#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
TULP2	7288	broad.mit.edu	37	19	49387078	49387078	+	Missense_Mutation	SNP	C	C	T			TCGA-J8-A3YF-01A-12D-A23M-08	TCGA-J8-A3YF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ef9ead-6e4c-4ba0-ad48-e15384200468	412691cf-393d-4275-803e-b063ab91bf0d	g.chr19:49387078C>T	ENST00000221399.3	-	11	1352	c.1208G>A	c.(1207-1209)cGg>cAg	p.R403Q		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	403					visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	protein complex binding (GO:0032403)			NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		AGTCATTTTCCGAGGCCCCAG	0.512																																						ENST00000221399.3																			0				NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22						c.(1207-1209)cGg>cAg		tubby like protein 2							113.0	107.0	109.0					19																	49387078		2203	4300	6503	SO:0001583	missense	7288				visual perception	cytoplasm|extracellular region		g.chr19:49387078C>T	U82469	CCDS12739.1	19q13.1	2009-08-06			ENSG00000104804	ENSG00000104804			12424	protein-coding gene	gene with protein product	"""cancer/testis antigen 65"""	602309				9096357	Standard	NM_003323		Approved	TUBL2, CT65	uc002pkz.2	O00295	OTTHUMG00000164406	ENST00000221399.3:c.1208G>A	19.37:g.49387078C>T	ENSP00000221399:p.Arg403Gln						p.R403Q	NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)	11	1352	-		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	403					Q8TC50	Missense_Mutation	SNP	ENST00000221399.3	37	c.1208G>A	CCDS12739.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.941687	0.73557	.	.	ENSG00000104804	ENST00000221399	D	0.98221	-4.8	4.91	4.91	0.64330	Tubby, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.99257	0.9741	H	0.95574	3.69	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	D	0.98781	1.0732	10	0.87932	D	0	-31.5079	16.0703	0.80922	0.0:1.0:0.0:0.0	.	403	O00295	TULP2_HUMAN	Q	403	ENSP00000221399:R403Q	ENSP00000221399:R403Q	R	-	2	0	TULP2	54078890	1.000000	0.71417	1.000000	0.80357	0.032000	0.12392	5.603000	0.67619	2.731000	0.93534	0.650000	0.86243	CGG		0.512	TULP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378633.1	NM_003323		27	41	0	0	0	1	0	27	41				
VCL	7414	broad.mit.edu	37	10	75874123	75874123	+	Missense_Mutation	SNP	G	G	T			TCGA-J8-A3YF-01A-12D-A23M-08	TCGA-J8-A3YF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ef9ead-6e4c-4ba0-ad48-e15384200468	412691cf-393d-4275-803e-b063ab91bf0d	g.chr10:75874123G>T	ENST00000211998.4	+	20	3225	c.3131G>T	c.(3130-3132)cGg>cTg	p.R1044L	VCL_ENST00000372755.3_Missense_Mutation_p.R976L|VCL_ENST00000417648.2_Missense_Mutation_p.R237L	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	1044	C-terminal tail.|Facilitates phospholipid membrane insertion. {ECO:0000250}.				adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					ACAGATAAACGGATTAGAACC	0.552																																						ENST00000211998.4																		VCL/ALK(4)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20						c.(3130-3132)cGg>cTg		vinculin							88.0	81.0	83.0					10																	75874123		2203	4300	6503	SO:0001583	missense	7414				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity	g.chr10:75874123G>T	M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"""metavinculin"""	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.3131G>T	10.37:g.75874123G>T	ENSP00000211998:p.Arg1044Leu					VCL_ENST00000372755.3_Missense_Mutation_p.R976L|VCL_ENST00000417648.2_Missense_Mutation_p.R237L	p.R1044L	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN			20	3225	+	Prostate(51;0.0112)		1044			C-terminal tail.|Facilitates phospholipid membrane insertion (By similarity).		Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Missense_Mutation	SNP	ENST00000211998.4	37	c.3131G>T	CCDS7341.1	.	.	.	.	.	.	.	.	.	.	G	35	5.476120	0.96291	.	.	ENSG00000035403	ENST00000372755;ENST00000211998;ENST00000417648;ENST00000537043;ENST00000436396	T;T;T;T	0.39787	1.06;1.06;1.06;1.06	5.98	5.98	0.97165	.	0.117663	0.56097	D	0.000030	T	0.62171	0.2406	L	0.52905	1.665	0.80722	D	1	D;D;P;D	0.71674	0.959;0.995;0.618;0.998	P;D;B;D	0.67725	0.798;0.946;0.238;0.953	T	0.60541	-0.7243	10	0.66056	D	0.02	.	20.4581	0.99154	0.0:0.0:1.0:0.0	.	237;903;976;1044	B4DTM7;F5H7T3;P18206-2;P18206	.;.;.;VINC_HUMAN	L	976;1044;237;903;716	ENSP00000361841:R976L;ENSP00000211998:R1044L;ENSP00000411887:R237L;ENSP00000415489:R716L	ENSP00000211998:R1044L	R	+	2	0	VCL	75544129	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.835000	0.97688	0.650000	0.86243	CGG		0.552	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003373, NM_014000		16	35	1	0	6.31663e-08	1	6.63246e-08	16	35				
LYPD4	147719	broad.mit.edu	37	19	42342217	42342217	+	Silent	SNP	G	G	A			TCGA-J8-A3YF-01A-12D-A23M-08	TCGA-J8-A3YF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ef9ead-6e4c-4ba0-ad48-e15384200468	412691cf-393d-4275-803e-b063ab91bf0d	g.chr19:42342217G>A	ENST00000330743.3	-	4	1541	c.330C>T	c.(328-330)tgC>tgT	p.C110C	AC020956.3_ENST00000593354.1_lincRNA|LYPD4_ENST00000343055.4_Silent_p.C75C|LYPD4_ENST00000601246.1_Silent_p.C75C	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	110						anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						GATAAGACCGGCAGACGCGAC	0.532																																						ENST00000330743.3																			0				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						c.(328-330)tgC>tgT		LY6/PLAUR domain containing 4							142.0	122.0	129.0					19																	42342217		2203	4300	6503	SO:0001819	synonymous_variant	147719					anchored to membrane|plasma membrane		g.chr19:42342217G>A	AY358726	CCDS12587.1	19q13.2	2008-02-05				ENSG00000273111			28659	protein-coding gene	gene with protein product						12975309	Standard	XM_005278383		Approved	MGC42718	uc002orp.1	Q6UWN0		ENST00000330743.3:c.330C>T	19.37:g.42342217G>A						LYPD4_ENST00000601246.1_Silent_p.C75C|LYPD4_ENST00000343055.4_Silent_p.C75C	p.C110C	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN			4	1541	-			110					Q8IYW0	Silent	SNP	ENST00000330743.3	37	c.330C>T	CCDS12587.1																																																																																				0.532	LYPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463039.1	NM_173506		38	90	0	0	0	1	0	38	90				
MAGI1	9223	broad.mit.edu	37	3	65350583	65350583	+	Missense_Mutation	SNP	T	T	C			TCGA-J8-A3YF-01A-12D-A23M-08	TCGA-J8-A3YF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ef9ead-6e4c-4ba0-ad48-e15384200468	412691cf-393d-4275-803e-b063ab91bf0d	g.chr3:65350583T>C	ENST00000497477.2	-	18	3033	c.3034A>G	c.(3034-3036)Att>Gtt	p.I1012V	MAGI1_ENST00000330909.8_Missense_Mutation_p.I1107V|MAGI1_ENST00000402939.2_Missense_Mutation_p.I1079V|MAGI1_ENST00000483466.1_Missense_Mutation_p.I1108V			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1083	Interaction with FCHSD2.|PDZ 5. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		ATGGTGGCAATCTTCTCTGCA	0.498																																						ENST00000330909.8																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51						c.(3319-3321)Att>Gtt		membrane associated guanylate kinase, WW and PDZ domain containing 1							254.0	243.0	247.0					3																	65350583		2203	4300	6503	SO:0001583	missense	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65350583T>C	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.3034A>G	3.37:g.65350583T>C	ENSP00000424369:p.Ile1012Val					MAGI1_ENST00000402939.2_Missense_Mutation_p.I1079V|MAGI1_ENST00000497477.2_Missense_Mutation_p.I1012V|MAGI1_ENST00000483466.1_Missense_Mutation_p.I1108V	p.I1107V	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	20	3318	-		Lung NSC(201;0.0016)	1108					A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	ENST00000497477.2	37	c.3319A>G		.	.	.	.	.	.	.	.	.	.	T	13.50	2.255811	0.39896	.	.	ENSG00000151276	ENST00000402939;ENST00000330909;ENST00000422949;ENST00000463103;ENST00000483466;ENST00000497477;ENST00000472257	T;T;T;T;T;T	0.18502	2.71;2.33;2.34;2.34;2.21;2.35	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.17450	0.0419	L	0.36672	1.1	0.39865	D	0.973434	B;B;B;B	0.32051	0.194;0.354;0.151;0.184	B;B;B;B	0.34489	0.184;0.138;0.07;0.079	T	0.06625	-1.0816	10	0.26408	T	0.33	-23.5724	16.8061	0.85666	0.0:0.0:0.0:1.0	.	1012;1108;1079;1107	Q96QZ7-4;Q96QZ7-3;Q96QZ7-2;Q96QZ7-5	.;.;.;.	V	1079;1107;1003;983;1108;1012;866	ENSP00000385450:I1079V;ENSP00000331157:I1107V;ENSP00000418177:I983V;ENSP00000420323:I1108V;ENSP00000424369:I1012V;ENSP00000420796:I866V	ENSP00000331157:I1107V	I	-	1	0	MAGI1	65325623	1.000000	0.71417	0.997000	0.53966	0.944000	0.59088	8.040000	0.89188	2.367000	0.80283	0.528000	0.53228	ATT		0.498	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742		65	116	0	0	0	1	0	65	116				
GOLGA6B	55889	broad.mit.edu	37	15	72953665	72953665	+	Missense_Mutation	SNP	G	G	A			TCGA-J8-A3YF-01A-12D-A23M-08	TCGA-J8-A3YF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ef9ead-6e4c-4ba0-ad48-e15384200468	412691cf-393d-4275-803e-b063ab91bf0d	g.chr15:72953665G>A	ENST00000421285.3	+	8	625	c.625G>A	c.(625-627)Gcg>Acg	p.A209T		NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	209						Golgi apparatus (GO:0005794)				NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						AAAGGAGCGGGCGCTGCTGAA	0.592																																						ENST00000421285.3																			0				NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						c.(625-627)Gcg>Acg		golgin A6 family, member B							49.0	63.0	58.0					15																	72953665		1460	2616	4076	SO:0001583	missense	55889							g.chr15:72953665G>A		CCDS10245.2	15q24.1	2011-10-25	2010-02-12		ENSG00000215186	ENSG00000215186			32205	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6B"""				Standard	XM_006720604		Approved		uc010uks.1	A6NDN3	OTTHUMG00000133511	ENST00000421285.3:c.625G>A	15.37:g.72953665G>A	ENSP00000408132:p.Ala209Thr						p.A209T	NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN			8	625	+			209					A8MYY7	Missense_Mutation	SNP	ENST00000421285.3	37	c.625G>A	CCDS10245.2	.	.	.	.	.	.	.	.	.	.	.	13.50	2.256642	0.39896	.	.	ENSG00000215186	ENST00000421285	T	0.21932	1.98	0.39	0.39	0.16275	.	.	.	.	.	T	0.37156	0.0993	M	0.71206	2.165	0.24859	N	0.992358	D	0.60575	0.988	P	0.62885	0.908	T	0.11966	-1.0566	9	0.72032	D	0.01	.	6.668	0.23052	2.0E-4:0.0:0.9998:0.0	.	209	A6NDN3	GOG6B_HUMAN	T	209	ENSP00000408132:A209T	ENSP00000408132:A209T	A	+	1	0	GOLGA6B	70740719	0.701000	0.27806	0.019000	0.16419	0.010000	0.07245	0.767000	0.26575	0.472000	0.27344	0.134000	0.15878	GCG		0.592	GOLGA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257474.4	NM_018652		5	55	0	0	0	1	0	5	55				
CAP2	10486	broad.mit.edu	37	6	17539622	17539622	+	Missense_Mutation	SNP	A	A	T			TCGA-J8-A3YF-01A-12D-A23M-08	TCGA-J8-A3YF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ef9ead-6e4c-4ba0-ad48-e15384200468	412691cf-393d-4275-803e-b063ab91bf0d	g.chr6:17539622A>T	ENST00000229922.2	+	8	1291	c.759A>T	c.(757-759)aaA>aaT	p.K253N	CAP2_ENST00000493172.1_Intron|CAP2_ENST00000378990.2_Missense_Mutation_p.K227N|CAP2_ENST00000489374.1_Missense_Mutation_p.K141N|CAP2_ENST00000465994.1_Missense_Mutation_p.K189N	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	253					activation of adenylate cyclase activity (GO:0007190)|axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|establishment or maintenance of cell polarity (GO:0007163)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			AAGGCAAAAAAGAGGAATCTT	0.517																																						ENST00000229922.2																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27						c.(757-759)aaA>aaT		CAP, adenylate cyclase-associated protein, 2 (yeast)							144.0	125.0	131.0					6																	17539622		2203	4300	6503	SO:0001583	missense	10486				activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding	g.chr6:17539622A>T	BC008481	CCDS4539.1	6p22.3	2008-02-05			ENSG00000112186	ENSG00000112186			20039	protein-coding gene	gene with protein product						7962207, 8761950	Standard	NM_006366		Approved		uc003ncb.3	P40123	OTTHUMG00000014311	ENST00000229922.2:c.759A>T	6.37:g.17539622A>T	ENSP00000229922:p.Lys253Asn					CAP2_ENST00000489374.1_Missense_Mutation_p.K141N|CAP2_ENST00000493172.1_Intron|CAP2_ENST00000378990.2_Missense_Mutation_p.K227N|CAP2_ENST00000465994.1_Missense_Mutation_p.K189N	p.K253N	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	all cancers(50;0.194)|Epithelial(50;0.227)		8	1291	+	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	253					B2R5Y3|B7Z1C4|B7Z214|Q6IAY2	Missense_Mutation	SNP	ENST00000229922.2	37	c.759A>T	CCDS4539.1	.	.	.	.	.	.	.	.	.	.	a	8.539	0.872753	0.17322	.	.	ENSG00000112186	ENST00000229922;ENST00000378994;ENST00000489374;ENST00000378990;ENST00000465994	T;T;T;T	0.12569	2.67;2.67;2.67;2.67	5.53	3.16	0.36331	Adenylate cyclase-associated CAP, N-terminal (1);	0.490245	0.24678	N	0.036484	T	0.03434	0.0099	L	0.38838	1.175	0.42982	D	0.994463	B;B;B;B	0.32010	0.351;0.001;0.002;0.0	B;B;B;B	0.30943	0.122;0.006;0.006;0.004	T	0.40869	-0.9540	10	0.20519	T	0.43	-11.1172	7.7785	0.29051	0.7044:0.0:0.2956:0.0	.	141;189;227;253	B7Z385;B7Z1C4;E9PDI2;P40123	.;.;.;CAP2_HUMAN	N	253;170;141;227;189	ENSP00000229922:K253N;ENSP00000417705:K141N;ENSP00000368275:K227N;ENSP00000418604:K189N	ENSP00000229922:K253N	K	+	3	2	CAP2	17647601	0.865000	0.29922	0.081000	0.20488	0.616000	0.37450	0.994000	0.29693	0.395000	0.25257	-0.250000	0.11733	AAA		0.517	CAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039952.2			30	72	0	0	0	1	0	30	72				
WNT7B	7477	broad.mit.edu	37	22	46345891	46345891	+	Silent	SNP	G	G	A			TCGA-J8-A3YF-01A-12D-A23M-08	TCGA-J8-A3YF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ef9ead-6e4c-4ba0-ad48-e15384200468	412691cf-393d-4275-803e-b063ab91bf0d	g.chr22:46345891G>A	ENST00000339464.4	-	2	581	c.207C>T	c.(205-207)ggC>ggT	p.G69G	WNT7B_ENST00000410058.1_Silent_p.G69G|WNT7B_ENST00000409496.3_Silent_p.G73G|WNT7B_ENST00000410089.1_Silent_p.G53G	NM_058238.2	NP_478679.1	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family, member 7B	69					activation of JUN kinase activity (GO:0007257)|anatomical structure regression (GO:0060033)|apoptotic process involved in patterning of blood vessels (GO:1902262)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular metabolic process (GO:0044237)|cellular response to retinoic acid (GO:0071300)|central nervous system vasculogenesis (GO:0022009)|chorio-allantoic fusion (GO:0060710)|developmental growth involved in morphogenesis (GO:0060560)|embryonic organ development (GO:0048568)|embryonic placenta morphogenesis (GO:0060669)|establishment or maintenance of polarity of embryonic epithelium (GO:0016332)|fibroblast proliferation (GO:0048144)|forebrain regionalization (GO:0021871)|homeostatic process (GO:0042592)|in utero embryonic development (GO:0001701)|inner medullary collecting duct development (GO:0072061)|lens fiber cell development (GO:0070307)|lobar bronchus development (GO:0060482)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung morphogenesis (GO:0060425)|lung-associated mesenchyme development (GO:0060484)|mammary gland epithelium development (GO:0061180)|metanephric collecting duct development (GO:0072205)|metanephric epithelium development (GO:0072207)|metanephric loop of Henle development (GO:0072236)|metanephros morphogenesis (GO:0003338)|negative regulation of smoothened signaling pathway (GO:0045879)|neuron differentiation (GO:0030182)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|outer medullary collecting duct development (GO:0072060)|oxygen homeostasis (GO:0032364)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of cell projection size (GO:0032536)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|response to glucocorticoid (GO:0051384)|smooth muscle cell differentiation (GO:0051145)|stem cell proliferation (GO:0072089)|synapse organization (GO:0050808)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		ACTCGTTGATGCCCATCTGCG	0.622																																						ENST00000339464.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19						c.(205-207)ggC>ggT		wingless-type MMTV integration site family, member 7B							57.0	56.0	56.0					22																	46345891		2203	4300	6503	SO:0001819	synonymous_variant	7477				activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled binding|signal transducer activity	g.chr22:46345891G>A	AF416743	CCDS33667.1	22q13	2013-02-28			ENSG00000188064	ENSG00000188064		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12787	protein-coding gene	gene with protein product		601967				8168088, 9284940, 11562755	Standard	NM_058238		Approved		uc003bgo.2	P56706	OTTHUMG00000154636	ENST00000339464.4:c.207C>T	22.37:g.46345891G>A						WNT7B_ENST00000409496.3_Silent_p.G73G|WNT7B_ENST00000410058.1_Silent_p.G69G|WNT7B_ENST00000410089.1_Silent_p.G53G	p.G69G	NM_058238.2	NP_478679.1	P56706	WNT7B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)	2	581	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	69					B8A596|Q96Q12	Silent	SNP	ENST00000339464.4	37	c.207C>T	CCDS33667.1																																																																																				0.622	WNT7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336418.1	NM_058238		14	48	0	0	0	1	0	14	48				
DPYSL5	56896	broad.mit.edu	37	2	27167581	27167581	+	Missense_Mutation	SNP	G	G	A			TCGA-J8-A3YF-01A-12D-A23M-08	TCGA-J8-A3YF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ef9ead-6e4c-4ba0-ad48-e15384200468	412691cf-393d-4275-803e-b063ab91bf0d	g.chr2:27167581G>A	ENST00000288699.6	+	12	1656	c.1498G>A	c.(1498-1500)Gtg>Atg	p.V500M	DPYSL5_ENST00000401478.1_Missense_Mutation_p.V500M	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	500					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.V500M(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGCTGTTGTCGTGCACCCTGG	0.567																																						ENST00000288699.6																			1	Substitution - Missense(1)	p.V500M(1)	prostate(1)	breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27						c.(1498-1500)Gtg>Atg		dihydropyrimidinase-like 5							89.0	86.0	87.0					2																	27167581		2203	4300	6503	SO:0001583	missense	56896				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr2:27167581G>A	AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.1498G>A	2.37:g.27167581G>A	ENSP00000288699:p.Val500Met					DPYSL5_ENST00000401478.1_Missense_Mutation_p.V500M	p.V500M	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN			12	1656	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		500					Q8TCL6|Q9NQC4|Q9NRY9	Missense_Mutation	SNP	ENST00000288699.6	37	c.1498G>A	CCDS1730.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.505791	0.26949	.	.	ENSG00000157851	ENST00000288699;ENST00000401478	D;D	0.85484	-1.99;-1.99	5.24	5.24	0.73138	.	0.431218	0.24654	N	0.036700	T	0.69762	0.3147	N	0.04018	-0.295	0.33967	D	0.646392	B	0.27013	0.166	B	0.23018	0.043	T	0.70601	-0.4827	10	0.15066	T	0.55	-13.6882	17.5986	0.88020	0.0:0.0:1.0:0.0	.	500	Q9BPU6	DPYL5_HUMAN	M	500	ENSP00000288699:V500M;ENSP00000385549:V500M	ENSP00000288699:V500M	V	+	1	0	DPYSL5	27021085	1.000000	0.71417	0.935000	0.37517	0.967000	0.64934	3.290000	0.51755	2.459000	0.83118	0.462000	0.41574	GTG		0.567	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214187.2	NM_020134		42	87	0	0	0	1	0	42	87				
FRG1B	284802	broad.mit.edu	37	20	29628299	29628299	+	Missense_Mutation	SNP	A	A	G			TCGA-J8-A3YF-01A-12D-A23M-08	TCGA-J8-A3YF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ef9ead-6e4c-4ba0-ad48-e15384200468	412691cf-393d-4275-803e-b063ab91bf0d	g.chr20:29628299A>G	ENST00000278882.3	+	6	681	c.301A>G	c.(301-303)Agt>Ggt	p.S101G	FRG1B_ENST00000358464.4_Missense_Mutation_p.S101G|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	101										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AGAAGCAAAAAGTAAAACAGC	0.363																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(301-303)Agt>Ggt																																						SO:0001583	missense	0							g.chr20:29628299A>G			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.301A>G	20.37:g.29628299A>G	ENSP00000278882:p.Ser101Gly					FRG1B_ENST00000439954.2_Missense_Mutation_p.S106G|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101G	p.S101G							6	681	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.301A>G		.	.	.	.	.	.	.	.	.	.	a	16.61	3.170807	0.57584	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50001	0.76	2.08	2.08	0.27032	Actin cross-linking (1);	0.125588	0.64402	D	0.000001	T	0.38719	0.1051	.	.	.	0.42178	D	0.991671	B;P	0.36483	0.147;0.555	B;B	0.37731	0.138;0.257	T	0.38178	-0.9673	9	0.62326	D	0.03	.	8.0833	0.30758	1.0:0.0:0.0:0.0	.	106;101	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	G	101;106;101	ENSP00000408863:S106G	ENSP00000278882:S101G	S	+	1	0	FRG1B	28241960	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	8.085000	0.89518	1.208000	0.43306	0.347000	0.21830	AGT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	119	0	0	0	1	0	4	119				
METTL14	57721	broad.mit.edu	37	4	119631352	119631352	+	Silent	SNP	T	T	A			TCGA-J8-A3YF-01A-12D-A23M-08	TCGA-J8-A3YF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ef9ead-6e4c-4ba0-ad48-e15384200468	412691cf-393d-4275-803e-b063ab91bf0d	g.chr4:119631352T>A	ENST00000388822.5	+	11	1433	c.1266T>A	c.(1264-1266)tcT>tcA	p.S422S	METTL14_ENST00000506780.1_Silent_p.S384S			Q9HCE5	MET14_HUMAN	methyltransferase like 14	422	Gly-rich.				mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						GTGGAACTTCTGCTGGCCGTG	0.532																																						ENST00000388822.4																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						c.(1264-1266)tcT>tcA		methyltransferase like 14							56.0	58.0	57.0					4																	119631352		2203	4300	6503	SO:0001819	synonymous_variant	57721					nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity	g.chr4:119631352T>A	AB046847	CCDS34053.1	4q26	2009-02-24			ENSG00000145388	ENSG00000145388			29330	protein-coding gene	gene with protein product						10997877	Standard	NM_020961		Approved	KIAA1627	uc003icf.3	Q9HCE5	OTTHUMG00000161167	ENST00000388822.5:c.1266T>A	4.37:g.119631352T>A						METTL14_ENST00000506780.1_Silent_p.S384S	p.S422S			Q9HCE5	MTL14_HUMAN			11	1433	+			422			Gly-rich.		A6NIG1|Q969V2	Silent	SNP	ENST00000388822.5	37	c.1266T>A	CCDS34053.1																																																																																				0.532	METTL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364034.3	NM_020961		16	40	0	0	0	1	0	16	40				
LILRP2	79166	broad.mit.edu	37	19	55221570	55221570	+	RNA	SNP	A	A	C	rs554223424	byFrequency	TCGA-J8-A3YF-01A-12D-A23M-08	TCGA-J8-A3YF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ef9ead-6e4c-4ba0-ad48-e15384200468	412691cf-393d-4275-803e-b063ab91bf0d	g.chr19:55221570A>C	ENST00000413439.1	+	0	1350									leukocyte immunoglobulin-like receptor pseudogene 2																		TACAGATGCTACGGTGCACAC	0.677													.|||	5	0.000998403	0.0	0.0014	5008	,	,		16629	0.003		0.001	False		,,,				2504	0.0				Ovarian(107;788 1543 20399 31552 46707)	ENST00000413439.1																			0																																																			0							g.chr19:55221570A>C	AF072100		19q13.4	2010-02-17			ENSG00000240258	ENSG00000170858		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"""	15497	pseudogene	pseudogene						10941842	Standard	NR_003061		Approved	ILT10, CD85m	uc002qgs.1		OTTHUMG00000065886		19.37:g.55221570A>C														0	1350	+									RNA	SNP	ENST00000413439.1	37																																																																																						0.677	LILRP2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000141240.2	NM_024317		6	67	0	0	0	1	0	6	67				
OR51I1	390063	broad.mit.edu	37	11	5462660	5462660	+	Missense_Mutation	SNP	C	C	A			TCGA-J8-A3YF-01A-12D-A23M-08	TCGA-J8-A3YF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ef9ead-6e4c-4ba0-ad48-e15384200468	412691cf-393d-4275-803e-b063ab91bf0d	g.chr11:5462660C>A	ENST00000380211.1	-	1	84	c.85G>T	c.(85-87)Gtt>Ttt	p.V29F	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	29					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCAGGGCAACCCAGGTGAGG	0.522																																						ENST00000380211.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						c.(85-87)Gtt>Ttt		olfactory receptor, family 51, subfamily I, member 1							106.0	104.0	105.0					11																	5462660		2201	4297	6498	SO:0001583	missense	390063				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5462660C>A	BK004429	CCDS31382.1	11p15.4	2012-08-09			ENSG00000167359	ENSG00000167359		"""GPCR / Class A : Olfactory receptors"""	15200	protein-coding gene	gene with protein product							Standard	NM_001005288		Approved		uc010qze.2	Q9H343	OTTHUMG00000066908	ENST00000380211.1:c.85G>T	11.37:g.5462660C>A	ENSP00000369559:p.Val29Phe					HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	p.V29F	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	84	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	29					B9EKW2|Q6IF33	Missense_Mutation	SNP	ENST00000380211.1	37	c.85G>T	CCDS31382.1	.	.	.	.	.	.	.	.	.	.	C	5.281	0.237195	0.10023	.	.	ENSG00000167359	ENST00000317283;ENST00000321307;ENST00000380211	T	0.00333	8.07	5.75	-0.954	0.10359	.	0.458522	0.18233	N	0.147504	T	0.00144	0.0004	N	0.20357	0.565	0.18873	N	0.999982	B	0.26400	0.148	B	0.24541	0.054	T	0.39210	-0.9625	10	0.52906	T	0.07	.	2.8155	0.05454	0.1086:0.4636:0.1059:0.3219	.	29	Q9H343	O51I1_HUMAN	F	14;26;29	ENSP00000369559:V29F	ENSP00000348350:V14F	V	-	1	0	OR51I1	5419236	0.000000	0.05858	0.592000	0.28758	0.021000	0.10359	-2.852000	0.00731	-0.110000	0.12022	-0.916000	0.02749	GTT		0.522	OR51I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143399.1	NM_001005288		27	87	1	0	7.41945e-09	1	7.99018e-09	27	87				
ZNF74	7625	broad.mit.edu	37	22	20760482	20760482	+	Missense_Mutation	SNP	C	C	T			TCGA-J8-A3YF-01A-12D-A23M-08	TCGA-J8-A3YF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ef9ead-6e4c-4ba0-ad48-e15384200468	412691cf-393d-4275-803e-b063ab91bf0d	g.chr22:20760482C>T	ENST00000400451.2	+	5	1673	c.1159C>T	c.(1159-1161)Ccc>Tcc	p.P387S	ZNF74_ENST00000356671.5_Missense_Mutation_p.P387S|ZNF74_ENST00000403682.3_3'UTR|ZNF74_ENST00000405993.1_Missense_Mutation_p.P355S|ZNF74_ENST00000357502.5_3'UTR	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	387					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GGGCGAGAAGCCCTACCAGTG	0.647																																						ENST00000400451.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(1159-1161)Ccc>Tcc		zinc finger protein 74							46.0	59.0	54.0					22																	20760482		2203	4300	6503	SO:0001583	missense	7625				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr22:20760482C>T	X71623	CCDS42982.1, CCDS58794.1	22q11.2	2013-01-08	2006-05-12		ENSG00000185252	ENSG00000185252		"""Zinc fingers, C2H2-type"", ""-"""	13144	protein-coding gene	gene with protein product		194548	"""zinc finger protein 74 (Cos52)"""			1639391, 10591208	Standard	NM_003426		Approved	Cos52, Zfp520, ZNF520	uc010gsm.4	Q16587	OTTHUMG00000150687	ENST00000400451.2:c.1159C>T	22.37:g.20760482C>T	ENSP00000383301:p.Pro387Ser					ZNF74_ENST00000405993.1_Missense_Mutation_p.P355S|ZNF74_ENST00000356671.5_Missense_Mutation_p.P387S|ZNF74_ENST00000357502.5_3'UTR|ZNF74_ENST00000403682.3_3'UTR	p.P387S	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		5	1673	+	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	387					B5MCE3|B7Z5Y2|Q6IBV2|Q6PJP1|Q9UC04|Q9UF05|Q9UF06|Q9UF07	Missense_Mutation	SNP	ENST00000400451.2	37	c.1159C>T	CCDS42982.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.183043	0.78677	.	.	ENSG00000185252	ENST00000400451;ENST00000356671;ENST00000405993	T;T;T	0.16743	2.32;2.32;2.32	3.97	3.97	0.46021	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38492	N	0.001673	T	0.31009	0.0783	L	0.35644	1.08	0.36323	D	0.85835	D	0.89917	1.0	D	0.77004	0.989	T	0.29397	-1.0013	10	0.87932	D	0	-44.9289	14.3492	0.66688	0.0:1.0:0.0:0.0	.	387	Q16587	ZNF74_HUMAN	S	387;387;355	ENSP00000383301:P387S;ENSP00000349098:P387S;ENSP00000385855:P355S	ENSP00000349098:P387S	P	+	1	0	ZNF74	19090482	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	5.493000	0.66899	2.506000	0.84524	0.655000	0.94253	CCC		0.647	ZNF74-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319648.2	NM_003426		30	65	0	0	0	1	0	30	65				
ZNF292	23036	broad.mit.edu	37	6	87925716	87925716	+	Silent	SNP	C	C	G			TCGA-J8-A3YF-01A-12D-A23M-08	TCGA-J8-A3YF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ef9ead-6e4c-4ba0-ad48-e15384200468	412691cf-393d-4275-803e-b063ab91bf0d	g.chr6:87925716C>G	ENST00000369577.3	+	2	307	c.264C>G	c.(262-264)gcC>gcG	p.A88A	ZNF292_ENST00000339907.4_Silent_p.A88A|ZNF292_ENST00000369578.2_3'UTR	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	88						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		ATGTTAAAGCCCGACCTTATC	0.378																																						ENST00000369577.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(262-264)gcC>gcG		zinc finger protein 292							149.0	136.0	140.0					6																	87925716		1890	4105	5995	SO:0001819	synonymous_variant	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87925716C>G	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.264C>G	6.37:g.87925716C>G						ZNF292_ENST00000369578.2_3'UTR|ZNF292_ENST00000339907.4_Silent_p.A88A	p.A88A	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	2	307	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	88					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Silent	SNP	ENST00000369577.3	37	c.264C>G	CCDS47457.1																																																																																				0.378	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		18	31	0	0	0	1	0	18	31				
MAP1A	4130	broad.mit.edu	37	15	43820887	43820887	+	Silent	SNP	T	T	C			TCGA-J8-A3YF-01A-12D-A23M-08	TCGA-J8-A3YF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ef9ead-6e4c-4ba0-ad48-e15384200468	412691cf-393d-4275-803e-b063ab91bf0d	g.chr15:43820887T>C	ENST00000300231.5	+	4	7666	c.7216T>C	c.(7216-7218)Ttg>Ctg	p.L2406L	MAP1A_ENST00000382031.1_Silent_p.L2644L|MAP1A_ENST00000399453.1_Silent_p.L2406L			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2406					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GCCTGACACATTGCTCTCCCC	0.672																																						ENST00000382031.1																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66						c.(7930-7932)Ttg>Ctg		microtubule-associated protein 1A	Estramustine(DB01196)						22.0	27.0	26.0					15																	43820887		1911	4111	6022	SO:0001819	synonymous_variant	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43820887T>C	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.7216T>C	15.37:g.43820887T>C						MAP1A_ENST00000300231.5_Silent_p.L2406L|MAP1A_ENST00000399453.1_Silent_p.L2406L	p.L2644L			P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	5	7961	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	2406					O95643|Q12973|Q15882|Q9UJT4	Silent	SNP	ENST00000300231.5	37	c.7930T>C	CCDS42031.1																																																																																				0.672	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		14	30	0	0	0	1	0	14	30				
PRSS57	400668	broad.mit.edu	37	19	686939	686939	+	Missense_Mutation	SNP	G	G	A	rs200709250	byFrequency	TCGA-J8-A3YF-01A-12D-A23M-08	TCGA-J8-A3YF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ef9ead-6e4c-4ba0-ad48-e15384200468	412691cf-393d-4275-803e-b063ab91bf0d	g.chr19:686939G>A	ENST00000329267.7	-	4	660	c.631C>T	c.(631-633)Cgg>Tgg	p.R211W		NM_214710.3	NP_999875	Q6UWY2	PRS57_HUMAN	protease, serine, 57	211	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|lung(5)	6						CAGAAGCCCCGTCTGTGGCTG	0.637													G|||	2	0.000399361	0.0	0.0014	5008	,	,		18807	0.001		0.0	False		,,,				2504	0.0					ENST00000329267.7																			0				central_nervous_system(1)|lung(5)	6						c.(631-633)Cgg>Tgg		protease, serine, 57							56.0	56.0	56.0					19																	686939		2203	4300	6503	SO:0001583	missense	400668				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:686939G>A	AY358594	CCDS12041.1	19p13.3	2012-03-26	2011-03-07	2011-03-07		ENSG00000185198		"""Serine peptidases / Serine peptidases"""	31397	protein-coding gene	gene with protein product			"""protease, serine-like 1"""	PRSSL1		12975309	Standard	NM_214710		Approved	UNQ782	uc002lpl.1	Q6UWY2		ENST00000329267.7:c.631C>T	19.37:g.686939G>A	ENSP00000327386:p.Arg211Trp						p.R211W	NM_214710.3	NP_999875.1	Q6UWY2	PRS57_HUMAN			4	660	-			211			Peptidase S1.		B2RNW8	Missense_Mutation	SNP	ENST00000329267.7	37	c.631C>T	CCDS12041.1	.	.	.	.	.	.	.	.	.	.	G	9.998	1.232707	0.22626	.	.	ENSG00000185198	ENST00000329267	D	0.89485	-2.52	4.91	1.02	0.19986	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.459045	0.15496	N	0.259279	D	0.93572	0.7948	M	0.87097	2.86	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.983	D	0.84518	0.0626	10	0.72032	D	0.01	.	8.5997	0.33736	0.0:0.1826:0.4721:0.3453	.	210;211	B7ZMF6;Q6UWY2	.;PRS57_HUMAN	W	211	ENSP00000327386:R211W	ENSP00000327386:R211W	R	-	1	2	PRSS57	637939	0.001000	0.12720	0.038000	0.18304	0.022000	0.10575	0.260000	0.18424	1.051000	0.40369	-0.475000	0.04921	CGG		0.637	PRSS57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452480.2	NM_214710		7	62	0	0	0	1	0	7	62				
EYA3	2140	broad.mit.edu	37	1	28384518	28384518	+	Nonsense_Mutation	SNP	A	A	T			TCGA-J8-A3YF-01A-12D-A23M-08	TCGA-J8-A3YF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ef9ead-6e4c-4ba0-ad48-e15384200468	412691cf-393d-4275-803e-b063ab91bf0d	g.chr1:28384518A>T	ENST00000373871.3	-	2	260	c.20T>A	c.(19-21)tTa>tAa	p.L7*	EYA3_ENST00000545175.1_5'UTR|EYA3_ENST00000373863.3_Nonsense_Mutation_p.L7*|EYA3_ENST00000373864.1_5'UTR|EYA3_ENST00000436342.2_5'UTR|EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000540618.1_Nonsense_Mutation_p.L7*	NM_001282561.1|NM_001282562.1	NP_001269490.1|NP_001269491.1	Q99504	EYA3_HUMAN	EYA transcriptional coactivator and phosphatase 3	7					anatomical structure morphogenesis (GO:0009653)|double-strand break repair (GO:0006302)|histone dephosphorylation (GO:0016576)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of DNA repair (GO:0045739)|regulation of transcription, DNA-templated (GO:0006355)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		TTGCTCTGGTAAATCTTGCTC	0.303																																						ENST00000373871.3																			0				breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15						c.(19-21)tTa>tAa		eyes absent homolog 3 (Drosophila)							121.0	128.0	126.0					1																	28384518		2203	4300	6503	SO:0001587	stop_gained	2140				anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity	g.chr1:28384518A>T	U81602	CCDS316.1, CCDS60050.1, CCDS60051.1, CCDS60052.1	1p36	2014-06-19	2014-06-19		ENSG00000158161	ENSG00000158161		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3521	protein-coding gene	gene with protein product		601655	"""eyes absent (Drosophila) homolog 3"", ""eyes absent homolog 3 (Drosophila)"""			9020840	Standard	NM_001990		Approved	DKFZp686C132	uc001bpi.2	Q99504	OTTHUMG00000003916	ENST00000373871.3:c.20T>A	1.37:g.28384518A>T	ENSP00000362978:p.Leu7*					EYA3_ENST00000545175.1_5'UTR|EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000373863.3_Nonsense_Mutation_p.L7*|EYA3_ENST00000373864.1_5'UTR|EYA3_ENST00000540618.1_Nonsense_Mutation_p.L7*|EYA3_ENST00000436342.2_5'UTR	p.L7*			Q99504	EYA3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)	2	260	-		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	7					A8K190|B4DIR7|B4DNZ7|O95463|Q8IVX7|Q99813	Nonsense_Mutation	SNP	ENST00000373871.3	37	c.20T>A	CCDS316.1	.	.	.	.	.	.	.	.	.	.	A	38	7.254854	0.98168	.	.	ENSG00000158161	ENST00000373871;ENST00000540618;ENST00000373863	.	.	.	5.5	5.5	0.81552	.	0.353913	0.30320	N	0.009882	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.5013	14.1757	0.65539	1.0:0.0:0.0:0.0	.	.	.	.	X	7	.	ENSP00000362970:L7X	L	-	2	0	EYA3	28257105	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.486000	0.66856	2.078000	0.62432	0.528000	0.53228	TTA		0.303	EYA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011184.1	NM_001990		24	59	0	0	0	1	0	24	59				
GNPAT	8443	broad.mit.edu	37	1	231401763	231401763	+	Missense_Mutation	SNP	T	T	G			TCGA-J8-A3YF-01A-12D-A23M-08	TCGA-J8-A3YF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ef9ead-6e4c-4ba0-ad48-e15384200468	412691cf-393d-4275-803e-b063ab91bf0d	g.chr1:231401763T>G	ENST00000366647.4	+	7	945	c.776T>G	c.(775-777)cTt>cGt	p.L259R	GNPAT_ENST00000366646.3_Missense_Mutation_p.L198R	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	259					cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				TTTGCAGGTCTTCTGAATATT	0.343																																						ENST00000366647.4																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23						c.(775-777)cTt>cGt		glyceronephosphate O-acyltransferase							74.0	74.0	74.0					1																	231401763		2202	4298	6500	SO:0001583	missense	8443				ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity	g.chr1:231401763T>G	AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024	ENST00000366647.4:c.776T>G	1.37:g.231401763T>G	ENSP00000355607:p.Leu259Arg					GNPAT_ENST00000366646.3_Missense_Mutation_p.L198R	p.L259R	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN			7	945	+	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)	259					B4DNM9|Q5TBH7|Q9BWC2	Missense_Mutation	SNP	ENST00000366647.4	37	c.776T>G	CCDS1592.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.959582	0.74016	.	.	ENSG00000116906	ENST00000436239;ENST00000366647;ENST00000366646;ENST00000416000	D;D;D;D	0.93859	-3.3;-3.3;-3.3;-3.3	5.6	5.6	0.85130	Phospholipid/glycerol acyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.97139	0.9065	M	0.88704	2.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.97940	1.0325	10	0.87932	D	0	.	15.7878	0.78322	0.0:0.0:0.0:1.0	.	198;259	B4DNM9;O15228	.;GNPAT_HUMAN	R	198;259;198;249	ENSP00000402811:L198R;ENSP00000355607:L259R;ENSP00000355606:L198R;ENSP00000411640:L249R	ENSP00000355606:L198R	L	+	2	0	GNPAT	229468386	1.000000	0.71417	1.000000	0.80357	0.734000	0.41952	7.698000	0.84413	2.132000	0.65825	0.377000	0.23210	CTT		0.343	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092871.1			15	32	0	0	0	1	0	15	32				
DDX42	11325	broad.mit.edu	37	17	61885144	61885144	+	Missense_Mutation	SNP	A	A	G			TCGA-J8-A3YF-01A-12D-A23M-08	TCGA-J8-A3YF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ef9ead-6e4c-4ba0-ad48-e15384200468	412691cf-393d-4275-803e-b063ab91bf0d	g.chr17:61885144A>G	ENST00000578681.1	+	10	1508	c.907A>G	c.(907-909)Aaa>Gaa	p.K303E	DDX42_ENST00000583590.1_Missense_Mutation_p.K303E|DDX42_ENST00000359353.5_Missense_Mutation_p.K184E|DDX42_ENST00000457800.2_Missense_Mutation_p.K303E|DDX42_ENST00000389924.2_Missense_Mutation_p.K303E	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	303	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						AGGTAGTGGGAAAACTGCAGC	0.423																																						ENST00000578681.1																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						c.(907-909)Aaa>Gaa		DEAD (Asp-Glu-Ala-Asp) box helicase 42							184.0	169.0	174.0					17																	61885144		2203	4300	6503	SO:0001583	missense	11325				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr17:61885144A>G	BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"""DEAD-boxes"""	18676	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 8"""	613369	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"""			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3		ENST00000578681.1:c.907A>G	17.37:g.61885144A>G	ENSP00000464050:p.Lys303Glu					DDX42_ENST00000359353.5_Missense_Mutation_p.K184E|DDX42_ENST00000457800.2_Missense_Mutation_p.K303E|DDX42_ENST00000389924.2_Missense_Mutation_p.K303E|DDX42_ENST00000583590.1_Missense_Mutation_p.K303E	p.K303E	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN			10	1508	+			303			Helicase ATP-binding.		A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Missense_Mutation	SNP	ENST00000578681.1	37	c.907A>G	CCDS32704.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.697494	0.88830	.	.	ENSG00000198231	ENST00000389924;ENST00000457800;ENST00000359353	T;T	0.73789	-0.78;-0.78	5.93	4.86	0.63082	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.041854	0.85682	N	0.000000	D	0.91754	0.7392	H	0.99464	4.58	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93257	0.6640	10	0.87932	D	0	-18.3363	11.2557	0.49052	0.9292:0.0:0.0708:0.0	.	303	Q86XP3	DDX42_HUMAN	E	303;303;39	ENSP00000374574:K303E;ENSP00000390121:K303E	ENSP00000352308:K39E	K	+	1	0	DDX42	59238876	1.000000	0.71417	0.985000	0.45067	0.971000	0.66376	9.339000	0.96797	1.082000	0.41137	-0.256000	0.11100	AAA		0.423	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372		45	84	0	0	0	1	0	45	84				
ZBTB18	10472	broad.mit.edu	37	1	244217471	244217471	+	Missense_Mutation	SNP	C	C	T			TCGA-J8-A3YF-01A-12D-A23M-08	TCGA-J8-A3YF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ef9ead-6e4c-4ba0-ad48-e15384200468	412691cf-393d-4275-803e-b063ab91bf0d	g.chr1:244217471C>T	ENST00000358704.4	+	2	544	c.395C>T	c.(394-396)aCg>aTg	p.T132M		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1	Q99592	ZBT18_HUMAN	zinc finger and BTB domain containing 18	123			E -> G (in dbSNP:rs1048824). {ECO:0000269|PubMed:7633419}.		cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron development (GO:0048666)|regulation of cell division (GO:0051302)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										AAAGCCACCACGGAGGCAGAC	0.488																																						ENST00000358704.4																			0											c.(394-396)aCg>aTg		zinc finger and BTB domain containing 18							68.0	61.0	63.0					1																	244217471		2203	4300	6503	SO:0001583	missense	10472							g.chr1:244217471C>T	U38896	CCDS1622.1	1q44	2013-09-19	2013-01-09	2013-01-09	ENSG00000179456	ENSG00000179456		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13030	protein-coding gene	gene with protein product		608433	"""zinc finger protein 238"""	ZNF238		9568537, 9013868	Standard	NM_205768		Approved	C2H2-171, TAZ-1, RP58	uc031psv.1	Q99592	OTTHUMG00000040013	ENST00000358704.4:c.395C>T	1.37:g.244217471C>T	ENSP00000351539:p.Thr132Met						p.T132M	NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1					2	544	+								A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Missense_Mutation	SNP	ENST00000358704.4	37	c.395C>T	CCDS1622.1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.776598	0.70107	.	.	ENSG00000179456	ENST00000366538;ENST00000358704	T	0.12569	2.67	5.28	5.28	0.74379	.	0.160399	0.56097	D	0.000031	T	0.16300	0.0392	N	0.14661	0.345	0.53005	D	0.999967	D;D;D	0.61080	0.989;0.975;0.986	B;B;P	0.51582	0.446;0.375;0.674	T	0.04320	-1.0960	10	0.62326	D	0.03	.	18.9108	0.92483	0.0:1.0:0.0:0.0	.	132;123;132	B4DF20;Q99592;Q99592-2	.;ZN238_HUMAN;.	M	132	ENSP00000351539:T132M	ENSP00000351539:T132M	T	+	2	0	ZNF238	242284094	1.000000	0.71417	0.993000	0.49108	0.964000	0.63967	5.634000	0.67833	2.475000	0.83589	0.650000	0.86243	ACG		0.488	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096513.2	NM_205768		8	30	0	0	0	1	0	8	30				
TEX15	56154	broad.mit.edu	37	8	30695301	30695301	+	Missense_Mutation	SNP	A	A	T			TCGA-J8-A3YF-01A-12D-A23M-08	TCGA-J8-A3YF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ef9ead-6e4c-4ba0-ad48-e15384200468	412691cf-393d-4275-803e-b063ab91bf0d	g.chr8:30695301A>T	ENST00000256246.2	-	3	7424	c.7350T>A	c.(7348-7350)gaT>gaA	p.D2450E		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2450					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AATCTTTCTTATCACTTTTTG	0.348																																						ENST00000256246.2																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(7348-7350)gaT>gaA		testis expressed 15							169.0	174.0	172.0					8																	30695301		2203	4300	6503	SO:0001583	missense	56154							g.chr8:30695301A>T	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.7350T>A	8.37:g.30695301A>T	ENSP00000256246:p.Asp2450Glu						p.D2450E	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	3	7424	-			2450						Missense_Mutation	SNP	ENST00000256246.2	37	c.7350T>A	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	A	11.49	1.653440	0.29425	.	.	ENSG00000133863	ENST00000256246	T	0.10573	2.86	4.97	0.809	0.18725	.	1.139260	0.06555	N	0.745804	T	0.08670	0.0215	L	0.29908	0.895	0.09310	N	1	B	0.20550	0.046	B	0.15484	0.013	T	0.38845	-0.9642	10	0.87932	D	0	.	5.4676	0.16652	0.4745:0.3544:0.0:0.1711	.	2450	Q9BXT5	TEX15_HUMAN	E	2450	ENSP00000256246:D2450E	ENSP00000256246:D2450E	D	-	3	2	TEX15	30814843	0.000000	0.05858	0.001000	0.08648	0.084000	0.17831	0.364000	0.20325	0.396000	0.25283	0.379000	0.24179	GAT		0.348	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			40	147	0	0	0	1	0	40	147				
PACRGL	133015	broad.mit.edu	37	4	20715141	20715141	+	Missense_Mutation	SNP	T	T	A			TCGA-J8-A3YF-01A-12D-A23M-08	TCGA-J8-A3YF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ef9ead-6e4c-4ba0-ad48-e15384200468	412691cf-393d-4275-803e-b063ab91bf0d	g.chr4:20715141T>A	ENST00000503585.1	+	7	979	c.588T>A	c.(586-588)caT>caA	p.H196Q	PACRGL_ENST00000538990.1_Missense_Mutation_p.H98Q|PACRGL_ENST00000360916.5_Missense_Mutation_p.H196Q|PACRGL_ENST00000444671.2_Missense_Mutation_p.H98Q|PACRGL_ENST00000295290.8_Missense_Mutation_p.H196Q|PACRGL_ENST00000507634.1_Missense_Mutation_p.H196Q|PACRGL_ENST00000513459.1_Missense_Mutation_p.H143Q|PACRGL_ENST00000502938.1_Intron|PACRGL_ENST00000502374.1_Missense_Mutation_p.H143Q	NM_001258345.1	NP_001245274.1	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like	196										endometrium(2)|lung(7)|prostate(1)	10						TAAACGACCATCTGAAGCATC	0.388																																						ENST00000360916.5																			0				endometrium(2)|lung(7)|prostate(1)	10						c.(586-588)caT>caA		PARK2 co-regulated-like							219.0	174.0	190.0					4																	20715141		2203	4300	6503	SO:0001583	missense	133015						binding	g.chr4:20715141T>A	AK098692	CCDS3427.1, CCDS47034.1, CCDS58895.1, CCDS58896.1	4p15.31	2008-10-02	2008-10-02	2008-10-02	ENSG00000163138	ENSG00000163138			28442	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 28"""	C4orf28		12477932	Standard	NM_145048		Approved	MGC29898	uc010iek.3	Q8N7B6	OTTHUMG00000128550	ENST00000503585.1:c.588T>A	4.37:g.20715141T>A	ENSP00000423881:p.His196Gln					PACRGL_ENST00000295290.8_Missense_Mutation_p.H196Q|PACRGL_ENST00000444671.2_Missense_Mutation_p.H98Q|PACRGL_ENST00000507634.1_Missense_Mutation_p.H196Q|PACRGL_ENST00000503585.1_Missense_Mutation_p.H196Q|PACRGL_ENST00000502938.1_Intron|PACRGL_ENST00000538990.1_Missense_Mutation_p.H98Q|PACRGL_ENST00000502374.1_Missense_Mutation_p.H143Q|PACRGL_ENST00000513459.1_Missense_Mutation_p.H143Q	p.H196Q	NM_145048.3	NP_659485.1	Q8N7B6	PACRL_HUMAN			7	979	+			196					B2RDB9|B4DFF8|B4DMN7|Q8TBA8	Missense_Mutation	SNP	ENST00000503585.1	37	c.588T>A	CCDS58895.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.067616	0.76301	.	.	ENSG00000163138	ENST00000510051;ENST00000503585;ENST00000360916;ENST00000295290;ENST00000444671;ENST00000502374;ENST00000538990;ENST00000513590;ENST00000514292;ENST00000507634;ENST00000513459;ENST00000511089	T;T;T;T;T;T;T;T;T	0.68624	3.54;-0.34;3.54;3.54;3.54;3.54;3.54;3.54;3.54	5.64	1.91	0.25777	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.77651	0.4162	M	0.75264	2.295	0.28295	N	0.923384	D;D;D;D;D;D	0.89917	0.999;0.999;0.996;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.993;0.989;0.973;0.998;0.999;0.982	T	0.69960	-0.5003	10	0.66056	D	0.02	-17.2156	8.5287	0.33321	0.0:0.2815:0.0:0.7185	.	143;196;244;98;143;196	B4DFF8;Q8N7B6;D6R9N9;B4DMN7;D6RGK2;Q8N7B6-2	.;PACRL_HUMAN;.;.;.;.	Q	244;196;196;196;98;143;98;196;98;196;143;143	ENSP00000423499:H244Q;ENSP00000423881:H196Q;ENSP00000354171:H196Q;ENSP00000295290:H196Q;ENSP00000425461:H143Q;ENSP00000422425:H196Q;ENSP00000425938:H196Q;ENSP00000426286:H143Q;ENSP00000421687:H143Q	ENSP00000295290:H196Q	H	+	3	2	PACRGL	20324239	0.990000	0.36364	0.998000	0.56505	0.975000	0.68041	0.077000	0.14738	0.111000	0.17947	0.533000	0.62120	CAT		0.388	PACRGL-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360321.2	NM_145048		13	63	0	0	0	1	0	13	63				
KCNG1	3755	broad.mit.edu	37	20	49620640	49620640	+	Missense_Mutation	SNP	C	C	T			TCGA-J8-A3YF-01A-12D-A23M-08	TCGA-J8-A3YF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ef9ead-6e4c-4ba0-ad48-e15384200468	412691cf-393d-4275-803e-b063ab91bf0d	g.chr20:49620640C>T	ENST00000371571.4	-	3	1763	c.1478G>A	c.(1477-1479)aGc>aAc	p.S493N	KCNG1_ENST00000506387.1_5'UTR|RP5-955M13.4_ENST00000424566.1_RNA	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	493					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CTGGGACACGCTCAGCTGCGA	0.587																																						ENST00000371571.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(1477-1479)aGc>aAc		potassium voltage-gated channel, subfamily G, member 1							98.0	71.0	80.0					20																	49620640		2203	4300	6503	SO:0001583	missense	3755					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:49620640C>T	AF033383	CCDS13436.1	20q13	2011-07-05			ENSG00000026559	ENSG00000026559		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6248	protein-coding gene	gene with protein product		603788		KCNG		9434767, 16382104	Standard	NM_002237		Approved	Kv6.1, kH2, K13	uc002xwa.4	Q9UIX4	OTTHUMG00000032745	ENST00000371571.4:c.1478G>A	20.37:g.49620640C>T	ENSP00000360626:p.Ser493Asn					RP5-955M13.3_ENST00000506387.1_RNA|RP5-955M13.4_ENST00000424566.1_RNA	p.S493N	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN			3	1763	-			493					A8K3S4|O43528|Q5JXL5|Q9BRC1	Missense_Mutation	SNP	ENST00000371571.4	37	c.1478G>A	CCDS13436.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.544688	0.65198	.	.	ENSG00000026559	ENST00000371571	D	0.97924	-4.61	4.89	4.89	0.63831	.	.	.	.	.	D	0.89808	0.6822	N	0.01576	-0.805	0.80722	D	1	P	0.46064	0.872	B	0.34418	0.182	D	0.90874	0.4748	8	.	.	.	.	18.1188	0.89565	0.0:1.0:0.0:0.0	.	493	Q9UIX4	KCNG1_HUMAN	N	493	ENSP00000360626:S493N	.	S	-	2	0	KCNG1	49054047	1.000000	0.71417	0.989000	0.46669	0.924000	0.55760	2.398000	0.44486	2.272000	0.75746	0.456000	0.33151	AGC		0.587	KCNG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079726.4	NM_002237		20	36	0	0	0	1	0	20	36				
FRMPD1	22844	broad.mit.edu	37	9	37745028	37745028	+	Missense_Mutation	SNP	C	C	T			TCGA-J8-A3YF-01A-12D-A23M-08	TCGA-J8-A3YF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ef9ead-6e4c-4ba0-ad48-e15384200468	412691cf-393d-4275-803e-b063ab91bf0d	g.chr9:37745028C>T	ENST00000539465.1	+	16	3592	c.2999C>T	c.(2998-3000)gCc>gTc	p.A1000V	FRMPD1_ENST00000377765.3_Missense_Mutation_p.A1000V|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1000						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GATGGGATTGCCCCCAAAGAA	0.547																																						ENST00000539465.1																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(2998-3000)gCc>gTc		FERM and PDZ domain containing 1							93.0	92.0	92.0					9																	37745028		2203	4300	6503	SO:0001583	missense	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37745028C>T	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.2999C>T	9.37:g.37745028C>T	ENSP00000444411:p.Ala1000Val					FRMPD1_ENST00000377765.3_Missense_Mutation_p.A1000V|RP11-613M10.9_ENST00000540557.1_Intron	p.A1000V			Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	16	3592	+			1000					B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	c.2999C>T	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	C	8.326	0.825408	0.16749	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.07800	3.16;3.16	5.02	-1.05	0.10036	.	2.095410	0.01593	N	0.021670	T	0.05914	0.0154	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33777	-0.9855	10	0.23891	T	0.37	-1.1273	3.5435	0.07820	0.179:0.3546:0.0:0.4663	.	1000	Q5SYB0	FRPD1_HUMAN	V	1000	ENSP00000366995:A1000V;ENSP00000444411:A1000V	ENSP00000366995:A1000V	A	+	2	0	FRMPD1	37735028	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.482000	0.06544	-0.074000	0.12820	-0.475000	0.04921	GCC		0.547	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		4	135	0	0	0	1	0	4	135				
USP10	9100	broad.mit.edu	37	16	84797774	84797774	+	Silent	SNP	A	A	G			TCGA-J8-A3YF-01A-12D-A23M-08	TCGA-J8-A3YF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ef9ead-6e4c-4ba0-ad48-e15384200468	412691cf-393d-4275-803e-b063ab91bf0d	g.chr16:84797774A>G	ENST00000219473.7	+	10	1850	c.1737A>G	c.(1735-1737)gaA>gaG	p.E579E	USP10_ENST00000570191.1_Silent_p.E583E	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	579	USP.				autophagy (GO:0006914)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA repair (GO:0006281)|protein deubiquitination (GO:0016579)|regulation of autophagy (GO:0010506)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						GCGAGGATGAATGGGAACAAG	0.507																																						ENST00000219473.7																			0				endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						c.(1735-1737)gaA>gaG		ubiquitin specific peptidase 10							73.0	75.0	74.0					16																	84797774		1881	4099	5980	SO:0001819	synonymous_variant	9100				DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:84797774A>G	D80012	CCDS45537.1, CCDS62004.1	16q	2008-03-25	2005-08-08			ENSG00000103194		"""Ubiquitin-specific peptidases"""	12608	protein-coding gene	gene with protein product		609818	"""ubiquitin specific protease 10"""			12838346	Standard	NM_005153		Approved	UBPO, KIAA0190	uc002fii.3	Q14694		ENST00000219473.7:c.1737A>G	16.37:g.84797774A>G						USP10_ENST00000570191.1_Silent_p.E583E	p.E579E	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN			10	1850	+			579					B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	Silent	SNP	ENST00000219473.7	37	c.1737A>G	CCDS45537.1																																																																																				0.507	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433660.1			18	42	0	0	0	1	0	18	42				
SPG21	51324	broad.mit.edu	37	15	65257674	65257674	+	Missense_Mutation	SNP	T	T	C			TCGA-J8-A3YF-01A-12D-A23M-08	TCGA-J8-A3YF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ef9ead-6e4c-4ba0-ad48-e15384200468	412691cf-393d-4275-803e-b063ab91bf0d	g.chr15:65257674T>C	ENST00000204566.2	-	8	1092	c.797A>G	c.(796-798)aAt>aGt	p.N266S	SPG21_ENST00000416889.2_Missense_Mutation_p.N239S|SPG21_ENST00000559199.1_Missense_Mutation_p.N112S|SPG21_ENST00000433215.2_Missense_Mutation_p.N266S	NM_016630.3	NP_057714.1	Q9NZD8	SPG21_HUMAN	spastic paraplegia 21 (autosomal recessive, Mast syndrome)	266					antigen receptor-mediated signaling pathway (GO:0050851)|cell death (GO:0008219)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network transport vesicle (GO:0030140)	CD4 receptor binding (GO:0042609)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10						TACATAAAGATTGACCTCTGC	0.423																																						ENST00000559199.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10						c.(334-336)aAt>aGt		spastic paraplegia 21 (autosomal recessive, Mast syndrome)							114.0	98.0	103.0					15																	65257674		2202	4299	6501	SO:0001583	missense	51324				cell death	cytosol|endosome membrane|trans-Golgi network transport vesicle	CD4 receptor binding	g.chr15:65257674T>C	AF208861	CCDS10198.1, CCDS45279.1	15q21-q22	2008-02-05	2007-04-23		ENSG00000090487	ENSG00000090487			20373	protein-coding gene	gene with protein product	"""maspardin"""	608181				11113139, 14564668	Standard	XM_006720564		Approved	ACP33, GL010, BM-019, MAST	uc002aoe.3	Q9NZD8	OTTHUMG00000133098	ENST00000204566.2:c.797A>G	15.37:g.65257674T>C	ENSP00000204566:p.Asn266Ser					SPG21_ENST00000204566.2_Missense_Mutation_p.N266S|SPG21_ENST00000433215.2_Missense_Mutation_p.N266S|SPG21_ENST00000416889.2_Missense_Mutation_p.N239S	p.N112S			Q9NZD8	SPG21_HUMAN			6	1335	-			266					B4DW44|Q6ZMB6	Missense_Mutation	SNP	ENST00000204566.2	37	c.335A>G	CCDS10198.1	.	.	.	.	.	.	.	.	.	.	T	19.88	3.909532	0.72868	.	.	ENSG00000090487	ENST00000204566;ENST00000416889;ENST00000433215	T;T	0.31769	1.48;1.48	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.46852	0.1414	M	0.78637	2.42	0.80722	D	1	B;B	0.25007	0.078;0.116	B;B	0.39503	0.139;0.301	T	0.48559	-0.9025	10	0.66056	D	0.02	-10.8186	15.3978	0.74812	0.0:0.0:0.0:1.0	.	239;266	Q9NZD8-2;Q9NZD8	.;SPG21_HUMAN	S	266;239;266	ENSP00000204566:N266S;ENSP00000404111:N266S	ENSP00000204566:N266S	N	-	2	0	SPG21	63044727	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	7.958000	0.87877	2.231000	0.72958	0.533000	0.62120	AAT		0.423	SPG21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256758.3	NM_016630		15	50	0	0	0	1	0	15	50				
CROCCP2	84809	broad.mit.edu	37	1	16946438	16946438	+	lincRNA	SNP	G	G	A	rs28392876	byFrequency	TCGA-J8-A3YF-01A-12D-A23M-08	TCGA-J8-A3YF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ef9ead-6e4c-4ba0-ad48-e15384200468	412691cf-393d-4275-803e-b063ab91bf0d	g.chr1:16946438G>A	ENST00000412962.1	-	0	1081				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											GCCTTCCGCCGGGCCAGCAGC	0.672																																						ENST00000412962.1																			0																																																			0							g.chr1:16946438G>A	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946438G>A														0	1081	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		4	47	0	0	0	1	0	4	47				
RNMT	8731	broad.mit.edu	37	18	13734551	13734551	+	Missense_Mutation	SNP	T	T	A			TCGA-J8-A3YF-01A-12D-A23M-08	TCGA-J8-A3YF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ef9ead-6e4c-4ba0-ad48-e15384200468	412691cf-393d-4275-803e-b063ab91bf0d	g.chr18:13734551T>A	ENST00000383314.2	+	4	746	c.506T>A	c.(505-507)aTt>aAt	p.I169N	RNMT_ENST00000589866.1_Missense_Mutation_p.I169N|RNMT_ENST00000262173.3_Missense_Mutation_p.I169N|RNMT_ENST00000535051.1_5'UTR|RNMT_ENST00000543302.2_Missense_Mutation_p.I169N|RNMT_ENST00000592764.1_Missense_Mutation_p.I169N			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	169	mRNA cap 0 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00895}.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA (guanine-N7)-methylation (GO:0036265)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|receptor complex (GO:0043235)	mRNA (guanine-N7-)-methyltransferase activity (GO:0004482)|RNA binding (GO:0003723)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						CAAAGTCGTATTTTTTACCTA	0.353																																					GBM(29;474 594 19092 36647 41529)	ENST00000383314.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						c.(505-507)aTt>aAt		RNA (guanine-7-) methyltransferase							103.0	105.0	104.0					18																	13734551		2203	4300	6503	SO:0001583	missense	8731				mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding	g.chr18:13734551T>A	AF067791	CCDS11867.1	18p11.21	2008-05-14			ENSG00000101654	ENSG00000101654	2.1.1.56		10075	protein-coding gene	gene with protein product		603514				9828141, 9705270	Standard	NM_003799		Approved	RG7MT1	uc002ksl.1	O43148	OTTHUMG00000131718	ENST00000383314.2:c.506T>A	18.37:g.13734551T>A	ENSP00000372804:p.Ile169Asn					RNMT_ENST00000589866.1_Missense_Mutation_p.I169N|RNMT_ENST00000592764.1_Missense_Mutation_p.I169N|RNMT_ENST00000543302.2_Missense_Mutation_p.I169N|RNMT_ENST00000535051.1_5'UTR|RNMT_ENST00000262173.3_Missense_Mutation_p.I169N	p.I169N			O43148	MCES_HUMAN			4	746	+			169					B0YJ90|D3DUJ5|O94996|Q9UIJ9	Missense_Mutation	SNP	ENST00000383314.2	37	c.506T>A	CCDS11867.1	.	.	.	.	.	.	.	.	.	.	T	27.2	4.808951	0.90707	.	.	ENSG00000101654	ENST00000383314;ENST00000543302;ENST00000262173	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.84813	0.5555	M	0.89353	3.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87710	0.2566	9	0.87932	D	0	-2.0513	16.3317	0.83023	0.0:0.0:0.0:1.0	.	169;169	O43148-2;O43148	.;MCES_HUMAN	N	169	.	ENSP00000262173:I169N	I	+	2	0	RNMT	13724551	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.270000	0.78493	2.264000	0.75181	0.533000	0.62120	ATT		0.353	RNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254636.1	NM_003799		20	28	0	0	0	1	0	20	28				
KIAA1211	57482	broad.mit.edu	37	4	57182015	57182015	+	Missense_Mutation	SNP	G	G	A			TCGA-J8-A3YF-01A-12D-A23M-08	TCGA-J8-A3YF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ef9ead-6e4c-4ba0-ad48-e15384200468	412691cf-393d-4275-803e-b063ab91bf0d	g.chr4:57182015G>A	ENST00000504228.1	+	6	2452	c.2347G>A	c.(2347-2349)Gca>Aca	p.A783T	KIAA1211_ENST00000264229.6_Missense_Mutation_p.A783T|KIAA1211_ENST00000541073.1_Missense_Mutation_p.A776T			Q6ZU35	K1211_HUMAN	KIAA1211	783										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CCGGGAGCCCGCAGACACCAC	0.617																																						ENST00000504228.1																			0				endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65						c.(2347-2349)Gca>Aca		KIAA1211							70.0	84.0	79.0					4																	57182015		1993	4171	6164	SO:0001583	missense	57482							g.chr4:57182015G>A	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.2347G>A	4.37:g.57182015G>A	ENSP00000423366:p.Ala783Thr					KIAA1211_ENST00000264229.6_Missense_Mutation_p.A783T|KIAA1211_ENST00000541073.1_Missense_Mutation_p.A776T	p.A783T			Q6ZU35	K1211_HUMAN			6	2452	+	Glioma(25;0.08)|all_neural(26;0.101)		783					Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	c.2347G>A	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.931056	0.34096	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.11277	2.79;2.79;2.79	4.69	-8.05	0.01106	.	.	.	.	.	T	0.02230	0.0069	N	0.02539	-0.55	0.09310	N	1	P;P;P	0.38455	0.632;0.632;0.632	B;B;B	0.25884	0.03;0.03;0.064	T	0.32693	-0.9897	9	0.02654	T	1	-0.1679	12.4438	0.55639	0.6539:0.0837:0.2624:0.0	.	776;776;783	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	T	783;783;776;693	ENSP00000264229:A783T;ENSP00000423366:A783T;ENSP00000444006:A776T	ENSP00000264229:A783T	A	+	1	0	KIAA1211	56876772	0.000000	0.05858	0.000000	0.03702	0.410000	0.31052	0.065000	0.14466	-2.074000	0.00877	0.561000	0.74099	GCA		0.617	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		35	69	0	0	0	1	0	35	69				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-J8-A3YF-01A-12D-A23M-08	TCGA-J8-A3YF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ef9ead-6e4c-4ba0-ad48-e15384200468	412691cf-393d-4275-803e-b063ab91bf0d	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		19	52	0	0	0	1	0	19	52				
LILRP2	79166	broad.mit.edu	37	19	55221559	55221559	+	RNA	SNP	G	G	T			TCGA-J8-A3YF-01A-12D-A23M-08	TCGA-J8-A3YF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ef9ead-6e4c-4ba0-ad48-e15384200468	412691cf-393d-4275-803e-b063ab91bf0d	g.chr19:55221559G>T	ENST00000413439.1	+	0	1339									leukocyte immunoglobulin-like receptor pseudogene 2																		ACGGGGGCCAGTACAGATGCT	0.672																																					Ovarian(107;788 1543 20399 31552 46707)	ENST00000413439.1																			0																																																			0							g.chr19:55221559G>T	AF072100		19q13.4	2010-02-17			ENSG00000240258	ENSG00000170858		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"""	15497	pseudogene	pseudogene						10941842	Standard	NR_003061		Approved	ILT10, CD85m	uc002qgs.1		OTTHUMG00000065886		19.37:g.55221559G>T														0	1339	+									RNA	SNP	ENST00000413439.1	37																																																																																						0.672	LILRP2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000141240.2	NM_024317		4	64	1	0	0.0215528	1	0.0220784	4	64				
UBXN2B	137886	broad.mit.edu	37	8	59347057	59347057	+	Missense_Mutation	SNP	A	A	G			TCGA-J8-A3YF-01A-12D-A23M-08	TCGA-J8-A3YF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ef9ead-6e4c-4ba0-ad48-e15384200468	412691cf-393d-4275-803e-b063ab91bf0d	g.chr8:59347057A>G	ENST00000399598.2	+	5	649	c.527A>G	c.(526-528)aAg>aGg	p.K176R	UBXN2B_ENST00000522978.1_3'UTR	NM_001077619.1	NP_001071087.1	Q14CS0	UBX2B_HUMAN	UBX domain protein 2B	176	SEP. {ECO:0000255|PROSITE- ProRule:PRU00732}.					endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						GAGTCTGTTAAGAGAGGGTAA	0.348																																						ENST00000399598.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(526-528)aAg>aGg		UBX domain protein 2B							85.0	79.0	81.0					8																	59347057		1827	4082	5909	SO:0001583	missense	137886					cytosol|endoplasmic reticulum|Golgi apparatus|nucleus		g.chr8:59347057A>G	AK054658	CCDS43741.1	8q12.1	2008-08-08			ENSG00000215114	ENSG00000215114		"""UBX domain containing"""	27035	protein-coding gene	gene with protein product		610686				8619474, 9110174	Standard	NM_001077619		Approved	p37	uc003xtl.3	Q14CS0	OTTHUMG00000164300	ENST00000399598.2:c.527A>G	8.37:g.59347057A>G	ENSP00000382507:p.Lys176Arg					UBXN2B_ENST00000522978.1_3'UTR	p.K176R	NM_001077619.1	NP_001071087.1	Q14CS0	UBX2B_HUMAN			5	649	+			176			SEP.		B3KWZ3	Missense_Mutation	SNP	ENST00000399598.2	37	c.527A>G	CCDS43741.1	.	.	.	.	.	.	.	.	.	.	A	10.15	1.271919	0.23221	.	.	ENSG00000215114	ENST00000399598	T	0.41758	0.99	5.78	5.78	0.91487	SEP domain (4);	0.000000	0.47093	U	0.000248	T	0.23171	0.0560	N	0.05158	-0.105	0.36752	D	0.88281	P	0.36199	0.543	B	0.39660	0.306	T	0.21415	-1.0246	10	0.02654	T	1	-16.8215	14.3498	0.66694	1.0:0.0:0.0:0.0	.	176	Q14CS0	UBX2B_HUMAN	R	176	ENSP00000382507:K176R	ENSP00000382507:K176R	K	+	2	0	UBXN2B	59509611	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	6.707000	0.74654	2.205000	0.71048	0.482000	0.46254	AAG		0.348	UBXN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378184.1	NM_001077619		11	23	0	0	0	1	0	11	23				
KNCN	148930	broad.mit.edu	37	1	47013416	47013416	+	Frame_Shift_Del	DEL	C	C	-			TCGA-J8-A3YF-01A-12D-A23M-08	TCGA-J8-A3YF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ef9ead-6e4c-4ba0-ad48-e15384200468	412691cf-393d-4275-803e-b063ab91bf0d	g.chr1:47013416delC	ENST00000481882.2	-	4	672	c.361delG	c.(361-363)gctfs	p.A121fs	KNCN_ENST00000524908.1_5'UTR|MKNK1-AS1_ENST00000602433.1_RNA|KNCN_ENST00000396314.3_Frame_Shift_Del_p.A98fs			A6PVL3	KNCN_HUMAN	kinocilin	121						apical plasma membrane (GO:0016324)|ciliary basal body (GO:0036064)|cuticular plate (GO:0032437)|integral component of membrane (GO:0016021)|kinocilium (GO:0060091)|neuronal cell body (GO:0043025)				central_nervous_system(1)|endometrium(1)|lung(1)|ovary(1)	4	Acute lymphoblastic leukemia(166;0.155)					CATTCCTCAGCCCCCCGGGTC	0.672																																						ENST00000481882.2																			0				central_nervous_system(1)|endometrium(1)|lung(1)|ovary(1)	4						c.(361-363)ctfs		kinocilin				10,9,4111		2,0,6,1,7,2049	12.0	13.0	12.0			3.7	0.4	1		12	0,6,8016		0,0,0,0,6,4005	no	codingComplex	KNCN	NM_001097611.1		2,0,6,1,13,6054	A1A1,A1A2,A1R,A2A2,A2R,RR		0.0748,0.46,0.2057			47013416	10,15,12127	2154	4216	6370	SO:0001589	frameshift_variant	148930					integral to membrane		g.chr1:47013416delC	AK056573	CCDS44133.1	1p33	2014-02-12	2006-10-26		ENSG00000162456	ENSG00000162456			26488	protein-coding gene	gene with protein product		611455				15855039	Standard	NM_001097611		Approved	FLJ32011, KINO, L5	uc001cpy.2	A6PVL3	OTTHUMG00000007987	ENST00000481882.2:c.361delG	1.37:g.47013416delC	ENSP00000419705:p.Ala121fs					KNCN_ENST00000396314.3_Frame_Shift_Del_p.A98fs|MKNK1-AS1_ENST00000602433.1_RNA|KNCN_ENST00000524908.1_5'UTR	p.A121fs			A6PVL3	KNCN_HUMAN			4	672	-	Acute lymphoblastic leukemia(166;0.155)		121					A8MXE3	Frame_Shift_Del	DEL	ENST00000481882.2	37	c.361delG																																																																																					0.672	KNCN-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000316334.2	NM_182516		2	4						2	4	---	---	---	---
POT1-AS1	401398	broad.mit.edu	37	7	124674953	124674953	+	RNA	DEL	C	C	-			TCGA-J8-A3YF-01A-12D-A23M-08	TCGA-J8-A3YF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ef9ead-6e4c-4ba0-ad48-e15384200468	412691cf-393d-4275-803e-b063ab91bf0d	g.chr7:124674953delC	ENST00000453342.1	+	0	614				RP11-3B12.1_ENST00000435452.2_RNA|RP11-3B12.1_ENST00000449642.1_RNA|RP11-3B12.1_ENST00000415715.1_RNA|RP11-3B12.1_ENST00000429134.1_RNA																							AGGACACACTCCTTGTGGCAC	0.537																																						ENST00000453342.1																			0																																																			0							g.chr7:124674953delC																													7.37:g.124674953delC														0	614	+									RNA	DEL	ENST00000453342.1	37																																																																																						0.537	RP11-3B12.1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000347736.1			2	4						2	4	---	---	---	---
UTP20	27340	broad.mit.edu	37	12	101680156	101680157	+	Frame_Shift_Ins	INS	-	-	T			TCGA-J8-A3YF-01A-12D-A23M-08	TCGA-J8-A3YF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ef9ead-6e4c-4ba0-ad48-e15384200468	412691cf-393d-4275-803e-b063ab91bf0d	g.chr12:101680156_101680157insT	ENST00000261637.4	+	5	558_559	c.384_385insT	c.(385-387)tttfs	p.F129fs		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	129					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						ACTTTCCAGAGTTTTTTTTGAC	0.396																																						ENST00000261637.4																			0				NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(382-387)gattttfs		UTP20, small subunit (SSU) processome component, homolog (yeast)																																				SO:0001589	frameshift_variant	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101680156_101680157insT	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.392dupT	12.37:g.101680164_101680164dupT	ENSP00000261637:p.Phe129fs						p.DF128fs	NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN			5	558_559	+			128					Q9H3H4	Frame_Shift_Ins	INS	ENST00000261637.4	37	c.384_385insT	CCDS9081.1																																																																																				0.396	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		10	258						10	258	---	---	---	---
RP11-478C19.2	0	broad.mit.edu	37	12	110868215	110868216	+	RNA	DEL	GT	GT	-	rs113592903		TCGA-J8-A3YF-01A-12D-A23M-08	TCGA-J8-A3YF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ef9ead-6e4c-4ba0-ad48-e15384200468	412691cf-393d-4275-803e-b063ab91bf0d	g.chr12:110868215_110868216delGT	ENST00000550231.1	-	0	97																											CAgtgtgtgcgtgtgtgtgtgt	0.49																																						ENST00000550231.1																			0																																																			0							g.chr12:110868215_110868216delGT																													12.37:g.110868225_110868226delGT														0	97	-									RNA	DEL	ENST00000550231.1	37																																																																																						0.490	RP11-478C19.2-001	KNOWN	basic|readthrough_transcript	retained_intron	processed_transcript	OTTHUMT00000404601.1			2	4						2	4	---	---	---	---
