#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
NUFIP2	57532	broad.mit.edu	37	17	27620994	27620994	+	Missense_Mutation	SNP	C	C	G			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr17:27620994C>G	ENST00000225388.4	-	1	142	c.84G>C	c.(82-84)caG>caC	p.Q28H	NUFIP2_ENST00000579665.1_Missense_Mutation_p.Q28H	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	28	His-rich.					cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			ggtgcggctgctgctgctgct	0.587																																						ENST00000225388.4											0			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24						c.(82-84)caG>caC	nuclear fragile X mental retardation protein interacting protein 2						55.0	58.0	57.0					17																	27620994		2203	4299	6502	SO:0001583	missense	57532				nucleus|polysomal ribosome	protein binding|RNA binding	g.chr17:27620994C>G	AB037742	AB037742	CCDS32600.1	CCDS32600.1	17q11.1	2006-03-01			2006-03-01				ENSG00000108256		ENSG00000108256				17634	17634	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609356	609356						12837692, 16407062	12837692, 16407062	Standard	Standard	NM_020772	NM_020772		Approved	KIAA1321, MGC117262, PIG1, 182-FIP, FIP-82, 82-FIP	uc002hdy.4	uc002hdy.4	Q7Z417	Q7Z417			ENST00000225388.4:c.84G>C	17.37:g.27620994C>G	ENSP00000225388:p.Gln28His		NUFIP2_ENST00000579665.1_Missense_Mutation_p.Q28H	p.Q28H	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)		1	142	-			28	His-rich.	A1L3A6|Q9P2M5	Missense_Mutation	SNP	ENST00000225388.4	37	c.84G>C	CCDS32600.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.859938	0.32884	.	.	ENSG00000108256	ENST00000225388	.	.	.	5.34	2.22	0.28083	5.34	2.22	0.28083	.	0.498628	0.17130	N	0.185844	T	0.23532	0.0569	N	0.08118	0	0.33716	D	0.616401	P;P	0.41041	0.553;0.736	B;B	0.41088	0.347;0.146	T	0.35226	-0.9797	9	0.87932	D	0	1.8404	7.7976	0.29156	0.0:0.7268:0.0:0.2732	.	28;28	Q7Z417;A1L3A6	NUFP2_HUMAN;.	H	28	.	ENSP00000225388:Q28H	Q	-	3	2	2	NUFIP2	24645120	24645120	0.854000	0.29725	1.000000	0.80357	0.983000	0.72400	-0.127000	0.10547	0.628000	0.30357	0.467000	0.42956	CAG		0.587	NUFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447015.2		-3.718739	-20	-20	39	39	NM_020772		3	6.678647	6.678647	48	0.058824	0	0	0	1	0	3	48	0.058824
ZSCAN16	80345	broad.mit.edu	37	6	28097340	28097340	+	Missense_Mutation	SNP	T	T	C			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr6:28097340T>C	ENST00000340487.4	+	4	808	c.659T>C	c.(658-660)aTt>aCt	p.I220T	ZSCAN16-AS1_ENST00000600652.1_RNA|ZSCAN16-AS1_ENST00000602810.1_RNA	NM_025231.1	NP_079507.1	Q9H4T2	ZSC16_HUMAN	zinc finger and SCAN domain containing 16	220					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						AAAGATATTATTGAAAATGAG	0.393																																						ENST00000340487.4											0			large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(658-660)aTt>aCt	zinc finger and SCAN domain containing 16						105.0	113.0	111.0					6																	28097340		2203	4300	6503	SO:0001583	missense	80345			viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28097340T>C	AK025844	AK025844	CCDS4644.1	CCDS4644.1	6p21.33	2013-01-08	2007-02-20	2007-02-20	2013-01-08	2007-02-20	2007-02-20	ENSG00000196812	ENSG00000196812	ENSG00000196812	ENSG00000196812		"""-"", ""Zinc fingers, C2H2-type"""	"""-"", ""Zinc fingers, C2H2-type"""	20813	20813	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""zinc finger protein 392"", ""zinc finger protein 435"""	ZNF392, ZNF435	"""zinc finger protein 392"", ""zinc finger protein 435"""	ZNF392, ZNF435				Standard	Standard	NM_025231	NM_025231		Approved	FLJ22191, dJ265C24.3	uc003nkm.3	uc003nkm.3	Q9H4T2	Q9H4T2	OTTHUMG00000014509	OTTHUMG00000014509	ENST00000340487.4:c.659T>C	6.37:g.28097340T>C	ENSP00000366527:p.Ile220Thr		ZSCAN16-AS1_ENST00000600652.1_RNA|ZSCAN16-AS1_ENST00000602810.1_RNA	p.I220T	NM_025231.1	NP_079507.1	Q9H4T2	ZSC16_HUMAN			4	808	+			220		Q9H6K2	Missense_Mutation	SNP	ENST00000340487.4	37	c.659T>C	CCDS4644.1	.	.	.	.	.	.	.	.	.	.	T	5.519	0.280633	0.10458	.	.	ENSG00000196812	ENST00000340487	T	0.05139	3.49	4.47	-7.48	0.01360	4.47	-7.48	0.01360	.	3.303230	0.01195	N	0.007427	T	0.00695	0.0023	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44345	-0.9334	10	0.20046	T	0.44	.	2.683	0.05100	0.2441:0.4299:0.1243:0.2017	.	220	Q9H4T2	ZSC16_HUMAN	T	220	ENSP00000366527:I220T	ENSP00000366527:I220T	I	+	2	0	0	ZSCAN16	28205319	28205319	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.713000	0.00816	-1.112000	0.02984	0.443000	0.29094	ATT		0.393	ZSCAN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040177.1		189.142633	-18	-18	43	43	NM_025231		55	189.821893	189.821893	38	0.591398	0	0	0	1	0	55	38	0.591398
BNC1	646	broad.mit.edu	37	15	83936923	83936923	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr15:83936923C>T	ENST00000345382.2	-	2	246	c.161G>A	c.(160-162)cGt>cAt	p.R54H	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.R47H	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	54					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						GTCACACTGACGGTGGTTTAT	0.438																																						ENST00000345382.2											0			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						c.(160-162)cGt>cAt	basonuclin 1						124.0	122.0	122.0					15																	83936923		2203	4300	6503	SO:0001583	missense	646			epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:83936923C>T	L03427	L03427	CCDS10324.1, CCDS73771.1	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594	ENSG00000169594	ENSG00000169594		"""Zinc fingers, C2H2-type"""	"""Zinc fingers, C2H2-type"""	1081	1081	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601930	601930	"""basonuclin"""	BNC	"""basonuclin"""	BNC		1332044	1332044	Standard	Standard	NM_001717	NM_001717		Approved	HsT19447	uc002bjt.1	uc002bjt.1	Q01954	Q01954	OTTHUMG00000147362	OTTHUMG00000147362	ENST00000345382.2:c.161G>A	15.37:g.83936923C>T	ENSP00000307041:p.Arg54His		BNC1_ENST00000569704.1_Missense_Mutation_p.R47H|RP11-382A20.4_ENST00000565495.1_RNA	p.R54H	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN			2	246	-			54		Q15840	Missense_Mutation	SNP	ENST00000345382.2	37	c.161G>A	CCDS10324.1	.	.	.	.	.	.	.	.	.	.	C	34	5.407197	0.96051	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.04809	3.55	5.16	5.16	0.70880	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.22437	0.0541	M	0.71581	2.175	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.00161	-1.1972	10	0.87932	D	0	-21.1094	18.8361	0.92164	0.0:1.0:0.0:0.0	.	47;54	F5GY04;Q01954	.;BNC1_HUMAN	H	54;47	ENSP00000307041:R54H	ENSP00000307041:R54H	R	-	2	0	0	BNC1	81727927	81727927	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	7.380000	0.79704	2.670000	0.90874	0.591000	0.81541	CGT		0.438	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1		101.602007	5	5	69	69	NM_001717		32	101.605506	101.605506	31	0.507937	0	0	0	1	0	32	31	0.507937
PPARA	5465	broad.mit.edu	37	22	46615723	46615723	+	Nonsense_Mutation	SNP	C	C	T			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr22:46615723C>T	ENST00000396000.2	+	6	788	c.523C>T	c.(523-525)Cga>Tga	p.R175*	PPARA_ENST00000434345.2_Intron|PPARA_ENST00000402126.1_Nonsense_Mutation_p.R175*|PPARA_ENST00000407236.1_Nonsense_Mutation_p.R175*|PPARA_ENST00000262735.5_Nonsense_Mutation_p.R175*			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	175					behavioral response to nicotine (GO:0035095)|cellular lipid metabolic process (GO:0044255)|circadian regulation of gene expression (GO:0032922)|enamel mineralization (GO:0070166)|epidermis development (GO:0008544)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|negative regulation of appetite (GO:0032099)|negative regulation of blood pressure (GO:0045776)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of glycolytic process (GO:0045820)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular ketone metabolic process by positive regulation of transcription from RNA polymerase II promoter (GO:0072366)|regulation of circadian rhythm (GO:0042752)|regulation of glycolytic by positive regulation of transcription from RNA polymerase II promoter (GO:0072363)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|lipid binding (GO:0008289)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Indomethacin(DB00328)	TCGTTTTGGACGAATGCCAAG	0.498																																						ENST00000396000.2											0			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(523-525)Cga>Tga	peroxisome proliferator-activated receptor alpha						74.0	70.0	71.0					22																	46615723		2203	4300	6503	SO:0001587	stop_gained	5465			fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding	g.chr22:46615723C>T	L02932	L02932	CCDS33669.1	CCDS33669.1	22q12-q13.1	2013-01-16	2006-10-17		2013-01-16	2006-10-17		ENSG00000186951	ENSG00000186951	ENSG00000186951	ENSG00000186951		"""Nuclear hormone receptors"""	"""Nuclear hormone receptors"""	9232	9232	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			170998	170998	"""peroxisome proliferative activated receptor, alpha"""	PPAR	"""peroxisome proliferative activated receptor, alpha"""	PPAR		7684926, 10591208	7684926, 10591208	Standard	Standard	XM_005261655	XM_005261655		Approved	hPPAR, NR1C1	uc003bgx.1	uc003bgx.1	Q07869	Q07869	OTTHUMG00000150443	OTTHUMG00000150443	ENST00000396000.2:c.523C>T	22.37:g.46615723C>T	ENSP00000379322:p.Arg175*		PPARA_ENST00000262735.5_Nonsense_Mutation_p.R175*|PPARA_ENST00000407236.1_Nonsense_Mutation_p.R175*|PPARA_ENST00000434345.2_Intron|PPARA_ENST00000402126.1_Nonsense_Mutation_p.R175*	p.R175*			Q07869	PPARA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	6	788	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	175		B0G0X3|Q16241|Q6I9S0|Q92486|Q92689|Q9Y3N1	Nonsense_Mutation	SNP	ENST00000396000.2	37	c.523C>T	CCDS33669.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.962509	0.92791	.	.	ENSG00000186951	ENST00000396000;ENST00000262735;ENST00000407236;ENST00000402126	.	.	.	5.51	2.0	0.26442	5.51	2.0	0.26442	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.8549	0.63519	0.527:0.4729:0.0:0.0	.	.	.	.	X	175	.	ENSP00000262735:R175X	R	+	1	2	2	PPARA	44994387	44994387	0.866000	0.29940	0.999000	0.59377	0.551000	0.35334	1.285000	0.33261	0.622000	0.30249	0.555000	0.69702	CGA		0.498	PPARA-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318129.3		21.016806	-13	-13	57	57	NM_001001928		10	26.461772	26.461772	46	0.178571	0	0	0	1	0	10	46	0.178571
SVEP1	79987	broad.mit.edu	37	9	113265410	113265410	+	Missense_Mutation	SNP	A	A	G			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr9:113265410A>G	ENST00000401783.2	-	6	1727	c.1391T>C	c.(1390-1392)gTt>gCt	p.V464A	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.V441A|SVEP1_ENST00000374461.1_Missense_Mutation_p.V441A|SVEP1_ENST00000302728.8_Missense_Mutation_p.V464A	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	464	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ATCACAGGCAACCAAACATGT	0.458																																						ENST00000401783.2											0			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(1390-1392)gTt>gCt	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1						162.0	160.0	161.0					9																	113265410		1980	4156	6136	SO:0001583	missense	79987			cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113265410A>G	AK027870	AK027870			9q31-q32	2008-02-05	2005-03-15	2005-03-17	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124	ENSG00000165124	ENSG00000165124				15985	15985	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611691	611691	"""chromosome 9 open reading frame 13"""	C9orf13	"""chromosome 9 open reading frame 13"""	C9orf13				Standard	Standard	NM_153366	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	uc010mtz.3	Q4LDE5	Q4LDE5	OTTHUMG00000020482	OTTHUMG00000020482	ENST00000401783.2:c.1391T>C	9.37:g.113265410A>G	ENSP00000384917:p.Val464Ala		SVEP1_ENST00000374461.1_Missense_Mutation_p.V441A|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.V464A|SVEP1_ENST00000374469.1_Missense_Mutation_p.V441A	p.V464A	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			6	1727	-			464	Sushi 2.	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.1391T>C	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	A	11.26	1.585590	0.28268	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19	5.71	5.71	0.89125	5.71	5.71	0.89125	Complement control module (2);Sushi/SCR/CCP (3);	0.125819	0.53938	D	0.000060	T	0.58206	0.2106	M	0.73319	2.225	0.34205	D	0.673659	B;B;B	0.32409	0.37;0.053;0.319	B;B;B	0.30316	0.114;0.029;0.069	T	0.68006	-0.5523	10	0.31617	T	0.26	.	10.3411	0.43879	0.9271:0.0:0.0729:0.0	.	464;464;464	E9PBN8;Q4LDE5;Q4LDE5-2	.;SVEP1_HUMAN;.	A	464;441;464;441	ENSP00000384917:V464A;ENSP00000363593:V441A;ENSP00000304118:V464A;ENSP00000363585:V441A	ENSP00000304118:V464A	V	-	2	0	0	SVEP1	112305231	112305231	1.000000	0.71417	0.583000	0.28640	0.202000	0.24057	3.282000	0.51693	2.171000	0.68590	0.533000	0.62120	GTT		0.458	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			138.948973	-28	-28	61	61			42	138.971328	138.971328	45	0.482759	0	0	0	1	0	42	45	0.482759
MEGF8	1954	broad.mit.edu	37	19	42839498	42839498	+	Silent	SNP	C	C	A	rs368954010		TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr19:42839498C>A	ENST00000251268.6	+	5	789	c.789C>A	c.(787-789)tcC>tcA	p.S263S	MEGF8_ENST00000334370.4_Silent_p.S263S	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	263					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				ACAACTTCTCCGCCAACACCT	0.632																																						ENST00000334370.4											0			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(787-789)tcC>tcA	multiple EGF-like-domains 8						83.0	91.0	89.0					19																	42839498		2010	4162	6172	SO:0001819	synonymous_variant	1954				integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42839498C>A	AB011541	AB011541	CCDS12604.2, CCDS62693.1	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429	ENSG00000105429	ENSG00000105429				3233	3233	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	"""HBV pre s2 binding protein 1"""	604267	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	9693030	Standard	Standard	NM_001410	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	uc002otm.5	Q7Z7M0	Q7Z7M0	OTTHUMG00000150342	OTTHUMG00000150342	ENST00000251268.6:c.789C>A	19.37:g.42839498C>A			MEGF8_ENST00000251268.6_Silent_p.S263S	p.S263S	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN			5	1424	+		Prostate(69;0.00682)	263		A8KAY0|O75097	Silent	SNP	ENST00000251268.6	37	c.789C>A																																																																																										0.632	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1		-6.118857	-15	-15	72	72	NM_001410		3	6.484327	6.484327	56	0.050847	1	0	0.00909568	1	0.00909568	3	56	0.050847
COQ2	27235	ucsc.edu	37	4	84193246	84193246	+	Missense_Mutation	SNP	C	C	A			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr4:84193246C>A	ENST00000311469.4	-	4	771	c.772G>T	c.(772-774)Gcc>Tcc	p.A258S	COQ2_ENST00000439031.2_Missense_Mutation_p.A221S|COQ2_ENST00000311461.7_Missense_Mutation_p.A208S|COQ2_ENST00000514935.1_5'Flank	NM_015697.7	NP_056512.5	Q96H96	COQ2_HUMAN	coenzyme Q2 4-hydroxybenzoate polyprenyltransferase	208					cell death (GO:0008219)|glycerol metabolic process (GO:0006071)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	4-hydroxybenzoate decaprenyltransferase activity (GO:0002083)|4-hydroxybenzoate nonaprenyltransferase activity (GO:0047293)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)	8		Hepatocellular(203;0.114)				TCACCCAAGGCTAGTTGAGGC	0.358																																																	0																	60.0	56.0	57.0					4																	84193246		1835	4084	5919	SO:0001583	missense	27235									CCDS47090.1, CCDS47090.2	CCDS47090.1, CCDS47090.2	4q21.23	2013-05-23	2013-05-23		2013-05-23	2013-05-23						2.5.1.39			25223	25223	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""4-hydroxybenzoate polyprenyltransferase"""	"""4-hydroxybenzoate polyprenyltransferase"""	609825	609825	"""coenzyme Q2 homolog, prenyltransferase (yeast)"""		"""coenzyme Q2 homolog, prenyltransferase (yeast)"""			15153069, 17332895	15153069, 17332895	Standard	Standard	NM_015697	NM_015697		Approved	CL640, FLJ26072	uc003hog.3	uc003hog.3	Q96H96	Q96H96			ENST00000311469.4:c.772G>T	4.37:g.84193246C>A	ENSP00000310873:p.Ala258Ser																	O95331|Q1JQ78|Q684R2	Missense_Mutation	SNP	ENST00000311469.4	37		CCDS47090.2	.	.	.	.	.	.	.	.	.	.	C	13.03	2.114113	0.37339	.	.	ENSG00000173085	ENST00000311469;ENST00000439031;ENST00000311461	D;D;D	0.92199	-2.99;-2.99;-2.99	6.03	5.19	0.71726	6.03	5.19	0.71726	.	0.232989	0.43747	D	0.000527	D	0.89846	0.6833	L	0.38175	1.15	0.31691	N	0.641841	B;B	0.33857	0.163;0.429	B;B	0.41510	0.334;0.359	D	0.91121	0.4930	10	0.72032	D	0.01	-15.5969	12.3835	0.55320	0.3051:0.6949:0.0:0.0	.	208;208	E2QRG7;Q96H96	.;COQ2_HUMAN	S	258;221;208	ENSP00000310873:A258S;ENSP00000409275:A221S;ENSP00000311835:A208S	ENSP00000311835:A208S	A	-	1	0	0	COQ2	84412270	84412270	1.000000	0.71417	0.560000	0.28344	0.242000	0.25591	1.962000	0.40442	1.543000	0.49345	0.655000	0.94253	GCC		0.358	COQ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363027.3			11	11	27	27	NM_015697		4			21							4	21	
SCARB1	949	broad.mit.edu	37	12	125298848	125298848	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr12:125298848C>T	ENST00000415380.2	-	4	655	c.530G>A	c.(529-531)gGt>gAt	p.G177D	SCARB1_ENST00000544327.1_Missense_Mutation_p.G123D|SCARB1_ENST00000376788.1_Missense_Mutation_p.G77D|SCARB1_ENST00000546215.1_Missense_Mutation_p.G177D|SCARB1_ENST00000541205.1_Missense_Mutation_p.G136D|SCARB1_ENST00000261693.6_Missense_Mutation_p.G177D|SCARB1_ENST00000540495.1_Missense_Mutation_p.G140D|SCARB1_ENST00000339570.5_Missense_Mutation_p.G177D|SCARB1_ENST00000535005.1_5'UTR			Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	177					adhesion of symbiont to host (GO:0044406)|androgen biosynthetic process (GO:0006702)|blood vessel endothelial cell migration (GO:0043534)|cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|detection of lipopolysaccharide (GO:0032497)|endothelial cell proliferation (GO:0001935)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|recognition of apoptotic cell (GO:0043654)|regulation of phagocytosis (GO:0050764)|regulation of phosphatidylcholine catabolic process (GO:0010899)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|viral process (GO:0016032)|wound healing (GO:0042060)	caveola (GO:0005901)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein binding (GO:0034185)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor activity (GO:0070506)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	CATGATCTCACCCACAGTGCG	0.522																																						ENST00000339570.5											0			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17						c.(529-531)gGt>gAt	scavenger receptor class B, member 1						159.0	133.0	142.0					12																	125298848		2203	4300	6503	SO:0001583	missense	949			adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity	g.chr12:125298848C>T	Z22555	Z22555	CCDS9259.1, CCDS45008.1	CCDS9259.1, CCDS45008.1	12q24.32	2008-08-05	2002-09-06	2002-09-06	2008-08-05	2002-09-06	2002-09-06	ENSG00000073060	ENSG00000073060	ENSG00000073060	ENSG00000073060				1664	1664	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601040	601040	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1"""	CD36L1	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1"""	CD36L1		7689561	7689561	Standard	Standard	NM_001082959	NM_001082959		Approved	SRB1, CLA-1, CLA1, SR-BI	uc001ugm.4	uc001ugm.4	Q8WTV0	Q8WTV0	OTTHUMG00000168544	OTTHUMG00000168544	ENST00000415380.2:c.530G>A	12.37:g.125298848C>T	ENSP00000414979:p.Gly177Asp		SCARB1_ENST00000546215.1_Missense_Mutation_p.G177D|SCARB1_ENST00000415380.2_Missense_Mutation_p.G177D|SCARB1_ENST00000261693.6_Missense_Mutation_p.G177D|SCARB1_ENST00000376788.1_Missense_Mutation_p.G77D|SCARB1_ENST00000540495.1_Missense_Mutation_p.G140D|SCARB1_ENST00000541205.1_Missense_Mutation_p.G136D|SCARB1_ENST00000544327.1_Missense_Mutation_p.G123D|SCARB1_ENST00000535005.1_5'UTR	p.G177D	NM_001082959.1	NP_001076428.1	Q8WTV0	SCRB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	4	726	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		177		F8W8N0|Q14016|Q52LZ5|Q6KFX4	Missense_Mutation	SNP	ENST00000415380.2	37	c.530G>A		.	.	.	.	.	.	.	.	.	.	C	2.713	-0.268399	0.05716	.	.	ENSG00000073060	ENST00000339570;ENST00000415380;ENST00000261693;ENST00000376788;ENST00000546215;ENST00000541205;ENST00000544327;ENST00000540495	T;T;T;T;T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61;-0.61;-0.61;-0.61;-0.61	5.25	2.32	0.28847	5.25	2.32	0.28847	.	0.326617	0.36932	N	0.002321	T	0.62684	0.2448	L	0.53249	1.67	0.26757	N	0.970079	B;B;B;B;B;B	0.30563	0.089;0.026;0.285;0.285;0.146;0.088	B;B;B;B;B;B	0.38880	0.132;0.093;0.284;0.284;0.128;0.052	T	0.50004	-0.8878	10	0.09084	T	0.74	-16.9015	7.61	0.28124	0.0:0.4624:0.3998:0.1378	.	136;177;177;177;177;177	B3KW46;B7ZKQ9;B4E3I1;Q8WTV0;F8W8N0;Q8WTV0-2	.;.;.;SCRB1_HUMAN;.;.	D	177;177;177;77;177;136;123;140	ENSP00000343795:G177D;ENSP00000414979:G177D;ENSP00000261693:G177D;ENSP00000365984:G77D;ENSP00000442862:G177D;ENSP00000446107:G136D;ENSP00000444851:G123D;ENSP00000443286:G140D	ENSP00000261693:G177D	G	-	2	0	0	SCARB1	123864801	123864801	0.025000	0.19082	0.009000	0.14445	0.035000	0.12851	1.869000	0.39519	0.189000	0.20188	-0.304000	0.09214	GGT		0.522	SCARB1-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000400165.1		-2.674349	-18	-18	34	34	NM_005505		5	10.303759	10.303759	64	0.072464	0	0	0	1	0	5	64	0.072464
C1QTNF3	114899	ucsc.edu	37	5	34035760	34035760	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr5:34035760C>T	ENST00000231338.7	-	2	275	c.188G>A	c.(187-189)gGc>gAc	p.G63D	RP11-1084J3.4_ENST00000382079.3_Missense_Mutation_p.G47D|C1QTNF3_ENST00000513065.1_5'Flank|C1QTNF3_ENST00000382065.3_Missense_Mutation_p.G136D	NM_030945.3	NP_112207.1	Q9BXJ4	C1QT3_HUMAN	C1q and tumor necrosis factor related protein 3	63	Collagen-like.				cellular triglyceride homeostasis (GO:0035356)|fat cell differentiation (GO:0045444)|negative regulation of gene expression (GO:0010629)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of monocyte chemotactic protein-1 production (GO:0071638)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of cytokine secretion (GO:0050715)|protein trimerization (GO:0070206)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17	all_lung(31;0.0207)					ACCTGGAATGCCAGGAGGGCC	0.522																																																	0																	39.0	42.0	41.0					5																	34035760		2203	4299	6502	SO:0001583	missense	114899							AF329837		CCDS3904.1, CCDS34141.1		5p13	2009-05-20						ENSG00000082196	ENSG00000082196						14326		protein-coding gene	gene with protein product			"""cartonectin"""		612045							18421280		Standard		NM_030945			Approved	CTRP3, Cors, Corcs, 2310005P21Rik, Cors-26	uc003jio.3		Q9BXJ4		OTTHUMG00000090735		ENST00000231338.7:c.188G>A	5.37:g.34035760C>T	ENSP00000231338:p.Gly63Asp																	Q0VAN4|Q542Y2|Q6MZN1|Q96KY1	Missense_Mutation	SNP	ENST00000231338.7	37		CCDS3904.1	.	.	.	.	.	.	.	.	.	.	C	31	5.096217	0.94197	.	.	ENSG00000082196	ENST00000382065;ENST00000231338	D;D	0.99353	-4.45;-5.77	5.91	5.91	0.95273	5.91	5.91	0.95273	.	.	.	.	.	D	0.99632	0.9865	H	0.94542	3.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98041	1.0382	9	0.87932	D	0	.	20.2983	0.98569	0.0:1.0:0.0:0.0	.	136;63	Q0VAN4;Q9BXJ4	.;C1QT3_HUMAN	D	136;63	ENSP00000371497:G136D;ENSP00000231338:G63D	ENSP00000231338:G63D	G	-	2	0	0	C1QTNF3	34071517	34071517	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.256000	0.65468	2.802000	0.96397	0.655000	0.94253	GGC		0.522	C1QTNF3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207469.1			-7	-7	35	35	NM_030945		4			32							4	32	
ADAM22	53616	broad.mit.edu	37	7	87792407	87792407	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr7:87792407G>A	ENST00000265727.7	+	23	2067	c.1988G>A	c.(1987-1989)tGc>tAc	p.C663Y	ADAM22_ENST00000398201.4_Missense_Mutation_p.C663Y|ADAM22_ENST00000398209.3_Missense_Mutation_p.C663Y|ADAM22_ENST00000398204.4_Missense_Mutation_p.C663Y|ADAM22_ENST00000315984.7_Missense_Mutation_p.C663Y			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	663	Cys-rich.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			CAAATGATGTGCTTAGAACAC	0.428																																						ENST00000398204.4											0			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53						c.(1987-1989)tGc>tAc	ADAM metallopeptidase domain 22						183.0	165.0	171.0					7																	87792407		1871	4109	5980	SO:0001583	missense	53616			cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding	g.chr7:87792407G>A	AB009671	AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277	ENSG00000008277	ENSG00000008277		"""ADAM metallopeptidase domain containing"""	"""ADAM metallopeptidase domain containing"""	201	201	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"""	"""metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"""	603709	603709	"""a disintegrin and metalloproteinase domain 22"""		"""a disintegrin and metalloproteinase domain 22"""			9693107, 10524237	9693107, 10524237	Standard	Standard	NM_021723	NM_021723		Approved	MDC2	uc003ujn.3	uc003ujn.3	Q9P0K1	Q9P0K1	OTTHUMG00000137417	OTTHUMG00000137417	ENST00000265727.7:c.1988G>A	7.37:g.87792407G>A	ENSP00000265727:p.Cys663Tyr		ADAM22_ENST00000398209.3_Missense_Mutation_p.C663Y|ADAM22_ENST00000265727.7_Missense_Mutation_p.C663Y|ADAM22_ENST00000398201.4_Missense_Mutation_p.C663Y|ADAM22_ENST00000315984.7_Missense_Mutation_p.C663Y	p.C663Y	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		23	2311	+	Esophageal squamous(14;0.00202)		663	Cys-rich.	O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Missense_Mutation	SNP	ENST00000265727.7	37	c.1988G>A	CCDS47637.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.699096	0.88830	.	.	ENSG00000008277	ENST00000398204;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203;ENST00000426930	T;T;T;T;T;T;T	0.72505	2.63;2.7;2.74;2.93;2.88;2.79;-0.66	5.84	5.84	0.93424	5.84	5.84	0.93424	ADAM, cysteine-rich (1);	0.000000	0.85682	D	0.000000	D	0.88474	0.6446	M	0.92459	3.31	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.999;0.998;1.0	D	0.90463	0.4447	10	0.87932	D	0	.	18.9075	0.92469	0.0:0.0:1.0:0.0	.	715;663;663;663	E9PBH5;Q9P0K1-5;Q9P0K1;Q9P0K1-2	.;.;ADA22_HUMAN;.	Y	663;663;663;663;663;630;21	ENSP00000381262:C663Y;ENSP00000381260:C663Y;ENSP00000265727:C663Y;ENSP00000315900:C663Y;ENSP00000381267:C663Y;ENSP00000381261:C630Y;ENSP00000396233:C21Y	ENSP00000265727:C663Y	C	+	2	0	0	ADAM22	87630343	87630343	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.482000	0.97935	2.756000	0.94617	0.655000	0.94253	TGC		0.428	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2		-26.359306	-7	-7	69	69	NM_021723		5	8.70834	8.708340	143	0.033784	0	0	0	1	0	5	143	0.033784
GAL3ST4	79690	broad.mit.edu	37	7	99758431	99758431	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr7:99758431C>T	ENST00000360039.4	-	4	973	c.581G>A	c.(580-582)gGc>gAc	p.G194D	GAL3ST4_ENST00000411994.1_Missense_Mutation_p.A93T|GAL3ST4_ENST00000423751.1_Missense_Mutation_p.A93T|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.G194D|C7orf43_ENST00000316937.3_5'Flank|C7orf43_ENST00000457641.1_5'Flank|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.G132D	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	194					cell-cell signaling (GO:0007267)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCTGTAGAAGCCTCGAGGATT	0.587																																						ENST00000360039.4											0			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(580-582)gGc>gAc	galactose-3-O-sulfotransferase 4						55.0	56.0	56.0					7																	99758431		2203	4300	6503	SO:0001583	missense	79690			cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	g.chr7:99758431C>T	AF316113	AF316113	CCDS5688.1	CCDS5688.1	7q22.1	2007-04-02			2007-04-02			ENSG00000197093	ENSG00000197093	ENSG00000197093	ENSG00000197093		"""Sulfotransferases, membrane-bound"""	"""Sulfotransferases, membrane-bound"""	24145	24145	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608235	608235						11333265	11333265	Standard	Standard	NM_024637	NM_024637		Approved	FLJ12116	uc003utu.3	uc003utu.3	Q96RP7	Q96RP7	OTTHUMG00000154885	OTTHUMG00000154885	ENST00000360039.4:c.581G>A	7.37:g.99758431C>T	ENSP00000353142:p.Gly194Asp		GAL3ST4_ENST00000411994.1_Missense_Mutation_p.A93T|GAL3ST4_ENST00000423751.1_Missense_Mutation_p.A93T|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.G194D|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.G132D	p.G194D	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN			4	973	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		194		A4D2A8|B4DWL8|D6W5U5|Q8N3P7|Q8WZ17|Q96E33|Q9HA78	Missense_Mutation	SNP	ENST00000360039.4	37	c.581G>A	CCDS5688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	7.792|7.792	0.711872|0.711872	0.15306|0.15306	.|.	.|.	ENSG00000197093|ENSG00000197093	ENST00000423751;ENST00000411994|ENST00000413800;ENST00000360039;ENST00000426974	.|D;D;D	.|0.99698	.|-6.44;-6.44;-6.44	4.82|4.82	3.95|3.95	0.45737|0.45737	4.82|4.82	3.95|3.95	0.45737|0.45737	.|.	.|0.684008	.|0.13797	.|U	.|0.362088	D|D	0.97832|0.97832	0.9288|0.9288	N|N	0.08118|0.08118	0|0	0.23023|0.23023	N|N	0.998412|0.998412	.|P;B	.|0.43701	.|0.815;0.055	.|P;B	.|0.46049	.|0.502;0.055	D|D	0.97380|0.97380	0.9982|0.9982	6|10	0.87932|0.15952	D|T	0|0.53	-4.4769|-4.4769	8.2281|8.2281	0.31582|0.31582	0.0:0.1732:0.6491:0.1777|0.0:0.1732:0.6491:0.1777	.|.	.|132;194	.|B4DWL8;Q96RP7	.|.;G3ST4_HUMAN	T|D	93|194;194;132	.|ENSP00000400451:G194D;ENSP00000353142:G194D;ENSP00000398304:G132D	ENSP00000414733:A93T|ENSP00000353142:G194D	A|G	-|-	1|2	0|0	0|0	GAL3ST4|GAL3ST4	99596367|99596367	99596367|99596367	0.000000|0.000000	0.05858|0.05858	1.000000|1.000000	0.80357|0.80357	0.955000|0.955000	0.61496|0.61496	0.141000|0.141000	0.16076|0.16076	1.276000|1.276000	0.44395|0.44395	-0.299000|-0.299000	0.09455|0.09455	GCT|GGC		0.587	GAL3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337495.2		77.442588	-10	-10	53	53	NM_024637		29	79.710304	79.710304	59	0.329545	0	0	0	1	0	29	59	0.329545
PSD	5662	broad.mit.edu	37	10	104176472	104176472	+	Missense_Mutation	SNP	C	C	A			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr10:104176472C>A	ENST00000020673.5	-	2	850	c.324G>T	c.(322-324)aaG>aaT	p.K108N	PSD_ENST00000406432.1_Missense_Mutation_p.K108N|PSD_ENST00000492902.2_5'UTR	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	108	Pro-rich.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		TCACACTGGCCTTCTCCACAA	0.662																																						ENST00000020673.5											0			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(322-324)aaG>aaT	pleckstrin and Sec7 domain containing						33.0	39.0	37.0					10																	104176472		2202	4299	6501	SO:0001583	missense	5662			regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr10:104176472C>A	X99688	X99688	CCDS31272.1, CCDS73187.1	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915	ENSG00000059915	ENSG00000059915		"""Pleckstrin homology (PH) domain containing"""	"""Pleckstrin homology (PH) domain containing"""	9507	9507	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602327	602327	"""pleckstrin and Sec7 domain protein"""		"""pleckstrin and Sec7 domain protein"""			9417912	9417912	Standard	Standard	NM_002779	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	uc009xxd.2	A5PKW4	A5PKW4	OTTHUMG00000018954	OTTHUMG00000018954	ENST00000020673.5:c.324G>T	10.37:g.104176472C>A	ENSP00000020673:p.Lys108Asn		PSD_ENST00000492902.2_5'UTR|PSD_ENST00000406432.1_Missense_Mutation_p.K108N	p.K108N	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN		Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)	2	850	-			108	Pro-rich.	B1AKX7|D3DR87|Q15673|Q8IVG0	Missense_Mutation	SNP	ENST00000020673.5	37	c.324G>T	CCDS31272.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.695155	0.48202	.	.	ENSG00000059915	ENST00000020673;ENST00000406432	T;T	0.26660	1.72;1.72	5.08	4.18	0.49190	5.08	4.18	0.49190	.	0.077607	0.49916	D	0.000139	T	0.27629	0.0679	N	0.08118	0	0.31762	N	0.63321	D	0.71674	0.998	D	0.78314	0.991	T	0.28839	-1.0031	10	0.59425	D	0.04	.	9.5954	0.39571	0.0:0.8383:0.0:0.1617	.	108	A5PKW4	PSD1_HUMAN	N	108	ENSP00000020673:K108N;ENSP00000384830:K108N	ENSP00000020673:K108N	K	-	3	2	2	PSD	104166462	104166462	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.467000	0.45093	1.153000	0.42468	-0.258000	0.10820	AAG		0.662	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2		-5.122257	-17	-17	55	55			3	6.37811	6.378110	52	0.054545	1	0	2.56e-06	1	2.88e-06	3	52	0.054545
NOC4L	79050	broad.mit.edu	37	12	132633397	132633397	+	Missense_Mutation	SNP	G	G	T	rs529616528	byFrequency	TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr12:132633397G>T	ENST00000330579.1	+	9	899	c.858G>T	c.(856-858)caG>caT	p.Q286H	NOC4L_ENST00000535343.1_3'UTR|NOC4L_ENST00000538784.1_5'Flank	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	286					rRNA processing (GO:0006364)	integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		AGCTGGCGCAGCCCACGCTCA	0.692																																						ENST00000330579.1											0			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14						c.(856-858)caG>caT	nucleolar complex associated 4 homolog (S. cerevisiae)						29.0	25.0	26.0					12																	132633397		2191	4288	6479	SO:0001583	missense	79050			rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding	g.chr12:132633397G>T			CCDS9277.1	CCDS9277.1	12q24.33	2011-08-12			2011-08-12			ENSG00000184967	ENSG00000184967	ENSG00000184967	ENSG00000184967				28461	28461	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			612819	612819						12446671	12446671	Standard	Standard	NM_024078	NM_024078		Approved	MGC3162, NET49, UTP19	uc001ujz.1	uc001ujz.1	Q9BVI4	Q9BVI4	OTTHUMG00000168260	OTTHUMG00000168260	ENST00000330579.1:c.858G>T	12.37:g.132633397G>T	ENSP00000328854:p.Gln286His		NOC4L_ENST00000535343.1_3'UTR	p.Q286H	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)	9	899	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		286		Q8N2S5|Q96I14	Missense_Mutation	SNP	ENST00000330579.1	37	c.858G>T	CCDS9277.1	.	.	.	.	.	.	.	.	.	.	g	9.673	1.147215	0.21288	.	.	ENSG00000184967	ENST00000330579;ENST00000541954	T;T	0.34275	1.37;1.37	5.44	-0.424	0.12321	5.44	-0.424	0.12321	.	0.341523	0.32218	N	0.006404	T	0.32224	0.0822	M	0.71581	2.175	0.80722	D	1	B	0.25441	0.126	B	0.27380	0.079	T	0.08513	-1.0718	10	0.59425	D	0.04	-32.1374	5.6594	0.17660	0.4295:0.1315:0.439:0.0	.	286	Q9BVI4	NOC4L_HUMAN	H	286;253	ENSP00000328854:Q286H;ENSP00000438255:Q253H	ENSP00000328854:Q286H	Q	+	3	2	2	NOC4L	131199350	131199350	0.997000	0.39634	0.985000	0.45067	0.006000	0.05464	0.427000	0.21379	-0.116000	0.11893	-0.330000	0.08379	CAG		0.692	NOC4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398999.1		8.123757	6	6	26	26	NM_024078		3	8.47962	8.479620	7	0.300000	1	0	2.56e-06	1	2.88e-06	3	7	0.3
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	GNA11_ENST00000586180.1_3'UTR|AC005262.2_ENST00000585980.1_RNA|AC005262.3_ENST00000587701.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma																																	ENST00000078429.4		Dom	yes		19	19p13.3	2767	"""guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"""		E	82	Substitution - Missense(82)	eye(69)|skin(8)|meninges(5)	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(625-627)cAg>cTg	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)						104.0	89.0	94.0					19																	3118942		2203	4300	6503	SO:0001583	missense	2767			activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3118942A>T	AF493900	AF493900	CCDS12103.1	CCDS12103.1	19p13.3	2014-02-04			2014-02-04			ENSG00000088256	ENSG00000088256	ENSG00000088256	ENSG00000088256				4379	4379	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			139313	139313	"""hypocalciuric hypercalcemia 2"""	HHC2	"""hypocalciuric hypercalcemia 2"""	HHC2		1302014, 23802516	1302014, 23802516	Standard	Standard	NM_002067	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	uc002lxd.3	P29992	P29992	OTTHUMG00000180631	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu		GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	p.Q209L	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	5	868	+		Hepatocellular(1079;0.137)	209		O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.626A>T	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	0	GNA11	3069942	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG		0.612	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2		77.140489	-26	-26	55	55	NM_002067		26	77.372985	77.372985	34	0.433333	0	0	0	1	0	26	34	0.433333
CPEB1	64506	broad.mit.edu	37	15	83218265	83218265	+	Silent	SNP	T	T	C	rs368407272		TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr15:83218265T>C	ENST00000562019.1	-	9	1675	c.1359A>G	c.(1357-1359)ctA>ctG	p.L453L	RP11-152F13.10_ENST00000562833.1_Missense_Mutation_p.Y183C|CPEB1_ENST00000568128.1_Silent_p.L448L|CPEB1_ENST00000450751.2_Silent_p.L373L|CPEB1_ENST00000563800.1_Silent_p.L475L|CPEB1_ENST00000398592.2_Silent_p.L222L|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000568757.1_Silent_p.L373L|CPEB1_ENST00000261723.6_Silent_p.L451L|CPEB1_ENST00000423133.2_Silent_p.L373L|CPEB1_ENST00000398591.2_Silent_p.L378L|CPEB1_ENST00000564522.1_Silent_p.L373L			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	453	Necessary for stress granule assembly and correct localization in dcp1 bodies.|RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to amino acid stimulus (GO:0071230)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|mRNA processing (GO:0006397)|negative regulation of cytoplasmic translation (GO:2000766)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			CTCCACCAAATAGGTCGTTCA	0.547													T|||	1	0.000199681	0.0008	0.0	5008	,	,		21542	0.0		0.0	False		,,,				2504	0.0					ENST00000562833.1											0										c.(547-549)tAt>tGt		T	,,,	0,4074		0,0,2037	83.0	82.0	83.0		1134,1119,1119,1344	-7.9	1.0	15		83	1,8359		0,1,4179	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CPEB1	NM_001079533.1,NM_001079534.1,NM_001079535.1,NM_030594.3	,,,	0,1,6216	CC,CT,TT		0.012,0.0,0.0080	,,,	378/492,373/487,373/487,448/562	83218265	1,12433	2037	4180	6217	SO:0001819	synonymous_variant	0						g.chr15:83218265T>C	AF329402		CCDS42072.1, CCDS45329.1, CCDS45330.1, CCDS42072.2, CCDS45329.2, CCDS45330.2		15q25.1	2008-02-05							ENSG00000214575						21744		protein-coding gene	gene with protein product					607342							11223249		Standard		NM_001079533			Approved	FLJ13203, CPEB	uc002biv.3		Q9BZB8				ENST00000562019.1:c.1359A>G	15.37:g.83218265T>C			CPEB1_ENST00000568128.1_Silent_p.L448L|CPEB1_ENST00000450751.2_Silent_p.L373L|CPEB1_ENST00000562019.1_Silent_p.L453L|CPEB1_ENST00000563800.1_Silent_p.L475L|CPEB1_ENST00000261723.6_Silent_p.L451L|CPEB1_ENST00000398591.2_Silent_p.L378L|CPEB1_ENST00000564522.1_Silent_p.L373L|CPEB1_ENST00000398592.2_Silent_p.L222L|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000423133.2_Silent_p.L373L|CPEB1_ENST00000568757.1_Silent_p.L373L	p.Y183C							5	547	-					B7Z6C6|Q86W46|Q8IV41|Q9BZB7|Q9H8V5	Missense_Mutation	SNP	ENST00000562019.1	37	c.548A>G																																																																																										0.547	CPEB1-006	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000421102.1		52.261299	-11	-11	44	44	NM_030594		17	53.392024	53.392024	33	0.340000	0	0	0	1	0	17	33	0.34
GPR25	2848	broad.mit.edu	37	1	200842836	200842836	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr1:200842836G>A	ENST00000304244.2	+	1	754	c.671G>A	c.(670-672)cGc>cAc	p.R224H		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	224					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						TGCTACTGCCGCATCTCGCGC	0.687																																						ENST00000304244.2											0			large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						c.(670-672)cGc>cAc	G protein-coupled receptor 25						23.0	26.0	25.0					1																	200842836		2186	4282	6468	SO:0001583	missense	2848				integral to plasma membrane		g.chr1:200842836G>A	U91939	U91939	CCDS1405.1	CCDS1405.1	1q32.1	2012-08-21			2012-08-21			ENSG00000170128	ENSG00000170128	ENSG00000170128	ENSG00000170128		"""GPCR / Class A : Orphans"""	"""GPCR / Class A : Orphans"""	4480	4480	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602174	602174						9020062	9020062	Standard	Standard	NM_005298	NM_005298		Approved		uc001gvn.2	uc001gvn.2	O00155	O00155	OTTHUMG00000035788	OTTHUMG00000035788	ENST00000304244.2:c.671G>A	1.37:g.200842836G>A	ENSP00000301917:p.Arg224His			p.R224H	NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN			1	754	+			224		A0AVJ5	Missense_Mutation	SNP	ENST00000304244.2	37	c.671G>A	CCDS1405.1	.	.	.	.	.	.	.	.	.	.	G	19.03	3.747107	0.69418	.	.	ENSG00000170128	ENST00000304244	T	0.39056	1.1	4.52	2.3	0.28687	4.52	2.3	0.28687	GPCR, rhodopsin-like superfamily (1);	0.281727	0.18942	U	0.126908	T	0.49218	0.1544	L	0.48260	1.515	0.29588	N	0.848649	D	0.69078	0.997	D	0.63488	0.915	T	0.41662	-0.9496	10	0.49607	T	0.09	-5.7237	7.491	0.27462	0.0:0.1191:0.4687:0.4122	.	224	O00155	GPR25_HUMAN	H	224	ENSP00000301917:R224H	ENSP00000301917:R224H	R	+	2	0	0	GPR25	199109459	199109459	0.000000	0.05858	0.925000	0.36789	0.986000	0.74619	-0.708000	0.05035	0.776000	0.33473	0.462000	0.41574	CGC		0.687	GPR25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087056.1		-5.917591	-1	-1	42	42	NM_005298		3	6.407626	6.407626	55	0.051724	0	0	0	1	0	3	55	0.051724
PRDM11	56981	broad.mit.edu	37	11	45204514	45204514	+	Missense_Mutation	SNP	C	C	G			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr11:45204514C>G	ENST00000530656.1	+	4	428	c.428C>G	c.(427-429)gCg>gGg	p.A143G	PRDM11_ENST00000424263.2_Missense_Mutation_p.A109G|PRDM11_ENST00000528980.1_3'UTR|PRDM11_ENST00000263765.4_Missense_Mutation_p.A143G			Q9NQV5	PRD11_HUMAN	PR domain containing 11	143							methyltransferase activity (GO:0008168)			endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						CCAGACCGGGCGGCGCTCACC	0.602																																					NSCLC(118;1511 1736 6472 36603 43224)	ENST00000263765.4											0			endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						c.(427-429)gCg>gGg	PR domain containing 11						71.0	70.0	70.0					11																	45204514		2203	4299	6502	SO:0001583	missense	56981						g.chr11:45204514C>G	AF275818	AF275818	CCDS58130.1, CCDS73277.1	CCDS58130.1, CCDS73277.1	11p11	2008-07-21			2008-07-21			ENSG00000019485	ENSG00000019485	ENSG00000019485	ENSG00000019485				13996	13996	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""PR-domain containing protein 11"""	"""PR-domain containing protein 11"""										Standard	Standard	NM_001256695	NM_001256695		Approved	PFM8	uc031qab.1	uc031qab.1	Q9NQV5	Q9NQV5	OTTHUMG00000166478	OTTHUMG00000166478	ENST00000530656.1:c.428C>G	11.37:g.45204514C>G	ENSP00000435976:p.Ala143Gly		PRDM11_ENST00000528980.1_3'UTR|PRDM11_ENST00000424263.2_Missense_Mutation_p.A109G|PRDM11_ENST00000530656.1_Missense_Mutation_p.A143G	p.A143G			Q9NQV5	PRD11_HUMAN			5	677	+			143		Q8N9F1	Missense_Mutation	SNP	ENST00000530656.1	37	c.428C>G		.	.	.	.	.	.	.	.	.	.	C	25.6	4.658334	0.88154	.	.	ENSG00000019485	ENST00000263765;ENST00000530656;ENST00000526442;ENST00000424263	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	5.13	5.13	0.70059	5.13	5.13	0.70059	.	0.000000	0.64402	D	0.000009	T	0.75554	0.3865	M	0.82716	2.605	0.53005	D	0.999969	D	0.76494	0.999	D	0.73708	0.981	T	0.80044	-0.1547	10	0.87932	D	0	-26.7203	18.5796	0.91166	0.0:1.0:0.0:0.0	.	143	Q9NQV5	PRD11_HUMAN	G	143;143;109;109	ENSP00000263765:A143G;ENSP00000435976:A143G;ENSP00000431898:A109G;ENSP00000394314:A109G	ENSP00000263765:A143G	A	+	2	0	0	PRDM11	45161090	45161090	1.000000	0.71417	0.979000	0.43373	0.858000	0.48976	6.883000	0.75595	2.388000	0.81334	0.484000	0.47621	GCG		0.602	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000389928.1		83.821024	-23	-23	30	30	NM_020229		27	83.912931	83.912931	32	0.457627	0	0	0	1	0	27	32	0.457627
ROBO2	6092	broad.mit.edu	37	3	77542506	77542506	+	Missense_Mutation	SNP	A	A	G			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr3:77542506A>G	ENST00000461745.1	+	5	1679	c.779A>G	c.(778-780)aAg>aGg	p.K260R	ROBO2_ENST00000332191.8_Missense_Mutation_p.K260R|ROBO2_ENST00000487694.3_Missense_Mutation_p.K276R	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	260	Ig-like C2-type 3.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AGGTGGAAAAAGGATGATGCA	0.408																																						ENST00000461745.1											0			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(778-780)aAg>aGg	roundabout, axon guidance receptor, homolog 2 (Drosophila)						111.0	104.0	106.0					3																	77542506		1916	4151	6067	SO:0001583	missense	6092			apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77542506A>G	AF040991	AF040991	CCDS43109.1, CCDS54609.1	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008	ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	10250	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602431	602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""		"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	9458045	Standard	Standard	NM_002942	NM_002942		Approved	KIAA1568	uc003dpy.4	uc003dpy.4	Q9HCK4	Q9HCK4	OTTHUMG00000158935	OTTHUMG00000158935	ENST00000461745.1:c.779A>G	3.37:g.77542506A>G	ENSP00000417164:p.Lys260Arg		ROBO2_ENST00000332191.8_Missense_Mutation_p.K260R|ROBO2_ENST00000487694.3_Missense_Mutation_p.K276R	p.K260R	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	5	1679	+			260	Ig-like C2-type 3.	O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.779A>G	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.423889	0.83667	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191	T;T;T	0.74421	-0.84;-0.84;-0.84	5.88	5.88	0.94601	5.88	5.88	0.94601	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.45867	U	0.000330	T	0.67524	0.2902	N	0.21508	0.67	0.41624	D	0.988983	B;P;B	0.37636	0.444;0.603;0.444	B;B;B	0.43018	0.405;0.283;0.405	T	0.69895	-0.5021	9	0.25106	T	0.35	.	16.2851	0.82714	1.0:0.0:0.0:0.0	.	276;260;260	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	R	276;276;276;260;260	ENSP00000417335:K276R;ENSP00000417164:K260R;ENSP00000327536:K260R	ENSP00000327536:K260R	K	+	2	0	0	ROBO2	77625196	77625196	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	9.271000	0.95698	2.252000	0.74401	0.402000	0.26972	AAG		0.408	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2		-3.719012	-30	-30	38	38	XM_031246		3	6.952415	6.952415	49	0.057692	0	0	0	1	0	3	49	0.057692
DR1	1810	broad.mit.edu	37	1	93812222	93812222	+	Missense_Mutation	SNP	A	A	G			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr1:93812222A>G	ENST00000370272.4	+	1	778	c.20A>G	c.(19-21)aAc>aGc	p.N7S	RP4-717I23.3_ENST00000413606.1_RNA|DR1_ENST00000370267.1_Missense_Mutation_p.N7S|RP4-717I23.3_ENST00000451302.2_RNA	NM_001938.2	NP_001929.1	Q01658	NC2B_HUMAN	down-regulator of transcription 1, TBP-binding (negative cofactor 2)	7					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(3)|large_intestine(1)	4		all_lung(203;0.00252)|Lung NSC(277;0.011)|Melanoma(281;0.155)		all cancers(265;0.0032)|GBM - Glioblastoma multiforme(16;0.0165)|Epithelial(280;0.0977)		TCGTCTGGCAACGATGATGAT	0.502																																						ENST00000370272.4											0			endometrium(3)|large_intestine(1)	4						c.(19-21)aAc>aGc	down-regulator of transcription 1, TBP-binding (negative cofactor 2)						75.0	79.0	78.0					1																	93812222		2203	4300	6503	SO:0001583	missense	1810			histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex	sequence-specific DNA binding|TBP-class protein binding|transcription corepressor activity	g.chr1:93812222A>G	M97388	M97388	CCDS744.1	CCDS744.1	1p22.1	2008-02-05			2008-02-05			ENSG00000117505	ENSG00000117505	ENSG00000117505	ENSG00000117505				3017	3017	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601482	601482						1339312, 9040789	1339312, 9040789	Standard	Standard	NM_001938	NM_001938		Approved	NC2, NC2-BETA	uc001dpu.3	uc001dpu.3	Q01658	Q01658	OTTHUMG00000010862	OTTHUMG00000010862	ENST00000370272.4:c.20A>G	1.37:g.93812222A>G	ENSP00000359295:p.Asn7Ser		DR1_ENST00000370267.1_Missense_Mutation_p.N7S	p.N7S	NM_001938.2	NP_001929.1	Q01658	NC2B_HUMAN		all cancers(265;0.0032)|GBM - Glioblastoma multiforme(16;0.0165)|Epithelial(280;0.0977)	1	778	+		all_lung(203;0.00252)|Lung NSC(277;0.011)|Melanoma(281;0.155)				Missense_Mutation	SNP	ENST00000370272.4	37	c.20A>G	CCDS744.1	.	.	.	.	.	.	.	.	.	.	A	12.02	1.811357	0.32053	.	.	ENSG00000117505	ENST00000370272;ENST00000370267	T;T	0.29917	1.55;1.55	5.76	4.64	0.57946	5.76	4.64	0.57946	Histone-fold (1);	0.000000	0.85682	D	0.000000	T	0.06690	0.0171	N	0.10809	0.05	0.53688	D	0.999975	B	0.29627	0.252	B	0.25405	0.06	T	0.17048	-1.0382	10	0.25751	T	0.34	-9.8939	11.6549	0.51313	0.9311:0.0:0.0689:0.0	.	7	Q01658	NC2B_HUMAN	S	7	ENSP00000359295:N7S;ENSP00000359290:N7S	ENSP00000359290:N7S	N	+	2	0	0	DR1	93584810	93584810	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.053000	0.76641	1.014000	0.39417	-0.250000	0.11733	AAC		0.502	DR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029976.2		175.876995	-29	-29	113	113	NM_001938		53	175.876995	175.876995	53	0.500000	0	0	0	1	0	53	53	0.5
USP49	25862	broad.mit.edu	37	6	41773545	41773545	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr6:41773545G>A	ENST00000394253.3	-	3	1506	c.1177C>T	c.(1177-1179)Cgc>Tgc	p.R393C	USP49_ENST00000373009.3_Missense_Mutation_p.R393C|USP49_ENST00000373010.1_Missense_Mutation_p.R393C|USP49_ENST00000297229.2_Missense_Mutation_p.R393C|USP49_ENST00000373006.1_Missense_Mutation_p.R393C			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	393	USP.				histone H2B conserved C-terminal lysine deubiquitination (GO:0035616)|mRNA splicing, via spliceosome (GO:0000398)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCGTAGCCGCGGAAGGCAGGG	0.612																																						ENST00000394253.3											0			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23						c.(1177-1179)Cgc>Tgc	ubiquitin specific peptidase 49						56.0	52.0	53.0					6																	41773545		2203	4300	6503	SO:0001583	missense	25862			ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chr6:41773545G>A	AJ586139	AJ586139	CCDS4861.1, CCDS69111.1	CCDS4861.1, CCDS69111.1	6p12.1	2008-02-05	2005-08-08		2008-02-05	2005-08-08		ENSG00000164663	ENSG00000164663	ENSG00000164663	ENSG00000164663		"""Ubiquitin-specific peptidases"""	"""Ubiquitin-specific peptidases"""	20078	20078	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""ubiquitin specific protease 49"""		"""ubiquitin specific protease 49"""			14715245	14715245	Standard	Standard	NM_018561	NM_018561		Approved	MGC20741	uc003ori.3	uc003ori.3	Q70CQ1	Q70CQ1	OTTHUMG00000014688	OTTHUMG00000014688	ENST00000394253.3:c.1177C>T	6.37:g.41773545G>A	ENSP00000377797:p.Arg393Cys		USP49_ENST00000373010.1_Missense_Mutation_p.R393C|USP49_ENST00000373009.3_Missense_Mutation_p.R393C|USP49_ENST00000297229.2_Missense_Mutation_p.R393C|USP49_ENST00000373006.1_Missense_Mutation_p.R393C	p.R393C			Q70CQ1	UBP49_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		3	1506	-	Ovarian(28;0.0919)|Colorectal(47;0.121)		393		Q5T3D9|Q5T3E0|Q96CK4	Missense_Mutation	SNP	ENST00000394253.3	37	c.1177C>T		.	.	.	.	.	.	.	.	.	.	G	21.9	4.219357	0.79464	.	.	ENSG00000164663	ENST00000394253;ENST00000373010;ENST00000373009;ENST00000373006;ENST00000297229	T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48	5.61	5.61	0.85477	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.59838	0.2223	M	0.90145	3.09	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.68398	-0.5419	10	0.87932	D	0	-11.4993	19.2213	0.93797	0.0:0.0:1.0:0.0	.	393	Q70CQ1-2	.	C	393	ENSP00000377797:R393C;ENSP00000362101:R393C;ENSP00000362100:R393C;ENSP00000362097:R393C;ENSP00000297229:R393C	ENSP00000297229:R393C	R	-	1	0	0	USP49	41881523	41881523	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	5.657000	0.67996	2.631000	0.89168	0.655000	0.94253	CGC		0.612	USP49-007	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000316513.3		-5.414067	9	9	44	44	NM_018561		3	6.354609	6.354609	53	0.053571	0	0	0	1	0	3	53	0.053571
PLCB2	5330	broad.mit.edu	37	15	40591139	40591139	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr15:40591139G>A	ENST00000260402.3	-	9	959	c.710C>T	c.(709-711)aCg>aTg	p.T237M	PLCB2-AS1_ENST00000559520.1_RNA|PLCB2_ENST00000557821.1_Missense_Mutation_p.T237M|PLCB2_ENST00000456256.2_Missense_Mutation_p.T237M	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	237					activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GTGCTCCTTCGTCATGTAGGG	0.577																																						ENST00000260402.3											0			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39						c.(709-711)aCg>aTg	phospholipase C, beta 2						93.0	97.0	96.0					15																	40591139		2031	4183	6214	SO:0001583	missense	5330			activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr15:40591139G>A			CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			2012-01-23			ENSG00000137841	ENSG00000137841	ENSG00000137841	ENSG00000137841	3.1.4.11			9055	9055	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604114	604114						1644792, 9925923	1644792, 9925923	Standard	Standard	XM_005254448	XM_005254448		Approved	FLJ38135	uc001zld.3	uc001zld.3	Q00722	Q00722	OTTHUMG00000172412	OTTHUMG00000172412	ENST00000260402.3:c.710C>T	15.37:g.40591139G>A	ENSP00000260402:p.Thr237Met		PLCB2_ENST00000456256.2_Missense_Mutation_p.T237M|PLCB2_ENST00000557821.1_Missense_Mutation_p.T237M	p.T237M	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)	9	959	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	237		A8K6J2|B9EGH5	Missense_Mutation	SNP	ENST00000260402.3	37	c.710C>T	CCDS42020.1	.	.	.	.	.	.	.	.	.	.	G	18.44	3.624573	0.66901	.	.	ENSG00000137841	ENST00000260402;ENST00000456256	T;T	0.54279	0.58;0.58	3.96	3.96	0.45880	3.96	3.96	0.45880	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.69655	0.3135	M	0.80982	2.52	0.80722	D	1	D;D;D	0.69078	0.997;0.985;0.994	P;P;P	0.58172	0.824;0.777;0.834	T	0.77281	-0.2646	10	0.87932	D	0	.	16.5705	0.84611	0.0:0.0:1.0:0.0	.	237;237;237	B9EGH5;Q00722-2;Q00722	.;.;PLCB2_HUMAN	M	237	ENSP00000260402:T237M;ENSP00000411991:T237M	ENSP00000260402:T237M	T	-	2	0	0	PLCB2	38378431	38378431	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.679000	0.84048	2.198000	0.70561	0.561000	0.74099	ACG		0.577	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1		119.342937	-16	-16	90	90			38	119.47124	119.471240	45	0.457831	0	0	0	1	0	38	45	0.457831
ZNF234	10780	broad.mit.edu	37	19	44654608	44654608	+	Frame_Shift_Del	DEL	A	A	-			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr19:44654608delA	ENST00000426739.2	+	5	443	c.185delA	c.(184-186)gaafs	p.E62fs	ZNF234_ENST00000592437.1_Frame_Shift_Del_p.E62fs	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	62	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				TTAGAAAAGGAAAAAAAGCTT	0.368																																						ENST00000426739.2											0			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23						c.(184-186)gaafs	zinc finger protein 234						63.0	54.0	57.0					19																	44654608		1879	4112	5991	SO:0001589	frameshift_variant	10780			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44654608delA	X78927	X78927	CCDS46101.1	CCDS46101.1	19q13	2013-01-08			2013-01-08				ENSG00000263002		ENSG00000263002		"""Zinc fingers, C2H2-type"", ""-"""	"""Zinc fingers, C2H2-type"", ""-"""	13027	13027	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604750	604750		ZNF269		ZNF269		7865130	7865130	Standard	Standard	NM_006630	NM_006630		Approved	HZF4	uc002oyl.4	uc002oyl.4	Q14588	Q14588			ENST00000426739.2:c.185delA	19.37:g.44654608delA	ENSP00000400878:p.Glu62fs		ZNF234_ENST00000592437.1_Frame_Shift_Del_p.E62fs	p.E62fs	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN			5	443	+		Prostate(69;0.0435)	62	KRAB.	A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Frame_Shift_Del	DEL	ENST00000426739.2	37	c.185delA	CCDS46101.1																																																																																									0.368	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460586.2	.	.	-10	-10	4	4			2			4	0.33						2	4	0.33
PHF7	51533	broad.mit.edu	37	3	52442547	52442579	+	5'Flank	DEL	CACCAAGGTAGAGACCTTTCGCCGGGACCGGCG	CACCAAGGTAGAGACCTTTCGCCGGGACCGGCG	-	rs199608453		TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr3:52442547_52442579delCACCAAGGTAGAGACCTTTCGCCGGGACCGGCG	ENST00000327906.3	+	0	0				PHF7_ENST00000347025.2_5'Flank|BAP1_ENST00000460680.1_In_Frame_Del_p.RRSRRKVSTLV56del|BAP1_ENST00000296288.5_In_Frame_Del_p.RRSRRKVSTLV56del	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.S63C(2)|p.R60*(1)|p.L65fs*7(1)|p.S58fs*14(1)|p.R60Q(1)|p.S58fs*8(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)		ACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATC	0.506																																						ENST00000460680.1											7	Substitution - Missense(3)|Deletion - Frameshift(3)|Substitution - Nonsense(1)	eye(2)|pleura(2)|large_intestine(1)|skin(1)|kidney(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.(166-198)cgccggtcccggcgaaaggtctctaccttggtgdel	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.chr3:52442547_52442579delCACCAAGGTAGAGACCTTTCGCCGGGACCGGCG	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.52442547_52442579delCACCAAGGTAGAGACCTTTCGCCGGGACCGGCG	Exception_encountered		PHF7_ENST00000347025.2_5'Flank|PHF7_ENST00000327906.3_5'Flank|BAP1_ENST00000296288.5_In_Frame_Del_p.RRSRRKVSTLV56del	p.RRSRRKVSTLV56del	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)	4	637_669	-			0	Interaction with HIP2.	K4DI82	In_Frame_Del	DEL	ENST00000327906.3		c.166_198delCGCCGGTCCCGGCGAAAGGTCTCTACCTTGGTG	CCDS2854.1																																																																																									0.506	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1	5.320000e+00	3.920000e+01	4	4	17	17	NM_016483		10			0	1						10	0	1.0
