#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
EXT2	2132	broad.mit.edu	37	11	44228397	44228397	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr11:44228397A>T	ENST00000343631.3	+	10	1679	c.1550A>T	c.(1549-1551)aAc>aTc	p.N517I	EXT2_ENST00000395673.3_Missense_Mutation_p.N550I|EXT2_ENST00000533608.1_Missense_Mutation_p.N517I|EXT2_ENST00000358681.4_Missense_Mutation_p.N527I			Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	517	Substrate binding. {ECO:0000250|UniProtKB:Q9ES89}.				carbohydrate metabolic process (GO:0005975)|cell differentiation (GO:0030154)|cellular polysaccharide biosynthetic process (GO:0033692)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm formation (GO:0001707)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|transferase activity, transferring glycosyl groups (GO:0016757)	p.N517S(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						ACTGCTGAAAACAAGTTAAGT	0.403			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses																													ENST00000395673.3			yes	Rec		Multiple Exostoses Type 2	11	11p12-p11	2132	"""Mis, N, F, S"""	multiple exostoses type 2 gene			M		"""exostoses, osteosarcoma"""			1	Substitution - Missense(1)	p.N517S(1)	skin(1)	breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						c.(1648-1650)aAc>aTc		exostosin glycosyltransferase 2							128.0	126.0	127.0					11																	44228397		2203	4299	6502	SO:0001583	missense	2132	Hereditary Multiple Exostoses	Familial Cancer Database	HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity	g.chr11:44228397A>T		CCDS7908.1, CCDS53618.1, CCDS53619.1	11p12-p11	2014-09-17	2013-03-01		ENSG00000151348	ENSG00000151348	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3513	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608210	"""exostoses (multiple) 2"", ""exostosin 2"""			8162019, 9576285	Standard	NM_000401		Approved	SOTV	uc001mya.3	Q93063	OTTHUMG00000166498	ENST00000343631.3:c.1550A>T	11.37:g.44228397A>T	ENSP00000342656:p.Asn517Ile					EXT2_ENST00000358681.4_Missense_Mutation_p.N527I|EXT2_ENST00000343631.3_Missense_Mutation_p.N517I|EXT2_ENST00000533608.1_Missense_Mutation_p.N517I	p.N550I	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN			10	1705	+			517					B2R5Z6|C9JU51|J3KPT2|O15288	Missense_Mutation	SNP	ENST00000343631.3	37	c.1649A>T	CCDS7908.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.250542	0.80024	.	.	ENSG00000151348	ENST00000533608;ENST00000358681;ENST00000395673;ENST00000343631	D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64	5.81	5.81	0.92471	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.93190	0.7831	M	0.92122	3.275	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;0.999;1.0	D	0.94666	0.7852	10	0.87932	D	0	-1.636	16.1699	0.81801	1.0:0.0:0.0:0.0	.	517;527;527;517;530	Q6NUL1;C9JU51;Q93063-2;Q93063;D3DR24	.;.;.;EXT2_HUMAN;.	I	517;527;550;517	ENSP00000431173:N517I;ENSP00000351509:N527I;ENSP00000379032:N550I;ENSP00000342656:N517I	ENSP00000342656:N517I	N	+	2	0	EXT2	44184973	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	9.210000	0.95106	2.217000	0.71921	0.533000	0.62120	AAC		0.403	EXT2-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390074.1	NM_000401		4	129	0	0	0	1	0	4	129				
CD96	10225	broad.mit.edu	37	3	111298010	111298010	+	Missense_Mutation	SNP	G	G	A	rs143049331	byFrequency	TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr3:111298010G>A	ENST00000283285.5	+	5	859	c.728G>A	c.(727-729)cGg>cAg	p.R243Q	CD96_ENST00000438817.2_Missense_Mutation_p.R227Q|CD96_ENST00000352690.4_Missense_Mutation_p.R227Q	NM_198196.2	NP_937839.1	P40200	TACT_HUMAN	CD96 molecule	243					cell adhesion (GO:0007155)|immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						GATGATGGGCGGAAGTTCTCT	0.448									Opitz Trigonocephaly syndrome				G|||	5	0.000998403	0.0	0.0	5008	,	,		20029	0.005		0.0	False		,,,				2504	0.0					ENST00000352690.4																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						c.(679-681)cGg>cAg		CD96 molecule							113.0	109.0	110.0					3																	111298010		2203	4300	6503	SO:0001583	missense	0	Opitz Trigonocephaly syndrome	Familial Cancer Database	C syndrome, Trigonocephaly syndrome	cell adhesion|immune response|regulation of immune response	integral to plasma membrane		g.chr3:111298010G>A	M88282	CCDS2958.1, CCDS2959.1	3p13-q13.2	2013-01-11	2006-03-28		ENSG00000153283	ENSG00000153283		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16892	protein-coding gene	gene with protein product		606037	"""CD96 antigen"""			1313846	Standard	XR_241462		Approved	TACTILE	uc003dxx.3	P40200	OTTHUMG00000159275	ENST00000283285.5:c.728G>A	3.37:g.111298010G>A	ENSP00000283285:p.Arg243Gln					CD96_ENST00000283285.5_Missense_Mutation_p.R243Q|CD96_ENST00000438817.2_Missense_Mutation_p.R227Q	p.R227Q	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN			4	920	+			243			Ig-like V-type 2.		Q5JPB3	Missense_Mutation	SNP	ENST00000283285.5	37	c.680G>A	CCDS2959.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	4.512	0.094975	0.08681	.	.	ENSG00000153283	ENST00000352690;ENST00000283285;ENST00000438817	T;T;T	0.68025	-0.28;-0.3;-0.23	5.18	-1.2	0.09554	Immunoglobulin subtype (1);	0.712736	0.11972	N	0.511705	T	0.39064	0.1064	N	0.17082	0.46	0.09310	N	1	B;B;B;B	0.32753	0.113;0.18;0.024;0.383	B;B;B;B	0.24155	0.012;0.027;0.003;0.051	T	0.13710	-1.0499	10	0.30078	T	0.28	0.0223	3.6437	0.08177	0.315:0.0:0.417:0.2679	.	227;227;243;227	E9PEJ1;P40200-2;P40200;Q8WUE2	.;.;TACT_HUMAN;.	Q	227;243;227	ENSP00000342040:R227Q;ENSP00000283285:R243Q;ENSP00000389801:R227Q	ENSP00000283285:R243Q	R	+	2	0	CD96	112780700	0.000000	0.05858	0.003000	0.11579	0.000000	0.00434	-1.026000	0.03596	-0.508000	0.06540	-1.911000	0.00521	CGG		0.448	CD96-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354312.2			3	127	0	0	0	1	0	3	127				
PHLDB1	23187	broad.mit.edu	37	11	118498834	118498834	+	Missense_Mutation	SNP	G	G	T	rs141245340		TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr11:118498834G>T	ENST00000361417.2	+	7	1706	c.1295G>T	c.(1294-1296)gGg>gTg	p.G432V	PHLDB1_ENST00000356063.5_Missense_Mutation_p.G432V	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	432										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TTTTCAGATGGGTTAGCCACC	0.642																																						ENST00000361417.2																			0				breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46						c.(1294-1296)gGg>gTg		pleckstrin homology-like domain, family B, member 1							69.0	77.0	74.0					11																	118498834		2200	4295	6495	SO:0001583	missense	23187							g.chr11:118498834G>T		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.1295G>T	11.37:g.118498834G>T	ENSP00000354498:p.Gly432Val					PHLDB1_ENST00000356063.5_Missense_Mutation_p.G432V	p.G432V	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	7	1706	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)	432					B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Missense_Mutation	SNP	ENST00000361417.2	37	c.1295G>T	CCDS8401.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.256015	0.22965	.	.	ENSG00000019144	ENST00000361417;ENST00000361465;ENST00000356063	T;T	0.30182	1.54;1.56	4.79	4.79	0.61399	.	0.519199	0.19915	N	0.103201	T	0.31263	0.0791	L	0.47716	1.5	0.80722	D	1	P;P;B	0.46512	0.763;0.879;0.18	B;B;B	0.42827	0.229;0.399;0.048	T	0.10177	-1.0641	10	0.62326	D	0.03	-39.2094	13.5965	0.61994	0.0:0.1547:0.8453:0.0	.	432;432;432	Q86UU1-3;Q86UU1-2;Q86UU1	.;.;PHLB1_HUMAN	V	432;191;432	ENSP00000354498:G432V;ENSP00000348359:G432V	ENSP00000348359:G432V	G	+	2	0	PHLDB1	118004044	0.057000	0.20700	0.995000	0.50966	0.981000	0.71138	0.236000	0.17967	2.507000	0.84556	0.462000	0.41574	GGG		0.642	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		5	171	1	0	1.23904e-05	1	1.3263e-05	5	171				
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	83								p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A83T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(247-249)Gcc>Acc																																						SO:0001583	missense	0							g.chr20:29628245G>A			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.247G>A	20.37:g.29628245G>A	ENSP00000278882:p.Ala83Thr					FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T	p.A83T							6	627	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.247G>A		.	.	.	.	.	.	.	.	.	.	g	18.80	3.700173	0.68501	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50277	0.75	2.08	2.08	0.27032	Actin cross-linking (1);	0.055129	0.64402	D	0.000001	T	0.40473	0.1118	.	.	.	0.51482	D	0.99992	B;P	0.40875	0.016;0.731	B;P	0.45558	0.085;0.485	T	0.12502	-1.0545	9	0.21540	T	0.41	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	88;83	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	T	83;88;83	ENSP00000408863:A88T	ENSP00000278882:A83T	A	+	1	0	FRG1B	28241906	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCC		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	223	0	0	0	1	0	4	223				
CPAMD8	27151	broad.mit.edu	37	19	17068665	17068665	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr19:17068665G>C	ENST00000443236.1	-	19	2446	c.2415C>G	c.(2413-2415)atC>atG	p.I805M	CPAMD8_ENST00000388925.4_3'UTR	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	758						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TAATGTACCTGATGTTGAGAC	0.438																																						ENST00000443236.1																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.(2413-2415)atC>atG		C3 and PZP-like, alpha-2-macroglobulin domain containing 8							240.0	226.0	231.0					19																	17068665		1962	4153	6115	SO:0001583	missense	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17068665G>C	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.2415C>G	19.37:g.17068665G>C	ENSP00000402505:p.Ile805Met					CPAMD8_ENST00000388925.4_3'UTR	p.I805M	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN			19	2446	-			758					Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	c.2415C>G	CCDS42519.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.97|16.97	3.269164|3.269164	0.59540|0.59540	.|.	.|.	ENSG00000160111|ENSG00000160111	ENST00000291440|ENST00000443236	.|.	.|.	.|.	3.34|3.34	3.34|3.34	0.38264|0.38264	Alpha-2-macroglobulin (1);|.	0.320745|.	0.23830|.	U|.	0.044152|.	T|.	0.54143|.	0.1840|.	L|L	0.41124|0.41124	1.26|1.26	0.80722|0.80722	D|D	1|1	D|.	0.60575|.	0.988|.	P|.	0.62298|.	0.9|.	T|.	0.49542|.	-0.8929|.	9|.	0.72032|.	D|.	0.01|.	.|.	10.1596|10.1596	0.42844|0.42844	0.0:0.0:0.8004:0.1996|0.0:0.0:0.8004:0.1996	.|.	758|.	Q8IZJ3|.	CPMD8_HUMAN|.	M|X	805|816	.|.	ENSP00000291440:I805M|.	I|S	-|-	3|2	3|0	CPAMD8|CPAMD8	16929665|16929665	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.748000|0.748000	0.42578|0.42578	5.550000|5.550000	0.67268|0.67268	1.440000|1.440000	0.47531|0.47531	0.591000|0.591000	0.81541|0.81541	ATC|TCA		0.438	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		5	345	0	0	0	1	0	5	345				
BAI1	575	broad.mit.edu	37	8	143558610	143558610	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr8:143558610G>A	ENST00000517894.1	+	5	2087	c.1193G>A	c.(1192-1194)cGg>cAg	p.R398Q	BAI1_ENST00000323289.5_Missense_Mutation_p.R398Q			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	398	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CGCGAGCAGCGGCTGTGCAAC	0.731																																						ENST00000517894.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57						c.(1192-1194)cGg>cAg		brain-specific angiogenesis inhibitor 1							16.0	20.0	19.0					8																	143558610		2056	4176	6232	SO:0001583	missense	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143558610G>A	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.1193G>A	8.37:g.143558610G>A	ENSP00000430945:p.Arg398Gln					BAI1_ENST00000323289.5_Missense_Mutation_p.R398Q	p.R398Q			O14514	BAI1_HUMAN			5	2087	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		398			TSP type-1 2.			Missense_Mutation	SNP	ENST00000517894.1	37	c.1193G>A		.	.	.	.	.	.	.	.	.	.	G	31	5.090074	0.94149	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.49720	0.77;0.77	4.44	4.44	0.53790	.	0.000000	0.64402	U	0.000002	T	0.48660	0.1512	N	0.25789	0.76	0.44843	D	0.997857	D	0.71674	0.998	P	0.59948	0.866	T	0.48043	-0.9069	10	0.51188	T	0.08	.	10.1585	0.42838	0.0936:0.0:0.9064:0.0	.	398	E9PBK0	.	Q	398	ENSP00000430945:R398Q;ENSP00000313046:R398Q	ENSP00000313046:R398Q	R	+	2	0	BAI1	143555612	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.674000	0.83992	2.152000	0.67230	0.561000	0.74099	CGG		0.731	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		3	65	0	0	0	1	0	3	65				
POU4F2	5458	broad.mit.edu	37	4	147561255	147561255	+	Silent	SNP	C	C	T			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr4:147561255C>T	ENST00000281321.3	+	2	773	c.525C>T	c.(523-525)caC>caT	p.H175H	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	175	Poly-His.				axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					accaccaccaccatcaccacc	0.682																																						ENST00000281321.3																			0				NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33						c.(523-525)caC>caT		POU class 4 homeobox 2							48.0	49.0	49.0					4																	147561255		2203	4299	6502	SO:0001819	synonymous_variant	5458				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr4:147561255C>T	U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.525C>T	4.37:g.147561255C>T							p.H175H	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN			2	773	+	all_hematologic(180;0.151)		175			Poly-His.		B1PJR6|B2RC84|Q13883|Q14987	Silent	SNP	ENST00000281321.3	37	c.525C>T	CCDS34074.1																																																																																				0.682	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575		3	34	0	0	0	1	0	3	34				
ATP9A	10079	broad.mit.edu	37	20	50234090	50234090	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr20:50234090T>C	ENST00000338821.5	-	22	2618	c.2354A>G	c.(2353-2355)gAc>gGc	p.D785G	ATP9A_ENST00000402822.1_Missense_Mutation_p.D664G|ATP9A_ENST00000311637.5_Missense_Mutation_p.D649G	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	785					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ATTGCCTCCGTCCCCTGCGAG	0.517																																						ENST00000338821.5																			0				breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(2353-2355)gAc>gGc		ATPase, class II, type 9A							101.0	65.0	77.0					20																	50234090		2203	4300	6503	SO:0001583	missense	10079				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr20:50234090T>C	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.2354A>G	20.37:g.50234090T>C	ENSP00000342481:p.Asp785Gly					ATP9A_ENST00000311637.5_Missense_Mutation_p.D649G|ATP9A_ENST00000402822.1_Missense_Mutation_p.D664G	p.D785G	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN			22	2618	-			785					E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	37	c.2354A>G	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.271140	0.80469	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	D;D;D	0.97831	-4.56;-4.56;-4.56	5.15	5.15	0.70609	HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.99360	0.9775	H	0.99379	4.54	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.97110	0.981;1.0	D	0.98175	1.0454	10	0.87932	D	0	-33.5399	14.9532	0.71091	0.0:0.0:0.0:1.0	.	664;785	O75110-2;O75110	.;ATP9A_HUMAN	G	649;785;664	ENSP00000309086:D649G;ENSP00000342481:D785G;ENSP00000385875:D664G	ENSP00000309086:D649G	D	-	2	0	ATP9A	49667497	1.000000	0.71417	0.614000	0.29051	0.619000	0.37552	7.584000	0.82572	1.923000	0.55706	0.418000	0.28097	GAC		0.517	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		3	27	0	0	0	1	0	3	27				
XKR6	286046	broad.mit.edu	37	8	10755515	10755515	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr8:10755515A>C	ENST00000416569.2	-	3	1899	c.1873T>G	c.(1873-1875)Tat>Gat	p.Y625D	XKR6_ENST00000304437.2_Missense_Mutation_p.Y346D	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	625						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		CCGTCTCGATATCGAATGCCT	0.468																																						ENST00000416569.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31						c.(1873-1875)Tat>Gat		XK, Kell blood group complex subunit-related family, member 6							125.0	116.0	119.0					8																	10755515		2203	4300	6503	SO:0001583	missense	286046					integral to membrane		g.chr8:10755515A>C	BC024146	CCDS5978.2	8p23.1	2009-05-27	2006-01-12	2005-07-28	ENSG00000171044	ENSG00000171044			27806	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 7"", ""chromosome 8 open reading frame 21"", ""X Kell blood group precursor-related family, member 6"", ""chromosome 8 open reading frame 5"""	C8orf7, C8orf21, C8orf5			Standard	NM_173683		Approved		uc003wtk.1	Q5GH73	OTTHUMG00000129351	ENST00000416569.2:c.1873T>G	8.37:g.10755515A>C	ENSP00000416707:p.Tyr625Asp					XKR6_ENST00000304437.2_Missense_Mutation_p.Y346D	p.Y625D	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN		Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)	3	1899	-			625					Q8TBA0	Missense_Mutation	SNP	ENST00000416569.2	37	c.1873T>G	CCDS5978.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.93|15.93	2.978415|2.978415	0.53720|0.53720	.|.	.|.	ENSG00000171044|ENSG00000171044	ENST00000382461|ENST00000304437;ENST00000416569	.|D;D	.|0.94000	.|-3.11;-3.33	4.55|4.55	4.55|4.55	0.56014|0.56014	.|.	.|0.135739	.|0.51477	.|D	.|0.000086	D|D	0.96037|0.96037	0.8709|0.8709	M|M	0.73962|0.73962	2.25|2.25	0.58432|0.58432	D|D	0.999991|0.999991	.|D	.|0.76494	.|0.999	.|D	.|0.80764	.|0.994	D|D	0.96450|0.96450	0.9333|0.9333	5|10	.|0.87932	.|D	.|0	-7.7754|-7.7754	13.2781|13.2781	0.60198|0.60198	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|625	.|Q5GH73	.|XKR6_HUMAN	E|D	401|346;625	.|ENSP00000307120:Y346D;ENSP00000416707:Y625D	.|ENSP00000307120:Y346D	D|Y	-|-	3|1	2|0	XKR6|XKR6	10792925|10792925	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.123000|9.123000	0.94387|0.94387	1.911000|1.911000	0.55334|0.55334	0.449000|0.449000	0.29647|0.29647	GAT|TAT		0.468	XKR6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383958.1	NM_173683		4	130	0	0	0	1	0	4	130				
MTF1	4520	broad.mit.edu	37	1	38288086	38288086	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr1:38288086G>A	ENST00000373036.4	-	9	1614	c.1474C>T	c.(1474-1476)Ccg>Tcg	p.P492S		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	492	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cadmium ion (GO:0046686)|response to metal ion (GO:0010038)|response to oxidative stress (GO:0006979)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ATGGGCTGCGGTGCCTGGGGG	0.572																																						ENST00000373036.4																			0				endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31						c.(1474-1476)Ccg>Tcg		metal-regulatory transcription factor 1							42.0	40.0	41.0					1																	38288086		2203	4300	6503	SO:0001583	missense	4520					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding	g.chr1:38288086G>A	BC014454	CCDS30676.1	1p33	2008-02-05			ENSG00000188786	ENSG00000188786			7428	protein-coding gene	gene with protein product		600172				8065932	Standard	NM_005955		Approved		uc001cce.1	Q14872	OTTHUMG00000004439	ENST00000373036.4:c.1474C>T	1.37:g.38288086G>A	ENSP00000362127:p.Pro492Ser						p.P492S	NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN			9	1614	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	492			Pro-rich.		B2RAK6|Q96CB1	Missense_Mutation	SNP	ENST00000373036.4	37	c.1474C>T	CCDS30676.1	.	.	.	.	.	.	.	.	.	.	G	11.68	1.712179	0.30322	.	.	ENSG00000188786	ENST00000373036	T	0.09817	2.94	6.17	5.25	0.73442	.	0.334492	0.36167	N	0.002757	T	0.09423	0.0232	L	0.38838	1.175	0.41763	D	0.989722	B	0.28713	0.22	B	0.25140	0.058	T	0.22417	-1.0217	10	0.23891	T	0.37	.	12.3594	0.55194	0.0:0.1285:0.7378:0.1337	.	492	Q14872	MTF1_HUMAN	S	492	ENSP00000362127:P492S	ENSP00000362127:P492S	P	-	1	0	MTF1	38060673	1.000000	0.71417	0.941000	0.38009	0.918000	0.54935	4.927000	0.63440	1.586000	0.49944	0.655000	0.94253	CCG		0.572	MTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012984.2	NM_005955		3	33	0	0	0	1	0	3	33				
RAMP3	10268	broad.mit.edu	37	7	45222942	45222942	+	Silent	SNP	C	C	T			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr7:45222942C>T	ENST00000242249.4	+	3	416	c.378C>T	c.(376-378)ccC>ccT	p.P126P	RAMP3_ENST00000481345.1_Silent_p.P126P|RAMP3_ENST00000496212.1_Silent_p.P126P	NM_005856.2	NP_005847.1	O60896	RAMP3_HUMAN	receptor (G protein-coupled) activity modifying protein 3	126					calcium ion transport (GO:0006816)|cellular response to estradiol stimulus (GO:0071392)|G-protein coupled receptor signaling pathway involved in heart process (GO:0086103)|intracellular protein transport (GO:0006886)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of receptor recycling (GO:0001921)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11					Pramlintide(DB01278)	TCGTTATACCCGTCGTTCTGA	0.617																																						ENST00000242249.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11						c.(376-378)ccC>ccT		receptor (G protein-coupled) activity modifying protein 3	Pramlintide(DB01278)						131.0	124.0	126.0					7																	45222942		2203	4300	6503	SO:0001819	synonymous_variant	10268				intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity	g.chr7:45222942C>T	AJ001016	CCDS5503.1	7p13-p12	2006-11-21	2006-11-21		ENSG00000122679	ENSG00000122679		"""Receptor (G protein-coupled) activity modifying proteins"""	9845	protein-coding gene	gene with protein product		605155	"""receptor activity modifying protein 3"", ""receptor (calcitonin) activity modifying protein 3"""				Standard	NM_005856		Approved		uc003tnb.3	O60896	OTTHUMG00000023729	ENST00000242249.4:c.378C>T	7.37:g.45222942C>T						RAMP3_ENST00000496212.1_Silent_p.P126P|RAMP3_ENST00000481345.1_Silent_p.P126P	p.P126P	NM_005856.2	NP_005847.1	O60896	RAMP3_HUMAN			3	416	+			126					Q7Z2Y1	Silent	SNP	ENST00000242249.4	37	c.378C>T	CCDS5503.1																																																																																				0.617	RAMP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251343.1	NM_005856		69	298	0	0	0	1	0	69	298				
APRT	353	broad.mit.edu	37	16	88873818	88873818	+	IGR	SNP	C	C	T	rs141750196		TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr16:88873818C>T	ENST00000378364.3	-	0	947				CDT1_ENST00000301019.4_Missense_Mutation_p.R469C	NM_000485.2	NP_000476.1	P07741	APT_HUMAN	adenine phosphoribosyltransferase						adenine salvage (GO:0006168)|AMP salvage (GO:0044209)|cellular response to insulin stimulus (GO:0032869)|grooming behavior (GO:0007625)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	adenine binding (GO:0002055)|adenine phosphoribosyltransferase activity (GO:0003999)|AMP binding (GO:0016208)			cervix(1)|endometrium(1)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(80;0.0477)	Adenine(DB00173)|Adenosine monophosphate(DB00131)	TGTGTCCGAACGCAAGCCTGC	0.662																																						ENST00000301019.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7						c.(1405-1407)Cgc>Tgc		chromatin licensing and DNA replication factor 1		C	CYS/ARG	1,4393	2.1+/-5.4	0,1,2196	56.0	47.0	50.0		1405	3.5	0.9	16	dbSNP_134	50	0,8600		0,0,4300	no	missense	CDT1	NM_030928.3	180	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	probably-damaging	469/547	88873818	1,12993	2197	4300	6497	SO:0001628	intergenic_variant	81620				DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding	g.chr16:88873818C>T		CCDS32511.1, CCDS45546.1	16q24	2012-10-02				ENSG00000198931	2.4.2.7		626	protein-coding gene	gene with protein product		102600					Standard	NM_000485		Approved		uc002flv.3	P07741			16.37:g.88873818C>T							p.R469C	NM_030928.3	NP_112190.2	Q9H211	CDT1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0476)	9	2024	+			469					G5E9J2|Q3KP55|Q68DF9	Missense_Mutation	SNP	ENST00000378364.3	37	c.1405C>T	CCDS32511.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.242485	0.58995	2.28E-4	0.0	ENSG00000167513	ENST00000301019	T	0.78816	-1.21	5.58	3.51	0.40186	.	0.056888	0.64402	D	0.000004	D	0.84884	0.5571	M	0.80183	2.485	0.58432	D	0.999999	D	0.89917	1.0	D	0.68039	0.955	D	0.84722	0.0740	10	0.66056	D	0.02	-25.7888	6.5325	0.22334	0.3708:0.5353:0.0:0.0939	.	469	Q9H211	CDT1_HUMAN	C	469	ENSP00000301019:R469C	ENSP00000301019:R469C	R	+	1	0	CDT1	87401319	1.000000	0.71417	0.911000	0.35937	0.001000	0.01503	5.060000	0.64312	1.360000	0.45960	-0.251000	0.11542	CGC		0.662	APRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430000.2	NM_000485		3	92	0	0	0	1	0	3	92				
SP3	6670	broad.mit.edu	37	2	174777809	174777809	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr2:174777809C>G	ENST00000310015.6	-	6	2548	c.2018G>C	c.(2017-2019)aGa>aCa	p.R673T	SP3_ENST00000455789.2_Missense_Mutation_p.R620T|SP3_ENST00000418194.2_Missense_Mutation_p.R605T	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	673					B cell differentiation (GO:0030183)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|granulocyte differentiation (GO:0030851)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|monocyte differentiation (GO:0030224)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|T cell differentiation (GO:0030217)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			TGTATGTGTTCTTCTGTGCCT	0.368																																						ENST00000310015.6																		EWSR1/SP3(3)	0				NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9						c.(2017-2019)aGa>aCa		Sp3 transcription factor							93.0	87.0	89.0					2																	174777809		2203	4300	6503	SO:0001583	missense	6670				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding	g.chr2:174777809C>G	M97191	CCDS2254.1, CCDS46452.1	2q31	2013-01-08			ENSG00000172845	ENSG00000172845		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11208	protein-coding gene	gene with protein product		601804				1341900, 1454515	Standard	NM_003111		Approved	SPR-2	uc002uig.3	Q02447	OTTHUMG00000132333	ENST00000310015.6:c.2018G>C	2.37:g.174777809C>G	ENSP00000310301:p.Arg673Thr					SP3_ENST00000418194.2_Missense_Mutation_p.R605T|SP3_ENST00000455789.2_Missense_Mutation_p.R620T	p.R673T	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.185)		6	2548	-			673					A0AVL9|B4E2B7|Q69B26|Q69B27|Q8TD56|Q8WWU4|Q9BQR1	Missense_Mutation	SNP	ENST00000310015.6	37	c.2018G>C	CCDS2254.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.968560|3.968560	0.74131|0.74131	.|.	.|.	ENSG00000172845|ENSG00000172845	ENST00000416195|ENST00000310015;ENST00000455789;ENST00000418194	.|T;T;T	.|0.25414	.|1.8;1.8;1.8	5.71|5.71	5.71|5.71	0.89125|0.89125	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|0.041854	.|0.85682	.|D	.|0.000000	T|T	0.48642|0.48642	0.1511|0.1511	M|M	0.66378|0.66378	2.025|2.025	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.65815	.|0.992;0.995;0.983	.|D;P;D	.|0.67548	.|0.952;0.892;0.92	T|T	0.45745|0.45745	-0.9240|-0.9240	5|10	.|0.87932	.|D	.|0	.|.	15.0405|15.0405	0.71788|0.71788	0.0:0.9302:0.0:0.0698|0.0:0.9302:0.0:0.0698	.|.	.|670;673;620	.|B7ZLN9;Q02447;Q02447-6	.|.;SP3_HUMAN;.	Q|T	630|673;620;605	.|ENSP00000310301:R673T;ENSP00000388903:R620T;ENSP00000406140:R605T	.|ENSP00000310301:R673T	E|R	-|-	1|2	0|0	SP3|SP3	174486055|174486055	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.818000|7.818000	0.86416|0.86416	2.701000|2.701000	0.92244|0.92244	0.563000|0.563000	0.77884|0.77884	GAA|AGA		0.368	SP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255452.1	NM_003111		4	74	0	0	0	1	0	4	74				
CNTROB	116840	broad.mit.edu	37	17	7838456	7838456	+	Missense_Mutation	SNP	G	G	A	rs372711381		TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr17:7838456G>A	ENST00000563694.1	+	4	1512	c.587G>A	c.(586-588)cGc>cAc	p.R196H	CNTROB_ENST00000380262.3_Missense_Mutation_p.R196H|CNTROB_ENST00000565740.1_Missense_Mutation_p.R196H|CNTROB_ENST00000380255.3_Missense_Mutation_p.R196H	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	196					centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				GAGCATACCCGCCGCAAGGTA	0.562																																						ENST00000380262.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25						c.(586-588)cGc>cAc		centrobin, centrosomal BRCA2 interacting protein		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	57.0	60.0	59.0		587,587	5.3	1.0	17		59	1,8597		0,1,4298	no	missense,missense	CNTROB	NM_001037144.5,NM_053051.3	29,29	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	196/926,196/904	7838456	1,13003	2203	4299	6502	SO:0001583	missense	116840				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding	g.chr17:7838456G>A	AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"""centrobin"""	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.587G>A	17.37:g.7838456G>A	ENSP00000456335:p.Arg196His					CNTROB_ENST00000380255.3_Missense_Mutation_p.R196H|CNTROB_ENST00000563694.1_Missense_Mutation_p.R196H|CNTROB_ENST00000565740.1_Missense_Mutation_p.R196H	p.R196H	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN			4	1512	+		Prostate(122;0.173)	196					A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Missense_Mutation	SNP	ENST00000563694.1	37	c.587G>A	CCDS11126.1	.	.	.	.	.	.	.	.	.	.	G	30	5.053845	0.93793	0.0	1.16E-4	ENSG00000170037	ENST00000380262;ENST00000380255	T;T	0.59772	1.1;0.24	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000006	T	0.67411	0.2890	L	0.29908	0.895	0.50313	D	0.999861	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.997;0.997;0.994	T	0.70461	-0.4865	10	0.66056	D	0.02	-11.2137	17.8229	0.88655	0.0:0.0:1.0:0.0	.	196;196;196	Q8N137-3;Q8N137;Q8N137-2	.;CNTRB_HUMAN;.	H	196	ENSP00000369614:R196H;ENSP00000369605:R196H	ENSP00000369605:R196H	R	+	2	0	CNTROB	7779181	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.655000	0.67981	2.508000	0.84585	0.563000	0.77884	CGC		0.562	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1	NM_053051		3	58	0	0	0	1	0	3	58				
COPS6	10980	broad.mit.edu	37	7	99686916	99686916	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr7:99686916T>G	ENST00000303904.3	+	2	117	c.80T>G	c.(79-81)gTc>gGc	p.V27G	COPS6_ENST00000418625.1_Splice_Site_p.V26G	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	COP9 signalosome subunit 6	27					cullin deneddylation (GO:0010388)|viral process (GO:0016032)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			CCCTTAGTAGTCCCCAGCGTG	0.622																																						ENST00000303904.3																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12						c.(79-81)gTc>gGc		COP9 signalosome subunit 6							116.0	110.0	112.0					7																	99686916		2203	4300	6503	SO:0001583	missense	10980				cullin deneddylation|interspecies interaction between organisms	cytoplasm|signalosome	protein binding	g.chr7:99686916T>G	BC002520	CCDS5682.1	7q22.1	2013-03-14	2013-03-14		ENSG00000168090	ENSG00000168090			21749	protein-coding gene	gene with protein product	"""COP9 subunit 6 (MOV34 homolog, 34 kD)"""	614729	"""COP9 constitutive photomorphogenic homolog subunit 6 (Arabidopsis)"""			12477932	Standard	NM_006833		Approved	MOV34-34KD, CSN6	uc003usu.3	Q7L5N1	OTTHUMG00000154632	ENST00000303904.3:c.80T>G	7.37:g.99686916T>G	ENSP00000304102:p.Val27Gly					COPS6_ENST00000418625.1_Splice_Site_p.V26_splice	p.V27G	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		2	117	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		27					A4D2A3|O15387	Missense_Mutation	SNP	ENST00000303904.3	37	c.80T>G	CCDS5682.1	.	.	.	.	.	.	.	.	.	.	T	8.856	0.945855	0.18356	.	.	ENSG00000168090	ENST00000303904;ENST00000418625	T;T	0.43688	0.96;0.94	5.31	5.31	0.75309	.	0.472322	0.22275	N	0.062218	T	0.23727	0.0574	N	0.08118	0	0.34578	D	0.714157	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.0	T	0.26121	-1.0112	10	0.22109	T	0.4	-4.2775	13.2674	0.60141	0.0:0.0:0.0:1.0	.	27;27	B4DHR8;Q7L5N1	.;CSN6_HUMAN	G	27;26	ENSP00000304102:V27G;ENSP00000400617:V26G	ENSP00000304102:V27G	V	+	2	0	COPS6	99524852	0.139000	0.22563	0.924000	0.36721	0.391000	0.30476	1.477000	0.35431	2.243000	0.73865	0.533000	0.62120	GTC		0.622	COPS6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336412.3	NM_006833		5	236	0	0	0	1	0	5	236				
FREM2	341640	broad.mit.edu	37	13	39263499	39263499	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr13:39263499G>C	ENST00000280481.7	+	1	2234	c.2018G>C	c.(2017-2019)aGa>aCa	p.R673T		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	673					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TTCACATTTAGAGTCCAGGAT	0.562																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(2017-2019)aGa>aCa		FRAS1 related extracellular matrix protein 2							82.0	81.0	82.0					13																	39263499		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39263499G>C	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.2018G>C	13.37:g.39263499G>C	ENSP00000280481:p.Arg673Thr						p.R673T	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	2234	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	673					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.2018G>C	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	8.537	0.872431	0.17322	.	.	ENSG00000150893	ENST00000280481	T	0.39056	1.1	5.97	5.08	0.68730	.	0.256786	0.43919	D	0.000509	T	0.36635	0.0974	L	0.56769	1.78	0.20821	N	0.999848	B	0.16396	0.017	B	0.13407	0.009	T	0.12682	-1.0538	10	0.19147	T	0.46	.	10.9667	0.47416	0.0695:0.1313:0.7991:0.0	.	673	Q5SZK8	FREM2_HUMAN	T	673	ENSP00000280481:R673T	ENSP00000280481:R673T	R	+	2	0	FREM2	38161499	0.241000	0.23857	0.959000	0.39883	0.994000	0.84299	2.892000	0.48625	2.837000	0.97791	0.655000	0.94253	AGA		0.562	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		5	143	0	0	0	1	0	5	143				
ANKRD33	341405	broad.mit.edu	37	12	52284995	52284995	+	Silent	SNP	G	G	A	rs199612364		TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr12:52284995G>A	ENST00000340970.4	+	6	1061	c.690G>A	c.(688-690)agG>agA	p.R230R	ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000301190.6_Missense_Mutation_p.G422E|ANKRD33_ENST00000538991.1_Silent_p.R161R			Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	230					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|skeletal muscle cell differentiation (GO:0035914)	cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		AGTCCTTCAGGACACCAAAGT	0.597																																						ENST00000301190.6																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22						c.(1264-1266)gGa>gAa		ankyrin repeat domain 33							60.0	53.0	56.0					12																	52284995		2203	4300	6503	SO:0001819	synonymous_variant	341405							g.chr12:52284995G>A		CCDS8815.1, CCDS44892.1	12q13.13	2013-01-10	2005-01-07	2005-01-07		ENSG00000167612		"""Ankyrin repeat domain containing"""	13788	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 7"""	C12orf7		20026326	Standard	NM_182608		Approved	DKFZp686O1689, PANKY	uc001rzd.3	Q7Z3H0	OTTHUMG00000169506	ENST00000340970.4:c.690G>A	12.37:g.52284995G>A						ANKRD33_ENST00000538991.1_Silent_p.R161R|ANKRD33_ENST00000340970.4_Silent_p.R230R|ANKRD33_ENST00000547119.1_3'UTR	p.G422E	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0969)	5	1492	+			0					Q0VAA7|Q5K619|Q5K621|Q5K622|Q5K623|Q5K624|Q6ZUN0	Missense_Mutation	SNP	ENST00000340970.4	37	c.1265G>A	CCDS44892.1	.	.	.	.	.	.	.	.	.	.	G	5.726	0.318451	0.10845	.	.	ENSG00000167612	ENST00000301190	T	0.22743	1.94	4.58	3.65	0.41850	.	0.237014	0.21943	N	0.066853	T	0.11024	0.0269	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.14578	0.011	T	0.31280	-0.9949	9	0.14656	T	0.56	-0.9645	7.9973	0.30275	0.1184:0.0:0.8816:0.0	.	422	Q7Z3H0-2	.	E	422	ENSP00000301190:G422E	ENSP00000301190:G422E	G	+	2	0	ANKRD33	50571262	0.261000	0.24063	0.005000	0.12908	0.013000	0.08279	1.953000	0.40352	1.211000	0.43351	0.561000	0.74099	GGA		0.597	ANKRD33-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404515.1	NM_182608		3	64	0	0	0	1	0	3	64				
RGL1	23179	broad.mit.edu	37	1	183711406	183711406	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr1:183711406A>C	ENST00000304685.4	+	2	563	c.114A>C	c.(112-114)gaA>gaC	p.E38D	RGL1_ENST00000536277.1_Missense_Mutation_p.E38D	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	0					cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						GAATATGGGAAGTTTTAAAGA	0.428																																						ENST00000304685.3																			0				breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						c.(112-114)gaA>gaC		ral guanine nucleotide dissociation stimulator-like 1							109.0	107.0	107.0					1																	183711406		2203	4300	6503	SO:0001583	missense	23179				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity	g.chr1:183711406A>C	AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000304685.4:c.114A>C	1.37:g.183711406A>C	ENSP00000303192:p.Glu38Asp					RGL1_ENST00000536277.1_Missense_Mutation_p.E38D|RGL1_ENST00000367531.1_Missense_Mutation_p.E38D	p.E38D	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN			2	575	+			0					Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Missense_Mutation	SNP	ENST00000304685.4	37	c.114A>C	CCDS1359.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.57|10.57	1.387742|1.387742	0.25031|0.25031	.|.	.|.	ENSG00000143344|ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277|ENST00000543395	T;T;T|.	0.51071|.	0.89;0.89;0.72|.	5.09|5.09	-1.36|-1.36	0.09085|0.09085	.|.	1.427110|.	0.04397|.	N|.	0.363529|.	T|T	0.24586|0.24586	0.0596|0.0596	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B;B|B	0.02656|0.02656	0.0;0.0|0.0	B;B|B	0.04013|0.01281	0.001;0.001|0.0	T|T	0.10776|0.10776	-1.0615|-1.0615	10|8	0.11794|0.87932	T|D	0.64|0	.|.	1.238|1.238	0.01957|0.01957	0.3868:0.3024:0.0969:0.2139|0.3868:0.3024:0.0969:0.2139	.|.	38;38|3	B7Z2W5;Q5SXQ6|F5H3C3	.;.|.	D|R	38|3	ENSP00000303192:E38D;ENSP00000356501:E38D;ENSP00000438662:E38D|.	ENSP00000303192:E38D|ENSP00000439193:S3R	E|S	+|+	3|1	2|0	RGL1|RGL1	181978029|181978029	0.995000|0.995000	0.38212|0.38212	0.998000|0.998000	0.56505|0.56505	0.999000|0.999000	0.98932|0.98932	0.072000|0.072000	0.14617|0.14617	0.015000|0.015000	0.14971|0.14971	0.528000|0.528000	0.53228|0.53228	GAA|AGT		0.428	RGL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085481.3	NM_015149		4	159	0	0	0	1	0	4	159				
CCL4L2	388372	broad.mit.edu	37	17	34641448	34641448	+	Splice_Site	SNP	A	A	G	rs184899362		TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr17:34641448A>G	ENST00000394465.2	+	3	508		c.e3-1		CCL4L2_ENST00000482104.1_3'UTR|TBC1D3C_ENST00000308078.7_Intron|CCL4L2_ENST00000339270.6_Splice_Site|TBC1D3H_ENST00000400684.4_Intron|TBC1D3H_ENST00000535446.1_Intron|TBC1D3C_ENST00000451448.2_Intron			Q8NHW4	CC4L_HUMAN	chemokine (C-C motif) ligand 4-like 2						cell chemotaxis (GO:0060326)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular space (GO:0005615)		p.?(1)		endometrium(1)	1		Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTTGTTCTACAGATTCCAAAC	0.522																																						ENST00000394465.2																			1	Unknown(1)	p.?(1)	endometrium(1)	endometrium(1)	1						c.e3-1		chemokine (C-C motif) ligand 4-like 2							219.0	152.0	175.0					17																	34641448		2159	4154	6313	SO:0001630	splice_region_variant	388372				chemotaxis|immune response|inflammatory response	extracellular space	chemokine activity	g.chr17:34641448A>G			17q12	2005-08-09			ENSG00000197262			"""Chemokine ligands"""	24066	protein-coding gene	gene with protein product		603782				15028295	Standard	NM_001291468		Approved		uc010cuj.3	Q8NHW4	OTTHUMG00000133066	ENST00000394465.2:c.192-1A>G	17.37:g.34641448A>G						TBC1D3C_ENST00000308078.7_Intron|TBC1D3H_ENST00000535446.1_Intron|TBC1D3C_ENST00000451448.2_Intron|CCL4L2_ENST00000482104.1_3'UTR|CCL4L2_ENST00000339270.6_Splice_Site|TBC1D3H_ENST00000400684.4_Intron				Q8NHW4	CC4L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	3	508	+		Breast(25;0.102)|Ovarian(249;0.17)						B2RUZ3|B7ZMA8|Q50EM1|Q50EM2|Q50EM3|Q50EM4|Q50EM5|Q50EM6|Q50EM7|Q50EM8|Q569J2|Q6NSB0	Splice_Site	SNP	ENST00000394465.2	37		CCDS11311.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	N	11.83	1.756201	0.31137	.	.	ENSG00000197262	ENST00000394465;ENST00000339270	.	.	.	3.1	3.1	0.35709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.8193	0.29278	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCL4L2	31665561	1.000000	0.71417	0.994000	0.49952	0.682000	0.39822	4.719000	0.61937	1.074000	0.40909	0.344000	0.21773	.		0.522	CCL4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256699.1	NM_207007	Intron	3	137	0	0	0	1	0	3	137				
CPQ	10404	broad.mit.edu	37	8	97847312	97847312	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr8:97847312G>A	ENST00000220763.5	+	3	755	c.545G>A	c.(544-546)aGg>aAg	p.R182K		NM_016134.2	NP_057218.1	Q9Y646	CBPQ_HUMAN	carboxypeptidase Q	182					peptide catabolic process (GO:0043171)|proteolysis (GO:0006508)|thyroid hormone generation (GO:0006590)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)	carboxypeptidase activity (GO:0004180)|metal ion binding (GO:0046872)|metallodipeptidase activity (GO:0070573)|protein homodimerization activity (GO:0042803)										AACTACTCAAGGACGGTGCAA	0.517																																						ENST00000220763.5																			0											c.(544-546)aGg>aAg		carboxypeptidase Q							117.0	110.0	112.0					8																	97847312		2203	4300	6503	SO:0001583	missense	10404				peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity	g.chr8:97847312G>A	AF107834	CCDS6273.1	8q22.2	2012-02-17			ENSG00000104324	ENSG00000104324			16910	protein-coding gene	gene with protein product	"""lysosomal dipeptidase"", ""Ser-Met dipeptidase"", ""plasma glutamate carboxypeptidase"""					10206990	Standard	NM_016134		Approved	LDP, PGCP	uc003yhw.3	Q9Y646	OTTHUMG00000164690	ENST00000220763.5:c.545G>A	8.37:g.97847312G>A	ENSP00000220763:p.Arg182Lys						p.R182K	NM_016134.2	NP_057218.1	Q9Y646	PGCP_HUMAN			3	755	+			182					B2RD88|Q8NBZ1|Q9UNM8|Q9Y5X6	Missense_Mutation	SNP	ENST00000220763.5	37	c.545G>A	CCDS6273.1	.	.	.	.	.	.	.	.	.	.	G	0.076	-1.192479	0.01607	.	.	ENSG00000104324	ENST00000220763;ENST00000517742	T;T	0.41400	1.0;1.05	5.63	-11.3	0.00108	.	1.689210	0.02949	N	0.141466	T	0.12178	0.0296	N	0.02379	-0.575	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.06180	-1.0841	10	0.05721	T	0.95	-5.6579	6.1151	0.20122	0.5338:0.3021:0.0728:0.0913	.	182;182	B5MDX4;Q9Y646	.;PGCP_HUMAN	K	182	ENSP00000220763:R182K;ENSP00000429146:R182K	ENSP00000220763:R182K	R	+	2	0	AC010859.1	97916488	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.012000	0.12699	-3.884000	0.00095	-1.114000	0.02060	AGG		0.517	CPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379757.2	NM_016134		3	98	0	0	0	1	0	3	98				
DPY19L3	147991	broad.mit.edu	37	19	32954298	32954298	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr19:32954298G>A	ENST00000342179.5	+	13	1564	c.1349G>A	c.(1348-1350)gGt>gAt	p.G450D	DPY19L3_ENST00000590651.1_3'UTR|DPY19L3_ENST00000586987.1_Missense_Mutation_p.G450D|DPY19L3_ENST00000392250.2_Missense_Mutation_p.G450D	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	450						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					CAATCCGTGGGTAAAATGGAA	0.338																																						ENST00000342179.5																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32						c.(1348-1350)gGt>gAt		dpy-19-like 3 (C. elegans)							141.0	122.0	128.0					19																	32954298		2203	4300	6503	SO:0001583	missense	147991					integral to membrane		g.chr19:32954298G>A		CCDS12422.1	19q13.11	2008-02-05				ENSG00000178904			27120	protein-coding gene	gene with protein product		613894					Standard	NM_207325		Approved		uc002ntg.3	Q6ZPD9		ENST00000342179.5:c.1349G>A	19.37:g.32954298G>A	ENSP00000344937:p.Gly450Asp					DPY19L3_ENST00000392250.2_Missense_Mutation_p.G450D|DPY19L3_ENST00000590651.1_3'UTR|DPY19L3_ENST00000586987.1_Missense_Mutation_p.G450D	p.G450D	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN			13	1564	+	Esophageal squamous(110;0.162)		450					Q68DC7|Q6ZTB7|Q6ZTS2	Missense_Mutation	SNP	ENST00000342179.5	37	c.1349G>A	CCDS12422.1	.	.	.	.	.	.	.	.	.	.	G	0.139	-1.104361	0.01828	.	.	ENSG00000178904	ENST00000392250;ENST00000319326;ENST00000342179	T;T	0.53206	0.63;0.63	5.04	-4.26	0.03755	.	0.972531	0.08542	N	0.930392	T	0.25568	0.0622	N	0.12471	0.22	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.33904	-0.9850	10	0.11794	T	0.64	3.9387	13.3145	0.60399	0.8334:0.0:0.1666:0.0	.	450	Q6ZPD9	D19L3_HUMAN	D	450	ENSP00000376081:G450D;ENSP00000344937:G450D	ENSP00000315672:G450D	G	+	2	0	DPY19L3	37646138	0.001000	0.12720	0.000000	0.03702	0.068000	0.16541	0.592000	0.23984	-0.499000	0.06623	-0.806000	0.03193	GGT		0.338	DPY19L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450311.1	NM_207325		3	110	0	0	0	1	0	3	110				
TPTE2	93492	broad.mit.edu	37	13	20048175	20048175	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr13:20048175G>C	ENST00000400230.2	-	6	315	c.271C>G	c.(271-273)Ctc>Gtc	p.L91V	TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000382977.4_Missense_Mutation_p.L91V|TPTE2_ENST00000390680.2_Missense_Mutation_p.L54V|TPTE2_ENST00000382978.1_Missense_Mutation_p.L91V|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000382975.4_Missense_Mutation_p.L91V|TPTE2_ENST00000255310.6_Missense_Mutation_p.L54V			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	91					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TCGGCAAGGAGGAGAGTGACA	0.294																																						ENST00000400230.2																			0				NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(271-273)Ctc>Gtc		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2							65.0	73.0	70.0					13																	20048175		2203	4300	6503	SO:0001583	missense	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20048175G>C	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.271C>G	13.37:g.20048175G>C	ENSP00000383089:p.Leu91Val					TPTE2_ENST00000382978.1_Missense_Mutation_p.L91V|TPTE2_ENST00000382975.4_Missense_Mutation_p.L91V|TPTE2_ENST00000255310.6_Missense_Mutation_p.L54V|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000390680.2_Missense_Mutation_p.L54V|TPTE2_ENST00000382977.4_Missense_Mutation_p.L91V	p.L91V			Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	6	315	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	91					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	c.271C>G	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	g	0	-2.671852	0.00104	.	.	ENSG00000132958	ENST00000382978;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000343548	D;D;D;D;D;D	0.97553	-4.43;-4.43;-4.43;-4.43;-4.43;-4.43	2.33	-2.98	0.05513	.	0.341290	0.24920	N	0.034543	D	0.87853	0.6282	N	0.11064	0.09	0.09310	N	1	B;B	0.12013	0.005;0.002	B;B	0.06405	0.002;0.002	T	0.79778	-0.1660	9	.	.	.	-2.0597	4.2976	0.10910	0.0:0.4631:0.2199:0.317	.	54;91	Q6XPS3-3;Q6XPS3	.;TPTE2_HUMAN	V	91;91;54;54;91;91;91	ENSP00000372438:L91V;ENSP00000383089:L91V;ENSP00000255310:L54V;ENSP00000375098:L54V;ENSP00000372437:L91V;ENSP00000372435:L91V	.	L	-	1	0	TPTE2	18946175	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.850000	0.04317	-0.793000	0.04475	-0.718000	0.03613	CTC		0.294	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		3	110	0	0	0	1	0	3	110				
MED24	9862	broad.mit.edu	37	17	38179499	38179499	+	Missense_Mutation	SNP	G	G	A	rs145215690		TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr17:38179499G>A	ENST00000394128.2	-	20	2216	c.2135C>T	c.(2134-2136)aCg>aTg	p.T712M	MED24_ENST00000501516.3_Missense_Mutation_p.T731M|MED24_ENST00000394126.1_Missense_Mutation_p.T737M|MED24_ENST00000394127.2_Missense_Mutation_p.T699M|MED24_ENST00000356271.3_Missense_Mutation_p.T699M	NM_014815.3	NP_055630.2	O75448	MED24_HUMAN	mediator complex subunit 24	712					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.T712M(1)		autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					AAAAATGTCCGTCAGCACCTC	0.602																																						ENST00000394126.1																			1	Substitution - Missense(1)	p.T712M(1)	large_intestine(1)	autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(2209-2211)aCg>aTg		mediator complex subunit 24		G	MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	65.0	60.0	62.0		2096,2135	2.5	0.9	17	dbSNP_134	62	0,8600		0,0,4300	no	missense,missense	MED24	NM_001079518.1,NM_014815.3	81,81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	699/977,712/990	38179499	1,13005	2203	4300	6503	SO:0001583	missense	9862				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:38179499G>A	AF055995	CCDS11359.1, CCDS42315.1	17q21.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000008838	ENSG00000008838			22963	protein-coding gene	gene with protein product		607000	"""thyroid hormone receptor associated protein 4"", ""cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa"""	THRAP4, CRSP4			Standard	NM_001079518		Approved	TRAP100, KIAA0130, DRIP100, CRSP100	uc002htt.3	O75448	OTTHUMG00000133329	ENST00000394128.2:c.2135C>T	17.37:g.38179499G>A	ENSP00000377686:p.Thr712Met					MED24_ENST00000501516.3_Missense_Mutation_p.T731M|MED24_ENST00000394128.2_Missense_Mutation_p.T712M|MED24_ENST00000394127.2_Missense_Mutation_p.T699M|MED24_ENST00000356271.3_Missense_Mutation_p.T699M	p.T737M			O75448	MED24_HUMAN			19	2628	-	Colorectal(19;0.000442)		712					A8K4S5|B3KMR9|Q14143|Q9NNY5	Missense_Mutation	SNP	ENST00000394128.2	37	c.2210C>T	CCDS11359.1	.	.	.	.	.	.	.	.	.	.	G	10.08	1.252321	0.22880	2.27E-4	0.0	ENSG00000008838	ENST00000394126;ENST00000356271;ENST00000394128;ENST00000535071;ENST00000394127;ENST00000536318;ENST00000535508;ENST00000501516;ENST00000431269	T;T;T	0.44881	0.91;0.91;0.91	4.43	2.45	0.29901	Mediator complex, subunit Med24, N-terminal (1);	0.173450	0.49916	D	0.000123	T	0.24198	0.0586	L	0.40543	1.245	0.30146	N	0.803478	P;B;P;B;B;B	0.41624	0.757;0.109;0.676;0.132;0.16;0.221	B;B;B;B;B;B	0.30029	0.11;0.006;0.063;0.011;0.018;0.016	T	0.23013	-1.0200	10	0.51188	T	0.08	-8.8074	5.0149	0.14331	0.2512:0.1532:0.5956:0.0	.	662;622;622;699;712;654	F5H5K2;F8W9R9;B4E1A5;O75448-2;O75448;F5H0K1	.;.;.;.;MED24_HUMAN;.	M	712;712;712;662;699;654;273;183;622	ENSP00000377686:T712M;ENSP00000443344:T662M;ENSP00000377685:T699M	ENSP00000348610:T712M	T	-	2	0	MED24	35433025	0.971000	0.33674	0.904000	0.35570	0.997000	0.91878	1.967000	0.40491	0.500000	0.27991	0.561000	0.74099	ACG		0.602	MED24-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257147.2	NM_014815		25	75	0	0	0	1	0	25	75				
IBTK	25998	broad.mit.edu	37	6	82924057	82924057	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr6:82924057C>A	ENST00000306270.7	-	12	2640	c.2091G>T	c.(2089-2091)agG>agT	p.R697S	IBTK_ENST00000510291.1_Missense_Mutation_p.R697S|IBTK_ENST00000503631.1_Intron	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	697					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		TGCTCTTCTGCCTCTCACTAA	0.328																																						ENST00000306270.7																			0				central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						c.(2089-2091)agG>agT		inhibitor of Bruton agammaglobulinemia tyrosine kinase							119.0	126.0	123.0					6																	82924057		2203	4300	6503	SO:0001583	missense	25998				negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity	g.chr6:82924057C>A	AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	17853	protein-coding gene	gene with protein product		606457	"""Bruton agammaglobulinemia tyrosine kinase inhibitor"""	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.2091G>T	6.37:g.82924057C>A	ENSP00000305721:p.Arg697Ser					IBTK_ENST00000510291.1_Missense_Mutation_p.R697S|IBTK_ENST00000503631.1_Intron	p.R697S	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0901)	12	2640	-		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)	697					Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Missense_Mutation	SNP	ENST00000306270.7	37	c.2091G>T	CCDS34490.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.804269	0.31869	.	.	ENSG00000005700	ENST00000306270;ENST00000510291	T;T	0.21734	1.99;1.99	5.47	-0.248	0.13015	BTB/POZ-like (1);	0.327050	0.36972	N	0.002301	T	0.06234	0.0161	L	0.56769	1.78	0.39317	D	0.96518	B;B;B	0.25351	0.124;0.009;0.005	B;B;B	0.24006	0.05;0.005;0.002	T	0.17623	-1.0363	10	0.21540	T	0.41	-0.5026	4.5277	0.11990	0.1504:0.3909:0.0:0.4587	.	697;697;697	E7EPI0;Q9P2D0-2;Q9P2D0	.;.;IBTK_HUMAN	S	697	ENSP00000305721:R697S;ENSP00000426405:R697S	ENSP00000305721:R697S	R	-	3	2	IBTK	82980776	0.585000	0.26774	0.993000	0.49108	0.599000	0.36880	0.529000	0.23019	0.023000	0.15187	0.655000	0.94253	AGG		0.328	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041337.2	NM_015525		12	73	1	0	0.000151284	1	0.000159689	12	73				
RAB35	11021	broad.mit.edu	37	12	120536625	120536625	+	Missense_Mutation	SNP	T	T	C	rs202018032	byFrequency	TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr12:120536625T>C	ENST00000229340.5	-	5	655	c.467A>G	c.(466-468)aAc>aGc	p.N156S	RAB35_ENST00000432953.2_Intron|RAB35_ENST00000543364.1_5'UTR|RAB35_ENST00000534951.1_Intron	NM_001167606.1|NM_006861.6	NP_001161078.1|NP_006852.1	Q15286	RAB35_HUMAN	RAB35, member RAS oncogene family	156					antigen processing and presentation (GO:0019882)|cellular response to nerve growth factor stimulus (GO:1990090)|cytokinesis (GO:0000910)|endosomal transport (GO:0016197)|GTP catabolic process (GO:0006184)|neuron projection development (GO:0031175)|plasma membrane to endosome transport (GO:0048227)|protein localization (GO:0008104)|protein localization to endosome (GO:0036010)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cell projection membrane (GO:0031253)|clathrin-coated endocytic vesicle (GO:0045334)|coated pit (GO:0005905)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|intercellular bridge (GO:0045171)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(1)|ovary(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.248)		CTCTTCCACGTTGACATTCTC	0.597													T|||	2	0.000399361	0.0	0.0	5008	,	,		18688	0.001		0.001	False		,,,				2504	0.0					ENST00000229340.5																			0				endometrium(1)|ovary(1)	2						c.(466-468)aAc>aGc		RAB35, member RAS oncogene family		T	,SER/ASN	0,4168		0,0,2084	95.0	97.0	96.0		,467	4.0	1.0	12		96	1,8429		0,1,4214	no	intron,missense	RAB35	NM_001167606.1,NM_006861.6	,46	0,1,6298	CC,CT,TT		0.0119,0.0,0.0079	,benign	,156/202	120536625	1,12597	2084	4215	6299	SO:0001583	missense	11021				cytokinesis|endosome transport|protein transport|small GTPase mediated signal transduction	cell projection membrane|clathrin-coated endocytic vesicle|coated pit|endosome|intercellular bridge|melanosome	GTP binding|GTPase activity|phosphatidylinositol-4,5-bisphosphate binding	g.chr12:120536625T>C	X79781	CCDS41846.1, CCDS53836.1	12q24	2008-07-28			ENSG00000111737	ENSG00000111737		"""RAB, member RAS oncogene"""	9774	protein-coding gene	gene with protein product		604199					Standard	NM_001167606		Approved	H-ray	uc009zww.2	Q15286	OTTHUMG00000169159	ENST00000229340.5:c.467A>G	12.37:g.120536625T>C	ENSP00000229340:p.Asn156Ser					RAB35_ENST00000534951.1_Intron|RAB35_ENST00000543364.1_5'UTR|RAB35_ENST00000432953.2_Intron	p.N156S	NM_001167606.1|NM_006861.6	NP_001161078.1|NP_006852.1	Q15286	RAB35_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.248)	5	655	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		156					B2R6E0|B4E390	Missense_Mutation	SNP	ENST00000229340.5	37	c.467A>G	CCDS41846.1	.	.	.	.	.	.	.	.	.	.	T	16.61	3.170496	0.57584	0.0	1.19E-4	ENSG00000111737	ENST00000229340;ENST00000538903	D;D	0.82255	-1.59;-1.59	5.16	4.02	0.46733	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.83083	0.5177	M	0.84683	2.71	0.80722	D	1	B	0.31274	0.317	B	0.30646	0.118	D	0.84778	0.0771	10	0.87932	D	0	.	10.2959	0.43625	0.0:0.0777:0.0:0.9223	.	156	Q15286	RAB35_HUMAN	S	156;140	ENSP00000229340:N156S;ENSP00000443994:N140S	ENSP00000229340:N156S	N	-	2	0	RAB35	119021008	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	6.021000	0.70832	1.925000	0.55765	0.459000	0.35465	AAC		0.597	RAB35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402599.2			3	59	0	0	0	1	0	3	59				
FURIN	5045	broad.mit.edu	37	15	91422745	91422745	+	Silent	SNP	C	C	T	rs201433527		TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr15:91422745C>T	ENST00000268171.3	+	10	1404	c.1125C>T	c.(1123-1125)gcC>gcT	p.A375A		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	375	Peptidase S8.				cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of low-density lipoprotein particle receptor catabolic process (GO:0032804)|negative regulation of transforming growth factor beta1 production (GO:0032911)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-translational protein modification (GO:0043687)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)|regulation of protein catabolic process (GO:0042176)|secretion by cell (GO:0032940)|signal peptide processing (GO:0006465)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|nerve growth factor binding (GO:0048406)|peptidase activity (GO:0008233)|peptide binding (GO:0042277)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CCTTAGCAGCCGGCATCATTG	0.617																																						ENST00000268171.3																			0				breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36						c.(1123-1125)gcC>gcT		furin (paired basic amino acid cleaving enzyme)							52.0	52.0	52.0					15																	91422745		2198	4298	6496	SO:0001819	synonymous_variant	5045				cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity	g.chr15:91422745C>T	X17094	CCDS10364.1	15q26.1	2007-01-24	2002-12-04	2002-12-06	ENSG00000140564	ENSG00000140564			8568	protein-coding gene	gene with protein product		136950	"""paired basic amino acid cleaving enzyme (furin, membrane associated receptor protein)"""	PCSK3, FUR, PACE		2251280, 1741956	Standard	NM_002569		Approved	SPC1	uc002bpu.1	P09958	OTTHUMG00000149831	ENST00000268171.3:c.1125C>T	15.37:g.91422745C>T							p.A375A	NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	Lung(145;0.189)		10	1404	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		375					Q14336|Q6LBS3|Q9UCZ5	Silent	SNP	ENST00000268171.3	37	c.1125C>T	CCDS10364.1																																																																																				0.617	FURIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313492.1	NM_002569		17	120	0	0	0	1	0	17	120				
MCM4	4173	broad.mit.edu	37	8	48883929	48883929	+	Missense_Mutation	SNP	G	G	A	rs151044076	byFrequency	TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr8:48883929G>A	ENST00000262105.2	+	12	2038	c.1829G>A	c.(1828-1830)cGc>cAc	p.R610H	MCM4_ENST00000523944.1_Missense_Mutation_p.R610H	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	610	MCM.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				CTCAATGCGCGCACCTCTGTC	0.493													G|||	2	0.000399361	0.0	0.0	5008	,	,		18947	0.002		0.0	False		,,,				2504	0.0					ENST00000262105.2																			0				biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44						c.(1828-1830)cGc>cAc		minichromosome maintenance complex component 4		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	101.0	95.0	97.0		1829,1829	5.0	1.0	8	dbSNP_134	97	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	MCM4	NM_005914.3,NM_182746.2	29,29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	610/864,610/864	48883929	2,13004	2203	4300	6503	SO:0001583	missense	4173				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	g.chr8:48883929G>A		CCDS6143.1	8q12-q13	2008-02-05	2007-04-04		ENSG00000104738	ENSG00000104738			6947	protein-coding gene	gene with protein product		602638	"""MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)"""	CDC21		7601140	Standard	NM_005914		Approved	CDC54, hCdc21, P1-Cdc21, MGC33310	uc003xql.2	P33991	OTTHUMG00000164205	ENST00000262105.2:c.1829G>A	8.37:g.48883929G>A	ENSP00000262105:p.Arg610His					MCM4_ENST00000523944.1_Missense_Mutation_p.R610H	p.R610H	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN			12	2038	+		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)	610			MCM.		Q8NEH1|Q99658	Missense_Mutation	SNP	ENST00000262105.2	37	c.1829G>A	CCDS6143.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	29.4	4.999642	0.93227	0.0	2.33E-4	ENSG00000104738	ENST00000523944;ENST00000262105;ENST00000396826;ENST00000429229	T;T	0.12361	2.69;2.69	5.87	5.0	0.66597	ATPase, AAA+ type, core (1);	0.046568	0.85682	D	0.000000	T	0.53318	0.1789	H	0.97291	3.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	T	0.72534	-0.4264	10	0.87932	D	0	-20.9739	15.4071	0.74887	0.0666:0.0:0.9334:0.0	.	610;610	B3KMX0;P33991	.;MCM4_HUMAN	H	610;610;597;570	ENSP00000430194:R610H;ENSP00000262105:R610H	ENSP00000262105:R610H	R	+	2	0	MCM4	49046482	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	7.973000	0.88032	1.636000	0.50526	0.655000	0.94253	CGC		0.493	MCM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377791.1	NM_005914		3	104	0	0	0	1	0	3	104				
NAALADL2	254827	broad.mit.edu	37	3	175042115	175042115	+	Splice_Site	SNP	G	G	A			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr3:175042115G>A	ENST00000454872.1	+	5	1218		c.e5+1		NAALADL2_ENST00000473253.1_Splice_Site	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2							integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		CCAAGTGTCGGTAAGTTTGTT	0.383																																						ENST00000454872.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49						c.e5+1		N-acetylated alpha-linked acidic dipeptidase-like 2							115.0	114.0	114.0					3																	175042115		1876	4086	5962	SO:0001630	splice_region_variant	254827				proteolysis	integral to membrane	peptidase activity	g.chr3:175042115G>A		CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase II-type non-peptidase homologue"""	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.1090+1G>A	3.37:g.175042115G>A						NAALADL2_ENST00000473253.1_Splice_Site		NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)	5	1218	+	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)						Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Splice_Site	SNP	ENST00000454872.1	37		CCDS46960.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.275974	0.80580	.	.	ENSG00000177694	ENST00000454872	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2173	0.89890	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NAALADL2	176524809	1.000000	0.71417	0.999000	0.59377	0.925000	0.55904	7.053000	0.76641	2.735000	0.93741	0.563000	0.77884	.		0.383	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015	Intron	3	65	0	0	0	1	0	3	65				
VWA7	80737	broad.mit.edu	37	6	31743820	31743820	+	Missense_Mutation	SNP	C	C	T	rs370121129		TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr6:31743820C>T	ENST00000375688.4	-	3	634	c.434G>A	c.(433-435)cGg>cAg	p.R145Q	VWA7_ENST00000467576.1_Intron|VWA7_ENST00000447450.1_Missense_Mutation_p.R145Q|Y_RNA_ENST00000364685.1_RNA|VWA7_ENST00000375686.3_Missense_Mutation_p.R145Q			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	145						extracellular region (GO:0005576)											CACGGTCTCCCGCAGAGCCCC	0.662																																						ENST00000375686.3																			0											c.(433-435)cGg>cAg		von Willebrand factor A domain containing 7		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	60.0	66.0	64.0		434	2.7	0.9	6		64	0,8600		0,0,4300	no	missense	C6orf27	NM_025258.2	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	145/892	31743820	1,13005	2203	4300	6503	SO:0001583	missense	80737					extracellular region		g.chr6:31743820C>T		CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"""chromosome 6 open reading frame 27"""	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.434G>A	6.37:g.31743820C>T	ENSP00000364840:p.Arg145Gln					VWA7_ENST00000375688.4_Missense_Mutation_p.R145Q|VWA7_ENST00000447450.1_Missense_Mutation_p.R145Q|VWA7_ENST00000467576.1_Intron	p.R145Q	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN			3	671	-			145					A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Missense_Mutation	SNP	ENST00000375688.4	37	c.434G>A	CCDS4721.2	.	.	.	.	.	.	.	.	.	.	C	10.73	1.431752	0.25813	2.27E-4	0.0	ENSG00000204396	ENST00000375688;ENST00000375686;ENST00000447450	T;T;T	0.14516	2.5;2.5;2.5	5.47	2.74	0.32292	.	0.463335	0.20241	N	0.096289	T	0.04048	0.0113	L	0.50333	1.59	0.09310	N	1	B	0.21905	0.062	B	0.13407	0.009	T	0.35301	-0.9794	10	0.36615	T	0.2	-5.4858	6.6648	0.23035	0.0:0.6463:0.0:0.3537	.	145	Q9Y334	G7C_HUMAN	Q	145	ENSP00000364840:R145Q;ENSP00000364838:R145Q;ENSP00000390554:R145Q	ENSP00000364838:R145Q	R	-	2	0	C6orf27	31851799	0.000000	0.05858	0.852000	0.33557	0.527000	0.34593	-0.352000	0.07701	0.682000	0.31407	0.650000	0.86243	CGG		0.662	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076233.2	NM_025258		4	149	0	0	0	1	0	4	149				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			23	93	0	0	0	1	0	23	93				
UBB	7314	broad.mit.edu	37	17	16285497	16285497	+	Silent	SNP	A	A	G			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr17:16285497A>G	ENST00000395837.1	+	2	457	c.276A>G	c.(274-276)gaA>gaG	p.E92E	UBB_ENST00000395839.1_Silent_p.E92E|UBB_ENST00000535788.1_Intron|UBB_ENST00000302182.3_Silent_p.E92E|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000578649.1_Intron	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	92	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)		p.E92E(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		TCACCCTGGAAGTGGAGCCCA	0.557																																					Melanoma(163;1126 3406 34901)	ENST00000302182.3																			2	Substitution - coding silent(2)	p.E92E(2)	endometrium(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(274-276)gaA>gaG		ubiquitin B																																				SO:0001819	synonymous_variant	7314				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:16285497A>G		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"""polyubiquitin B"""	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.276A>G	17.37:g.16285497A>G						UBB_ENST00000395837.1_Silent_p.E92E|UBB_ENST00000395839.1_Silent_p.E92E|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000535788.1_Intron|UBB_ENST00000578649.1_Intron	p.E92E	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	668	+			92			Ubiquitin-like 2.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	c.276A>G	CCDS11177.1																																																																																				0.557	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		3	95	0	0	0	1	0	3	95				
TUBB8P7	197331	broad.mit.edu	37	16	90162092	90162092	+	RNA	SNP	G	G	A	rs200768438	byFrequency	TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr16:90162092G>A	ENST00000564451.1	+	0	1445				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.R275Q(1)									CTGACCAGCCGGGGCAGCCAG	0.622																																						ENST00000564451.1																			1	Substitution - Missense(1)	p.R275Q(1)	endometrium(1)																																																0							g.chr16:90162092G>A			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162092G>A						TUBB8P7_ENST00000567960.1_RNA								0	1445	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.622	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		4	50	0	0	0	1	0	4	50				
RBM5	10181	broad.mit.edu	37	3	50129541	50129541	+	Missense_Mutation	SNP	G	G	A	rs148224209		TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr3:50129541G>A	ENST00000347869.3	+	3	258	c.83G>A	c.(82-84)cGt>cAt	p.R28H	RBM5_ENST00000469838.1_Missense_Mutation_p.R28H	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	28					apoptotic process (GO:0006915)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CGTGATGAGCGTGAATCCCGA	0.463																																						ENST00000347869.3																			0				breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19						c.(82-84)cGt>cAt		RNA binding motif protein 5		G	HIS/ARG	0,4406		0,0,2203	135.0	126.0	129.0		83	4.8	1.0	3	dbSNP_134	129	1,8599	1.2+/-3.3	0,1,4299	no	missense	RBM5	NM_005778.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	28/816	50129541	1,13005	2203	4300	6503	SO:0001583	missense	10181				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding	g.chr3:50129541G>A	U23946	CCDS2810.1	3p21.3	2013-08-15			ENSG00000003756	ENSG00000003756		"""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9902	protein-coding gene	gene with protein product		606884				10352938, 23935508	Standard	NM_005778		Approved	LUCA15, H37	uc003cyg.3	P52756	OTTHUMG00000156785	ENST00000347869.3:c.83G>A	3.37:g.50129541G>A	ENSP00000343054:p.Arg28His					RBM5_ENST00000469838.1_Missense_Mutation_p.R28H	p.R28H	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	3	258	+			28					B2RA45|B4DM16|B4DMF9|B4DZ63|Q93021|Q9BU14|Q9HDA6|Q9UKY8|Q9UL24	Missense_Mutation	SNP	ENST00000347869.3	37	c.83G>A	CCDS2810.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.145679	0.77888	0.0	1.16E-4	ENSG00000003756	ENST00000347869;ENST00000469838;ENST00000404526;ENST00000536082;ENST00000441305;ENST00000437500;ENST00000417905;ENST00000543047;ENST00000539538	T	0.16897	2.31	4.83	4.83	0.62350	.	0.119834	0.56097	D	0.000035	T	0.29850	0.0746	L	0.56769	1.78	0.58432	D	0.999998	P;D	0.57899	0.913;0.981	B;P	0.51701	0.273;0.677	T	0.01480	-1.1344	9	.	.	.	-8.2563	18.1078	0.89526	0.0:0.0:1.0:0.0	.	28;28	P52756;E1CJT4	RBM5_HUMAN;.	H	28;28;28;28;28;28;28;27;27	ENSP00000343054:R28H	.	R	+	2	0	RBM5	50104545	0.995000	0.38212	1.000000	0.80357	0.997000	0.91878	4.247000	0.58750	2.519000	0.84933	0.551000	0.68910	CGT		0.463	RBM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345797.3	NM_005778		3	91	0	0	0	1	0	3	91				
PLS1	5357	broad.mit.edu	37	3	142396940	142396940	+	Silent	SNP	G	G	A			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr3:142396940G>A	ENST00000337777.3	+	6	777	c.564G>A	c.(562-564)acG>acA	p.T188T	PLS1_ENST00000457734.2_Silent_p.T188T|PLS1_ENST00000497002.1_Silent_p.T188T	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	188	Actin-binding 1.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						AAAAGCTCACGCCATTCACTA	0.308																																						ENST00000337777.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						c.(562-564)acG>acA		plastin 1							126.0	122.0	123.0					3																	142396940		2203	4299	6502	SO:0001819	synonymous_variant	5357					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr3:142396940G>A	L20826	CCDS3125.1	3q23	2013-01-10	2010-02-10		ENSG00000120756	ENSG00000120756		"""EF-hand domain containing"""	9090	protein-coding gene	gene with protein product		602734	"""plastin 1 (I isoform)"""			8139549	Standard	NM_002670		Approved	I-plastin, Plastin-1	uc003euz.3	Q14651	OTTHUMG00000159292	ENST00000337777.3:c.564G>A	3.37:g.142396940G>A						PLS1_ENST00000497002.1_Silent_p.T188T|PLS1_ENST00000457734.2_Silent_p.T188T	p.T188T	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN			6	777	+			188			Actin-binding 1.|CH 1.		A8K2Q1|D3DNG3|Q8NEG6	Silent	SNP	ENST00000337777.3	37	c.564G>A	CCDS3125.1																																																																																				0.308	PLS1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354435.1	NM_002670		4	49	0	0	0	1	0	4	49				
COPS6	10980	broad.mit.edu	37	7	99688238	99688238	+	Silent	SNP	C	C	T	rs11550651		TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr7:99688238C>T	ENST00000303904.3	+	5	484	c.447C>T	c.(445-447)ccC>ccT	p.P149P	MIR25_ENST00000384816.1_RNA|COPS6_ENST00000418625.1_Silent_p.P148P	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	COP9 signalosome subunit 6	149					cullin deneddylation (GO:0010388)|viral process (GO:0016032)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TCGAGAGCCCCCTCTTTCTGA	0.498																																						ENST00000303904.3																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12						c.(445-447)ccC>ccT		COP9 signalosome subunit 6							141.0	130.0	134.0					7																	99688238		2203	4300	6503	SO:0001819	synonymous_variant	10980				cullin deneddylation|interspecies interaction between organisms	cytoplasm|signalosome	protein binding	g.chr7:99688238C>T	BC002520	CCDS5682.1	7q22.1	2013-03-14	2013-03-14		ENSG00000168090	ENSG00000168090			21749	protein-coding gene	gene with protein product	"""COP9 subunit 6 (MOV34 homolog, 34 kD)"""	614729	"""COP9 constitutive photomorphogenic homolog subunit 6 (Arabidopsis)"""			12477932	Standard	NM_006833		Approved	MOV34-34KD, CSN6	uc003usu.3	Q7L5N1	OTTHUMG00000154632	ENST00000303904.3:c.447C>T	7.37:g.99688238C>T						COPS6_ENST00000418625.1_Silent_p.P148P	p.P149P	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		5	484	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		149					A4D2A3|O15387	Silent	SNP	ENST00000303904.3	37	c.447C>T	CCDS5682.1																																																																																				0.498	COPS6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336412.3	NM_006833		4	127	0	0	0	1	0	4	127				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		5	53	0	0	0	1	0	5	53				
RAPGEF4	11069	broad.mit.edu	37	2	173832057	173832057	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr2:173832057G>T	ENST00000397081.3	+	10	1032	c.889G>T	c.(889-891)Gcc>Tcc	p.A297S	RAPGEF4_ENST00000540783.1_Missense_Mutation_p.A144S|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.A153S|RAPGEF4_ENST00000264111.6_Missense_Mutation_p.A296S|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.A126S|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.A297S|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.A77S|RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.A144S	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	297					blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			GCACGAGGATGCCCCTTTGCC	0.522																																						ENST00000264111.6																			0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(886-888)Gcc>Tcc		Rap guanine nucleotide exchange factor (GEF) 4							55.0	57.0	57.0					2																	173832057		2083	4226	6309	SO:0001583	missense	11069				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity	g.chr2:173832057G>T	U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"""cAMP-regulated guanine nucleotide exchange factor II"", "" exchange protein directly activated by cAMP 2"""	606058	"""RAP guanine-nucleotide-exchange factor (GEF) 4"""			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.889G>T	2.37:g.173832057G>T	ENSP00000380271:p.Ala297Ser					RAPGEF4_ENST00000540783.1_Missense_Mutation_p.A144S|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.A126S|RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.A297S|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.A144S|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.A297S|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.A153S|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.A77S	p.A296S			Q8WZA2	RPGF4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.194)		10	1073	+			297					B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Missense_Mutation	SNP	ENST00000397081.3	37	c.886G>T	CCDS42775.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.040438	0.55003	.	.	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036;ENST00000397087;ENST00000538974;ENST00000540783;ENST00000539331;ENST00000539767;ENST00000535187	T;T;T;T;T;T;T;T	0.12984	2.63;2.63;2.63;2.63;2.63;2.63;2.63;2.63	5.31	5.31	0.75309	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.12305	0.0299	L	0.29908	0.895	0.80722	D	1	B;B;B;B;B	0.18610	0.0;0.001;0.029;0.007;0.024	B;B;B;B;B	0.16289	0.002;0.001;0.015;0.009;0.007	T	0.13548	-1.0505	10	0.17832	T	0.49	.	18.9765	0.92738	0.0:0.0:1.0:0.0	.	124;126;153;297;297	B7Z805;B7Z2R0;Q8WZA2-3;Q8WZA2;E9PB94	.;.;.;RPGF4_HUMAN;.	S	296;297;297;153;126;144;144;124;77	ENSP00000264111:A296S;ENSP00000380271:A297S;ENSP00000387104:A297S;ENSP00000380276:A153S;ENSP00000440135:A126S;ENSP00000440250:A144S;ENSP00000437384:A144S;ENSP00000438011:A77S	ENSP00000264111:A296S	A	+	1	0	RAPGEF4	173540303	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.583000	0.74053	2.478000	0.83669	0.561000	0.74099	GCC		0.522	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257864.2	NM_007023		10	26	1	0	0.000442599	1	0.000460788	10	26				
FRG1B	284802	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr20:29628300G>A	ENST00000278882.3	+	6	682	c.302G>A	c.(301-303)aGt>aAt	p.S101N	FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	101								p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.S101N(2)	prostate(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(301-303)aGt>aAt																																						SO:0001583	missense	0							g.chr20:29628300G>A			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.302G>A	20.37:g.29628300G>A	ENSP00000278882:p.Ser101Asn					FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N	p.S101N							6	682	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.302G>A		.	.	.	.	.	.	.	.	.	.	g	10.56	1.384968	0.25031	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.125588	0.64402	N	0.000001	T	0.33265	0.0857	.	.	.	0.40357	D	0.979199	B;B	0.16802	0.003;0.019	B;B	0.16289	0.007;0.015	T	0.20605	-1.0270	9	0.33940	T	0.23	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	106;101	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	N	101;106;101	ENSP00000408863:S106N	ENSP00000278882:S101N	S	+	2	0	FRG1B	28241961	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.004000	0.40854	1.475000	0.48197	0.423000	0.28283	AGT		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	118	0	0	0	1	0	5	118				
SNTG1	54212	broad.mit.edu	37	8	51363119	51363119	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr8:51363119A>T	ENST00000522124.1	+	7	942	c.281A>T	c.(280-282)gAa>gTa	p.E94V	SNTG1_ENST00000518864.1_Missense_Mutation_p.E94V|SNTG1_ENST00000276467.5_Missense_Mutation_p.E94V|SNTG1_ENST00000517473.1_Missense_Mutation_p.E94V	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	94	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TTCACAGCGGAACTTTCAGGA	0.289																																						ENST00000522124.1																			0				NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66						c.(280-282)gAa>gTa		syntrophin, gamma 1							163.0	154.0	157.0					8																	51363119		2203	4300	6503	SO:0001583	missense	54212				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	g.chr8:51363119A>T	AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.281A>T	8.37:g.51363119A>T	ENSP00000429842:p.Glu94Val					SNTG1_ENST00000518864.1_Missense_Mutation_p.E94V|SNTG1_ENST00000517473.1_Missense_Mutation_p.E94V|SNTG1_ENST00000276467.5_Missense_Mutation_p.E94V	p.E94V	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN			7	942	+		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)	94			PDZ.		Q2M3Q0|Q9NY98	Missense_Mutation	SNP	ENST00000522124.1	37	c.281A>T	CCDS6147.1	.	.	.	.	.	.	.	.	.	.	A	16.17	3.048522	0.55110	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	T;T;T;T	0.32988	1.43;1.43;1.43;1.43	5.32	5.32	0.75619	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.49966	0.1588	L	0.53249	1.67	0.80722	D	1	D;D	0.76494	0.999;0.991	D;D	0.78314	0.966;0.991	T	0.51903	-0.8646	10	0.87932	D	0	.	13.2281	0.59927	1.0:0.0:0.0:0.0	.	94;94	Q9NSN8-2;Q9NSN8	.;SNTG1_HUMAN	V	94	ENSP00000429276:E94V;ENSP00000429842:E94V;ENSP00000431123:E94V;ENSP00000276467:E94V	ENSP00000276467:E94V	E	+	2	0	SNTG1	51525672	1.000000	0.71417	1.000000	0.80357	0.347000	0.29111	6.060000	0.71141	2.003000	0.58678	0.528000	0.53228	GAA		0.289	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1			4	127	0	0	0	1	0	4	127				
DPY19L2	283417	broad.mit.edu	37	12	64041106	64041106	+	Missense_Mutation	SNP	T	T	C	rs200602630		TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr12:64041106T>C	ENST00000324472.4	-	5	811	c.628A>G	c.(628-630)Atg>Gtg	p.M210V	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	210					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		AATAAATTCATTATTCCCATG	0.318																																						ENST00000324472.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(628-630)Atg>Gtg		dpy-19-like 2 (C. elegans)							64.0	68.0	67.0					12																	64041106		2203	4298	6501	SO:0001583	missense	283417				multicellular organismal development|spermatid development	integral to membrane		g.chr12:64041106T>C		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"""spermatogenesis associated 34"""	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.628A>G	12.37:g.64041106T>C	ENSP00000315988:p.Met210Val					RP11-415I12.3_ENST00000509615.2_RNA	p.M210V	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)	5	811	-			210					A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	ENST00000324472.4	37	c.628A>G	CCDS31851.1	137	0.06272893772893773	57	0.11585365853658537	8	0.022099447513812154	55	0.09615384615384616	17	0.022427440633245383	T	2.494	-0.316745	0.05386	.	.	ENSG00000177990	ENST00000324472	T	0.54479	0.57	2.35	1.07	0.20283	.	0.097071	0.64402	U	0.000002	T	0.00440	0.0014	.	.	.	0.80722	D	1	B	0.24258	0.1	B	0.22152	0.038	T	0.04373	-1.0956	8	.	.	.	.	4.6287	0.12491	0.2818:0.0:0.0:0.7182	.	210	Q6NUT2	D19L2_HUMAN	V	210	ENSP00000315988:M210V	.	M	-	1	0	DPY19L2	62327373	1.000000	0.71417	0.995000	0.50966	0.654000	0.38779	3.307000	0.51888	0.118000	0.18165	0.155000	0.16302	ATG		0.318	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		3	135	0	0	0	1	0	3	135				
RP11-423O2.5	0	broad.mit.edu	37	1	142803552	142803552	+	lincRNA	SNP	T	T	A			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr1:142803552T>A	ENST00000423385.1	-	0	1413																											TCCTGATGAATCTGCAGTCAG	0.269																																						ENST00000423385.1																			0																																																			0							g.chr1:142803552T>A																													1.37:g.142803552T>A														0	1413	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.269	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			15	177	0	0	0	1	0	15	177				
ALG1L2	644974	broad.mit.edu	37	3	129817028	129817028	+	RNA	SNP	G	G	C			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr3:129817028G>C	ENST00000507643.1	+	0	647				AC083906.2_ENST00000578837.1_RNA			C9J202	AG1L2_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like 2								transferase activity, transferring glycosyl groups (GO:0016757)										ACCTGGGATGGGGTGGGGACA	0.542																																						ENST00000507643.1																			0																																																			0				biosynthetic process		transferase activity, transferring glycosyl groups	g.chr3:129817028G>C	BC127756		3q22.1	2013-02-22	2013-02-22		ENSG00000251287	ENSG00000251287		"""Glycosyltransferase group 1 domain containing"""	37258	other	unknown			"""asparagine-linked glycosylation 1-like 2"""				Standard	NM_001136152		Approved		uc011bld.2	C9J202	OTTHUMG00000159782		3.37:g.129817028G>C										C9J202	AG1L2_HUMAN			0	647	+									RNA	SNP	ENST00000507643.1	37																																																																																						0.542	ALG1L2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357289.1	NM_001136152		3	38	0	0	0	1	0	3	38				
TLL1	7092	broad.mit.edu	37	4	166996111	166996111	+	Missense_Mutation	SNP	G	G	A	rs114965343		TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr4:166996111G>A	ENST00000061240.2	+	17	2917	c.2270G>A	c.(2269-2271)cGt>cAt	p.R757H	TLL1_ENST00000507499.1_Missense_Mutation_p.R780H	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	757	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TGTCAATGCCGTAATGGATTT	0.403													G|||	1	0.000199681	0.0	0.0	5008	,	,		23789	0.001		0.0	False		,,,				2504	0.0					ENST00000061240.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(2269-2271)cGt>cAt		tolloid-like 1		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	286.0	234.0	252.0		2270	4.9	1.0	4	dbSNP_132	252	0,8600		0,0,4300	no	missense	TLL1	NM_012464.4	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	757/1014	166996111	1,13005	2203	4300	6503	SO:0001583	missense	7092				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr4:166996111G>A	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.2270G>A	4.37:g.166996111G>A	ENSP00000061240:p.Arg757His					TLL1_ENST00000507499.1_Missense_Mutation_p.R780H	p.R757H	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	17	2917	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	757			EGF-like 2; calcium-binding (Potential).		B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	ENST00000061240.2	37	c.2270G>A	CCDS3811.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	16.07	3.019551	0.54576	2.27E-4	0.0	ENSG00000038295	ENST00000061240;ENST00000507499	D;D	0.96396	-4.0;-4.0	5.72	4.88	0.63580	EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	D	0.96408	0.8828	L	0.33710	1.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	D	0.95631	0.8689	10	0.31617	T	0.26	.	15.0088	0.71533	0.0683:0.0:0.9317:0.0	.	780;757	E9PD25;O43897	.;TLL1_HUMAN	H	757;780	ENSP00000061240:R757H;ENSP00000426082:R780H	ENSP00000061240:R757H	R	+	2	0	TLL1	167215561	1.000000	0.71417	0.965000	0.40720	0.005000	0.04900	9.714000	0.98744	1.556000	0.49512	0.650000	0.86243	CGT		0.403	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1			4	256	0	0	0	1	0	4	256				
MST1L	11223	broad.mit.edu	37	1	17083652	17083652	+	RNA	SNP	C	C	T	rs113710576		TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr1:17083652C>T	ENST00000455405.2	-	0	936							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										aaatctcaaccttgagtacaa	0.388																																						ENST00000455405.2																			0																																																			0							g.chr1:17083652C>T	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17083652C>T														0	936	-								B7WPB1|Q13209	RNA	SNP	ENST00000455405.2	37																																																																																						0.388	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733		4	77	0	0	0	1	0	4	77				
NUP210	23225	broad.mit.edu	37	3	13407500	13407500	+	Silent	SNP	G	G	A			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr3:13407500G>A	ENST00000254508.5	-	14	1960	c.1878C>T	c.(1876-1878)caC>caT	p.H626H		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	626					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GGACGTGGCCGTGTCTGTAGC	0.637																																						ENST00000254508.5																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(1876-1878)caC>caT		nucleoporin 210kDa							119.0	108.0	112.0					3																	13407500		2203	4300	6503	SO:0001819	synonymous_variant	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13407500G>A	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.1878C>T	3.37:g.13407500G>A							p.H626H	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN			14	1960	-	all_neural(104;0.187)		626					A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Silent	SNP	ENST00000254508.5	37	c.1878C>T	CCDS33704.1																																																																																				0.637	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		3	72	0	0	0	1	0	3	72				
NRXN2	9379	broad.mit.edu	37	11	64418799	64418799	+	Missense_Mutation	SNP	G	G	A	rs139892428		TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr11:64418799G>A	ENST00000377551.1	-	13	3057	c.2846C>T	c.(2845-2847)aCg>aTg	p.T949M	NRXN2_ENST00000377559.3_Missense_Mutation_p.T909M|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000409571.1_Missense_Mutation_p.T942M|NRXN2_ENST00000265459.6_Missense_Mutation_p.T949M			Q9P2S2	NRX2A_HUMAN	neurexin 2	949	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						ATCAGGGGCCGTGGTCTTGAA	0.582											OREG0021057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000265459.6																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						c.(2845-2847)aCg>aTg		neurexin 2		G	MET/THR,MET/THR	0,4402		0,0,2201	81.0	63.0	69.0		2846,2726	4.2	1.0	11	dbSNP_134	69	1,8593	1.2+/-3.3	0,1,4296	no	missense,missense	NRXN2	NM_015080.3,NM_138732.2	81,81	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	949/1713,909/1643	64418799	1,12995	2201	4297	6498	SO:0001583	missense	9379				cell adhesion	integral to membrane	metal ion binding	g.chr11:64418799G>A		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.2846C>T	11.37:g.64418799G>A	ENSP00000366774:p.Thr949Met		OREG0021057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1076	AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000409571.1_Missense_Mutation_p.T942M|NRXN2_ENST00000377551.1_Missense_Mutation_p.T949M|NRXN2_ENST00000377559.3_Missense_Mutation_p.T909M	p.T949M	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN			14	3307	-			949			Laminin G-like 5.		A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	c.2846C>T	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.077618	0.76528	0.0	1.16E-4	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33	4.2	4.2	0.49525	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.122222	0.27504	U	0.019064	D	0.86740	0.6005	M	0.70108	2.13	0.35860	D	0.827426	D;D;D	0.89917	1.0;0.998;0.984	D;D;P	0.69142	0.962;0.957;0.579	D	0.89903	0.4046	10	0.66056	D	0.02	.	10.0322	0.42107	0.0:0.2056:0.7944:0.0	.	909;949;695	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	M	949;909;949;909;942	ENSP00000366774:T949M;ENSP00000366782:T909M;ENSP00000265459:T949M;ENSP00000386416:T942M	ENSP00000265459:T949M	T	-	2	0	NRXN2	64175375	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	7.630000	0.83225	2.172000	0.68678	0.561000	0.74099	ACG		0.582	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		3	62	0	0	0	1	0	3	62				
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	82								p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L82S(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(244-246)tTg>tCg																																						SO:0001583	missense	0							g.chr20:29628243T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.245T>C	20.37:g.29628243T>C	ENSP00000278882:p.Leu82Ser					FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S	p.L82S							6	625	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.245T>C		.	.	.	.	.	.	.	.	.	.	t	12.14	1.848999	0.32699	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.147685	0.45361	D	0.000380	T	0.38665	0.1049	.	.	.	0.46185	D	0.99891	B;B	0.27656	0.03;0.184	B;B	0.35813	0.11;0.211	T	0.24548	-1.0157	9	0.38643	T	0.18	.	8.0833	0.30758	0.0:0.0:0.0:1.0	.	87;82	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	82;87;82	ENSP00000408863:L87S	ENSP00000278882:L82S	L	+	2	0	FRG1B	28241904	1.000000	0.71417	0.998000	0.56505	0.541000	0.35023	6.955000	0.76007	1.208000	0.43306	0.347000	0.21830	TTG		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	222	0	0	0	1	0	4	222				
DAW1	164781	broad.mit.edu	37	2	228786221	228786221	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr2:228786221A>C	ENST00000309931.2	+	12	1240	c.1157A>C	c.(1156-1158)cAc>cCc	p.H386P	DAW1_ENST00000373666.2_3'UTR|DAW1_ENST00000545118.1_Missense_Mutation_p.H371P	NM_178821.1	NP_849143.1	Q8N136	DAW1_HUMAN	dynein assembly factor with WDR repeat domains 1	386						cilium (GO:0005929)											CTTGAGGGGCACACTGATGAA	0.443																																						ENST00000309931.2																			0											c.(1156-1158)cAc>cCc		dynein assembly factor with WDR repeat domains 1							100.0	96.0	97.0					2																	228786221		2203	4300	6503	SO:0001583	missense	164781							g.chr2:228786221A>C		CCDS2470.1	2q36.3	2013-09-03	2013-02-19	2013-02-19	ENSG00000123977	ENSG00000123977		"""WD repeat domain containing"""	26383	protein-coding gene	gene with protein product	"""outer row dynein assembly 16 homolog (Chlamydomonas)"""		"""WD repeat domain 69"""	WDR69		20568242, 21953912	Standard	NM_178821		Approved	FLJ25955, ODA16	uc002vpn.1	Q8N136	OTTHUMG00000133190	ENST00000309931.2:c.1157A>C	2.37:g.228786221A>C	ENSP00000311899:p.His386Pro					DAW1_ENST00000373666.2_3'UTR|DAW1_ENST00000545118.1_Missense_Mutation_p.H371P	p.H386P	NM_178821.1	NP_849143.1					12	1240	+								Q6ZRY1|Q8N776	Missense_Mutation	SNP	ENST00000309931.2	37	c.1157A>C	CCDS2470.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.234253	0.79688	.	.	ENSG00000123977	ENST00000309931;ENST00000545118	T;T	0.81163	-1.46;-1.46	5.41	5.41	0.78517	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.301827	0.35320	N	0.003289	D	0.92146	0.7510	H	0.94542	3.55	0.80722	D	1	D	0.67145	0.996	D	0.74023	0.982	D	0.94188	0.7438	10	0.87932	D	0	.	14.6405	0.68720	1.0:0.0:0.0:0.0	.	386	Q8N136	WDR69_HUMAN	P	386;371	ENSP00000311899:H386P;ENSP00000437887:H371P	ENSP00000311899:H386P	H	+	2	0	WDR69	228494465	1.000000	0.71417	0.988000	0.46212	0.988000	0.76386	8.420000	0.90256	2.049000	0.60858	0.528000	0.53228	CAC		0.443	DAW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331745.1	NM_178821		7	102	0	0	0	1	0	7	102				
NXPH4	11247	broad.mit.edu	37	12	57619192	57619192	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr12:57619192G>A	ENST00000349394.5	+	2	764	c.589G>A	c.(589-591)Gca>Aca	p.A197T	Y_RNA_ENST00000365197.1_RNA|NXPH4_ENST00000555154.1_3'UTR	NM_007224.3	NP_009155.1	O95158	NXPH4_HUMAN	neurexophilin 4	197	IV (linker domain).				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	10						GGGGATGGCAGCAGCAGCGGC	0.766																																						ENST00000349394.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(589-591)Gca>Aca		neurexophilin 4							13.0	18.0	17.0					12																	57619192		2077	4132	6209	SO:0001583	missense	11247				neuropeptide signaling pathway	extracellular region		g.chr12:57619192G>A	AF043469	CCDS8933.1	12q13.3	2014-09-04			ENSG00000182379	ENSG00000182379			8078	protein-coding gene	gene with protein product		604637				9570794	Standard	NM_007224		Approved	NPH4	uc009zpj.4	O95158	OTTHUMG00000171241	ENST00000349394.5:c.589G>A	12.37:g.57619192G>A	ENSP00000333593:p.Ala197Thr					NXPH4_ENST00000555154.1_3'UTR	p.A197T	NM_007224.3	NP_009155.1	O95158	NXPH4_HUMAN			2	764	+			197			IV (linker domain).		A8K4I4|Q7Z6L3|Q8N462	Missense_Mutation	SNP	ENST00000349394.5	37	c.589G>A	CCDS8933.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.294291	0.23564	.	.	ENSG00000182379	ENST00000349394	.	.	.	3.31	2.34	0.29019	.	2.550150	0.02576	N	0.098310	T	0.17280	0.0415	N	0.08118	0	0.09310	N	1	P	0.51057	0.941	B	0.37780	0.258	T	0.26710	-1.0095	9	0.66056	D	0.02	.	7.7042	0.28640	0.0:0.0:0.7516:0.2484	.	197	O95158	NXPH4_HUMAN	T	197	.	ENSP00000333593:A197T	A	+	1	0	NXPH4	55905459	.	.	0.112000	0.21494	0.677000	0.39632	.	.	1.672000	0.50884	0.462000	0.41574	GCA		0.766	NXPH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412474.1	NM_007224		3	64	0	0	0	1	0	3	64				
C11orf84	144097	broad.mit.edu	37	11	63581248	63581248	+	Silent	SNP	G	G	A			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr11:63581248G>A	ENST00000294244.4	+	1	389	c.90G>A	c.(88-90)gtG>gtA	p.V30V		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	30										endometrium(3)|kidney(1)|lung(3)|skin(1)	8						AGGCCATGGTGGTGGCCGTAA	0.687																																						ENST00000294244.4																			0				endometrium(3)|kidney(1)|lung(3)|skin(1)	8						c.(88-90)gtG>gtA		chromosome 11 open reading frame 84							35.0	33.0	34.0					11																	63581248		2201	4297	6498	SO:0001819	synonymous_variant	144097							g.chr11:63581248G>A	BC007540	CCDS31594.1	11q13.1	2014-02-10			ENSG00000168005	ENSG00000168005			25115	protein-coding gene	gene with protein product						12477932	Standard	NM_138471		Approved		uc001nxt.3	Q9BUA3	OTTHUMG00000167746	ENST00000294244.4:c.90G>A	11.37:g.63581248G>A							p.V30V	NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN			1	389	+			30					Q68CV7|Q6PHS2|Q96IH0	Silent	SNP	ENST00000294244.4	37	c.90G>A	CCDS31594.1																																																																																				0.687	C11orf84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396084.1	NM_138471		3	49	0	0	0	1	0	3	49				
ADAMTS5	11096	broad.mit.edu	37	21	28327146	28327146	+	Silent	SNP	G	G	A			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr21:28327146G>A	ENST00000284987.5	-	2	1270	c.1149C>T	c.(1147-1149)gaC>gaT	p.D383D	MIR4759_ENST00000584048.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	383	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TGGTCCCAACGTCTGCCATTC	0.507																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	ENST00000284987.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						c.(1147-1149)gaC>gaT		ADAM metallopeptidase with thrombospondin type 1 motif, 5							91.0	82.0	85.0					21																	28327146		2203	4300	6503	SO:0001819	synonymous_variant	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28327146G>A	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.1149C>T	21.37:g.28327146G>A							p.D383D	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN			2	1270	-			383			Peptidase M12B.		Q52LV4|Q9UKP2	Silent	SNP	ENST00000284987.5	37	c.1149C>T	CCDS13579.1																																																																																				0.507	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			8	66	0	0	0	1	0	8	66				
SAMD3	154075	broad.mit.edu	37	6	130467207	130467207	+	Silent	SNP	A	A	G			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr6:130467207A>G	ENST00000368134.2	-	12	1751	c.1143T>C	c.(1141-1143)aaT>aaC	p.N381N	SAMD3_ENST00000437477.2_Silent_p.N381N|SAMD3_ENST00000439090.2_Silent_p.N381N|RP11-73O6.3_ENST00000609978.1_RNA|SAMD3_ENST00000457563.2_Silent_p.N405N	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	381										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		GCAATACAATATTGATTGGAT	0.303																																						ENST00000368134.2																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29						c.(1141-1143)aaT>aaC		sterile alpha motif domain containing 3							106.0	106.0	106.0					6																	130467207		2202	4294	6496	SO:0001819	synonymous_variant	154075							g.chr6:130467207A>G	AK091351	CCDS34539.1, CCDS64525.1	6q23.1	2013-01-10			ENSG00000164483	ENSG00000164483		"""Sterile alpha motif (SAM) domain containing"""	21574	protein-coding gene	gene with protein product							Standard	NM_001017373		Approved	bA73O6.2, FLJ34032	uc031spp.1	Q8N6K7	OTTHUMG00000015556	ENST00000368134.2:c.1143T>C	6.37:g.130467207A>G						SAMD3_ENST00000439090.2_Silent_p.N381N|SAMD3_ENST00000437477.2_Silent_p.N381N|SAMD3_ENST00000457563.2_Silent_p.N405N	p.N381N	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN		GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)	12	1751	-			381					B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96	Silent	SNP	ENST00000368134.2	37	c.1143T>C	CCDS34539.1	.	.	.	.	.	.	.	.	.	.	A	4.296	0.054091	0.08291	.	.	ENSG00000164483	ENST00000463253	.	.	.	5.64	-0.846	0.10734	.	.	.	.	.	T	0.17534	0.0421	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.32402	-0.9908	4	.	.	.	.	10.954	0.47347	0.5753:0.0:0.4247:0.0	.	.	.	.	T	50	.	.	I	-	2	0	SAMD3	130508900	0.000000	0.05858	0.011000	0.14972	0.756000	0.42949	0.072000	0.14617	-0.293000	0.08986	0.528000	0.53228	ATA		0.303	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042197.3	NM_152552		19	60	0	0	0	1	0	19	60				
C2orf76	130355	broad.mit.edu	37	2	120078761	120078761	+	Silent	SNP	G	G	A			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr2:120078761G>A	ENST00000409466.2	-	4	674	c.153C>T	c.(151-153)aaC>aaT	p.N51N	C2orf76_ENST00000409523.1_Silent_p.N51N|C2orf76_ENST00000409877.1_Silent_p.N51N|C2orf76_ENST00000334816.7_Silent_p.N51N			Q3KRA6	CB076_HUMAN	chromosome 2 open reading frame 76	51										large_intestine(1)|lung(3)|pancreas(1)	5						GTGGTGGCAGGTTGGTCCTTA	0.264																																						ENST00000409466.2																			0				large_intestine(1)|lung(3)|pancreas(1)	5						c.(151-153)aaC>aaT		chromosome 2 open reading frame 76							80.0	76.0	77.0					2																	120078761		1786	4061	5847	SO:0001819	synonymous_variant	130355							g.chr2:120078761G>A		CCDS42739.1	2q14.2	2011-05-09			ENSG00000186132	ENSG00000186132			27017	protein-coding gene	gene with protein product						12477932	Standard	NM_001017927		Approved	MGC104437, LOC130355, AIM29	uc002tls.2	Q3KRA6	OTTHUMG00000153298	ENST00000409466.2:c.153C>T	2.37:g.120078761G>A						C2orf76_ENST00000409877.1_Silent_p.N51N|C2orf76_ENST00000409523.1_Silent_p.N51N|C2orf76_ENST00000334816.7_Silent_p.N51N	p.N51N			Q3KRA6	CB076_HUMAN			4	674	-			51					B7ZLS8|Q4VC35	Silent	SNP	ENST00000409466.2	37	c.153C>T	CCDS42739.1																																																																																				0.264	C2orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330582.2	NM_001017927		12	62	0	0	0	1	0	12	62				
SCAP	22937	broad.mit.edu	37	3	47455847	47455847	+	Missense_Mutation	SNP	A	A	C	rs371749768		TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr3:47455847A>C	ENST00000265565.5	-	22	3829	c.3417T>G	c.(3415-3417)gaT>gaG	p.D1139E	SCAP_ENST00000441517.2_Missense_Mutation_p.D883E|SCAP_ENST00000545718.1_Missense_Mutation_p.D746E	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	1139	Interaction with SREBF2. {ECO:0000250}.				aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		AGATGGCCCCATCTTGTCCTC	0.597																																					Pancreas(149;978 1908 29304 37806 46700)	ENST00000265565.5																			0				endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26						c.(3415-3417)gaT>gaG		SREBF chaperone							60.0	52.0	55.0					3																	47455847		2203	4300	6503	SO:0001583	missense	22937				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding	g.chr3:47455847A>C	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"""WD repeat domain containing"""	30634	protein-coding gene	gene with protein product	"""SREBP cleavage activating protein"""	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.3417T>G	3.37:g.47455847A>C	ENSP00000265565:p.Asp1139Glu					SCAP_ENST00000545718.1_Missense_Mutation_p.D746E|SCAP_ENST00000441517.2_Missense_Mutation_p.D883E	p.D1139E	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)	22	3829	-			1139			Interaction with SREBF2 (By similarity).		Q8N2E0|Q8WUA1	Missense_Mutation	SNP	ENST00000265565.5	37	c.3417T>G	CCDS2755.2	.	.	.	.	.	.	.	.	.	.	A	22.9	4.344543	0.82022	.	.	ENSG00000114650	ENST00000339815;ENST00000360832;ENST00000265565;ENST00000441517;ENST00000545718	D;D;D	0.89196	-2.48;-2.48;-2.48	4.96	-2.03	0.07365	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.93533	0.7936	M	0.87682	2.9	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.92153	0.5730	10	0.87932	D	0	-21.2078	11.5887	0.50933	0.5091:0.0:0.4909:0.0	.	883;1139	F8W921;Q12770	.;SCAP_HUMAN	E	631;765;1139;883;746	ENSP00000265565:D1139E;ENSP00000416847:D883E;ENSP00000438956:D746E	ENSP00000265565:D1139E	D	-	3	2	SCAP	47430851	0.980000	0.34600	0.990000	0.47175	0.998000	0.95712	0.235000	0.17948	-0.425000	0.07371	0.533000	0.62120	GAT		0.597	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235		6	92	0	0	0	1	0	6	92				
ZNF83	55769	broad.mit.edu	37	19	53116885	53116885	+	Silent	SNP	A	A	G	rs7247257	byFrequency	TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr19:53116885A>G	ENST00000597597.1	-	2	3186	c.933T>C	c.(931-933)caT>caC	p.H311H	ZNF83_ENST00000541777.2_Silent_p.H311H|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000545872.1_Silent_p.H311H|ZNF83_ENST00000301096.3_Silent_p.H311H|ZNF83_ENST00000544146.1_Silent_p.H311H|ZNF83_ENST00000391789.4_Silent_p.H283H|ZNF83_ENST00000536937.1_Silent_p.H311H|ZNF83_ENST00000600714.1_Intron			P51522	ZNF83_HUMAN	zinc finger protein 83	311					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TCTCTCCAGTATGAATTCTCC	0.418													A|||	38	0.00758786	0.0234	0.0043	5008	,	,		21479	0.002		0.001	False		,,,				2504	0.001					ENST00000597597.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(931-933)caT>caC		zinc finger protein 83							108.0	113.0	111.0					19																	53116885		2201	4300	6501	SO:0001819	synonymous_variant	55769					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:53116885A>G	M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"""Zinc fingers, C2H2-type"""	13158	protein-coding gene	gene with protein product		194558	"""zinc finger protein 83 (HPF1)"", ""zinc finger protein 816B"""	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.933T>C	19.37:g.53116885A>G						ZNF83_ENST00000391789.4_Silent_p.H283H|ZNF83_ENST00000536937.1_Silent_p.H311H|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000301096.3_Silent_p.H311H|ZNF83_ENST00000545872.1_Silent_p.H311H|ZNF83_ENST00000544146.1_Silent_p.H311H|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000541777.2_Silent_p.H311H	p.H311H			P51522	ZNF83_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)	2	3186	-			311					A8MT75|Q3ZCX0|Q6PI08	Silent	SNP	ENST00000597597.1	37	c.933T>C	CCDS12854.1																																																																																				0.418	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463700.1	NM_018300		3	139	0	0	0	1	0	3	139				
CDC6	990	broad.mit.edu	37	17	38447897	38447897	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr17:38447897A>G	ENST00000209728.4	+	4	1108	c.637A>G	c.(637-639)Agc>Ggc	p.S213G		NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	213					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|positive regulation of chromosome segregation (GO:0051984)|positive regulation of cytokinesis (GO:0032467)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|traversing start control point of mitotic cell cycle (GO:0007089)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|kinase binding (GO:0019900)|nucleotide binding (GO:0000166)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						TGCCTGCTTAAGCCGGATTCT	0.408																																						ENST00000209728.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						c.(637-639)Agc>Ggc		cell division cycle 6							101.0	109.0	106.0					17																	38447897		2203	4300	6503	SO:0001583	missense	990				cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity	g.chr17:38447897A>G	U77949	CCDS11365.1	17q21.3	2013-01-17	2013-01-17		ENSG00000094804	ENSG00000094804			1744	protein-coding gene	gene with protein product		602627	"""CDC6 (cell division cycle 6, S. cerevisiae) homolog"", ""CDC6 cell division cycle 6 homolog (S. cerevisiae)"", ""cell division cycle 6 homolog (S. cerevisiae)"""	CDC18L		8990175, 9566895	Standard	NM_001254		Approved		uc002huj.1	Q99741	OTTHUMG00000133324	ENST00000209728.4:c.637A>G	17.37:g.38447897A>G	ENSP00000209728:p.Ser213Gly						p.S213G	NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN			4	1108	+			213					Q8TB30	Missense_Mutation	SNP	ENST00000209728.4	37	c.637A>G	CCDS11365.1	.	.	.	.	.	.	.	.	.	.	A	17.60	3.430069	0.62844	.	.	ENSG00000094804	ENST00000209728	T	0.56444	0.46	6.16	5.09	0.68999	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.164077	0.64402	N	0.000003	T	0.46014	0.1371	L	0.32530	0.975	0.38326	D	0.943656	B	0.29270	0.24	B	0.37550	0.253	T	0.45877	-0.9231	10	0.33940	T	0.23	-14.5241	11.5807	0.50889	0.9297:0.0:0.0703:0.0	.	213	Q99741	CDC6_HUMAN	G	213	ENSP00000209728:S213G	ENSP00000209728:S213G	S	+	1	0	CDC6	35701423	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.661000	0.83786	1.144000	0.42321	-0.297000	0.09499	AGC		0.408	CDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257129.1			9	102	0	0	0	1	0	9	102				
POM121L9P	29774	broad.mit.edu	37	22	24659734	24659734	+	RNA	SNP	T	T	C			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr22:24659734T>C	ENST00000414583.2	+	0	3259					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		CTCTCTCCTGTGGGAGGGGGG	0.632																																						ENST00000414583.2																			0																																																			0							g.chr22:24659734T>C	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659734T>C								NR_003714.1						0	3259	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.632	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		3	23	0	0	0	1	0	3	23				
LILRP2	79166	broad.mit.edu	37	19	55221570	55221570	+	RNA	SNP	A	A	C	rs554223424	byFrequency	TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	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		4	104	0	0	0	1	0	4	104				
DENND3	22898	broad.mit.edu	37	8	142186811	142186811	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr8:142186811T>C	ENST00000262585.2	+	15	2695	c.2417T>C	c.(2416-2418)cTg>cCg	p.L806P	DENND3_ENST00000424248.1_Missense_Mutation_p.L754P|DENND3_ENST00000519811.1_Missense_Mutation_p.L886P	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	806					cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CTTTGGCACCTGATGGTGAAG	0.542																																						ENST00000519811.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55						c.(2656-2658)cTg>cCg		DENN/MADD domain containing 3							122.0	104.0	110.0					8																	142186811		2203	4300	6503	SO:0001583	missense	22898							g.chr8:142186811T>C	AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"""DENN/MADD domain containing"", ""WD repeat domain containing"""	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.2417T>C	8.37:g.142186811T>C	ENSP00000262585:p.Leu806Pro					DENND3_ENST00000424248.1_Missense_Mutation_p.L754P|DENND3_ENST00000262585.2_Missense_Mutation_p.L806P	p.L886P			A2RUS2	DEND3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.105)		15	2727	+	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		806					B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Missense_Mutation	SNP	ENST00000262585.2	37	c.2657T>C	CCDS34947.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.651267	0.88056	.	.	ENSG00000105339	ENST00000262585;ENST00000424248;ENST00000519811	T;T;T	0.17691	2.72;2.26;2.7	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.43389	0.1245	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.42816	-0.9429	10	0.87932	D	0	-30.6367	15.3861	0.74703	0.0:0.0:0.0:1.0	.	886;806	E9PF32;A2RUS2	.;DEND3_HUMAN	P	806;754;886	ENSP00000262585:L806P;ENSP00000410594:L754P;ENSP00000428714:L886P	ENSP00000262585:L806P	L	+	2	0	DENND3	142255993	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.440000	0.80464	2.018000	0.59344	0.528000	0.53228	CTG		0.542	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957		3	127	0	0	0	1	0	3	127				
AHCYL2	23382	broad.mit.edu	37	7	129053510	129053510	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr7:129053510C>A	ENST00000325006.3	+	12	1496	c.1442C>A	c.(1441-1443)tCc>tAc	p.S481Y	AHCYL2_ENST00000446212.1_Missense_Mutation_p.S379Y|AHCYL2_ENST00000446544.2_Missense_Mutation_p.S480Y|AHCYL2_ENST00000531335.2_Missense_Mutation_p.S400Y|AHCYL2_ENST00000490911.1_Missense_Mutation_p.S378Y|AHCYL2_ENST00000474594.1_Missense_Mutation_p.S378Y	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	481					one-carbon metabolic process (GO:0006730)		adenosylhomocysteinase activity (GO:0004013)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						ATGGGACATTCCAACACAGAG	0.433																																					Pancreas(160;1736 1964 29875 40941 45605)	ENST00000325006.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						c.(1441-1443)tCc>tAc		adenosylhomocysteinase-like 2							165.0	138.0	147.0					7																	129053510		2203	4300	6503	SO:0001583	missense	23382				one-carbon metabolic process		adenosylhomocysteinase activity	g.chr7:129053510C>A	AB020635	CCDS5812.1, CCDS47706.1, CCDS47707.1, CCDS47708.1, CCDS47707.2	7q32.1	2009-06-12	2009-06-12		ENSG00000158467	ENSG00000158467			22204	protein-coding gene	gene with protein product			"""S-adenosylhomocysteine hydrolase-like 2"""				Standard	NM_001130720		Approved	KIAA0828	uc011kov.2	Q96HN2	OTTHUMG00000157677	ENST00000325006.3:c.1442C>A	7.37:g.129053510C>A	ENSP00000315931:p.Ser481Tyr					AHCYL2_ENST00000490911.1_Missense_Mutation_p.S378Y|AHCYL2_ENST00000531335.2_Missense_Mutation_p.S400Y|AHCYL2_ENST00000446544.2_Missense_Mutation_p.S480Y|AHCYL2_ENST00000446212.1_Missense_Mutation_p.S379Y|AHCYL2_ENST00000474594.1_Missense_Mutation_p.S378Y	p.S481Y	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN			12	1496	+			481					B4DIZ5|D9N155|O94917	Missense_Mutation	SNP	ENST00000325006.3	37	c.1442C>A	CCDS5812.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.19|18.19	3.568144|3.568144	0.65651|0.65651	.|.	.|.	ENSG00000158467|ENSG00000158467	ENST00000466924|ENST00000325006;ENST00000446544;ENST00000531335;ENST00000474594;ENST00000446212;ENST00000490911	.|T;T;T;T;T;T	.|0.78003	.|-1.14;-1.13;-1.11;-1.1;-1.11;-1.1	5.7|5.7	5.7|5.7	0.88788|0.88788	.|S-adenosyl-L-homocysteine hydrolase, NAD binding (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.75895|0.75895	0.3912|0.3912	L|L	0.55481|0.55481	1.735|1.735	0.80722|0.80722	D|D	1|1	.|B;B;B;B;B	.|0.33345	.|0.173;0.173;0.409;0.173;0.356	.|B;B;B;B;B	.|0.35312	.|0.093;0.093;0.2;0.093;0.127	T|T	0.72609|0.72609	-0.4241|-0.4241	5|10	.|0.30078	.|T	.|0.28	-14.061|-14.061	18.3985|18.3985	0.90507|0.90507	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|378;379;481;378;480	.|B4DIZ5;D7UEQ7;Q96HN2;D9N155;Q96HN2-2	.|.;.;SAHH3_HUMAN;.;.	T|Y	388|481;480;400;378;379;378	.|ENSP00000315931:S481Y;ENSP00000413639:S480Y;ENSP00000431787:S400Y;ENSP00000420459:S378Y;ENSP00000405267:S379Y;ENSP00000420801:S378Y	.|ENSP00000315931:S481Y	P|S	+|+	1|2	0|0	AHCYL2|AHCYL2	128840746|128840746	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.488000|7.488000	0.81441|0.81441	2.682000|2.682000	0.91365|0.91365	0.650000|0.650000	0.86243|0.86243	CCA|TCC		0.433	AHCYL2-012	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354065.1			19	109	1	0	5.35047e-06	1	5.80908e-06	19	109				
LAMA2	3908	broad.mit.edu	37	6	129691092	129691092	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr6:129691092A>T	ENST00000421865.2	+	34	4965	c.4916A>T	c.(4915-4917)aAt>aTt	p.N1639I		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1639	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GCAGAGGGCAATCTGAATACA	0.448																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(4915-4917)aAt>aTt		laminin, alpha 2							82.0	84.0	83.0					6																	129691092		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129691092A>T	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.4916A>T	6.37:g.129691092A>T	ENSP00000400365:p.Asn1639Ile						p.N1639I	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	34	4965	+			1639			Domain II and I.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.4916A>T	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.391089	0.82902	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.10288	2.89	5.98	4.81	0.61882	Laminin I (1);	0.202481	0.50627	D	0.000111	T	0.10252	0.0251	L	0.32530	0.975	0.45366	D	0.998355	D;D	0.56746	0.977;0.977	P;P	0.61722	0.893;0.882	T	0.07009	-1.0795	10	0.42905	T	0.14	.	11.6213	0.51119	0.93:0.0:0.07:0.0	.	1639;1639	A6NF00;P24043	.;LAMA2_HUMAN	I	1639	ENSP00000400365:N1639I	ENSP00000346769:N1639I	N	+	2	0	LAMA2	129732785	1.000000	0.71417	0.750000	0.31169	0.871000	0.50021	4.357000	0.59436	1.080000	0.41073	0.533000	0.62120	AAT		0.448	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			3	107	0	0	0	1	0	3	107				
IPP	3652	broad.mit.edu	37	1	46184897	46184898	+	Frame_Shift_Del	DEL	AC	AC	-	rs144663569		TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr1:46184897_46184898delAC	ENST00000396478.3	-	6	1265_1266	c.1163_1164delGT	c.(1162-1164)tgtfs	p.C388fs		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	388						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TAGCCCCATAACACACACACAC	0.347																																						ENST00000396478.3																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20						c.(1162-1164)tfs		intracisternal A particle-promoted polypeptide																																				SO:0001589	frameshift_variant	3652					actin cytoskeleton|cytoplasm	actin binding	g.chr1:46184897_46184898delAC	BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"""Kelch-like"", ""BTB/POZ domain containing"""	6108	protein-coding gene	gene with protein product	"""kelch-like family member 27"""	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.1163_1164delGT	1.37:g.46184907_46184908delAC	ENSP00000379739:p.Cys388fs						p.C388fs	NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN			6	1265_1266	-	Acute lymphoblastic leukemia(166;0.155)		388					A2A6V4|D3DQ11|Q8N5C3	Frame_Shift_Del	DEL	ENST00000396478.3	37	c.1163_1164delGT	CCDS30702.1																																																																																				0.347	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	NM_005897		7	176						7	176	---	---	---	---
RP11-435B5.5	0	broad.mit.edu	37	1	143391922	143391923	+	lincRNA	INS	-	-	AT	rs371334010		TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr1:143391922_143391923insAT	ENST00000428624.1	+	0	2065				RP11-435B5.4_ENST00000423249.1_lincRNA																							ATATTTTGGAGATATATATATA	0.257																																						ENST00000428624.1																			0																																																			0							g.chr1:143391922_143391923insAT																													1.37:g.143391931_143391932dupAT						RP11-435B5.4_ENST00000423249.1_lincRNA								0	2065	+									RNA	INS	ENST00000428624.1	37																																																																																						0.257	RP11-435B5.5-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	lincRNA	OTTHUMT00000037971.1			3	5						3	5	---	---	---	---
RTN4	57142	broad.mit.edu	37	2	55253745	55253746	+	Frame_Shift_Ins	INS	-	-	T			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr2:55253745_55253746insT	ENST00000337526.6	-	3	1732_1733	c.1489_1490insA	c.(1489-1491)atafs	p.I497fs	RTN4_ENST00000405240.1_Frame_Shift_Ins_p.I291fs|RTN4_ENST00000394611.2_Frame_Shift_Ins_p.I291fs|RTN4_ENST00000354474.6_Frame_Shift_Ins_p.I265fs|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357376.3_Frame_Shift_Ins_p.I291fs|RTN4_ENST00000404909.1_Frame_Shift_Ins_p.I291fs|RTN4_ENST00000357732.4_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	497					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						CTTTTCTTCTATTTTTTTTTCA	0.381																																						ENST00000337526.6																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						c.(1489-1491)agafs		reticulon 4																																				SO:0001589	frameshift_variant	57142				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding	g.chr2:55253745_55253746insT	AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.1490dupA	2.37:g.55253754_55253754dupT	ENSP00000337838:p.Ile497fs					RTN4_ENST00000404909.1_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000405240.1_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000394611.2_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000357376.3_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000354474.6_Frame_Shift_Ins_p.R265fs|RTN4_ENST00000317610.7_Intron	p.R497fs	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN			3	1732_1733	-			497					O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Frame_Shift_Ins	INS	ENST00000337526.6	37	c.1489_1490insA	CCDS42684.1																																																																																				0.381	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1			7	73						7	73	---	---	---	---
EOMES	8320	broad.mit.edu	37	3	27763405	27763406	+	In_Frame_Ins	INS	-	-	GCG	rs34467870	byFrequency	TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr3:27763405_27763406insGCG	ENST00000295743.4	-	1	583_584	c.380_381insCGC	c.(379-381)gcg>gcCGCg	p.127_127A>AA	EOMES_ENST00000461503.1_Intron|EOMES_ENST00000449599.1_In_Frame_Ins_p.127_127A>AA|EOMES_ENST00000537516.1_Intron			O95936	EOMES_HUMAN	eomesodermin	127	Ala-rich.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						tggccgcagccgcggcggcggc	0.772														63	0.0125799	0.0446	0.0043	5008	,	,		10468	0.0		0.001	False		,,,				2504	0.0					ENST00000295743.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						c.(379-381)ggc>gCGCgc		eomesodermin																																				SO:0001652	inframe_insertion	8320				CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:27763405_27763406insGCG	BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"""T-boxes"""	3372	protein-coding gene	gene with protein product	"""T-box brain2"""	604615	"""eomesodermin (Xenopus laevis) homolog"""			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.378_380dupCGC	3.37:g.27763412_27763414dupGCG	ENSP00000295743:p.Ala130dup					EOMES_ENST00000449599.1_In_Frame_Ins_p.127_127G>AR|EOMES_ENST00000461503.1_Intron|EOMES_ENST00000537516.1_Intron	p.127_127G>AR			O95936	EOMES_HUMAN			1	583_584	-			127			Ala-rich.		B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	In_Frame_Ins	INS	ENST00000295743.4	37	c.380_381insCGC	CCDS2646.1																																																																																				0.772	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252995.1	NM_005442		2	4						2	4	---	---	---	---
HAVCR2	84868	broad.mit.edu	37	5	156535948	156535950	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr5:156535948_156535950delAGC	ENST00000307851.4	-	1	775_777	c.45_47delGCT	c.(43-48)ctgcta>cta	p.15_16LL>L	CTB-120L21.1_ENST00000517708.1_RNA|HAVCR2_ENST00000517358.1_5'Flank|HAVCR2_ENST00000522593.1_In_Frame_Del_p.15_16LL>L	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	15						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.L18delL(1)|p.L15L(1)		cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGTAAGTAGTAGCAGCAGCAGCA	0.438																																						ENST00000307851.4																			2	Substitution - coding silent(1)|Deletion - In frame(1)	p.L18delL(1)|p.L15L(1)	large_intestine(2)	cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(43-48)cta>ct		hepatitis A virus cellular receptor 2																																				SO:0001651	inframe_deletion	84868					integral to membrane		g.chr5:156535948_156535950delAGC	AK027334	CCDS4333.1	5q34	2014-01-14			ENSG00000135077	ENSG00000135077		"""Immunoglobulin superfamily / V-set domain containing"""	18437	protein-coding gene	gene with protein product	"""T-cell immunoglobulin mucin family member 3"""	606652				11823861	Standard	NM_032782		Approved	Tim-3, TIM3, FLJ14428, TIMD3	uc003lwk.2	Q8TDQ0	OTTHUMG00000130249	ENST00000307851.4:c.45_47delGCT	5.37:g.156535957_156535959delAGC	ENSP00000312002:p.Leu18del					HAVCR2_ENST00000522593.1_In_Frame_Del_p.LL17del|CTB-120L21.1_ENST00000517708.1_RNA	p.LL17del	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	775_777	-	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	17					B2RAY2|Q8WW60|Q96K94	In_Frame_Del	DEL	ENST00000307851.4	37	c.45_47delGCT	CCDS4333.1																																																																																				0.438	HAVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252574.2			7	139						7	139	---	---	---	---
GABRR2	2570	broad.mit.edu	37	6	89975427	89975429	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr6:89975427_89975429delAAG	ENST00000402938.3	-	7	925_927	c.792_794delCTT	c.(790-795)ttcttg>ttg	p.F264del	GABRR2_ENST00000602399.1_In_Frame_Del_p.F289del	NM_002043.3	NP_002034.3	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	264					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	TGTTTGGAGCAAGAAGAAGAAGA	0.517																																						ENST00000402938.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21						c.(790-795)ttg>tt		gamma-aminobutyric acid (GABA) A receptor, rho 2																																				SO:0001651	inframe_deletion	2570				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr6:89975427_89975429delAAG		CCDS5020.2, CCDS5020.3	6q15	2012-06-22	2012-02-03		ENSG00000111886	ENSG00000111886		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4091	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 2"""	137162	"""gamma-aminobutyric acid (GABA) receptor, rho 2"""			1315307	Standard	NM_002043		Approved		uc003pnb.3	P28476	OTTHUMG00000015198	ENST00000402938.3:c.792_794delCTT	6.37:g.89975436_89975438delAAG	ENSP00000386029:p.Phe264del					GABRR2_ENST00000602399.1_In_Frame_Del_p.FL289del	p.FL264del			P28476	GBRR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0158)	7	925_927	-		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)	289					A2BDE4|Q9H153	In_Frame_Del	DEL	ENST00000402938.3	37	c.792_794delCTT	CCDS5020.3																																																																																				0.517	GABRR2-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041482.3			8	120						8	120	---	---	---	---
STAG3L2	442582	broad.mit.edu	37	7	74300557	74300564	+	RNA	DEL	AGAGCTCC	AGAGCTCC	-	rs367732188		TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr7:74300557_74300564delAGAGCTCC	ENST00000423186.1	-	0	573_580							P0CL84	ST3L2_HUMAN	stromal antigen 3-like 2 (pseudogene)							nucleus (GO:0005634)		p.E82fs*32(2)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						CGGCCAGTGAAGAGCTCCAGGCGTGCGG	0.572																																						ENST00000423186.1																			2	Deletion - Frameshift(2)	p.E82fs*32(2)	large_intestine(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5												96,356		38,20,168							0.0			1	208,1036		88,32,502	no	frameshift	STAG3L2	NM_001025202.2		126,52,670	A1A1,A1R,RR		16.7203,21.2389,17.9245				304,1392						0					nucleus	binding	g.chr7:74300557_74300564delAGAGCTCC			7q11.23	2013-06-26	2013-06-26			ENSG00000277072			33886	pseudogene	pseudogene			"""stromal antigen 3-like 2"""				Standard	NR_040584		Approved	MGC131759, STAG3L2P	uc011kfj.2	P0CL84	OTTHUMG00000156216		7.37:g.74300557_74300564delAGAGCTCC										P0CL84	ST3L2_HUMAN			0	573_580	-								A6NMT8|A8K0A1|Q32NE4|Q6NXR2|Q7L5M5|Q7Z5K6	RNA	DEL	ENST00000423186.1	37																																																																																						0.572	STAG3L2-002	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000343523.2	NM_001025202		4	2						4	2	---	---	---	---
FNBP4	23360	broad.mit.edu	37	11	47744589	47744591	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr11:47744589_47744591delGGA	ENST00000263773.5	-	15	2754_2756	c.2742_2744delTCC	c.(2740-2745)cctcca>cca	p.914_915PP>P		NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	914	Pro-rich.					nucleus (GO:0005634)		p.P914P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						tggtggtggtggaggaggaggag	0.458																																						ENST00000263773.5																			1	Substitution - coding silent(1)	p.P914P(1)	endometrium(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						c.(2740-2745)cca>cc		formin binding protein 4				3,75,3660		0,0,3,5,65,1796						-0.3	0.9			14	11,190,7695		0,0,11,2,186,3749	no	codingComplex	FNBP4	NM_015308.2		0,0,14,7,251,5545	A1A1,A1A2,A1R,A2A2,A2R,RR		2.5456,2.0867,2.3981				14,265,11355				SO:0001651	inframe_deletion	23360							g.chr11:47744589_47744591delGGA	BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.2742_2744delTCC	11.37:g.47744598_47744600delGGA	ENSP00000263773:p.Pro918del						p.PP916del	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN			15	2754_2756	-			916			Pro-rich.		Q9H985|Q9NT81|Q9Y2L7	In_Frame_Del	DEL	ENST00000263773.5	37	c.2742_2744delTCC	CCDS41644.1																																																																																				0.458	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3			2	4						2	4	---	---	---	---
DDX10	1662	broad.mit.edu	37	11	108788635	108788637	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr11:108788635_108788637delTGA	ENST00000322536.3	+	17	2469_2471	c.2340_2342delTGA	c.(2338-2343)agtgat>agt	p.D788del	DDX10_ENST00000526794.1_In_Frame_Del_p.D788del	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	788					metabolic process (GO:0008152)		ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TGGATTGGAGtgatgatgatgat	0.355			T	NUP98	AML*																																	ENST00000526794.1				Dom	yes		11	11q22-q23	1662	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10			L	NUP98		AML*		0				breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27						c.(2338-2343)agt>ag		DEAD (Asp-Glu-Ala-Asp) box polypeptide 10				25,260,77,3902		0,2,0,23,4,0,250,5,67,1781						4.9	1.0			85	14,28,155,8057		0,0,0,14,0,0,28,12,131,3942	no	codingComplex	DDX10	NM_004398.2		0,2,0,37,4,0,278,17,198,5723	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		2.3867,8.4897,4.4656				39,288,232,11959				SO:0001651	inframe_deletion	1662						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity	g.chr11:108788635_108788637delTGA	U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105		"""DEAD-boxes"""	2735	protein-coding gene	gene with protein product		601235	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)"""			8660968	Standard	NM_004398		Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000322536.3:c.2340_2342delTGA	11.37:g.108788644_108788646delTGA	ENSP00000314348:p.Asp788del					DDX10_ENST00000322536.3_In_Frame_Del_p.SD780del	p.SD780del			Q13206	DDX10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)	17	2372_2374	+		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)	780					B2RCQ3|Q5BJD8	In_Frame_Del	DEL	ENST00000322536.3	37	c.2340_2342delTGA	CCDS8342.1																																																																																				0.355	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390343.1	NM_004398		7	136						7	136	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25489009	25489010	+	RNA	INS	-	-	TCTGGTC	rs147759541	byFrequency	TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr15:25489009_25489010insTCTGGTC	ENST00000453082.2	+	0	2332				SNORD115-39_ENST00000363694.1_RNA|SNORD115-41_ENST00000363608.1_RNA|SNORD115-40_ENST00000606510.1_RNA	NR_003343.1				small nucleolar RNA host gene 14 (non-protein coding)																		TGGGCTTGGTGTCTGGTCTCTG	0.649														9	0.00179712	0.0068	0.0	5008	,	,		15426	0.0		0.0	False		,,,				2504	0.0					ENST00000453082.2																			0																																																			0							g.chr15:25489009_25489010insTCTGGTC			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25489010_25489016dupTCTGGTC								NR_003343.1						0	2332	+									RNA	INS	ENST00000453082.2	37																																																																																						0.649	SNHG14-003	KNOWN	non_canonical_TEC|basic	antisense	processed_transcript	OTTHUMT00000126730.2			3	3						3	3	---	---	---	---
MED15	51586	broad.mit.edu	37	22	20918916	20918918	+	In_Frame_Del	DEL	CAG	CAG	-	rs374794651		TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr22:20918916_20918918delCAG	ENST00000263205.7	+	6	700_702	c.631_633delCAG	c.(631-633)cagdel	p.Q218del	MED15_ENST00000542773.1_In_Frame_Del_p.Q23del|MED15_ENST00000292733.7_In_Frame_Del_p.Q218del|MED15_ENST00000406969.1_In_Frame_Del_p.Q192del|MED15_ENST00000425759.2_In_Frame_Del_p.Q107del|MED15_ENST00000541476.1_In_Frame_Del_p.Q192del|MED15_ENST00000382974.2_In_Frame_Del_p.Q147del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	218	Poly-Gln.			Missing (in Ref. 4; CAG30423). {ECO:0000305}.	gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			gcagcagctccagcagcagcagc	0.567											OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000263205.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(631-633)del		mediator complex subunit 15																																				SO:0001651	inframe_deletion	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20918916_20918918delCAG	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"""trinucleotide repeat containing 7"", ""PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"""	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.631_633delCAG	22.37:g.20918925_20918927delCAG	ENSP00000263205:p.Gln218del		OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	744	MED15_ENST00000425759.2_In_Frame_Del_p.Q107del|MED15_ENST00000406969.1_In_Frame_Del_p.Q192del|MED15_ENST00000541476.1_In_Frame_Del_p.Q192del|MED15_ENST00000542773.1_In_Frame_Del_p.Q23del|MED15_ENST00000382974.2_In_Frame_Del_p.Q147del|MED15_ENST00000292733.7_In_Frame_Del_p.Q218del	p.Q218del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		6	700_702	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	218	Missing (in Ref. 4; CAG30423).		Poly-Gln.		D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	In_Frame_Del	DEL	ENST00000263205.7	37	c.631_633delCAG	CCDS33602.1																																																																																				0.567	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		8	24						8	24	---	---	---	---
