	CCDS8679.1, CCDS66332.1	12p12.3	2014-08-12			2014-08-12			ENSG00000111404	ENSG00000111404	ENSG00000111404	ENSG00000111404				26213	26213	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										24127187	24127187	Standard	Standard	NM_001286201	NM_001286201		Approved	FLJ22655	uc001rdq.3	uc001rdq.3	Q9H628	Q9H628	OTTHUMG00000168820	OTTHUMG00000168820	ENST00000229002.2:c.291G>A	12.37:g.18237495C>T			RERGL_ENST00000538724.1_Silent_p.A96A|RERGL_ENST00000229002.2_Silent_p.A97A|RERGL_ENST00000541632.1_5'UTR	p.R62H			Q9H628	RERGL_HUMAN			4	185	-			0	Small GTPase-like.		Splice_Site	SNP	ENST00000229002.2	37	c.185G>A	CCDS8679.1	.	.	.	.	.	.	.	.	.	.	T	9.276	1.046969	0.19748	0.0	2.33E-4	ENSG00000111404	ENST00000536890	D	0.96396	-4.0	4.91	2.5	0.30297	4.91	2.5	0.30297	.	.	.	.	.	D	0.93848	0.8032	.	.	.	0.23563	N	0.997403	.	.	.	.	.	.	D	0.88440	0.3041	6	0.87932	D	0	.	1.8515	0.03170	0.1179:0.1684:0.1685:0.5452	.	.	.	.	H	62	ENSP00000437490:R62H	ENSP00000437490:R62H	R	-	2	0	0	RERGL	18128762	18128762	0.998000	0.40836	0.999000	0.59377	0.189000	0.23516	0.502000	0.22594	0.494000	0.27859	-0.516000	0.04426	CGC		0.383	RERGL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401198.1		-19.734115	-26	-26	77	77	NM_024730		4	6.716314	6.716314	109	0.035398	0	0	0	1	0	4	109	0.035398
PSMB8	5696	broad.mit.edu	37	6	32809923	32809923	+	Silent	SNP	G	G	A			TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	g.chr6:32809923G>A	ENST00000374882.3	-	4	575	c.525C>T	c.(523-525)ggC>ggT	p.G175G	TAPSAR1_ENST00000453426.1_lincRNA|PSMB8_ENST00000395339.3_Silent_p.G151G|PSMB9_ENST00000395330.1_5'Flank|PSMB8_ENST00000374881.2_Silent_p.G171G	NM_148919.3	NP_683720.2	P28062	PSB8_HUMAN	proteasome (prosome, macropain) subunit, beta type, 8	175					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|fat cell differentiation (GO:0045444)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11					Carfilzomib(DB08889)	TCTTATCCCAGCCACAGATCA	0.522																																					NSCLC(48;53 1172 10859 13624 22883)	ENST00000374881.2											0			NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11						c.(511-513)ggC>ggT	proteasome (prosome, macropain) subunit, beta type, 8						137.0	117.0	124.0					6																	32809923		1511	2709	4220	SO:0001819	synonymous_variant	5696			anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|type I interferon-mediated signaling pathway|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity	g.chr6:32809923G>A			CCDS4756.1, CCDS4757.1	CCDS4756.1, CCDS4757.1	6p21.3	2013-03-27	2013-03-27		2013-03-27	2013-03-27		ENSG00000204264	ENSG00000204264	ENSG00000204264	ENSG00000204264		"""Proteasome (prosome, macropain) subunits"""	"""Proteasome (prosome, macropain) subunits"""	9545	9545	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			177046	177046	"""proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional protease 7)"", ""large multifunctional peptidase 7"""	LMP7	"""proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional protease 7)"", ""large multifunctional peptidase 7"""	LMP7		1529427, 10329130	1529427, 10329130	Standard	Standard	XM_005275000	XM_005275000		Approved	RING10, D6S216E, PSMB5i, beta5i	uc003oce.3	uc003oce.3	P28062	P28062	OTTHUMG00000031285	OTTHUMG00000031285	ENST00000374882.3:c.525C>T	6.37:g.32809923G>A			PSMB8_ENST00000374882.3_Silent_p.G175G|PSMB8_ENST00000395339.3_Silent_p.G151G	p.G171G	NM_004159.4	NP_004150.1	P28062	PSB8_HUMAN			4	802	-			175		B0UZC0|Q29824|Q5JNW6|Q5QNR8|Q96J48	Silent	SNP	ENST00000374882.3	37	c.513C>T	CCDS4757.1																																																																																									0.522	PSMB8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076617.3		-0.307338	-13	-13	33	33	NM_148919		3	6.840141	6.840141	36	0.076923	0	0	0	1	0	3	36	0.076923
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4		Dom	yes		9	9q21	2776	"""guanine nucleotide binding protein (G protein), q polypeptide"""		E	153	Substitution - Missense(153)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cCa	guanine nucleotide binding protein (G protein), q polypeptide						108.0	105.0	106.0					9																	80409488		2203	4300	6503	SO:0001583	missense	2776			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>G			CCDS6658.1	CCDS6658.1	9q21	2010-03-17			2010-03-17			ENSG00000156052	ENSG00000156052	ENSG00000156052	ENSG00000156052				4390	4390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600998	600998						8825633	8825633	Standard	Standard	NM_002072	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	uc004akw.3	P50148	P50148	OTTHUMG00000020059	OTTHUMG00000020059	ENST00000286548.4:c.626A>C	9.37:g.80409488T>G	ENSP00000286548:p.Gln209Pro		GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	p.Q209P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			5	848	-			209		O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>C	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614273	0.87359	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97164	0.9073	H	0.97291	3.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98607	1.0661	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	P	209;7	ENSP00000286548:Q209P;ENSP00000443197:Q7P	ENSP00000286548:Q209P	Q	-	2	0	0	GNAQ	79599308	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		119.390129	-31	-31	81	81	NM_002072		39	121.9015	121.901500	75	0.342105	0	0	0	1	0	39	75	0.342105
CENPE	1062	broad.mit.edu	37	4	104074328	104074328	+	Missense_Mutation	SNP	A	A	G			TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	g.chr4:104074328A>G	ENST00000265148.3	-	25	3202	c.3113T>C	c.(3112-3114)aTa>aCa	p.I1038T	CENPE_ENST00000380026.3_Missense_Mutation_p.I1013T	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1038					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTGCTCAATTATCTCATTATC	0.313																																						ENST00000265148.3											0			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101						c.(3112-3114)aTa>aCa	centromere protein E, 312kDa						132.0	127.0	129.0					4																	104074328		2202	4298	6500	SO:0001583	missense	1062			blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104074328A>G	Z15005	Z15005	CCDS34042.1, CCDS68768.1	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29		2013-11-05	2002-08-29			ENSG00000138778		ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	1856	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	"""protein phosphatase 1, regulatory subunit 61"""	117143	117143	"""centromere protein E (312kD)"""		"""centromere protein E (312kD)"""			7851898	7851898	Standard	Standard	NM_001286734	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	uc003hxb.1	Q02224	Q02224			ENST00000265148.3:c.3113T>C	4.37:g.104074328A>G	ENSP00000265148:p.Ile1038Thr		CENPE_ENST00000380026.3_Missense_Mutation_p.I1013T	p.I1038T	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	25	3202	-			1038		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	c.3113T>C	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	A	4.990	0.183896	0.09495	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	D;D;D	0.94280	-3.39;-3.39;-3.39	3.88	-0.12	0.13539	3.88	-0.12	0.13539	.	.	.	.	.	T	0.80613	0.4656	N	0.08118	0	0.09310	N	1	B;B	0.24721	0.11;0.081	B;B	0.17098	0.017;0.01	T	0.68488	-0.5395	9	0.33940	T	0.23	.	1.138	0.01759	0.5112:0.1537:0.1856:0.1495	.	1013;1038	Q02224-3;Q02224	.;CENPE_HUMAN	T	1038;1038;1013;1038	ENSP00000265148:I1038T;ENSP00000369365:I1013T;ENSP00000423981:I1038T	ENSP00000265148:I1038T	I	-	2	0	0	CENPE	104293777	104293777	0.001000	0.12720	0.000000	0.03702	0.039000	0.13416	0.913000	0.28611	-0.097000	0.12307	0.460000	0.39030	ATA		0.313	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			26.401335	-11	-11	33	33			8	26.463529	26.463529	6	0.571429	0	0	0	1	0	8	6	0.571429
C11orf54	28970	broad.mit.edu	37	11	93487180	93487180	+	Missense_Mutation	SNP	C	C	A			TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	g.chr11:93487180C>A	ENST00000331239.4	+	5	486	c.307C>A	c.(307-309)Cag>Aag	p.Q103K	C11orf54_ENST00000528099.1_Missense_Mutation_p.Q103K|C11orf54_ENST00000540113.1_Missense_Mutation_p.Q84K|C11orf54_ENST00000354421.3_Missense_Mutation_p.Q103K|C11orf54_ENST00000528288.1_Missense_Mutation_p.Q103K			Q9H0W9	CK054_HUMAN	chromosome 11 open reading frame 54	103					metabolic process (GO:0008152)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|large_intestine(1)|lung(5)	8		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AGGTCCATTTCAGACTCTCGG	0.338																																						ENST00000528288.1											0			NS(1)|endometrium(1)|large_intestine(1)|lung(5)	8						c.(307-309)Cag>Aag	chromosome 11 open reading frame 54						90.0	102.0	98.0					11																	93487180		2198	4298	6496	SO:0001583	missense	28970				nucleus	hydrolase activity, acting on ester bonds|protein binding|zinc ion binding	g.chr11:93487180C>A	AF092133	AF092133	CCDS8294.1, CCDS66204.1, CCDS73365.1, CCDS73366.1	CCDS8294.1, CCDS66204.1, CCDS73365.1, CCDS73366.1	11q21	2012-08-09			2012-08-09			ENSG00000182919	ENSG00000182919	ENSG00000182919	ENSG00000182919				30204	30204	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			615810	615810						16522806	16522806	Standard	Standard	NM_014039	NM_014039		Approved	PTD012	uc001pef.3	uc001pef.3	Q9H0W9	Q9H0W9	OTTHUMG00000167452	OTTHUMG00000167452	ENST00000331239.4:c.307C>A	11.37:g.93487180C>A	ENSP00000331209:p.Gln103Lys		C11orf54_ENST00000540113.1_Missense_Mutation_p.Q84K|C11orf54_ENST00000354421.3_Missense_Mutation_p.Q103K|C11orf54_ENST00000528099.1_Missense_Mutation_p.Q103K|C11orf54_ENST00000331239.4_Missense_Mutation_p.Q103K	p.Q103K	NM_014039.2	NP_054758.2	Q9H0W9	CK054_HUMAN			5	542	+		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	103		A8K850|Q6FI88|Q6XYB0|Q96EI3|Q96IX1|Q9Y6B4	Missense_Mutation	SNP	ENST00000331239.4	37	c.307C>A		.	.	.	.	.	.	.	.	.	.	C	4.449	0.083089	0.08533	.	.	ENSG00000182919	ENST00000528288;ENST00000331239;ENST00000528099;ENST00000354421;ENST00000540113;ENST00000530620;ENST00000531650;ENST00000524485;ENST00000527363;ENST00000526335	.	.	.	4.95	4.95	0.65309	4.95	4.95	0.65309	Domain of unknown function DUF1907 (1);	0.217358	0.48286	D	0.000187	T	0.26991	0.0661	N	0.04203	-0.255	0.37889	D	0.930664	B;B;B	0.16396	0.017;0.002;0.017	B;B;B	0.16289	0.015;0.004;0.015	T	0.22277	-1.0221	9	0.11182	T	0.66	-4.599	11.2584	0.49067	0.3109:0.6891:0.0:0.0	.	103;103;103	Q9H0W9;Q9H0W9-3;A8K718	CK054_HUMAN;.;.	K	103;103;103;103;84;84;103;84;103;103	.	ENSP00000331209:Q103K	Q	+	1	0	0	C11orf54	93126828	93126828	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	5.662000	0.68032	2.586000	0.87340	0.591000	0.81541	CAG		0.338	C11orf54-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394671.1		-31.043220	-50	-50	82	82	NM_014039		4	6.974547	6.974547	149	0.026144	1	0	1	1	1	4	149	0.026144
FCRL1	115350	broad.mit.edu	37	1	157771734	157771734	+	Missense_Mutation	SNP	C	C	T	rs551893022		TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	g.chr1:157771734C>T	ENST00000368176.3	-	5	924	c.857G>A	c.(856-858)cGc>cAc	p.R286H	FCRL1_ENST00000491942.1_Missense_Mutation_p.R286H|FCRL1_ENST00000358292.3_Missense_Mutation_p.R286H|FCRL1_ENST00000489998.1_5'UTR	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	286	Ig-like C2-type 3.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CGCCTCACTGCGCTGGGCCCC	0.562																																					GBM(54;482 1003 11223 30131 35730)	ENST00000358292.3											0			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42						c.(856-858)cGc>cAc	Fc receptor-like 1						79.0	84.0	82.0					1																	157771734		2203	4300	6503	SO:0001583	missense	115350				integral to membrane|plasma membrane	receptor activity	g.chr1:157771734C>T	BC033690	BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			2013-01-14			ENSG00000163534	ENSG00000163534	ENSG00000163534	ENSG00000163534		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18509	18509	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606508	606508						11493702, 11929751	11493702, 11929751	Standard	Standard	NM_052938	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	uc001frg.3	Q96LA6	Q96LA6	OTTHUMG00000019398	OTTHUMG00000019398	ENST00000368176.3:c.857G>A	1.37:g.157771734C>T	ENSP00000357158:p.Arg286His		FCRL1_ENST00000491942.1_Missense_Mutation_p.R286H|FCRL1_ENST00000368176.3_Missense_Mutation_p.R286H|FCRL1_ENST00000489998.1_5'UTR	p.R286H	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		5	908	-	all_hematologic(112;0.0378)		286	Ig-like C2-type 3.	B2RE05|Q8N759|Q8NDI0|Q96PJ6	Missense_Mutation	SNP	ENST00000368176.3	37	c.857G>A	CCDS1170.1	.	.	.	.	.	.	.	.	.	.	C	3.010	-0.204159	0.06180	.	.	ENSG00000163534	ENST00000358292;ENST00000368176;ENST00000491942	T;T;T	0.03496	3.91;3.91;3.91	5.1	-5.03	0.02973	5.1	-5.03	0.02973	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.308130	0.04796	N	0.432487	T	0.00967	0.0032	L	0.39514	1.22	0.09310	N	1	B;B;B	0.28291	0.206;0.055;0.086	B;B;B	0.24269	0.052;0.048;0.004	T	0.45948	-0.9226	10	0.25106	T	0.35	.	7.2503	0.26146	0.1309:0.2382:0.0:0.6308	.	286;286;286	Q96LA6-3;Q96LA6-2;Q96LA6	.;.;FCRL1_HUMAN	H	286	ENSP00000351039:R286H;ENSP00000357158:R286H;ENSP00000418130:R286H	ENSP00000351039:R286H	R	-	2	0	0	FCRL1	156038358	156038358	0.103000	0.21917	0.007000	0.13788	0.266000	0.26442	-1.013000	0.03645	-0.683000	0.05190	-0.781000	0.03364	CGC		0.562	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051401.1		115.364445	-41	-41	67	67	NM_052938		37	115.623669	115.623669	47	0.440476	0	0	0	1	0	37	47	0.440476
VPREB3	29802	broad.mit.edu	37	22	24095146	24095146	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	g.chr22:24095146C>T	ENST00000248948.3	-	2	393	c.289G>A	c.(289-291)Gcc>Acc	p.A97T	VPREB3_ENST00000398465.3_Missense_Mutation_p.A81T|ZNF70_ENST00000341976.3_5'Flank	NM_013378.2	NP_037510.1	Q9UKI3	VPRE3_HUMAN	pre-B lymphocyte 3	97	Ig-like.					endoplasmic reticulum (GO:0005783)				large_intestine(1)|lung(1)|skin(1)	3		Medulloblastoma(6;7.87e-06)|all_neural(6;0.00334)				AGGACACAGGCATTGTGGGCC	0.587																																						ENST00000248948.3											0			large_intestine(1)|lung(1)|skin(1)	3						c.(289-291)Gcc>Acc	pre-B lymphocyte 3						111.0	87.0	95.0					22																	24095146		2203	4300	6503	SO:0001583	missense	29802				endoplasmic reticulum		g.chr22:24095146C>T			CCDS13813.1	CCDS13813.1	22q11.23	2013-01-11	2008-09-12		2013-01-11	2008-09-12		ENSG00000128218	ENSG00000128218	ENSG00000128218	ENSG00000128218		"""Immunoglobulin superfamily / V-set domain containing"""	"""Immunoglobulin superfamily / V-set domain containing"""	12710	12710	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605017	605017						10702669, 14670953	10702669, 14670953	Standard	Standard	NM_013378	NM_013378		Approved	8HS20	uc002zxt.3	uc002zxt.3	Q9UKI3	Q9UKI3	OTTHUMG00000150738	OTTHUMG00000150738	ENST00000248948.3:c.289G>A	22.37:g.24095146C>T	ENSP00000248948:p.Ala97Thr		VPREB3_ENST00000398465.3_Missense_Mutation_p.A81T	p.A97T	NM_013378.2	NP_037510.1	Q9UKI3	VPRE3_HUMAN			2	393	-		Medulloblastoma(6;7.87e-06)|all_neural(6;0.00334)	97	Ig-like.	B2R587	Missense_Mutation	SNP	ENST00000248948.3	37	c.289G>A	CCDS13813.1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.278712	0.23307	.	.	ENSG00000128218	ENST00000398465;ENST00000248948	T;T	0.63580	-0.05;-0.05	5.04	2.96	0.34315	5.04	2.96	0.34315	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.154834	0.30620	N	0.009222	T	0.33381	0.0861	N	0.11364	0.135	0.09310	N	1	B	0.21071	0.051	B	0.23275	0.045	T	0.26883	-1.0090	10	0.05620	T	0.96	.	6.5635	0.22499	0.0:0.6911:0.1479:0.1609	.	97	Q9UKI3	VPRE3_HUMAN	T	81;97	ENSP00000381483:A81T;ENSP00000248948:A97T	ENSP00000248948:A97T	A	-	1	0	0	VPREB3	22425146	22425146	0.000000	0.05858	0.007000	0.13788	0.034000	0.12701	-0.330000	0.07925	0.866000	0.35629	0.650000	0.86243	GCC		0.587	VPREB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319879.2		73.873134	-18	-18	25	25	NM_013378		25	73.877533	73.877533	24	0.510204	0	0	0	1	0	25	24	0.510204
IRAK3	11213	broad.mit.edu	37	12	66638726	66638726	+	Splice_Site	SNP	A	A	G			TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	g.chr12:66638726A>G	ENST00000261233.4	+	10	1507		c.e10-1		IRAK3_ENST00000457197.2_Splice_Site	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3											breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		TATTCCTTGTAGGTAATAATG	0.318																																						ENST00000261233.4											0			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36						c.e10-1	interleukin-1 receptor-associated kinase 3						58.0	59.0	59.0					12																	66638726		2203	4300	6503	SO:0001630	splice_region_variant	0			interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity	g.chr12:66638726A>G	AF113136	AF113136	CCDS8975.1, CCDS44937.1	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			2008-05-02			ENSG00000090376	ENSG00000090376	ENSG00000090376	ENSG00000090376				17020	17020	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604459	604459						10383454	10383454	Standard	Standard	NM_001142523	NM_001142523		Approved	IRAK-M	uc001sth.3	uc001sth.3	Q9Y616	Q9Y616	OTTHUMG00000169002	OTTHUMG00000169002	ENST00000261233.4:c.1087-1A>G	12.37:g.66638726A>G			IRAK3_ENST00000457197.2_Splice_Site		NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN		GBM - Glioblastoma multiforme(28;0.0203)	10	1507	+						Splice_Site	SNP	ENST00000261233.4	37		CCDS8975.1	.	.	.	.	.	.	.	.	.	.	A	11.03	1.518000	0.27211	.	.	ENSG00000090376	ENST00000261233;ENST00000457197	.	.	.	6.03	6.03	0.97812	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.95	0.58394	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	IRAK3	64924993	64924993	1.000000	0.71417	0.984000	0.44739	0.030000	0.12068	6.219000	0.72231	2.308000	0.77769	0.533000	0.62120	.		0.318	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401908.1		129.253525	-30	-30	40	40		Intron	38	129.256475	129.256475	37	0.506667	0	0	0	1	0	38	37	0.506667
FUS	2521	broad.mit.edu	37	16	31193944	31193944	+	Missense_Mutation	SNP	A	A	G			TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	g.chr16:31193944A>G	ENST00000254108.7	+	3	254	c.149A>G	c.(148-150)tAt>tGt	p.Y50C	FUS_ENST00000380244.3_Missense_Mutation_p.Y50C|FUS_ENST00000568685.1_Missense_Mutation_p.Y50C|RP11-388M20.6_ENST00000564743.1_RNA	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	FUS RNA binding protein	50	Gln/Gly/Ser/Tyr-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		ACTTCAGGCTATGGCCAGAGC	0.522			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""																																	ENST00000254108.7		Dom	yes		16	16p11.2	2521	"""fusion, derived from t(12;16) malignant liposarcoma"""		"""M, L"""	0			breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22						c.(148-150)tAt>tGt	fused in sarcoma						101.0	95.0	97.0					16																	31193944		2197	4300	6497	SO:0001583	missense	2521			cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr16:31193944A>G	AF071213	AF071213	CCDS10707.1, CCDS58454.1	CCDS10707.1, CCDS58454.1	16p11.2	2014-09-17	2014-05-09		2014-09-17	2014-05-09		ENSG00000089280	ENSG00000089280	ENSG00000089280	ENSG00000089280		"""RNA binding motif (RRM) containing"""	"""RNA binding motif (RRM) containing"""	4010	4010	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein P2"", ""translocated in liposarcoma"""	"""heterogeneous nuclear ribonucleoprotein P2"", ""translocated in liposarcoma"""	137070	137070	"""fusion, derived from t(12;16) malignant liposarcoma"", ""amyotrophic lateral sclerosis 6"", ""fusion (involved in t(12;16) in malignant liposarcoma)"", ""fused in sarcoma"""	ALS6	"""fusion, derived from t(12;16) malignant liposarcoma"", ""amyotrophic lateral sclerosis 6"", ""fusion (involved in t(12;16) in malignant liposarcoma)"", ""fused in sarcoma"""	ALS6		2372777, 7503811, 19251628, 19251627	2372777, 7503811, 19251628, 19251627	Standard	Standard	NM_004960	NM_004960		Approved	TLS, FUS1, hnRNP-P2, HNRNPP2	uc002ebe.2	uc002ebe.2	P35637	P35637	OTTHUMG00000132395	OTTHUMG00000132395	ENST00000254108.7:c.149A>G	16.37:g.31193944A>G	ENSP00000254108:p.Tyr50Cys		RP11-388M20.6_ENST00000564743.1_RNA|FUS_ENST00000568685.1_Missense_Mutation_p.Y50C|FUS_ENST00000380244.3_Missense_Mutation_p.Y50C	p.Y50C	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)	3	254	+		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)	50	Gln/Gly/Ser/Tyr-rich.	Q9H4A8	Missense_Mutation	SNP	ENST00000254108.7	37	c.149A>G	CCDS10707.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.965003	0.74131	.	.	ENSG00000089280	ENST00000254108;ENST00000394533	T	0.80653	-1.4	6.11	6.11	0.99139	6.11	6.11	0.99139	.	0.157258	0.42964	D	0.000631	D	0.90024	0.6885	M	0.80616	2.505	0.52099	D	0.999941	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.996;0.998;0.996;0.997	D	0.91034	0.4866	10	0.72032	D	0.01	-7.1996	15.6822	0.77381	1.0:0.0:0.0:0.0	.	50;50;50;50;50	B4DVJ7;Q6IBQ5;P35637-2;P35637;E7EUX0	.;.;.;FUS_HUMAN;.	C	50	ENSP00000254108:Y50C	ENSP00000254108:Y50C	Y	+	2	0	0	FUS	31101445	31101445	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.561000	0.73955	2.343000	0.79666	0.496000	0.49642	TAT		0.522	FUS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255526.2		205.809815	-17	-17	88	88	NM_004960		60	205.90432	205.904320	53	0.530973	0	0	0	1	0	60	53	0.530973
ZNF527	84503	broad.mit.edu	37	19	37880647	37880647	+	Missense_Mutation	SNP	A	A	G			TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	g.chr19:37880647A>G	ENST00000436120.2	+	5	1803	c.1696A>G	c.(1696-1698)Atc>Gtc	p.I566V	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	566					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTTCATCAGATCTTGTCCCT	0.398																																						ENST00000436120.2											0			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33						c.(1696-1698)Atc>Gtc	zinc finger protein 527						47.0	52.0	51.0					19																	37880647		2197	4295	6492	SO:0001583	missense	84503			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37880647A>G	AB058732, AK091585	AB058732, AK091585	CCDS42559.1	CCDS42559.1	19q13.1	2013-01-08			2013-01-08			ENSG00000189164	ENSG00000189164	ENSG00000189164	ENSG00000189164		"""Zinc fingers, C2H2-type"", ""-"""	"""Zinc fingers, C2H2-type"", ""-"""	29385	29385	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										11347906	11347906	Standard	Standard	NM_032453	NM_032453		Approved	KIAA1829	uc010efk.1	uc010efk.1	Q8NB42	Q8NB42	OTTHUMG00000048173	OTTHUMG00000048173	ENST00000436120.2:c.1696A>G	19.37:g.37880647A>G	ENSP00000390179:p.Ile566Val		ZNF527_ENST00000587349.1_Intron	p.I566V	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1803	+			566		B4DVL5	Missense_Mutation	SNP	ENST00000436120.2	37	c.1696A>G	CCDS42559.1	.	.	.	.	.	.	.	.	.	.	A	2.283	-0.364284	0.05103	.	.	ENSG00000189164	ENST00000356178;ENST00000317566;ENST00000436120	T	0.35605	1.3	3.84	0.108	0.14548	3.84	0.108	0.14548	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34959	N	0.003556	T	0.16514	0.0397	N	0.13235	0.315	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.24297	-1.0164	10	0.16420	T	0.52	.	7.4605	0.27291	0.673:0.0:0.327:0.0	.	566;534	Q8NB42;Q8NB42-2	ZN527_HUMAN;.	V	566;534;514	ENSP00000390179:I514V	ENSP00000325231:I534V	I	+	1	0	0	ZNF527	42572487	42572487	0.000000	0.05858	0.020000	0.16555	0.924000	0.55760	-0.823000	0.04443	-0.227000	0.09884	0.533000	0.62120	ATC		0.398	ZNF527-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458434.1		110.908284	5	5	78	78	NM_032453		35	110.920762	110.920762	37	0.486111	0	0	0	1	0	35	37	0.486111
OVCH1	341350	broad.mit.edu	37	12	29597085	29597085	+	Missense_Mutation	SNP	T	T	C			TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	g.chr12:29597085T>C	ENST00000318184.5	-	24	3009	c.3010A>G	c.(3010-3012)Act>Gct	p.T1004A	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	1004						extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TACCCCATAGTAGTTCTGTGA	0.398																																						ENST00000318184.5											0			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92						c.(3010-3012)Act>Gct	ovochymase 1						201.0	199.0	200.0					12																	29597085		1825	4085	5910	SO:0001583	missense	341350			proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:29597085T>C	BN000128	BN000128			12p11.23	2012-11-08			2012-11-08			ENSG00000187950	ENSG00000187950	ENSG00000187950	ENSG00000187950				23080	23080	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12838346	12838346	Standard	Standard	NM_183378	NM_183378		Approved	OVCH	uc001rix.1	uc001rix.1	Q7RTY7	Q7RTY7	OTTHUMG00000167741	OTTHUMG00000167741	ENST00000318184.5:c.3010A>G	12.37:g.29597085T>C	ENSP00000326708:p.Thr1004Ala		OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	p.T1004A	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN			24	3009	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		1004			Missense_Mutation	SNP	ENST00000318184.5	37	c.3010A>G		.	.	.	.	.	.	.	.	.	.	T	0.016	-1.515327	0.00975	.	.	ENSG00000187950	ENST00000318184;ENST00000537054	T;T	0.33654	1.4;2.13	2.49	1.32	0.21799	2.49	1.32	0.21799	CUB (2);	.	.	.	.	T	0.12050	0.0293	N	0.08118	0	0.09310	N	1	P	0.38827	0.649	B	0.33042	0.157	T	0.13872	-1.0493	9	0.05959	T	0.93	.	4.2969	0.10906	0.0:0.1687:0.0:0.8313	.	1004	Q7RTY7	OVCH1_HUMAN	A	1004;29	ENSP00000326708:T1004A;ENSP00000445480:T29A	ENSP00000326708:T1004A	T	-	1	0	0	OVCH1	29488352	29488352	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.318000	0.19504	0.385000	0.24970	0.460000	0.39030	ACT		0.398	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2		280.039367	-79	-79	117	117	NM_183378		83	280.083475	280.083475	89	0.482558	0	0	0	1	0	83	89	0.482558
HEATR2	54919	broad.mit.edu	37	7	803563	803563	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	g.chr7:803563G>A	ENST00000297440.6	+	8	1755	c.1735G>A	c.(1735-1737)Gca>Aca	p.A579T	HEATR2_ENST00000313147.5_Missense_Mutation_p.A579T	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	579						cytoplasm (GO:0005737)				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		TGACTGGACCGCACACTCGCC	0.657																																						ENST00000297440.6											0			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22						c.(1735-1737)Gca>Aca	HEAT repeat containing 2						118.0	104.0	109.0					7																	803563		2203	4300	6503	SO:0001583	missense	54919					protein binding	g.chr7:803563G>A	AL832914, AK000404, NM_017802, AK056233	AL832914, AK000404, NM_017802, AK056233	CCDS34580.1	CCDS34580.1	7p22.3	2014-05-06	2006-05-19		2014-05-06	2006-05-19		ENSG00000164818	ENSG00000164818	ENSG00000164818	ENSG00000164818				26013	26013	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			614864	614864						23040496	23040496	Standard	Standard	NM_017802	NM_017802		Approved	FLJ20397, FLJ31671, FLJ39381, FLJ25564, CILD18	uc010krz.1	uc010krz.1	Q86Y56	Q86Y56	OTTHUMG00000151416	OTTHUMG00000151416	ENST00000297440.6:c.1735G>A	7.37:g.803563G>A	ENSP00000297440:p.Ala579Thr		HEATR2_ENST00000313147.5_Missense_Mutation_p.A579T	p.A579T	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)	8	1755	+		Ovarian(82;0.0112)	579		Q69YL1|Q96FI9|Q9NX75	Missense_Mutation	SNP	ENST00000297440.6	37	c.1735G>A	CCDS34580.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.174|4.174	0.030770|0.030770	0.08101|0.08101	.|.	.|.	ENSG00000164818|ENSG00000164818	ENST00000297440;ENST00000313147;ENST00000537862|ENST00000440747	T;T|.	0.64803|.	-0.12;-0.12|.	5.03|5.03	0.185|0.185	0.15096|0.15096	5.03|5.03	0.185|0.185	0.15096|0.15096	Armadillo-type fold (1);|.	0.590962|.	0.18530|.	N|.	0.138510|.	T|T	0.16041|0.16041	0.0386|0.0386	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B;B|.	0.27823|.	0.12;0.19|.	B;B|.	0.15052|.	0.005;0.012|.	T|T	0.21211|0.21211	-1.0252|-1.0252	10|5	0.10902|.	T|.	0.67|.	-9.6938|-9.6938	0.8086|0.8086	0.01089|0.01089	0.2741:0.1121:0.3703:0.2434|0.2741:0.1121:0.3703:0.2434	.|.	579;325|.	Q86Y56;F5H8D4|.	HEAT2_HUMAN;.|.	T|H	579;579;325|380	ENSP00000297440:A579T;ENSP00000321451:A579T|.	ENSP00000297440:A579T|.	A|R	+|+	1|2	0|0	0|0	HEATR2|HEATR2	770089|770089	770089|770089	0.042000|0.042000	0.20092|0.20092	0.000000|0.000000	0.03702|0.03702	0.008000|0.008000	0.06430|0.06430	0.645000|0.645000	0.24782|0.24782	0.214000|0.214000	0.20742|0.20742	0.561000|0.561000	0.74099|0.74099	GCA|CGC		0.657	HEATR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322542.1		-16.880603	-45	-45	90	90	NM_017802		4	7.33742	7.337420	101	0.038095	0	0	0	1	0	4	101	0.038095
PDE4D	5144	broad.mit.edu	37	5	58289225	58289225	+	Nonsense_Mutation	SNP	G	G	C			TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	g.chr5:58289225G>C	ENST00000340635.6	-	7	1164	c.989C>G	c.(988-990)tCa>tGa	p.S330*	PDE4D_ENST00000317118.8_Nonsense_Mutation_p.S39*|PDE4D_ENST00000507116.1_Nonsense_Mutation_p.S266*|PDE4D_ENST00000502484.2_Nonsense_Mutation_p.S269*|PDE4D_ENST00000358923.6_Nonsense_Mutation_p.S28*|PDE4D_ENST00000360047.5_Nonsense_Mutation_p.S194*|PDE4D_ENST00000503258.1_Nonsense_Mutation_p.S200*|PDE4D_ENST00000546160.1_Nonsense_Mutation_p.S269*|PDE4D_ENST00000405755.2_Nonsense_Mutation_p.S208*	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	330					adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	TATAAACTCTGACACTTGATT	0.338																																						ENST00000340635.6											0			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15						c.(988-990)tCa>tGa	phosphodiesterase 4D, cAMP-specific						81.0	79.0	80.0					5																	58289225		1817	4082	5899	SO:0001587	stop_gained	5144			signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr5:58289225G>C			CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24		2010-06-24	2010-06-24						3.1.4.17	"""Phosphodiesterases"""	"""Phosphodiesterases"""	8783	8783	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""phosphodiesterase E3 dunce homolog (Drosophila)"""	"""phosphodiesterase E3 dunce homolog (Drosophila)"""	600129	600129	"""phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"""	DPDE3	"""phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"""	DPDE3				Standard	Standard	NM_006203	NM_006203		Approved		uc003jsa.2	uc003jsa.2	Q08499	Q08499			ENST00000340635.6:c.989C>G	5.37:g.58289225G>C	ENSP00000345502:p.Ser330*		PDE4D_ENST00000507116.1_Nonsense_Mutation_p.S266*|PDE4D_ENST00000503258.1_Nonsense_Mutation_p.S200*|PDE4D_ENST00000502484.2_Nonsense_Mutation_p.S269*|PDE4D_ENST00000317118.8_Nonsense_Mutation_p.S39*|PDE4D_ENST00000360047.5_Nonsense_Mutation_p.S194*|PDE4D_ENST00000358923.6_Nonsense_Mutation_p.S28*|PDE4D_ENST00000546160.1_Nonsense_Mutation_p.S269*|PDE4D_ENST00000405755.2_Nonsense_Mutation_p.S208*	p.S330*	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	7	1164	-		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)	330		O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Nonsense_Mutation	SNP	ENST00000340635.6	37	c.989C>G	CCDS47213.1	.	.	.	.	.	.	.	.	.	.	G	33	5.197607	0.94997	.	.	ENSG00000113448	ENST00000340635;ENST00000356665;ENST00000360047;ENST00000507116;ENST00000358923;ENST00000317118;ENST00000503258;ENST00000405755;ENST00000502484;ENST00000546160;ENST00000505453	.	.	.	5.06	5.06	0.68205	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.6271	0.91344	0.0:0.0:1.0:0.0	.	.	.	.	X	330;199;194;266;28;39;200;208;269;269;28	.	ENSP00000321739:S39X	S	-	2	0	0	PDE4D	58324982	58324982	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	9.492000	0.97957	2.644000	0.89710	0.557000	0.71058	TCA		0.338	PDE4D-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367940.3		69.771374	-27	-27	41	41			21	69.846997	69.846997	25	0.456522	0	0	0	1	0	21	25	0.456522
CAND1	55832	broad.mit.edu	37	12	67705551	67705551	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	g.chr12:67705551G>A	ENST00000545606.1	+	14	3876	c.3439G>A	c.(3439-3441)Gag>Aag	p.E1147K		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	1147					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		CCGACTTGTTGAGCCATTACG	0.403																																						ENST00000545606.1											0			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35						c.(3439-3441)Gag>Aag	cullin-associated and neddylation-dissociated 1						147.0	130.0	136.0					12																	67705551		2203	4300	6503	SO:0001583	missense	55832			cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding	g.chr12:67705551G>A			CCDS8977.1	CCDS8977.1	12q14	2008-02-05			2008-02-05			ENSG00000111530	ENSG00000111530	ENSG00000111530	ENSG00000111530				30688	30688	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""TBP interacting protein"""	"""TBP interacting protein"""	607727	607727						10048485, 8954946	10048485, 8954946	Standard	Standard	NM_018448	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	uc001stn.2	Q86VP6	Q86VP6	OTTHUMG00000169060	OTTHUMG00000169060	ENST00000545606.1:c.3439G>A	12.37:g.67705551G>A	ENSP00000442318:p.Glu1147Lys			p.E1147K	NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)	14	3876	+			1147		B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP	ENST00000545606.1	37	c.3439G>A	CCDS8977.1	.	.	.	.	.	.	.	.	.	.	G	36	5.834492	0.97003	.	.	ENSG00000111530	ENST00000545606;ENST00000299218;ENST00000544619	T;T	0.68181	-0.31;-0.31	5.93	5.93	0.95920	5.93	5.93	0.95920	TATA-binding protein interacting (TIP20) (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.86694	0.5994	M	0.92412	3.305	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.71870	0.956;0.975	D	0.88493	0.3077	9	.	.	.	-15.0934	20.3334	0.98727	0.0:0.0:1.0:0.0	.	979;1147	Q86VP6-2;Q86VP6	.;CAND1_HUMAN	K	1147;1147;687	ENSP00000442318:E1147K;ENSP00000444089:E687K	.	E	+	1	0	0	CAND1	65991818	65991818	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	9.547000	0.98100	2.818000	0.97014	0.591000	0.81541	GAG		0.403	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1		155.939281	-28	-28	75	75	NM_018448		50	156.101036	156.101036	59	0.458716	0	0	0	1	0	50	59	0.458716
RAET1E	135250	broad.mit.edu	37	6	150201660	150201660	+	IGR	DEL	T	T	-			TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	g.chr6:150201660delT	ENST00000532335.1	-	0	2099				RP11-244K5.8_ENST00000606915.1_RNA	NM_001243328.1	NP_001230257.1	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E						antigen processing and presentation (GO:0019882)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)			cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		CGTGTGATGATTTGCTGCAGC	0.453																																						ENST00000606915.1											0																																														SO:0001628	intergenic_variant	0						g.chr6:150201660delT	AF359243	AF359243	CCDS5221.1, CCDS59042.1, CCDS59043.1, CCDS59044.1	CCDS5221.1, CCDS59042.1, CCDS59043.1, CCDS59044.1	6q24.3	2011-02-09			2011-02-09			ENSG00000164520	ENSG00000164520	ENSG00000164520	ENSG00000164520				16793	16793	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609243	609243						11827464	11827464	Standard	Standard	NM_139165	NM_139165		Approved	LETAL, bA350J20.7, ULBP4	uc003qnl.1	uc003qnl.1	Q8TD07	Q8TD07	OTTHUMG00000015796	OTTHUMG00000015796		6.37:g.150201660delT					NR_045126.1						0	889	+					A6YF59|Q5VYB7|Q5VYB8|Q8TEZ2|Q96L41	RNA	DEL	ENST00000532335.1	37		CCDS59043.1																																																																																									0.453	RAET1E-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000384020.1	.	.	-5	-5	9	9	NM_139165		2			4	0.33						2	4	0.33
SORL1	6653	broad.mit.edu	37	11	121323156	121323157	+	Frame_Shift_Ins	INS	-	-	C			TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	g.chr11:121323156_121323157insC	ENST00000260197.7	+	1	245_246	c.116_117insC	c.(115-120)agcgcgfs	p.A40fs	RP11-730K11.1_ENST00000501964.1_RNA|RP11-730K11.1_ENST00000529160.1_RNA|SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	40					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CACGGCGGCAGCGCGCCCTTGC	0.743																																						ENST00000260197.7											0			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91						c.(115-120)agcgcgfs	sortilin-related receptor, L(DLR class) A repeats containing																																			SO:0001589	frameshift_variant	6653			cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121323156_121323157insC	Y08110	Y08110	CCDS8436.1	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642	ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	"""Fibronectin type III domain containing"""	11185	11185	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	"""LDLR relative with 11 ligand-binding repeats"""	602005	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	9157966, 8940146	Standard	Standard	NM_003105	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	uc001pxx.3	Q92673	Q92673	OTTHUMG00000166057	OTTHUMG00000166057	ENST00000260197.7:c.117dupC	11.37:g.121323157_121323157dupC	ENSP00000260197:p.Ala40fs		SORL1_ENST00000532451.1_3'UTR|RP11-730K11.1_ENST00000529160.1_RNA|RP11-730K11.1_ENST00000501964.1_RNA	p.A40fs	NM_003105.5	NP_003096	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	1	245_246	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	40		B2RNX7|Q92856	Frame_Shift_Ins	INS	ENST00000260197.7	37	c.116_117insC	CCDS8436.1																																																																																									0.743	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	.	.	3	3	3	3	NM_003105		2			4	0.33						2	4	0.33
PHF7	51533	broad.mit.edu	37	3	52441978	52441978	+	5'Flank	DEL	G	G	-			TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	g.chr3:52441978delG	ENST00000327906.3	+	0	0				BAP1_ENST00000460680.1_Frame_Shift_Del_p.P124fs|BAP1_ENST00000296288.5_Frame_Shift_Del_p.P124fs	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7							Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.F118fs*1(1)		breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		GCCTACCTCAGGGCTGAAACC	0.567																																						ENST00000460680.1											1	Deletion - Frameshift(1)	eye(1)	NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.(370-372)cctfs	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)						56.0	51.0	53.0					3																	52441978		2203	4300	6503	SO:0001631	upstream_gene_variant	8314			monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:52441978delG	AY014283	AF045581	CCDS2854.1, CCDS2855.1	CCDS2853.1	3p21.31	2013-01-28			2014-09-17			ENSG00000010318	ENSG00000010318	ENSG00000163930	ENSG00000163930		"""Zinc fingers, PHD-type"""		18458	950	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product				603089						11042152, 11829468	9528852	Standard	Standard	NM_016483	NM_004656		Approved	NYD-SP6, HSPC226	uc003ddy.3	uc003ddx.4	Q9BWX1	Q92560	OTTHUMG00000158495	OTTHUMG00000158392		3.37:g.52441978delG	Exception_encountered		BAP1_ENST00000296288.5_Frame_Shift_Del_p.P124fs	p.P124fs	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	5	842	-			124		K4DI82	Frame_Shift_Del	DEL	ENST00000327906.3	37	c.371delC	CCDS2854.1																																																																																									0.567	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1	.	.	-12	-12	28	28	NM_016483		17			4	0.81						17	4	0.81
PHF7	51533	broad.mit.edu	37	3	52441977	52441978	+	5'Flank	DEL	AG	AG	-			TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	g.chr3:52441977_52441978delAG	ENST00000327906.3	+	0	0				BAP1_ENST00000460680.1_Frame_Shift_Del_p.P124fs|BAP1_ENST00000296288.5_Frame_Shift_Del_p.P124fs	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7							Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.F118fs*1(1)		breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		AGCCTACCTCAGGGCTGAAACC	0.564																																						ENST00000460680.1											1	Deletion - Frameshift(1)	eye(1)	NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.(370-372)cctfs	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)																																			SO:0001631	upstream_gene_variant	8314			anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	g.chr3:52441977_52441978delAG	AY014283	AF045581	CCDS2854.1, CCDS2855.1	CCDS2853.1	3p21.31	2013-01-28			2014-09-17			ENSG00000010318	ENSG00000010318	ENSG00000163930	ENSG00000163930		"""Zinc fingers, PHD-type"""		18458	950	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product				603089						11042152, 11829468	9528852	Standard	Standard	NM_016483	NM_004656		Approved	NYD-SP6, HSPC226	uc003ddy.3	uc003ddx.4	Q9BWX1	Q92560	OTTHUMG00000158495	OTTHUMG00000158392		3:g.52441977_52441978delAG	Exception_encountered		PHF7_ENST00000327906.3_5'Flank|BAP1_ENST00000296288.5_Frame_Shift_Del_p.P124fs	p.P124fs	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	5	842_843	-			0	Interaction with HIP2.	K4DI82	Frame_Shift_Del	DEL	ENST00000327906.3		c.371_372delCT	CCDS2854.1																																																																																									0.564	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1	6.920000e+00	4.984000e+01	-12	-12	26	26	NM_016483		17			3	8.820000e-01						17	3	0.882
