#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
RBBP4	5928	broad.mit.edu	37	1	33134833	33134833	+	Splice_Site	SNP	T	T	G			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr1:33134833T>G	ENST00000373493.5	+	7	922	c.763T>G	c.(763-765)Tgg>Ggg	p.W255G	RBBP4_ENST00000458695.2_Splice_Site_p.W220G|RBBP4_ENST00000544435.1_Splice_Site_p.W3G|RBBP4_ENST00000373485.1_Splice_Site_p.W255G|RBBP4_ENST00000414241.3_Splice_Site_p.W254G	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4	255					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin assembly (GO:0031497)|chromatin remodeling (GO:0006338)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|nucleosome assembly (GO:0006334)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|NURF complex (GO:0016589)|protein complex (GO:0043234)|Sin3 complex (GO:0016580)	histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				TCACTGAAGTTGGGATACTCG	0.353																																						uc001bvr.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15						c.e7-1		Homo sapiens retinoblastoma binding protein 4 (RBBP4), transcript variant 1, mRNA.							51.0	52.0	52.0					1																	33134833		2203	4300	6503	SO:0001630	splice_region_variant	5928				cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex	histone binding|histone deacetylase binding	g.chr1:33134833T>G	BC053904	CCDS366.1, CCDS44105.1, CCDS44106.1	1p35.1	2014-07-17	2001-11-28		ENSG00000162521	ENSG00000162521		"""WD repeat domain containing"""	9887	protein-coding gene	gene with protein product		602923	"""retinoblastoma-binding protein 4"""			8350924, 14609955, 17531812	Standard	NM_005610		Approved	RbAp48, NURF55, lin-53	uc001bvr.3	Q09028	OTTHUMG00000007998	ENST00000373493.5:c.762-1T>G	1.37:g.33134833T>G						RBBP4_uc001bvs.3_Splice_Site_p.I253_splice|RBBP4_uc010ohj.2_Splice_Site_p.I2_splice|RBBP4_uc010ohk.2_Splice_Site_p.I219_splice	p.I254_splice	NM_005610	NP_001128728	Q09028	RBBP4_HUMAN			7	921	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	254					B2R6G9|B4DRH0|D3DPQ3|P31149|Q53H02|Q96BV9	Missense_Mutation	SNP	ENST00000373493.5	37	c.762_splice	CCDS366.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	19.57|19.57|19.57	3.852922|3.852922|3.852922	0.71719|0.71719|0.71719	.|.|.	.|.|.	ENSG00000162521|ENSG00000162521|ENSG00000162521	ENST00000463378|ENST00000475321|ENST00000414241;ENST00000373493;ENST00000544435;ENST00000373485;ENST00000458695	.|.|D;D;T;D;D	.|.|0.83506	.|.|-1.73;-1.73;-0.75;-1.73;-1.73	5.23|5.23|5.23	5.23|5.23|5.23	0.72850|0.72850|0.72850	.|.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.|.|0.000000	.|.|0.85682	.|.|D	.|.|0.000000	D|D|D	0.95484|0.95484|0.95484	0.8533|0.8533|0.8533	H|H|H	0.99847|0.99847|0.99847	4.84|4.84|4.84	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|D;D	.|.|0.69078	.|.|0.997;0.996	.|.|D;D	.|.|0.81914	.|.|0.992;0.995	D|D|D	0.97514|0.97514|0.97514	1.0068|1.0068|1.0068	5|5|10	.|.|0.87932	.|.|D	.|.|0	.|.|.	14.6046|14.6046|14.6046	0.68469|0.68469|0.68469	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.|.	.|.|254;255	.|.|Q09028-2;Q09028	.|.|.;RBBP4_HUMAN	L|W|G	14|57|254;255;3;255;220	.|.|ENSP00000398242:W254G;ENSP00000362592:W255G;ENSP00000442384:W3G;ENSP00000362584:W255G;ENSP00000396057:W220G	.|.|ENSP00000362584:W255G	F|L|W	+|+|+	3|2|1	2|0|0	RBBP4|RBBP4|RBBP4	32907420|32907420|32907420	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.940000|0.940000|0.940000	0.58332|0.58332|0.58332	8.031000|8.031000|8.031000	0.88826|0.88826|0.88826	2.118000|2.118000|2.118000	0.64928|0.64928|0.64928	0.402000|0.402000|0.402000	0.26972|0.26972|0.26972	TTT|TTG|TGG		0.353	RBBP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021957.3	NM_005610	Missense_Mutation
CYP4A11	1579	broad.mit.edu	37	1	47399686	47399686	+	Missense_Mutation	SNP	G	G	A	rs66477740	byFrequency	TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr1:47399686G>A	ENST00000310638.4	-	9	1185	c.1154C>T	c.(1153-1155)cCg>cTg	p.P385L	CYP4A11_ENST00000462347.1_Missense_Mutation_p.P287L|CYP4A11_ENST00000496519.1_5'UTR|CYP4A11_ENST00000457840.2_3'UTR|CYP4A11_ENST00000371905.1_Missense_Mutation_p.P385L|CYP4A11_ENST00000371904.4_Missense_Mutation_p.P386L	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	385					arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	GCCTGGCACCGGTGGGTAGAG	0.567																																						uc001cqp.4																			0				endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36						c.(1153-1155)cCg>cTg		Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	NADH(DB00157)						102.0	83.0	90.0					1																	47399686		2203	4300	6503	SO:0001583	missense	1579				long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47399686G>A	L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"""Cytochrome P450s"""	2642	protein-coding gene	gene with protein product		601310	"""cytochrome P450, subfamily IVA, polypeptide 11"""	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.1154C>T	1.37:g.47399686G>A	ENSP00000311095:p.Pro385Leu					CYP4A11_uc001cqq.2_Missense_Mutation_p.P385L|CYP4A11_uc010omm.1_Non-coding_Transcript	p.P385L	NM_000778	NP_000769	Q02928	CP4AB_HUMAN			8	1205	-			385					Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Missense_Mutation	SNP	ENST00000310638.4	37	c.1154C>T	CCDS543.1	.	.	.	.	.	.	.	.	.	.	-	34	5.342743	0.95783	.	.	ENSG00000187048	ENST00000310638;ENST00000371904;ENST00000371905	T;T;T	0.72394	-0.65;-0.65;-0.65	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	D	0.84678	0.5525	M	0.87038	2.855	0.80722	D	1	D	0.61697	0.99	P	0.58577	0.841	D	0.87630	0.2515	10	0.87932	D	0	.	19.0056	0.92849	0.0:0.0:1.0:0.0	.	385	Q02928	CP4AB_HUMAN	L	385;386;385	ENSP00000311095:P385L;ENSP00000360971:P386L;ENSP00000360972:P385L	ENSP00000311095:P385L	P	-	2	0	CYP4A11	47172273	1.000000	0.71417	0.524000	0.27887	0.280000	0.26924	7.858000	0.86971	2.567000	0.86603	0.650000	0.86243	CCG		0.567	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022022.1	NM_000778	
LRP8	7804	broad.mit.edu	37	1	53732253	53732253	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr1:53732253C>T	ENST00000306052.6	-	9	1420	c.1319G>A	c.(1318-1320)cGg>cAg	p.R440Q	LRP8_ENST00000465675.1_5'UTR|LRP8_ENST00000371454.2_Missense_Mutation_p.R440Q|RP4-784A16.1_ENST00000432653.1_RNA|LRP8_ENST00000347547.2_Missense_Mutation_p.R270Q|LRP8_ENST00000354412.3_Missense_Mutation_p.R311Q	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	440					ammon gyrus development (GO:0021541)|blood coagulation (GO:0007596)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cytokine-mediated signaling pathway (GO:0019221)|endocytosis (GO:0006897)|layer formation in cerebral cortex (GO:0021819)|lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction, visible light (GO:0007603)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendrite development (GO:1900006)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|proteolysis (GO:0006508)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|regulation of synaptic transmission (GO:0050804)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)	caveola (GO:0005901)|dendrite (GO:0030425)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|high-density lipoprotein particle binding (GO:0008035)|reelin receptor activity (GO:0038025)|transmembrane signaling receptor activity (GO:0004888)|very-low-density lipoprotein particle receptor activity (GO:0030229)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						TGAATAGTTCCGCTTCACCAG	0.537																																						uc001cvi.2																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						c.(1318-1320)cGg>cAg		Homo sapiens low density lipoprotein receptor-related protein 8, apolipoprotein e receptor (LRP8), transcript variant 1, mRNA.							223.0	177.0	193.0					1																	53732253		2203	4300	6503	SO:0001583	missense	7804				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity	g.chr1:53732253C>T	D50678	CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1	1p32.3	2013-05-29			ENSG00000157193	ENSG00000157193		"""Low density lipoprotein receptors"""	6700	protein-coding gene	gene with protein product		602600				8626535, 9079678	Standard	NM_004631		Approved	APOER2, MCI1, LRP-8, HSZ75190	uc001cvi.2	Q14114	OTTHUMG00000008924	ENST00000306052.6:c.1319G>A	1.37:g.53732253C>T	ENSP00000303634:p.Arg440Gln					LRP8_uc001cvh.2_5'UTR|LRP8_uc001cvj.2_Missense_Mutation_p.R440Q|LRP8_uc001cvk.2_Missense_Mutation_p.R270Q|LRP8_uc001cvl.2_Missense_Mutation_p.R311Q|LRP8_uc001cvm.1_Missense_Mutation_p.R25Q	p.R440Q	NM_004631	NP_004622	Q14114	LRP8_HUMAN			8	1556	-			440					B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Missense_Mutation	SNP	ENST00000306052.6	37	c.1319G>A	CCDS578.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.2|20.2	3.952968|3.952968	0.73902|0.73902	.|.	.|.	ENSG00000157193|ENSG00000157193	ENST00000475501|ENST00000306052;ENST00000371454;ENST00000354412;ENST00000347547	.|D;D;D;D	.|0.91011	.|-2.77;-2.77;-2.77;-2.77	4.91|4.91	4.91|4.91	0.64330|0.64330	.|Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	.|.	.|.	.|.	.|.	D|D	0.91520|0.91520	0.7322|0.7322	L|L	0.33245|0.33245	0.995|0.995	0.47374|0.47374	D|D	0.999403|0.999403	.|D;P;D;P	.|0.76494	.|0.999;0.938;0.999;0.651	.|P;B;P;B	.|0.62435	.|0.902;0.358;0.902;0.266	D|D	0.89745|0.89745	0.3936|0.3936	5|9	.|0.27082	.|T	.|0.32	.|.	18.2971|18.2971	0.90150|0.90150	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|311;270;440;440	.|Q14114-2;Q14114-4;Q14114-3;Q14114	.|.;.;.;LRP8_HUMAN	R|Q	129|440;440;311;270	.|ENSP00000303634:R440Q;ENSP00000360509:R440Q;ENSP00000346391:R311Q;ENSP00000334522:R270Q	.|ENSP00000303634:R440Q	G|R	-|-	1|2	0|0	LRP8|LRP8	53504841|53504841	0.977000|0.977000	0.34250|0.34250	1.000000|1.000000	0.80357|0.80357	0.438000|0.438000	0.31896|0.31896	2.477000|2.477000	0.45180|0.45180	2.550000|2.550000	0.86006|0.86006	0.462000|0.462000	0.41574|0.41574	GGA|CGG		0.537	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024699.1	NM_004631	
FLG	2312	broad.mit.edu	37	1	152285273	152285273	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr1:152285273G>T	ENST00000368799.1	-	3	2124	c.2089C>A	c.(2089-2091)Cat>Aat	p.H697N	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	697	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCTGTTCATGGGATGACGCA	0.557									Ichthyosis																													uc001ezu.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(2089-2091)Cat>Aat		Homo sapiens filaggrin (FLG), mRNA.							392.0	392.0	392.0					1																	152285273		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152285273G>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2089C>A	1.37:g.152285273G>T	ENSP00000357789:p.His697Asn					AK056431_uc001ezv.3_5'Flank	p.H697N	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	2125	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		697			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.2089C>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	2.967	-0.213302	0.06140	.	.	ENSG00000143631	ENST00000368799	T	0.00659	5.94	2.06	1.11	0.20524	.	.	.	.	.	T	0.00271	0.0008	L	0.47716	1.5	0.09310	N	1	B	0.25048	0.117	B	0.12837	0.008	T	0.40384	-0.9566	9	0.17832	T	0.49	.	3.9122	0.09209	0.2222:0.0:0.7778:0.0	.	697	P20930	FILA_HUMAN	N	697	ENSP00000357789:H697N	ENSP00000357789:H697N	H	-	1	0	FLG	150551897	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.286000	0.18902	1.179000	0.42884	0.586000	0.80456	CAT		0.557	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
LCE1F	353137	broad.mit.edu	37	1	152748961	152748961	+	Silent	SNP	T	T	C			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr1:152748961T>C	ENST00000334371.2	+	1	114	c.114T>C	c.(112-114)ccT>ccC	p.P38P		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	38	Pro-rich.				keratinization (GO:0031424)					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ctaagtgccctccTGTCTCTT	0.672																																						uc010pdv.2																			0				kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(112-114)ccT>ccC		Homo sapiens late cornified envelope 1F (LCE1F), mRNA.							58.0	60.0	59.0					1																	152748961		2203	4300	6503	SO:0001819	synonymous_variant	353137				keratinization			g.chr1:152748961T>C		CCDS1023.1	1q21.3	2008-02-05			ENSG00000240386	ENSG00000240386		"""Late cornified envelopes"""	29467	protein-coding gene	gene with protein product		612608				11698679	Standard	NM_178354		Approved	LEP6	uc010pdv.2	Q5T754	OTTHUMG00000012403	ENST00000334371.2:c.114T>C	1.37:g.152748961T>C							p.P38P	NM_178354	NP_848131	Q5T754	LCE1F_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		0	114	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		38			Pro-rich.			Silent	SNP	ENST00000334371.2	37	c.114T>C	CCDS1023.1																																																																																				0.672	LCE1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034523.2	NM_178354	
RRNAD1	51093	broad.mit.edu	37	1	156702252	156702252	+	Missense_Mutation	SNP	G	G	A	rs369382121		TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr1:156702252G>A	ENST00000368216.4	+	3	1046	c.416G>A	c.(415-417)cGg>cAg	p.R139Q	RRNAD1_ENST00000368218.4_Missense_Mutation_p.R139Q|RRNAD1_ENST00000524343.1_3'UTR|RRNAD1_ENST00000476229.1_Missense_Mutation_p.R37Q	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN	ribosomal RNA adenine dimethylase domain containing 1	139						integral component of membrane (GO:0016021)	rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						CATGAGATCCGGAGGCTGGGA	0.562																																						uc001fpu.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						c.(415-417)cGg>cAg		Homo sapiens ribosomal RNA adenine dimethylase domain containing 1 (RRNAD1), transcript variant 1, mRNA.		G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	33.0	32.0	32.0		416,416	5.0	1.0	1		32	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RRNAD1	NM_001142560.1,NM_015997.3	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	139/278,139/476	156702252	1,13005	2203	4300	6503	SO:0001583	missense	51093					integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity	g.chr1:156702252G>A	BC011382	CCDS1154.1, CCDS44246.1	1q23.1	2011-01-28	2011-01-28	2011-01-28	ENSG00000143303	ENSG00000143303			24273	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 66"""	C1orf66		10810093, 310876	Standard	NM_015997		Approved	CGI-41	uc001fpu.3	Q96FB5	OTTHUMG00000041302	ENST00000368216.4:c.416G>A	1.37:g.156702252G>A	ENSP00000357199:p.Arg139Gln					RRNAD1_uc001fpv.3_Missense_Mutation_p.R139Q	p.R139Q	NM_015997	NP_057081	Q96FB5	RRNAD_HUMAN			2	1050	+			139					D3DVC7|Q4VX71|Q5SZ03|Q9Y358	Missense_Mutation	SNP	ENST00000368216.4	37	c.416G>A	CCDS1154.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.11|18.11	3.549894|3.549894	0.65311|0.65311	0.0|0.0	1.16E-4|1.16E-4	ENSG00000143303|ENSG00000143303	ENST00000522237|ENST00000368218;ENST00000368216;ENST00000519086;ENST00000484742;ENST00000476229	.|T;T;T	.|0.40476	.|1.03;1.03;1.03	4.96|4.96	4.96|4.96	0.65561|0.65561	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.16811|0.16811	0.0404|0.0404	L|L	0.27053|0.27053	0.805|0.805	0.51233|0.51233	D|D	0.999918|0.999918	.|P;P	.|0.42456	.|0.78;0.532	.|B;B	.|0.36378	.|0.223;0.151	T|T	0.03139|0.03139	-1.1068|-1.1068	5|10	.|0.19590	.|T	.|0.45	-27.1053|-27.1053	16.9248|16.9248	0.86173|0.86173	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|139;139	.|Q4VX71;Q96FB5	.|.;RRNAD_HUMAN	R|Q	26|139;139;139;37;37	.|ENSP00000357201:R139Q;ENSP00000357199:R139Q;ENSP00000429053:R37Q	.|ENSP00000357199:R139Q	G|R	+|+	1|2	0|0	RRNAD1|RRNAD1	154968876|154968876	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.839000|5.839000	0.69395|0.69395	2.586000|2.586000	0.87340|0.87340	0.561000|0.561000	0.74099|0.74099	GGA|CGG		0.562	RRNAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098973.1	NM_015997	
KIRREL	55243	broad.mit.edu	37	1	158063228	158063228	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr1:158063228G>A	ENST00000359209.6	+	12	1638	c.1571G>A	c.(1570-1572)cGc>cAc	p.R524H	KIRREL_ENST00000416935.2_Missense_Mutation_p.R424H|KIRREL_ENST00000360089.4_Missense_Mutation_p.R360H|KIRREL_ENST00000368172.1_Missense_Mutation_p.R338H|KIRREL_ENST00000368173.3_Missense_Mutation_p.R540H|KIRREL_ENST00000392272.2_Missense_Mutation_p.R421H			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	524					excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					TACCGGCGCCGCAAAGGCAGT	0.607																																						uc001frn.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38						c.(1570-1572)cGc>cAc		Homo sapiens kin of IRRE like (Drosophila) (KIRREL), mRNA.							113.0	111.0	112.0					1																	158063228		2203	4300	6503	SO:0001583	missense	55243					integral to membrane		g.chr1:158063228G>A	AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15734	protein-coding gene	gene with protein product	"""nephrin-like protein 1"""	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.1571G>A	1.37:g.158063228G>A	ENSP00000352138:p.Arg524His					KIRREL_uc010pib.2_Missense_Mutation_p.R424H|KIRREL_uc009wsq.3_Missense_Mutation_p.R360H|KIRREL_uc001fro.4_Missense_Mutation_p.R338H	p.R524H	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN			11	1975	+	all_hematologic(112;0.0378)		524					Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Missense_Mutation	SNP	ENST00000359209.6	37	c.1571G>A	CCDS1172.2	.	.	.	.	.	.	.	.	.	.	G	24.6	4.549450	0.86127	.	.	ENSG00000183853	ENST00000360089;ENST00000368173;ENST00000392272;ENST00000359209;ENST00000416935;ENST00000368172	T;T;T;T;T;T	0.71698	0.36;-0.59;0.02;-0.23;-0.12;0.22	5.61	4.67	0.58626	.	0.000000	0.43260	D	0.000589	T	0.71333	0.3327	L	0.40543	1.245	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.964;0.998;0.996;0.996	T	0.74999	-0.3472	10	0.52906	T	0.07	-22.3545	14.06	0.64793	0.0:0.1523:0.8477:0.0	.	424;360;338;524	B4DN67;Q5W0F9;Q5W0G0;Q96J84	.;.;.;KIRR1_HUMAN	H	360;540;421;524;424;338	ENSP00000353202:R360H;ENSP00000357155:R540H;ENSP00000376098:R421H;ENSP00000352138:R524H;ENSP00000389674:R424H;ENSP00000357154:R338H	ENSP00000352138:R524H	R	+	2	0	KIRREL	156329852	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.163000	0.94750	1.303000	0.44873	0.491000	0.48974	CGC		0.607	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	NM_018240	
USH2A	7399	broad.mit.edu	37	1	215814045	215814045	+	Silent	SNP	G	G	A			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr1:215814045G>A	ENST00000307340.3	-	68	15209	c.14823C>T	c.(14821-14823)gaC>gaT	p.D4941D	USH2A_ENST00000366943.2_Silent_p.D4941D	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4941					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACAAATTGCTGTCCACCGAAA	0.507										HNSCC(13;0.011)																												uc001hku.1																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(14821-14823)gaC>gaT		Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.							117.0	100.0	106.0					1																	215814045		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215814045G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.14823C>T	1.37:g.215814045G>A		HNSCC(13;0.011)					p.D4941D	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	67	15210	-			4941			Fibronectin type-III 35.		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.14823C>T	CCDS31025.1																																																																																				0.507	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
LYST	1130	broad.mit.edu	37	1	235969724	235969724	+	Silent	SNP	C	C	T	rs545149427		TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr1:235969724C>T	ENST00000389794.3	-	6	2886	c.2712G>A	c.(2710-2712)gtG>gtA	p.V904V	LYST_ENST00000536965.1_Silent_p.V904V|LYST_ENST00000389793.2_Silent_p.V904V			Q99698	LYST_HUMAN	lysosomal trafficking regulator	904					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			ATAAAAAAGCCACACAGAGGA	0.428																																						uc001hxj.2																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(2710-2712)gtG>gtA		Homo sapiens lysosomal trafficking regulator (LYST), mRNA.							66.0	66.0	66.0					1																	235969724		2203	4300	6503	SO:0001819	synonymous_variant	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235969724C>T	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.2712G>A	1.37:g.235969724C>T						LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript|LYST_uc001hxl.1_Silent_p.V904V	p.V904V	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		5	2887	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	904					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	ENST00000389794.3	37	c.2712G>A	CCDS31062.1																																																																																				0.428	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5		
RTKN2	219790	broad.mit.edu	37	10	63957964	63957964	+	Silent	SNP	T	T	C			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr10:63957964T>C	ENST00000373789.3	-	12	1629	c.1533A>G	c.(1531-1533)aaA>aaG	p.K511K	RTKN2_ENST00000395265.1_Intron|RTKN2_ENST00000315289.2_Intron	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	511					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					TGAATGGAAGTTTATCAGAAG	0.398																																						uc001jlw.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1531-1533)aaA>aaG		Homo sapiens rhotekin 2 (RTKN2), mRNA.							224.0	223.0	224.0					10																	63957964		2203	4300	6503	SO:0001819	synonymous_variant	219790				signal transduction	intracellular		g.chr10:63957964T>C	BC025765	CCDS7263.1, CCDS73140.1	10q21.3	2013-01-10	2007-12-14	2007-12-14	ENSG00000182010	ENSG00000182010		"""Pleckstrin homology (PH) domain containing"""	19364	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family K member 1"""	PLEKHK1		15504364	Standard	NM_001282941		Approved	Em:AC024597.2, bA531F24.1, FLJ39352	uc001jlw.3	Q8IZC4	OTTHUMG00000018299	ENST00000373789.3:c.1533A>G	10.37:g.63957964T>C						RTKN2_uc009xpf.1_Intron|RTKN2_uc001jlv.3_Silent_p.K165K	p.K511K	NM_145307	NP_660350	Q8IZC4	RTKN2_HUMAN			11	1630	-	Prostate(12;0.0297)|all_hematologic(501;0.215)		511					Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Silent	SNP	ENST00000373789.3	37	c.1533A>G	CCDS7263.1																																																																																				0.398	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091618.1	NM_145307	
PTEN	5728	broad.mit.edu	37	10	89720827	89720831	+	Frame_Shift_Del	DEL	CAAAG	CAAAG	-			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr10:89720827_89720831delCAAAG	ENST00000371953.3	+	8	2335_2339	c.978_982delCAAAG	c.(976-984)gacaaagcafs	p.KA327fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	327	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.D326fs*4(1)|p.W274_F341del(1)|p.A328fs*1(1)|p.D326_K342del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ATGATCTTGACAAAGCAAATAAAGA	0.337		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		54	Whole gene deletion(37)|Deletion - Frameshift(10)|Deletion - In frame(4)|Unknown(2)|Insertion - Frameshift(1)	p.0?(37)|p.R55fs*1(5)|p.T319_K332del(2)|p.?(2)|p.D326G(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.D326fs*4(2)|p.W274_F341del(2)|p.A328fs*1(2)|p.D326_K342del(2)|p.G165_*404del(1)|p.G165_K342del(1)|p.A328fs*15(1)|p.L325H(1)|p.L325V(1)|p.L325P(1)|p.L325R(1)	prostate(16)|central_nervous_system(13)|skin(6)|lung(4)|ovary(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|endometrium(2)|urinary_tract(2)|soft_tissue(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CD982917	PTEN	D		c.(976-984)gacaaagcafs		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.																																				SO:0001589	frameshift_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89720827_89720831delCAAAG	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.978_982delCAAAG	10.37:g.89720827_89720831delCAAAG	ENSP00000361021:p.Lys327fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.D326fs	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	7	2010_2014	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	326			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	37	c.978_982delCAAAG	CCDS31238.1																																																																																				0.337	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
OR10A3	26496	broad.mit.edu	37	11	7960190	7960190	+	Missense_Mutation	SNP	C	C	T	rs146552050		TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr11:7960190C>T	ENST00000360759.3	-	1	951	c.878G>A	c.(877-879)cGa>cAa	p.R293Q		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	293					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTCACTGTTTCGTAAGCTATA	0.418													C|||	1	0.000199681	0.0	0.0	5008	,	,		20080	0.001		0.0	False		,,,				2504	0.0					uc010rbi.2																			0				endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21						c.(877-879)cGa>cAa		Homo sapiens olfactory receptor, family 10, subfamily A, member 3 (OR10A3), mRNA.		C	GLN/ARG	1,4401	2.1+/-5.4	0,1,2200	147.0	136.0	140.0		878	3.7	0.9	11	dbSNP_134	140	1,8591	1.2+/-3.3	0,1,4295	yes	missense	OR10A3	NM_001003745.1	43	0,2,6495	TT,TC,CC		0.0116,0.0227,0.0154	benign	293/315	7960190	2,12992	2201	4296	6497	SO:0001583	missense	26496				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7960190C>T	BK004404	CCDS31421.1	11p15.4	2012-08-09			ENSG00000170683	ENSG00000170683		"""GPCR / Class A : Olfactory receptors"""	8162	protein-coding gene	gene with protein product						1370859	Standard	NM_001003745		Approved	HTPCRX12, HSHTPCRX12	uc010rbi.2	P58181	OTTHUMG00000165672	ENST00000360759.3:c.878G>A	11.37:g.7960190C>T	ENSP00000353988:p.Arg293Gln						p.R293Q	NM_001003745	NP_001003745	P58181	O10A3_HUMAN		Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	0	878	-			293					B9EH39|Q6IF58|Q96R11	Missense_Mutation	SNP	ENST00000360759.3	37	c.878G>A	CCDS31421.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	5.744	0.321669	0.10845	2.27E-4	1.16E-4	ENSG00000170683	ENST00000360759	T	0.41065	1.01	4.65	3.73	0.42828	.	0.000000	0.34531	U	0.003899	T	0.38931	0.1059	M	0.71036	2.16	0.09310	N	1	B	0.32396	0.369	B	0.23419	0.046	T	0.38436	-0.9661	10	0.87932	D	0	.	10.129	0.42667	0.0:0.8234:0.0:0.1766	.	293	P58181	O10A3_HUMAN	Q	293	ENSP00000353988:R293Q	ENSP00000353988:R293Q	R	-	2	0	OR10A3	7916766	0.015000	0.18098	0.861000	0.33841	0.007000	0.05969	1.770000	0.38532	0.702000	0.31825	-1.128000	0.01989	CGA		0.418	OR10A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385704.1	NM_001003745	
TRIM51	84767	broad.mit.edu	37	11	55653196	55653197	+	Missense_Mutation	DNP	GA	GA	TC	rs528409876	byFrequency	TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr11:55653196_55653197GA>TC	ENST00000449290.2	+	2	384_385	c.292_293GA>TC	c.(292-294)GAg>TCg	p.E98S	TRIM51_ENST00000244891.3_5'Flank	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	98						intracellular (GO:0005622)	zinc ion binding (GO:0008270)										GATGCACAGAGAGACAAAGAAG	0.485																																						uc010rip.2																			0											c.(292-294)gag>TCg		Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA.																																				SO:0001583	missense	84767					intracellular	zinc ion binding	g.chr11:55653196_55653197GA>TC	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	Exception_encountered	11.37:g.55653196_55653197delinsTC	ENSP00000395086:p.Glu98Ser					TRIM51_uc010riq.2_5'Flank	p.E98S	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN			1	384_385	+			98					A6NMG2	Missense_Mutation	DNP	ENST00000449290.2	37	c.292_293GA>TC																																																																																					0.485	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681	
TRIM51	84767	broad.mit.edu	37	11	55658647	55658647	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr11:55658647A>T	ENST00000449290.2	+	7	990	c.898A>T	c.(898-900)Atc>Ttc	p.I300F	TRIM51_ENST00000244891.3_Missense_Mutation_p.I157F	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	300	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)										CAATAGTCATATCTTCCTGTG	0.348																																						uc010rip.2																			0											c.(898-900)Atc>Ttc		Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA.							73.0	79.0	77.0					11																	55658647		2055	3910	5965	SO:0001583	missense	84767					intracellular	zinc ion binding	g.chr11:55658647A>T	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.898A>T	11.37:g.55658647A>T	ENSP00000395086:p.Ile300Phe					TRIM51_uc010riq.2_Missense_Mutation_p.I157F	p.I300F	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN			6	990	+			300			B30.2/SPRY.		A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37	c.898A>T		.	.	.	.	.	.	.	.	.	.	.	14.87	2.663638	0.47572	.	.	ENSG00000124900	ENST00000449290;ENST00000244891	T;T	0.08720	3.06;3.06	0.892	-1.78	0.07957	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.14743	0.0356	M	0.66439	2.03	0.26851	N	0.968155	D	0.56287	0.975	P	0.55667	0.781	T	0.17258	-1.0375	9	0.72032	D	0.01	.	2.8881	0.05668	0.5082:0.4918:0.0:0.0	.	300	Q9BSJ1	SPRY5_HUMAN	F	300;157	ENSP00000395086:I300F;ENSP00000244891:I157F	ENSP00000244891:I157F	I	+	1	0	SPRYD5	55415223	0.427000	0.25514	0.375000	0.26029	0.439000	0.31926	0.814000	0.27239	0.138000	0.18790	0.136000	0.15936	ATC		0.348	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681	
TRIM51	84767	broad.mit.edu	37	11	55658914	55658914	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr11:55658914T>A	ENST00000449290.2	+	7	1257	c.1165T>A	c.(1165-1167)Tgc>Agc	p.C389S	TRIM51_ENST00000244891.3_Missense_Mutation_p.C246S	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	389	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)										GGACACTCACTGCAGTCTCTT	0.448																																						uc010rip.2																			0											c.(1165-1167)Tgc>Agc		Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA.							31.0	31.0	31.0					11																	55658914		2121	4088	6209	SO:0001583	missense	84767					intracellular	zinc ion binding	g.chr11:55658914T>A	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.1165T>A	11.37:g.55658914T>A	ENSP00000395086:p.Cys389Ser					TRIM51_uc010riq.2_Missense_Mutation_p.C246S	p.C389S	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN			6	1257	+			389			B30.2/SPRY.		A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37	c.1165T>A		.	.	.	.	.	.	.	.	.	.	.	3.105	-0.183940	0.06340	.	.	ENSG00000124900	ENST00000449290;ENST00000244891	T;T	0.60548	0.18;0.18	1.36	0.144	0.14824	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.41096	0.1144	L	0.40543	1.245	0.09310	N	1	B	0.09022	0.002	B	0.21546	0.035	T	0.25813	-1.0121	9	0.23302	T	0.38	.	2.7303	0.05225	0.0:0.3422:0.0:0.6578	.	389	Q9BSJ1	SPRY5_HUMAN	S	389;246	ENSP00000395086:C389S;ENSP00000244891:C246S	ENSP00000244891:C246S	C	+	1	0	SPRYD5	55415490	0.537000	0.26386	0.003000	0.11579	0.209000	0.24338	1.619000	0.36965	0.540000	0.28808	0.136000	0.15936	TGC		0.448	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681	
OR8J3	81168	broad.mit.edu	37	11	55904831	55904831	+	Missense_Mutation	SNP	G	G	A	rs201535279	byFrequency	TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr11:55904831G>A	ENST00000301529.1	-	1	363	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					GCCACATAGCGGTCATAGGCC	0.502													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17501	0.0		0.0	False		,,,				2504	0.0					uc010riz.2																			0		p.D121Y(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59						c.(364-366)Cgc>Tgc		Homo sapiens olfactory receptor, family 8, subfamily J, member 3 (OR8J3), mRNA.		G	CYS/ARG	3,4399	6.2+/-15.9	0,3,2198	151.0	138.0	142.0		364	3.3	1.0	11		142	0,8592		0,0,4296	no	missense	OR8J3	NM_001004064.1	180	0,3,6494	AA,AG,GG		0.0,0.0682,0.0231	probably-damaging	122/316	55904831	3,12991	2201	4296	6497	SO:0001583	missense	81168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55904831G>A		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"""GPCR / Class A : Olfactory receptors"""	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.364C>T	11.37:g.55904831G>A	ENSP00000301529:p.Arg122Cys						p.R122C	NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN			0	364	-	Esophageal squamous(21;0.00693)		122					Q6IFB6|Q96RC2	Missense_Mutation	SNP	ENST00000301529.1	37	c.364C>T	CCDS31520.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	18.04	3.534519	0.64972	6.82E-4	0.0	ENSG00000167822	ENST00000301529	T	0.77358	-1.09	3.26	3.26	0.37387	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000007	D	0.83431	0.5253	M	0.76433	2.335	0.38528	D	0.948897	D	0.62365	0.991	P	0.58970	0.849	D	0.85834	0.1393	10	0.66056	D	0.02	.	9.9828	0.41824	0.0:0.0:0.797:0.203	.	122	Q8NGG0	OR8J3_HUMAN	C	122	ENSP00000301529:R122C	ENSP00000301529:R122C	R	-	1	0	OR8J3	55661407	1.000000	0.71417	0.981000	0.43875	0.828000	0.46876	2.411000	0.44600	1.548000	0.49413	0.289000	0.19496	CGC		0.502	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064	
OR5A1	219982	broad.mit.edu	37	11	59210873	59210873	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr11:59210873T>C	ENST00000302030.2	+	1	257	c.232T>C	c.(232-234)Tct>Cct	p.S78P		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	78						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						CTGCTACTCTTCTGCTGTGGC	0.468																																						uc001nnx.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						c.(232-234)Tct>Cct		Homo sapiens olfactory receptor, family 5, subfamily A, member 1 (OR5A1), mRNA.							135.0	131.0	132.0					11																	59210873		2201	4295	6496	SO:0001583	missense	219982				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59210873T>C	AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"""GPCR / Class A : Olfactory receptors"""	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.232T>C	11.37:g.59210873T>C	ENSP00000303096:p.Ser78Pro						p.S78P	NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN			0	232	+			78					B9EH58|Q6IFF2|Q96RB1	Missense_Mutation	SNP	ENST00000302030.2	37	c.232T>C	CCDS31561.1	.	.	.	.	.	.	.	.	.	.	T	19.49	3.837547	0.71373	.	.	ENSG00000172320	ENST00000302030	T	0.00408	7.54	5.76	5.76	0.90799	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000067	T	0.01730	0.0055	M	0.91717	3.235	0.46749	D	0.999181	D	0.89917	1.0	D	0.91635	0.999	T	0.46748	-0.9169	10	0.87932	D	0	-43.0024	14.9145	0.70785	0.0:0.0:0.0:1.0	.	78	Q8NGJ0	OR5A1_HUMAN	P	78	ENSP00000303096:S78P	ENSP00000303096:S78P	S	+	1	0	OR5A1	58967449	0.016000	0.18221	0.896000	0.35187	0.926000	0.56050	0.166000	0.16583	2.195000	0.70347	0.528000	0.53228	TCT		0.468	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728	
CDC42BPG	55561	broad.mit.edu	37	11	64607007	64607007	+	Silent	SNP	G	G	A	rs141134240		TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr11:64607007G>A	ENST00000342711.5	-	6	617	c.618C>T	c.(616-618)aaC>aaT	p.N206N		NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						GAATGTGCCCGTTCACATCCA	0.607													G|||	1	0.000199681	0.0008	0.0	5008	,	,		24069	0.0		0.0	False		,,,				2504	0.0					uc001obs.4																			0				central_nervous_system(1)|lung(3)	4						c.(616-618)aaC>aaT		Homo sapiens CDC42 binding protein kinase gamma (DMPK-like) (CDC42BPG), mRNA.		G		6,4392	11.4+/-27.6	0,6,2193	133.0	87.0	103.0		618	-7.3	0.9	11	dbSNP_134	103	0,8592		0,0,4296	no	coding-synonymous	CDC42BPG	NM_017525.2		0,6,6489	AA,AG,GG		0.0,0.1364,0.0462		206/1552	64607007	6,12984	2199	4296	6495	SO:0001819	synonymous_variant	55561				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64607007G>A	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.618C>T	11.37:g.64607007G>A							p.N206N	NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN			5	618	-			206			Protein kinase.			Silent	SNP	ENST00000342711.5	37	c.618C>T	CCDS31601.1																																																																																				0.607	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516	
UVRAG	7405	broad.mit.edu	37	11	75718654	75718654	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr11:75718654C>G	ENST00000356136.3	+	10	1229	c.988C>G	c.(988-990)Cct>Gct	p.P330A	UVRAG_ENST00000532130.1_5'UTR|UVRAG_ENST00000528420.1_Missense_Mutation_p.P229A|UVRAG_ENST00000539288.1_5'UTR|UVRAG_ENST00000533454.1_5'UTR|UVRAG_ENST00000531818.1_5'UTR	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	330					DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						CTACATTTACCCTATTGATTT	0.318																																						uc001oxc.3																			0				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						c.(988-990)Cct>Gct		Homo sapiens UV radiation resistance associated gene (UVRAG), mRNA.							105.0	102.0	103.0					11																	75718654		2199	4292	6491	SO:0001583	missense	7405				DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding	g.chr11:75718654C>G	X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"""beclin 1 binding protein"""	602493	"""UV radiation resistance associated gene"""			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.988C>G	11.37:g.75718654C>G	ENSP00000348455:p.Pro330Ala					UVRAG_uc010rrw.2_Missense_Mutation_p.P229A|UVRAG_uc001oxd.3_5'UTR|UVRAG_uc010rrx.2_5'UTR|UVRAG_uc009yuh.1_Non-coding_Transcript	p.P330A	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN			9	1229	+			330					B3KTC1|O00392	Missense_Mutation	SNP	ENST00000356136.3	37	c.988C>G	CCDS8241.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.592551	0.86953	.	.	ENSG00000198382	ENST00000356136;ENST00000528420	T;T	0.34667	1.35;1.35	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.68155	0.2970	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72564	-0.4255	10	0.72032	D	0.01	-16.4854	18.8715	0.92317	0.0:1.0:0.0:0.0	.	330	Q9P2Y5	UVRAG_HUMAN	A	330;229	ENSP00000348455:P330A;ENSP00000436039:P229A	ENSP00000348455:P330A	P	+	1	0	UVRAG	75396302	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.363000	0.66104	2.937000	0.99478	0.650000	0.86243	CCT		0.318	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383430.1	NM_003369	
SMAGP	57228	broad.mit.edu	37	12	51663060	51663060	+	Start_Codon_SNP	SNP	C	C	G			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr12:51663060C>G	ENST00000603798.1	-	2	675	c.3G>C	c.(1-3)atG>atC	p.M1I	SMAGP_ENST00000605627.1_5'UTR|SMAGP_ENST00000603838.1_Start_Codon_SNP_p.M1I|SMAGP_ENST00000398453.3_Start_Codon_SNP_p.M1I|DAZAP2_ENST00000604900.1_Intron|SMAGP_ENST00000603864.1_Start_Codon_SNP_p.M1I|SMAGP_ENST00000604188.1_Start_Codon_SNP_p.M1I	NM_001031628.1	NP_001026798.1	Q0VAQ4	SMAGP_HUMAN	small cell adhesion glycoprotein	1						cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)											GGAGGCTGGTCATTGTCACTA	0.512																																						uc001ryd.1																			0											c.(1-3)atG>atC		Homo sapiens small cell adhesion glycoprotein (SMAGP), transcript variant 2, mRNA.							127.0	130.0	129.0					12																	51663060		1944	4149	6093	SO:0001582	initiator_codon_variant	57228					cytoplasmic vesicle membrane|integral to membrane|plasma membrane		g.chr12:51663060C>G		CCDS44889.1	12q13.13	2010-02-17			ENSG00000170545	ENSG00000170545			26918	protein-coding gene	gene with protein product	"""small trans-membrane and glycosylated protein"""					15021913	Standard	NM_001031628		Approved	MGC149453, MGC149454, hSMAGP	uc001rye.1	Q0VAQ4		ENST00000603798.1:c.3G>C	12.37:g.51663060C>G	ENSP00000475068:p.Met1Ile					SMAGP_uc001rye.1_Missense_Mutation_p.M1I|SMAGP_uc001ryf.1_Non-coding_Transcript	p.M1I	NM_001033873	NP_001029045	Q0VAQ4	SMAGP_HUMAN			1	193	-			1					A6NIL5	Missense_Mutation	SNP	ENST00000603798.1	37	c.3G>C	CCDS44889.1	.	.	.	.	.	.	.	.	.	.	C	9.941	1.217475	0.22373	.	.	ENSG00000170545	ENST00000380103;ENST00000398453	T	0.41758	0.99	4.38	4.38	0.52667	.	0.000000	0.39475	U	0.001354	T	0.58552	0.2130	.	.	.	0.28999	N	0.887564	P	0.48294	0.908	P	0.61397	0.888	T	0.55958	-0.8058	9	0.87932	D	0	-0.1521	12.7448	0.57276	0.0:1.0:0.0:0.0	.	1	Q0VAQ4	SMAGP_HUMAN	I	1	ENSP00000381471:M1I	ENSP00000369446:M1I	M	-	3	0	SMAGP	49949327	0.973000	0.33851	0.590000	0.28732	0.103000	0.19146	2.872000	0.48467	2.717000	0.92951	0.655000	0.94253	ATG		0.512	SMAGP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469789.1	NM_020467	Missense_Mutation
RNF17	56163	broad.mit.edu	37	13	25367336	25367336	+	Silent	SNP	T	T	C			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr13:25367336T>C	ENST00000255324.5	+	10	1144	c.1092T>C	c.(1090-1092)ccT>ccC	p.P364P	RNF17_ENST00000381921.1_Silent_p.P364P|RNF17_ENST00000255325.6_Silent_p.P364P|RNF17_ENST00000255326.4_3'UTR	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	364					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CTTTGCAACCTGAGACAAATG	0.428																																						uc001upr.3																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36						c.(1090-1092)ccT>ccC		Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.							176.0	164.0	168.0					13																	25367336		2203	4300	6503	SO:0001819	synonymous_variant	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25367336T>C	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.1092T>C	13.37:g.25367336T>C						RNF17_uc010tdd.1_Silent_p.P223P|RNF17_uc010tde.2_Silent_p.P364P|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Silent_p.P303P|RNF17_uc001upq.1_Silent_p.P364P	p.P364P	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	9	1133	+		Lung SC(185;0.0225)|Breast(139;0.077)	364					Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Silent	SNP	ENST00000255324.5	37	c.1092T>C	CCDS9308.2																																																																																				0.428	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994	
TRPC4	7223	broad.mit.edu	37	13	38237609	38237609	+	Silent	SNP	C	C	T	rs540496931		TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr13:38237609C>T	ENST00000379705.3	-	6	2489	c.1632G>A	c.(1630-1632)acG>acA	p.T544T	TRPC4_ENST00000379673.2_Silent_p.T544T|TRPC4_ENST00000358477.2_Silent_p.T544T|TRPC4_ENST00000494529.1_5'UTR|TRPC4_ENST00000379679.1_Silent_p.T371T|TRPC4_ENST00000447043.1_Silent_p.T544T|TRPC4_ENST00000379681.3_Silent_p.T544T|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000355779.2_Silent_p.T544T|TRPC4_ENST00000338947.5_Silent_p.T371T			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	544					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TTAACCCTTTCGTTTCTTCAT	0.348													C|||	1	0.000199681	0.0	0.0	5008	,	,		19333	0.0		0.0	False		,,,				2504	0.001					uc010abx.3																			0				NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83						c.(1630-1632)acG>acA		Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.							78.0	75.0	76.0					13																	38237609		2203	4300	6503	SO:0001819	synonymous_variant	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38237609C>T	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.1632G>A	13.37:g.38237609C>T						TRPC4_uc010abv.3_Silent_p.T124T|TRPC4_uc001uwt.3_Silent_p.T544T|TRPC4_uc001uws.3_Silent_p.T544T|TRPC4_uc010tey.2_Silent_p.T544T|TRPC4_uc010abw.3_Silent_p.T371T|TRPC4_uc010aby.3_Silent_p.T544T	p.T544T	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	5	1867	-			544					B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Silent	SNP	ENST00000379705.3	37	c.1632G>A	CCDS9365.1																																																																																				0.348	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306	
COL4A1	1282	broad.mit.edu	37	13	110855947	110855947	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr13:110855947T>C	ENST00000375820.4	-	18	1086	c.965A>G	c.(964-966)aAg>aGg	p.K322R	COL4A1_ENST00000543140.1_Missense_Mutation_p.K322R	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	322	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TGCTTCACCCTTTTCTCCCTA	0.453																																						uc001vqw.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(964-966)aAg>aGg		Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.							127.0	130.0	129.0					13																	110855947		2203	4300	6503	SO:0001583	missense	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110855947T>C	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.965A>G	13.37:g.110855947T>C	ENSP00000364979:p.Lys322Arg						p.K322R	NM_001845	NP_001836	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		17	1087	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	322			Triple-helical region.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	37	c.965A>G	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	T	10.85	1.467400	0.26335	.	.	ENSG00000187498	ENST00000375820;ENST00000397198;ENST00000543140	D;D	0.93659	-3.26;-3.26	4.79	4.79	0.61399	.	0.000000	0.64402	D	0.000002	D	0.91673	0.7368	N	0.05330	-0.07	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	D	0.91333	0.5091	10	0.30078	T	0.28	.	14.3055	0.66382	0.0:0.0:0.0:1.0	.	322	P02462	CO4A1_HUMAN	R	322	ENSP00000364979:K322R;ENSP00000443348:K322R	ENSP00000364979:K322R	K	-	2	0	COL4A1	109653948	1.000000	0.71417	0.998000	0.56505	0.023000	0.10783	5.341000	0.65964	1.925000	0.55765	0.372000	0.22366	AAG		0.453	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3		
MAP3K9	4293	broad.mit.edu	37	14	71209191	71209191	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr14:71209191G>A	ENST00000554752.2	-	6	1443	c.1444C>T	c.(1444-1446)Cgg>Tgg	p.R482W	MAP3K9_ENST00000553414.1_Missense_Mutation_p.R176W|MAP3K9_ENST00000555993.2_Missense_Mutation_p.R482W|MAP3K9_ENST00000554146.1_Missense_Mutation_p.R219W|MAP3K9_ENST00000381250.4_Missense_Mutation_p.R482W	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	482	Leucine-zipper 2.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		TTGAGCTCCCGTTCCAGGATG	0.617																																					GBM(114;411 1587 13539 28235 50070)	uc001xmm.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46						c.(1444-1446)Cgg>Tgg		Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.							83.0	72.0	76.0					14																	71209191		2203	4300	6503	SO:0001583	missense	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71209191G>A	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.1444C>T	14.37:g.71209191G>A	ENSP00000451612:p.Arg482Trp					MAP3K9_uc010ttk.2_Missense_Mutation_p.R219W|MAP3K9_uc001xmk.3_Missense_Mutation_p.R176W|MAP3K9_uc001xml.3_Missense_Mutation_p.R482W	p.R482W	NM_033141	NP_149132	P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	5	1444	-			482			Leucine-zipper 2.		A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Missense_Mutation	SNP	ENST00000554752.2	37	c.1444C>T		.	.	.	.	.	.	.	.	.	.	G	14.85	2.657936	0.47467	.	.	ENSG00000006432	ENST00000554752;ENST00000005198;ENST00000553414;ENST00000381250;ENST00000554146;ENST00000542284	D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68	6.06	4.04	0.47022	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.90055	0.6894	M	0.75085	2.285	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.998;0.999;1.0	D;D;D;D	0.71656	0.974;0.943;0.974;0.964	D	0.91148	0.4951	10	0.56958	D	0.05	.	15.8058	0.78506	0.0:0.0:0.6895:0.3105	.	219;482;482;176	G3V4P9;P80192;P80192-4;G3V347	.;M3K9_HUMAN;.;.	W	482;482;176;482;219;210	ENSP00000451612:R482W;ENSP00000451038:R176W;ENSP00000370649:R482W;ENSP00000451921:R219W	ENSP00000005198:R482W	R	-	1	2	MAP3K9	70278944	0.931000	0.31567	0.269000	0.24586	0.135000	0.20990	0.992000	0.29667	1.550000	0.49438	0.655000	0.94253	CGG		0.617	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2		
EPB42	2038	broad.mit.edu	37	15	43499445	43499445	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr15:43499445C>A	ENST00000441366.2	-	9	1495	c.1270G>T	c.(1270-1272)Ggc>Tgc	p.G424C	EPB42_ENST00000540029.1_Missense_Mutation_p.G346C|EPB42_ENST00000300215.3_Missense_Mutation_p.G454C|EPB42_ENST00000563128.1_5'Flank	NM_000119.2|NM_001114134.1	NP_000110.2|NP_001107606.1	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	424					cell morphogenesis (GO:0000902)|erythrocyte maturation (GO:0043249)|hemoglobin metabolic process (GO:0020027)|iron ion homeostasis (GO:0055072)|peptide cross-linking (GO:0018149)|regulation of cell shape (GO:0008360)|spleen development (GO:0048536)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		CGGTCACTGCCCACACCCTTG	0.552																																						uc001zrb.4																			0				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1360-1362)Ggc>Tgc		Homo sapiens erythrocyte membrane protein band 4.2 (EPB42), transcript variant 1, mRNA.							132.0	93.0	106.0					15																	43499445		2203	4299	6502	SO:0001583	missense	2038				erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton	g.chr15:43499445C>A	M60298	CCDS10093.1, CCDS45249.1	15q15-q21	2013-05-02			ENSG00000166947	ENSG00000166947		"""Transglutaminases"""	3381	protein-coding gene	gene with protein product	"""Erythrocyte surface protein band 4.2"""	177070				1284644	Standard	NM_000119		Approved	PA, MGC116735, MGC116737	uc001zrb.4	P16452	OTTHUMG00000130701	ENST00000441366.2:c.1270G>T	15.37:g.43499445C>A	ENSP00000396616:p.Gly424Cys					EPB42_uc001zqz.4_Missense_Mutation_p.G91C|EPB42_uc001zra.4_Missense_Mutation_p.G424C|EPB42_uc010udm.2_Missense_Mutation_p.G346C	p.G454C	NM_000119	NP_000110	P16452	EPB42_HUMAN		GBM - Glioblastoma multiforme(94;8.7e-07)	8	1660	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	424					Q4KKX0|Q4VB97	Missense_Mutation	SNP	ENST00000441366.2	37	c.1360G>T	CCDS45249.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.010254	0.75046	.	.	ENSG00000166947	ENST00000300215;ENST00000540029;ENST00000441366;ENST00000397027	T;T;T	0.56275	0.47;0.47;0.47	6.02	5.1	0.69264	.	0.156705	0.56097	D	0.000025	T	0.77948	0.4207	M	0.91510	3.215	0.45427	D	0.9984	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.984;0.982;0.997;0.982	D	0.83543	0.0097	10	0.87932	D	0	-8.1132	14.4921	0.67657	0.148:0.852:0.0:0.0	.	346;424;454;424	F5H563;B7Z4C3;P16452-2;P16452	.;.;.;EPB42_HUMAN	C	454;346;424;352	ENSP00000300215:G454C;ENSP00000444699:G346C;ENSP00000396616:G424C	ENSP00000300215:G454C	G	-	1	0	EPB42	41286737	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.268000	0.43338	1.535000	0.49220	0.650000	0.86243	GGC		0.552	EPB42-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432219.1	NM_000119	
SMAD3	4088	broad.mit.edu	37	15	67457245	67457245	+	Silent	SNP	C	C	T			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr15:67457245C>T	ENST00000327367.4	+	2	529	c.219C>T	c.(217-219)ggC>ggT	p.G73G	SMAD3_ENST00000439724.3_Silent_p.G29G|SMAD3_ENST00000540846.2_5'UTR|SMAD3_ENST00000559092.1_Missense_Mutation_p.A55V|SMAD3_ENST00000537194.2_5'Flank	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	73	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell-cell junction organization (GO:0045216)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|embryonic pattern specification (GO:0009880)|endoderm development (GO:0007492)|evasion or tolerance of host defenses by virus (GO:0019049)|extrinsic apoptotic signaling pathway (GO:0097191)|gene expression (GO:0010467)|heart looping (GO:0001947)|immune response (GO:0006955)|immune system development (GO:0002520)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|lens fiber cell differentiation (GO:0070306)|liver development (GO:0001889)|mesoderm formation (GO:0001707)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein phosphorylation (GO:0001933)|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 wound healing (GO:0061045)|nodal signaling pathway (GO:0038092)|osteoblast development (GO:0002076)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta3 production (GO:0032916)|primary miRNA processing (GO:0031053)|protein stabilization (GO:0050821)|regulation of binding (GO:0051098)|regulation of epithelial cell proliferation (GO:0050678)|regulation of immune response (GO:0050776)|regulation of striated muscle tissue development (GO:0016202)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|somitogenesis (GO:0001756)|T cell activation (GO:0042110)|thyroid gland development (GO:0030878)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transport (GO:0006810)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|bHLH transcription factor binding (GO:0043425)|chromatin DNA binding (GO:0031490)|co-SMAD binding (GO:0070410)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		CCCTGGATGGCCGGTTGCAGG	0.612																																						uc002aqj.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(217-219)ggC>ggT		Homo sapiens SMAD family member 3 (SMAD3), transcript variant 1, mRNA.							145.0	162.0	157.0					15																	67457245		2201	4299	6500	SO:0001819	synonymous_variant	4088				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding	g.chr15:67457245C>T	BC050743	CCDS10222.1, CCDS45288.1, CCDS53950.1, CCDS53951.1	15q21-q22	2006-11-06	2006-11-06	2004-05-26	ENSG00000166949	ENSG00000166949		"""SMADs"""	6769	protein-coding gene	gene with protein product		603109	"""MAD, mothers against decapentaplegic homolog 3 (Drosophila)"", ""SMAD, mothers against DPP homolog 3 (Drosophila)"""	MADH3		8774881, 8673135	Standard	NM_001145102		Approved	JV15-2, HsT17436	uc002aqj.3	P84022	OTTHUMG00000133230	ENST00000327367.4:c.219C>T	15.37:g.67457245C>T						SMAD3_uc010ujr.2_5'UTR|SMAD3_uc010ujs.2_Silent_p.G29G|SMAD3_uc010ujt.2_5'Flank	p.G73G	NM_005902	NP_001138576	P84022	SMAD3_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)	1	517	+			73			MH1.		A8K4B6|B7Z4Z5|B7Z6M9|B7Z9Q2|F5H383|O09064|O09144|O14510|O35273|Q92940|Q93002|Q9GKR4	Silent	SNP	ENST00000327367.4	37	c.219C>T	CCDS10222.1																																																																																				0.612	SMAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256967.2	NM_005902	
CACNA1G	8913	broad.mit.edu	37	17	48697121	48697121	+	Silent	SNP	G	G	A			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr17:48697121G>A	ENST00000359106.5	+	34	5859	c.5859G>A	c.(5857-5859)ctG>ctA	p.L1953L	CACNA1G_ENST00000514079.1_Intron|CACNA1G_ENST00000514181.1_Intron|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000507609.1_Intron|CACNA1G_ENST00000513689.2_Silent_p.L1908L|CACNA1G_ENST00000512389.1_Intron|CACNA1G_ENST00000507336.1_Silent_p.L1942L|CACNA1G_ENST00000510115.1_Silent_p.L1919L|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000502264.1_Intron|CACNA1G_ENST00000515411.1_Silent_p.L1935L|CACNA1G_ENST00000442258.2_Intron|CACNA1G_ENST00000514717.1_Intron|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000354983.4_Silent_p.L1919L|CACNA1G_ENST00000503485.1_Intron|CACNA1G_ENST00000515765.1_Silent_p.L1942L|CACNA1G_ENST00000360761.4_Intron|CACNA1G_ENST00000507510.2_Silent_p.L1953L|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000515165.1_Intron|CACNA1G_ENST00000352832.5_Intron|CACNA1G_ENST00000429973.2_Intron	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1953					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGGACGAGCTGGCAGGCCCAG	0.667																																						uc002irk.1																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(5857-5859)ctG>ctA		Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						19.0	24.0	22.0					17																	48697121		1945	4138	6083	SO:0001819	synonymous_variant	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48697121G>A	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.5859G>A	17.37:g.48697121G>A						CACNA1G_uc002irj.1_Intron|CACNA1G_uc002irl.1_Intron|CACNA1G_uc002irm.1_Silent_p.L1919L|CACNA1G_uc002irn.1_Intron|CACNA1G_uc002iro.1_Intron|CACNA1G_uc002irp.1_Silent_p.L1953L|CACNA1G_uc002irq.1_Silent_p.L1930L|CACNA1G_uc002irr.1_Intron|CACNA1G_uc002irs.1_Silent_p.L1942L|CACNA1G_uc002irt.1_Intron|CACNA1G_uc002iru.1_Silent_p.L1919L|CACNA1G_uc002irv.1_Intron|CACNA1G_uc002irw.1_Intron|CACNA1G_uc002irx.1_Intron|CACNA1G_uc002iry.1_Intron|CACNA1G_uc002isg.1_Intron|CACNA1G_uc002ish.1_Intron|CACNA1G_uc002isi.1_Intron|CACNA1G_uc002irz.1_Intron|CACNA1G_uc002isa.1_Intron|CACNA1G_uc002isd.1_Intron|CACNA1G_uc002isb.1_Intron|CACNA1G_uc002isc.1_Silent_p.L1855L|CACNA1G_uc002ise.1_Silent_p.L1821L|CACNA1G_uc002isf.1_Silent_p.L1848L	p.L1953L	NM_018896	NP_061496	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		33	6231	+	Breast(11;6.7e-17)		1953					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Silent	SNP	ENST00000359106.5	37	c.5859G>A	CCDS45730.1																																																																																				0.667	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896	
CTIF	9811	broad.mit.edu	37	18	46385757	46385757	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr18:46385757A>G	ENST00000256413.3	+	12	1919	c.1624A>G	c.(1624-1626)Atg>Gtg	p.M542V	CTIF_ENST00000382998.4_Missense_Mutation_p.M544V	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	542	MIF4G.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						GCTGCCTGAGATGATGACAGA	0.637																																						uc002ldd.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						c.(1630-1632)Atg>Gtg		Homo sapiens CBP80/20-dependent translation initiation factor (CTIF), transcript variant 2, mRNA.							76.0	75.0	75.0					18																	46385757		2203	4300	6503	SO:0001583	missense	9811				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding	g.chr18:46385757A>G	AB007887	CCDS11935.1, CCDS45864.1	18q21.1	2011-01-20	2011-01-20	2011-01-20	ENSG00000134030	ENSG00000134030			23925	protein-coding gene	gene with protein product		613178	"""KIAA0427"""	KIAA0427		9455477, 19648179	Standard	NM_014772		Approved		uc002ldd.3	O43310	OTTHUMG00000132656	ENST00000256413.3:c.1624A>G	18.37:g.46385757A>G	ENSP00000256413:p.Met542Val					CTIF_uc002ldc.3_Missense_Mutation_p.M542V|CTIF_uc002lde.4_Missense_Mutation_p.M171V	p.M544V	NM_001142397	NP_001135869	O43310	CTIF_HUMAN			12	1989	+			542			MIF4G.		B3KTR8|Q8IVD5	Missense_Mutation	SNP	ENST00000256413.3	37	c.1630A>G	CCDS11935.1	.	.	.	.	.	.	.	.	.	.	A	13.33	2.205605	0.39003	.	.	ENSG00000134030	ENST00000256413;ENST00000382998;ENST00000420275	T;T	0.21734	1.99;1.99	5.07	5.07	0.68467	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.20455	0.0492	L	0.51422	1.61	0.49051	D	0.999746	B;B	0.31125	0.137;0.309	B;B	0.31946	0.085;0.138	T	0.03394	-1.1041	10	0.39692	T	0.17	-26.7577	10.435	0.44430	0.854:0.0:0.0:0.146	.	544;542	O43310-2;O43310	.;CTIF_HUMAN	V	542;544;494	ENSP00000256413:M542V;ENSP00000372459:M544V	ENSP00000256413:M542V	M	+	1	0	CTIF	44639755	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.225000	0.72271	1.929000	0.55896	0.459000	0.35465	ATG		0.637	CTIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255907.1	NM_014772	
DNMT1	1786	broad.mit.edu	37	19	10254528	10254528	+	Silent	SNP	G	G	A			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr19:10254528G>A	ENST00000340748.4	-	28	3217	c.2982C>T	c.(2980-2982)ggC>ggT	p.G994G	DNMT1_ENST00000540357.1_Silent_p.G994G|DNMT1_ENST00000359526.4_Silent_p.G1010G|DNMT1_ENST00000589538.1_5'UTR			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	994	BAH 2. {ECO:0000255|PROSITE- ProRule:PRU00370}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	CTTTGATCCGGCCAATTCGGT	0.542																																						uc002mng.3																			0				breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70						c.(2980-2982)ggC>ggT		Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 2, mRNA.	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)						254.0	241.0	245.0					19																	10254528		2203	4300	6503	SO:0001819	synonymous_variant	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10254528G>A	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.2982C>T	19.37:g.10254528G>A						DNMT1_uc002mnf.3_5'UTR|DNMT1_uc010xlc.2_Silent_p.G1010G|DNMT1_uc002mnh.3_Silent_p.G889G|DNMT1_uc010xld.2_Silent_p.G994G	p.G994G	NM_001379	NP_001370	P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		27	3162	-			994			BAH 2.		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Silent	SNP	ENST00000340748.4	37	c.2982C>T	CCDS12228.1																																																																																				0.542	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379	
CRLF1	9244	broad.mit.edu	37	19	18710416	18710416	+	Missense_Mutation	SNP	C	C	T	rs146027258		TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr19:18710416C>T	ENST00000392386.3	-	2	549	c.356G>A	c.(355-357)cGt>cAt	p.R119H		NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	119	Ig-like C2-type.				negative regulation of motor neuron apoptotic process (GO:2000672)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of cell proliferation (GO:0008284)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|ureteric bud development (GO:0001657)	CRLF-CLCF1 complex (GO:0097058)|extracellular space (GO:0005615)	cytokine binding (GO:0019955)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)	p.R119H(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						GCTGCCGTCACGGGCGTGGCA	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		16916	0.0		0.001	False		,,,				2504	0.0					uc010ebt.2																			1	Substitution - Missense(1)	p.R119H(2)	central_nervous_system(1)	central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						c.(355-357)cGt>cAt		Homo sapiens cytokine receptor-like factor 1 (CRLF1), mRNA.		C	HIS/ARG	1,4403		0,1,2201	34.0	34.0	34.0		356	-1.3	0.1	19	dbSNP_134	34	12,8588		0,12,4288	yes	missense	CRLF1	NM_004750.4	29	0,13,6489	TT,TC,CC		0.1395,0.0227,0.1	benign	119/423	18710416	13,12991	2202	4300	6502	SO:0001583	missense	9244				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity	g.chr19:18710416C>T	AF059293	CCDS32962.1	19p12	2013-02-11				ENSG00000006016		"""Fibronectin type III domain containing"""	2364	protein-coding gene	gene with protein product	"""cold-induced sweating syndrome"""	604237				9686600	Standard	NM_004750		Approved	CLF-1, CLF, CISS, CISS1	uc010ebt.2	O75462		ENST00000392386.3:c.356G>A	19.37:g.18710416C>T	ENSP00000376188:p.Arg119His						p.R119H	NM_004750	NP_004741	O75462	CRLF1_HUMAN			1	550	-			119			Ig-like C2-type.		Q9UHH5	Missense_Mutation	SNP	ENST00000392386.3	37	c.356G>A	CCDS32962.1	.	.	.	.	.	.	.	.	.	.	C	9.691	1.151897	0.21371	2.27E-4	0.001395	ENSG00000006016	ENST00000392386	D	0.86030	-2.06	5.23	-1.29	0.09288	Immunoglobulin-like fold (1);	0.681186	0.15402	N	0.264279	T	0.60508	0.2274	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.50474	-0.8824	10	0.22109	T	0.4	-5.7136	5.0552	0.14529	0.0:0.4249:0.2632:0.3119	.	119	O75462	CRLF1_HUMAN	H	119	ENSP00000376188:R119H	ENSP00000376188:R119H	R	-	2	0	CRLF1	18571416	0.001000	0.12720	0.145000	0.22337	0.529000	0.34654	-0.088000	0.11198	0.195000	0.20347	0.511000	0.50034	CGT		0.652	CRLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465129.1		
FOSB	2354	broad.mit.edu	37	19	45973902	45973902	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr19:45973902G>A	ENST00000353609.3	+	2	734	c.142G>A	c.(142-144)Ggg>Agg	p.G48R	FOSB_ENST00000586615.1_5'UTR|FOSB_ENST00000592436.1_Missense_Mutation_p.G48R|FOSB_ENST00000592811.1_5'UTR|FOSB_ENST00000585836.1_Intron|FOSB_ENST00000591858.1_Intron|FOSB_ENST00000590335.1_Missense_Mutation_p.G48R|FOSB_ENST00000443841.2_Intron|FOSB_ENST00000417353.2_Missense_Mutation_p.G48R|ERCC1_ENST00000423698.2_Intron	NM_006732.2	NP_006723.2	P53539	FOSB_HUMAN	FBJ murine osteosarcoma viral oncogene homolog B	48					cellular response to calcium ion (GO:0071277)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	13		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		CGCCGGTCTCGGGGAAATGCC	0.582																																						uc002pbx.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	13						c.(142-144)Ggg>Agg		Homo sapiens FBJ murine osteosarcoma viral oncogene homolog B (FOSB), transcript variant 1, mRNA.							119.0	126.0	123.0					19																	45973902		2203	4300	6503	SO:0001583	missense	2354				behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr19:45973902G>A		CCDS12664.1, CCDS46113.1	19q13.3	2013-01-10						"""basic leucine zipper proteins"""	3797	protein-coding gene	gene with protein product	"""oncogene FOS-B"", ""activator protein 1"""	164772				1301997	Standard	NM_006732		Approved	G0S3, GOSB, GOS3, AP-1, MGC42291, DKFZp686C0818	uc002pbx.4	P53539		ENST00000353609.3:c.142G>A	19.37:g.45973902G>A	ENSP00000245919:p.Gly48Arg					ERCC1_uc002pbu.2_Intron|FOSB_uc002pbw.3_Missense_Mutation_p.G48R|FOSB_uc010eka.1_Intron|FOSB_uc010ekb.1_Missense_Mutation_p.G48R|FOSB_uc010ekc.1_Intron|FOSB_uc010ekd.1_Missense_Mutation_p.G48R|FOSB_uc010eke.3_Intron|FOSB_uc002pby.4_Missense_Mutation_p.G48R|FOSB_uc010ekf.3_Intron|FOSB_uc010ekg.3_Intron|FOSB_uc002pca.4_5'UTR	p.G48R	NM_006732	NP_006723	P53539	FOSB_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)	1	734	+		Ovarian(192;0.051)|all_neural(266;0.112)	48					A8K9K5|A8VJE1|A8VJE6|A8VJF0|A8VJF3|A8VJF7|A8VJG1|A8VJG5|A8VJG9|E7EPR6|E9PHJ3|K7EMJ6|Q49AD7	Missense_Mutation	SNP	ENST00000353609.3	37	c.142G>A	CCDS12664.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.489243	0.64074	.	.	ENSG00000125740	ENST00000353609;ENST00000417353;ENST00000455928	T;T	0.42513	0.97;0.97	4.39	4.39	0.52855	.	0.121669	0.56097	D	0.000033	T	0.31071	0.0785	L	0.44542	1.39	0.80722	D	1	P;B;P	0.42649	0.786;0.313;0.786	B;B;B	0.36766	0.106;0.012;0.232	T	0.07809	-1.0753	10	0.37606	T	0.19	-6.4664	9.6828	0.40080	0.0:0.0:0.7928:0.2072	.	48;48;48	E9PHJ3;P53539;A8VJE1	.;FOSB_HUMAN;.	R	48	ENSP00000245919:G48R;ENSP00000407207:G48R	ENSP00000245919:G48R	G	+	1	0	FOSB	50665742	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.656000	0.54467	2.289000	0.77006	0.561000	0.74099	GGG		0.582	FOSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459561.1	NM_006732	
PNMAL2	57469	broad.mit.edu	37	19	46997949	46997949	+	Intron	SNP	G	G	A			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr19:46997949G>A	ENST00000377655.2	-	1	734				PNMAL2_ENST00000599531.1_Silent_p.T258T|PNMAL2_ENST00000594749.1_Intron|AC011484.1_ENST00000377652.3_Silent_p.T20T			Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2											central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		TGTCGGTGACGGTGACCAGAG	0.602																																						uc002pes.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8						c.(772-774)acC>acT		Homo sapiens PNMA-like 2 (PNMAL2), mRNA.							72.0	62.0	65.0					19																	46997949		2203	4300	6503	SO:0001627	intron_variant	57469							g.chr19:46997949G>A	AB033009	CCDS59400.1	19q13.32	2014-02-12	2012-02-09		ENSG00000204851	ENSG00000204851		"""Paraneoplastic Ma antigens"""	29206	protein-coding gene	gene with protein product			"""PNMA-like 2"""			10574461	Standard	NM_020709		Approved	KIAA1183	uc002pes.2	Q9ULN7		ENST00000377655.2:c.734+39C>T	19.37:g.46997949G>A						LOC100506012_uc021uwg.1_Intron|BC132841_uc002peu.1_Silent_p.T20T	p.T258T	NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)	0	1221	-		Ovarian(192;0.00965)|all_neural(266;0.0459)	258					C9JGD5|M0R374|Q08E79|Q0D2F9|Q6ZVD1	Silent	SNP	ENST00000377655.2	37	c.774C>T																																																																																					0.602	PNMAL2-201	KNOWN	basic	protein_coding	protein_coding		NM_020709	
DHX34	9704	broad.mit.edu	37	19	47883014	47883014	+	Silent	SNP	C	C	T			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr19:47883014C>T	ENST00000328771.4	+	14	3103	c.2754C>T	c.(2752-2754)tcC>tcT	p.S918S		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	918					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GTGACTGCTCCCGCCTGGTGG	0.627																																						uc010xyn.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2752-2754)tcC>tcT		Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 34 (DHX34), mRNA.							80.0	72.0	75.0					19																	47883014		2203	4300	6503	SO:0001819	synonymous_variant	9704					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding	g.chr19:47883014C>T	D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"""DEAH-boxes"""	16719	protein-coding gene	gene with protein product		615475	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"""	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.2754C>T	19.37:g.47883014C>T						DHX34_uc010xyo.1_Silent_p.S47S	p.S918S	NM_014681	NP_055496	Q14147	DHX34_HUMAN		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)	13	3103	+		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	918					B4DMY8	Silent	SNP	ENST00000328771.4	37	c.2754C>T	CCDS12700.1																																																																																				0.627	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	NM_014681	
MTA3	57504	broad.mit.edu	37	2	42883411	42883411	+	Nonsense_Mutation	SNP	C	C	T	rs368905145		TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr2:42883411C>T	ENST00000405094.1	+	7	571	c.571C>T	c.(571-573)Cga>Tga	p.R191*	MTA3_ENST00000407270.3_Nonsense_Mutation_p.R191*|MTA3_ENST00000406652.1_Nonsense_Mutation_p.R135*|MTA3_ENST00000406911.1_Nonsense_Mutation_p.R191*|MTA3_ENST00000405592.1_Nonsense_Mutation_p.R135*			Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3	191	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.					intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						ACTTACGGATCGACAGATTGA	0.328																																						uc002rso.1																			0		p.V135V(1)		endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						c.(403-405)Cga>Tga		Homo sapiens metastasis associated 1 family, member 3 (MTA3), mRNA.							120.0	110.0	113.0					2																	42883411		1835	4101	5936	SO:0001587	stop_gained	57504					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:42883411C>T	AB033092	CCDS46267.1, CCDS62900.1	2p22.1	2013-01-25	2004-12-15		ENSG00000057935	ENSG00000057935		"""GATA zinc finger domain containing"""	23784	protein-coding gene	gene with protein product		609050	"""metastasis associated gene family, member 3"""			12705869, 14613024	Standard	NM_001282755		Approved	KIAA1266	uc002rsq.3	Q9BTC8	OTTHUMG00000150452	ENST00000405094.1:c.571C>T	2.37:g.42883411C>T	ENSP00000385823:p.Arg191*					MTA3_uc002rsp.1_Nonsense_Mutation_p.R135*|MTA3_uc002rsq.3_Nonsense_Mutation_p.R191*	p.R135*	NM_020744	NP_065795	Q9BTC8	MTA3_HUMAN			7	1073	+			191			BAH.		Q9NSP2|Q9ULF4	Nonsense_Mutation	SNP	ENST00000405094.1	37	c.403C>T		.	.	.	.	.	.	.	.	.	.	C	22.9	4.353199	0.82132	.	.	ENSG00000057935	ENST00000405592;ENST00000406652;ENST00000407270;ENST00000282366;ENST00000406911;ENST00000405094	.	.	.	5.09	5.09	0.68999	.	0.249386	0.33854	N	0.004498	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.3391	13.6621	0.62374	0.1543:0.8457:0.0:0.0	.	.	.	.	X	135;135;191;191;191;191	.	ENSP00000282366:R191X	R	+	1	2	MTA3	42736915	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.406000	0.52637	2.648000	0.89879	0.650000	0.86243	CGA		0.328	MTA3-017	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000318159.1	NM_020744	
REV1	51455	broad.mit.edu	37	2	100024503	100024507	+	Frame_Shift_Del	DEL	TGATA	TGATA	-			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr2:100024503_100024507delTGATA	ENST00000258428.3	-	15	2660_2664	c.2432_2436delTATCA	c.(2431-2436)atatcafs	p.IS811fs	REV1_ENST00000393445.3_Frame_Shift_Del_p.IS810fs|REV1_ENST00000465835.1_5'UTR|RP11-527J8.1_ENST00000608144.1_RNA	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	811					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)	p.I811M(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTCTCATATCTGATATATTTAGTTT	0.346								Direct reversal of damage																														uc002tad.3																			1	Substitution - Missense(1)	p.I811M(2)	NS(1)	NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2431-2436)atatcafs	Direct reversal of damage	Homo sapiens REV1 homolog (S. cerevisiae) (REV1), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	51455				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	g.chr2:100024503_100024507delTGATA	AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"""DNA polymerases"""	14060	protein-coding gene	gene with protein product		606134	"""REV1 (yeast homolog)- like"", ""REV1-like (yeast)"", ""REV1 homolog (S. cerevisiae)"""	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.2432_2436delTATCA	2.37:g.100024503_100024507delTGATA	ENSP00000258428:p.Ile811fs					REV1_uc002tac.3_Frame_Shift_Del_p.I810fs	p.I811fs	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN			14	2644_2648	-			811					O95941|Q53SI7|Q9C0J4|Q9NUP2	Frame_Shift_Del	DEL	ENST00000258428.3	37	c.2432_2436delTATCA	CCDS2045.1																																																																																				0.346	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2	NM_016316	
SEPT10	151011	broad.mit.edu	37	2	110303622	110303625	+	Splice_Site	DEL	CTTA	CTTA	-			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr2:110303622_110303625delCTTA	ENST00000397712.2	-	10	1728		c.e10+1		SEPT10_ENST00000545389.1_Stop_Codon_Del|SEPT10_ENST00000468616.1_5'UTR|SEPT10_ENST00000397714.2_Splice_Site|SEPT10_ENST00000334001.6_Splice_Site|SEPT10_ENST00000437928.1_Splice_Site|SEPT10_ENST00000415095.1_Stop_Codon_Del|SEPT10_ENST00000356688.4_Splice_Site	NM_144710.3	NP_653311.1	Q9P0V9	SEP10_HUMAN	septin 10						cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						GGCTGGGCCTCTTACTTCTTACGG	0.505											OREG0014878	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002tey.3																			0				breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						c.e10+1		Homo sapiens septin 10 (SEPT10), transcript variant 1, mRNA.																																				SO:0001630	splice_region_variant	151011				cell cycle|cell division	septin complex	GTP binding	g.chr2:110303622_110303625delCTTA	AF146760	CCDS42726.1, CCDS46383.1	2q13	2013-01-21			ENSG00000186522	ENSG00000186522		"""Septins"""	14349	protein-coding gene	gene with protein product	"""sept1-like"""	611737				12711328	Standard	NM_144710		Approved	FLJ11619	uc002tew.4	Q9P0V9	OTTHUMG00000154957	ENST00000397712.2:c.1349+1TAAG>-	2.37:g.110303622_110303625delCTTA			OREG0014878	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1426	SEPT10_uc010ywu.1_Stop_Codon_Del|SEPT10_uc002tew.3_Splice_Site_p.N450_splice|SEPT10_uc002tex.3_Splice_Site_p.N427_splice|SEPT10_uc010ywv.2_Splice_Site_p.N316_splice|SEPT10_uc002tev.1_Stop_Codon_Del|SEPT10_uc010fjo.3_Splice_Site	p.K450_splice	NM_144710	NP_653311	Q9P0V9	SEP10_HUMAN			10	1728	-			0					B3KRQ9|Q86VP5|Q9HAH6	Splice_Site	DEL	ENST00000397712.2	37	c.1349_splice	CCDS46383.1																																																																																				0.505	SEPT10-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337804.1	NM_144710	Intron
POTEF	728378	broad.mit.edu	37	2	130877828	130877828	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr2:130877828G>T	ENST00000409914.2	-	3	660	c.261C>A	c.(259-261)gaC>gaA	p.D87E	POTEF_ENST00000361163.4_Missense_Mutation_p.D87E|POTEF_ENST00000360967.5_Missense_Mutation_p.D87E|POTEF_ENST00000357462.5_Missense_Mutation_p.D87E	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	87					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TAGCAGAGTCGTCGTGGTCTC	0.612																																						uc010fmh.2																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						c.(259-261)gaC>gaA		Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.							93.0	120.0	111.0					2																	130877828		2203	4294	6497	SO:0001583	missense	728378					cell cortex	ATP binding	g.chr2:130877828G>T	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.261C>A	2.37:g.130877828G>T	ENSP00000386786:p.Asp87Glu						p.D87E	NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN			2	661	-			87					A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	c.261C>A	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	1.582	-0.531241	0.04112	.	.	ENSG00000196604	ENST00000357462;ENST00000409914;ENST00000360967;ENST00000361163	T;T;T;T	0.77229	-1.08;-1.08;1.74;1.72	0.4	-0.8	0.10897	.	.	.	.	.	T	0.63390	0.2507	L	0.61218	1.895	0.09310	N	1	P	0.47910	0.902	B	0.33196	0.159	T	0.54629	-0.8265	8	0.48119	T	0.1	.	.	.	.	.	87	A5A3E0	POTEF_HUMAN	E	87	ENSP00000350052:D87E;ENSP00000386786:D87E;ENSP00000354232:D87E;ENSP00000355012:D87E	ENSP00000350052:D87E	D	-	3	2	POTEF	130594298	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-1.078000	0.03413	-1.249000	0.02500	-1.236000	0.01555	GAC		0.612	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771	
ITGAV	3685	broad.mit.edu	37	2	187506166	187506166	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr2:187506166G>A	ENST00000261023.3	+	12	1284	c.1010G>A	c.(1009-1011)gGc>gAc	p.G337D	AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000433736.2_Missense_Mutation_p.G291D|ITGAV_ENST00000374907.3_Missense_Mutation_p.G301D	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	337					angiogenesis (GO:0001525)|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)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	GGCTCTGATGGCAAACTCCAA	0.458																																					Melanoma(58;108 1995 6081)	uc002upq.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(1009-1011)gGc>gAc		Homo sapiens integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51) (ITGAV), transcript variant 1, mRNA.							153.0	148.0	149.0					2																	187506166		2203	4300	6503	SO:0001583	missense	3685				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	g.chr2:187506166G>A		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.1010G>A	2.37:g.187506166G>A	ENSP00000261023:p.Gly337Asp					ITGAV_uc010frs.3_Missense_Mutation_p.G301D|ITGAV_uc010zfv.2_Missense_Mutation_p.G291D	p.G337D	NM_002210	NP_002201	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	11	1286	+			337					A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Missense_Mutation	SNP	ENST00000261023.3	37	c.1010G>A	CCDS2292.1	.	.	.	.	.	.	.	.	.	.	G	35	5.504117	0.96371	.	.	ENSG00000138448	ENST00000544640;ENST00000261023;ENST00000374907;ENST00000433736	D;D;D	0.83992	-1.79;-1.79;-1.79	5.71	5.71	0.89125	.	0.094407	0.64402	D	0.000001	D	0.93416	0.7900	M	0.92026	3.265	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;1.0	D	0.94092	0.7354	10	0.72032	D	0.01	.	19.8557	0.96758	0.0:0.0:1.0:0.0	.	291;301;337	E7EWZ6;P06756-2;P06756	.;.;ITAV_HUMAN	D	337;337;301;291	ENSP00000261023:G337D;ENSP00000364042:G301D;ENSP00000404291:G291D	ENSP00000261023:G337D	G	+	2	0	ITGAV	187214411	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.624000	0.98398	2.707000	0.92482	0.655000	0.94253	GGC		0.458	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210	
SGOL2	151246	broad.mit.edu	37	2	201437521	201437521	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr2:201437521A>G	ENST00000357799.4	+	7	2550	c.2452A>G	c.(2452-2454)Ata>Gta	p.I818V		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	818					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						AAAGTCAGAAATAATTCCTGA	0.348																																						uc002uvw.2																			0				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						c.(2452-2454)Ata>Gta		Homo sapiens shugoshin-like 2 (S. pombe) (SGOL2), transcript variant 1, mRNA.							85.0	80.0	82.0					2																	201437521		1827	4083	5910	SO:0001583	missense	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201437521A>G	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.2452A>G	2.37:g.201437521A>G	ENSP00000350447:p.Ile818Val					SGOL2_uc010zhd.1_Missense_Mutation_p.I818V|SGOL2_uc010zhe.1_Missense_Mutation_p.I818V	p.I818V	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN			6	2565	+			818					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	ENST00000357799.4	37	c.2452A>G	CCDS42796.1	.	.	.	.	.	.	.	.	.	.	A	3.689	-0.063842	0.07273	.	.	ENSG00000163535	ENST00000357799	T	0.18502	2.21	4.74	1.09	0.20402	.	0.202424	0.34906	N	0.003582	T	0.18002	0.0432	M	0.73962	2.25	0.80722	D	1	B;B;B	0.26975	0.165;0.165;0.041	B;B;B	0.26416	0.069;0.041;0.019	T	0.04203	-1.0969	10	0.62326	D	0.03	-4.565	6.1894	0.20516	0.6933:0.0:0.3067:0.0	.	818;818;818	B7Z7S9;Q562F6-2;Q562F6	.;.;SGOL2_HUMAN	V	818	ENSP00000350447:I818V	ENSP00000350447:I818V	I	+	1	0	SGOL2	201145766	0.998000	0.40836	0.996000	0.52242	0.115000	0.19883	0.831000	0.27476	0.387000	0.25024	0.477000	0.44152	ATA		0.348	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524	
GPBAR1	151306	broad.mit.edu	37	2	219127776	219127776	+	Missense_Mutation	SNP	G	G	A	rs186702546	byFrequency	TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr2:219127776G>A	ENST00000522678.1	+	2	1197	c.329G>A	c.(328-330)cGc>cAc	p.R110H	GPBAR1_ENST00000521462.1_Missense_Mutation_p.R110H|GPBAR1_ENST00000519574.1_Missense_Mutation_p.R110H|GPBAR1_ENST00000479077.1_Missense_Mutation_p.R110H	NM_001077191.1	NP_001070659.1	Q8TDU6	GPBAR_HUMAN	G protein-coupled bile acid receptor 1	110					cell surface bile acid receptor signaling pathway (GO:0038184)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid receptor activity (GO:0038181)|G-protein coupled bile acid receptor activity (GO:0038182)			cervix(1)|kidney(1)|large_intestine(1)|ovary(1)	4		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACGGGGAGCGCTACATGGCA	0.647													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18100	0.0		0.0	False		,,,				2504	0.0					uc021vwu.1																			0				cervix(1)|kidney(1)|large_intestine(1)|ovary(1)	4						c.(328-330)cGc>cAc		Homo sapiens G protein-coupled bile acid receptor 1 (GPBAR1), transcript variant 3, mRNA.		G	HIS/ARG,HIS/ARG,HIS/ARG	8,4272		0,8,2132	60.0	65.0	63.0		329,329,329	5.2	1.0	2		63	5,8487		0,5,4241	yes	missense,missense,missense	GPBAR1	NM_001077191.1,NM_001077194.1,NM_170699.2	29,29,29	0,13,6373	AA,AG,GG		0.0589,0.1869,0.1018	probably-damaging,probably-damaging,probably-damaging	110/331,110/331,110/331	219127776	13,12759	2140	4246	6386	SO:0001583	missense	151306					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:219127776G>A	AB086170	CCDS46515.1	2q35	2012-08-08			ENSG00000179921	ENSG00000179921			19680	protein-coding gene	gene with protein product		610147				12419312	Standard	NM_170699		Approved	BG37, GPCR, TGR5, M-BAR, GPCR19, GPR131, MGC40597	uc010zjw.1	Q8TDU6	OTTHUMG00000155203	ENST00000522678.1:c.329G>A	2.37:g.219127776G>A	ENSP00000430886:p.Arg110His					GPBAR1_uc010zjx.1_Missense_Mutation_p.R110H|GPBAR1_uc010zjw.1_Missense_Mutation_p.R110H|GPBAR1_uc010zjy.1_Missense_Mutation_p.R110H	p.R110H	NM_170699	NP_733800	Q8TDU6	GPBAR_HUMAN		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	0	329	+		Renal(207;0.0474)	110					B3KV35	Missense_Mutation	SNP	ENST00000522678.1	37	c.329G>A	CCDS46515.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	G	18.41	3.617064	0.66672	0.001869	5.89E-4	ENSG00000179921	ENST00000479077;ENST00000522678;ENST00000519574;ENST00000521462	D;D;D;D	0.97161	-4.27;-4.27;-4.27;-4.27	5.15	5.15	0.70609	GPCR, rhodopsin-like superfamily (1);	0.080783	0.48286	U	0.000198	D	0.97763	0.9266	M	0.78049	2.395	0.37255	D	0.906725	D	0.89917	1.0	D	0.77004	0.989	D	0.98492	1.0610	10	0.87932	D	0	-13.1075	6.5996	0.22693	0.088:0.0:0.7323:0.1797	.	110	Q8TDU6	GPBAR_HUMAN	H	110	ENSP00000430698:R110H;ENSP00000430886:R110H;ENSP00000430202:R110H;ENSP00000428824:R110H	ENSP00000430698:R110H	R	+	2	0	GPBAR1	218836020	1.000000	0.71417	1.000000	0.80357	0.628000	0.37860	2.992000	0.49417	2.677000	0.91161	0.561000	0.74099	CGC		0.647	GPBAR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338767.3	NM_001077191	
FGFR3	2261	broad.mit.edu	37	4	1807889	1807889	+	Missense_Mutation	SNP	A	A	G	rs78311289		TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr4:1807889A>G	ENST00000260795.2	+	13	2050	c.1948A>G	c.(1948-1950)Aag>Gag	p.K650E	FGFR3_ENST00000352904.1_Missense_Mutation_p.K538E|FGFR3_ENST00000340107.4_Missense_Mutation_p.K652E|FGFR3_ENST00000440486.2_Missense_Mutation_p.K650E|FGFR3_ENST00000412135.2_Missense_Mutation_p.K538E|FGFR3_ENST00000481110.2_Missense_Mutation_p.K651E			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	650	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		K -> E (in KERSEB, TD2, TGCT and bladder cancer samples; bladder transitional cell carcinoma; somatic mutation; constitutively activated kinase with impaired internalization and degradation, resulting in prolonged FGFR3 signaling). {ECO:0000269|PubMed:10471491, ECO:0000269|PubMed:15772091, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:19855393, ECO:0000269|PubMed:7773297, ECO:0000269|PubMed:9207791}.|K -> M (in KERSEB, ACH and TD1; constitutively activated kinase with impaired internalization and degradation, resulting in prolonged FGFR3 signaling). {ECO:0000269|PubMed:10671061, ECO:0000269|PubMed:15772091, ECO:0000269|PubMed:9207791}.|K -> Q (in hypochondroplasia and bladder cancer; in hypochondroplasia the form is milder than that seen in individuals with the K-540 or M-650 mutations; constitutively activated kinase). {ECO:0000269|PubMed:11055896, ECO:0000269|PubMed:11314002}.		alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)	p.K650E(46)|p.K650Q(5)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	CTACTACAAGAAGACGACCAA	0.667		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome																													uc003gdr.3		1		Dom	yes		4	4p16.3	2261	"""Mis, T"""	fibroblast growth factor receptor 3	yes	"""Hypochondroplasia, Thanatophoric dysplasia"""	"""L, E"""	"""IGH@, ETV6"""		"""bladder, MM, T-cell lymphoma"""		51	Substitution - Missense(51)	p.K650E(121)|p.K650M(81)|p.K650Q(10)|p.K650T(5)|p.K650N(1)	urinary_tract(28)|skin(12)|haematopoietic_and_lymphoid_tissue(8)|testis(2)|central_nervous_system(1)	NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091	GRCh37	CM002967|CM950476	FGFR3	M	rs78311289	c.(1948-1950)Aag>Gag		Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 1, mRNA.	Palifermin(DB00039)						31.0	32.0	31.0					4																	1807889		2203	4299	6502	SO:0001583	missense	2261	Saethre-Chotzen syndrome;Muenke syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	g.chr4:1807889A>G	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3690	protein-coding gene	gene with protein product		134934	"""achondroplasia, thanatophoric dwarfism"""	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.1948A>G	4.37:g.1807889A>G	ENSP00000260795:p.Lys650Glu					FGFR3_uc003gdu.2_Missense_Mutation_p.K652E|FGFR3_uc003gds.3_Missense_Mutation_p.K538E|FGFR3_uc003gdq.3_Missense_Mutation_p.K651E	p.K650E	NM_000142	NP_000133	P22607	FGFR3_HUMAN	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		13	2204	+		Breast(71;0.212)|all_epithelial(65;0.241)	650		K -> E (in KERSEB, TD2 and bladder cancer samples; bladder transitional cell carcinoma; somatic mutation).|K -> M (in KERSEB, ACH and TD1).|K -> Q (in hypochondroplasia and bladder cancer; in hypochondroplasia the form is milder than that seen in individuals with the K-540 or M-650 mutations).	Protein kinase.		D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Missense_Mutation	SNP	ENST00000260795.2	37	c.1948A>G	CCDS3353.1	.	.	.	.	.	.	.	.	.	.	a	17.29	3.352315	0.61293	.	.	ENSG00000068078	ENST00000481110;ENST00000340107;ENST00000440486;ENST00000412135;ENST00000260795;ENST00000352904	D;D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68;-1.68	4.35	4.35	0.52113	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.86900	0.6044	L	0.39514	1.22	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.91635	0.999;0.959;0.999;0.999	D	0.88359	0.2986	10	0.87932	D	0	.	13.8152	0.63287	1.0:0.0:0.0:0.0	.	652;538;650;651	P22607-2;P22607-3;P22607;F8W9L4	.;.;FGFR3_HUMAN;.	E	651;652;650;538;650;538	ENSP00000420533:K651E;ENSP00000339824:K652E;ENSP00000414914:K650E;ENSP00000412903:K538E;ENSP00000260795:K650E;ENSP00000231803:K538E	ENSP00000260795:K650E	K	+	1	0	FGFR3	1777687	1.000000	0.71417	1.000000	0.80357	0.409000	0.31022	8.925000	0.92832	1.727000	0.51537	0.368000	0.22195	AAG		0.667	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2	NM_000142	
BANK1	55024	broad.mit.edu	37	4	102984233	102984233	+	Splice_Site	SNP	A	A	C			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr4:102984233A>C	ENST00000322953.4	+	13	2424	c.2150A>C	c.(2149-2151)gAg>gCg	p.E717A	BANK1_ENST00000508653.1_Splice_Site_p.E584A|BANK1_ENST00000504592.1_Splice_Site_p.E702A|BANK1_ENST00000428908.1_Splice_Site_p.E584A|BANK1_ENST00000444316.2_Splice_Site_p.E687A	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	717					B cell activation (GO:0042113)					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		CACATTAAGGAGAAATTACGA	0.333																																						uc003hvy.4																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44						c.e13-1		Homo sapiens B-cell scaffold protein with ankyrin repeats 1 (BANK1), transcript variant 1, mRNA.							84.0	84.0	84.0					4																	102984233		2203	4300	6503	SO:0001630	splice_region_variant	55024				B cell activation			g.chr4:102984233A>C	AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"""Ankyrin repeat domain containing"""	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.2149-1A>C	4.37:g.102984233A>C						BANK1_uc003hvx.4_Splice_Site_p.E702_splice|BANK1_uc010ill.3_Splice_Site_p.E584_splice|BANK1_uc003hvz.4_Splice_Site_p.E687_splice	p.E717_splice	NM_017935	NP_001077376	Q8NDB2	BANK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)	13	2423	+		Hepatocellular(203;0.217)	717					A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Missense_Mutation	SNP	ENST00000322953.4	37	c.2149_splice	CCDS34038.1	.	.	.	.	.	.	.	.	.	.	A	14.52	2.560853	0.45590	.	.	ENSG00000153064	ENST00000504592;ENST00000322953;ENST00000428908;ENST00000508653;ENST00000444316	T;T;T;T;T	0.28895	2.24;2.25;1.59;1.59;2.23	5.58	5.58	0.84498	.	0.192431	0.42294	D	0.000733	T	0.43100	0.1232	L	0.58101	1.795	0.31615	N	0.651035	D;P;P	0.57899	0.981;0.925;0.925	P;P;P	0.54100	0.742;0.453;0.453	T	0.56631	-0.7947	10	0.72032	D	0.01	.	12.1345	0.53964	1.0:0.0:0.0:0.0	.	584;717;702	Q8NDB2-4;Q8NDB2;Q8NDB2-2	.;BANK1_HUMAN;.	A	702;717;584;584;687	ENSP00000421443:E702A;ENSP00000320509:E717A;ENSP00000412748:E584A;ENSP00000422314:E584A;ENSP00000388817:E687A	ENSP00000320509:E717A	E	+	2	0	BANK1	103203256	1.000000	0.71417	1.000000	0.80357	0.062000	0.15995	4.620000	0.61226	2.118000	0.64928	0.459000	0.35465	GAG		0.333	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363161.1	NM_017935	Missense_Mutation
NDST4	64579	broad.mit.edu	37	4	115792048	115792048	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr4:115792048G>C	ENST00000264363.2	-	7	2273	c.1595C>G	c.(1594-1596)aCc>aGc	p.T532S		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	532	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GTTCACAAAGGTATATAACCC	0.403																																						uc003ibu.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(1594-1596)aCc>aGc		Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.							100.0	109.0	106.0					4																	115792048		2203	4300	6503	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115792048G>C	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.1595C>G	4.37:g.115792048G>C	ENSP00000264363:p.Thr532Ser					NDST4_uc010imw.3_Non-coding_Transcript	p.T532S	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	6	2274	-		Ovarian(17;0.156)	532			Heparan sulfate N-deacetylase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.1595C>G	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.741308	0.89573	.	.	ENSG00000138653	ENST00000264363	T	0.43294	0.95	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.64483	0.2602	M	0.82517	2.595	0.80722	D	1	D	0.62365	0.991	P	0.57283	0.817	T	0.69910	-0.5017	10	0.56958	D	0.05	.	18.7276	0.91720	0.0:0.0:1.0:0.0	.	532	Q9H3R1	NDST4_HUMAN	S	532	ENSP00000264363:T532S	ENSP00000264363:T532S	T	-	2	0	NDST4	116011497	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	9.864000	0.99589	2.419000	0.82065	0.561000	0.74099	ACC		0.403	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569	
NDST3	9348	broad.mit.edu	37	4	118975673	118975673	+	Missense_Mutation	SNP	G	G	A	rs377531754		TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr4:118975673G>A	ENST00000296499.5	+	2	1011	c.608G>A	c.(607-609)cGt>cAt	p.R203H	NDST3_ENST00000433996.2_Missense_Mutation_p.R203H	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	203	Heparan sulfate N-deacetylase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CCATTGATTCGTGTGACCAAA	0.358																																						uc003ibx.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						c.(607-609)cGt>cAt		Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 (NDST3), mRNA.		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	121.0	124.0	123.0		608	-2.3	0.9	4		123	1,8597	1.2+/-3.3	0,1,4298	no	missense	NDST3	NM_004784.2	29	0,2,6500	AA,AG,GG		0.0116,0.0227,0.0154	benign	203/874	118975673	2,13002	2203	4299	6502	SO:0001583	missense	9348					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:118975673G>A	AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"""Sulfotransferases, membrane-bound"""	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.608G>A	4.37:g.118975673G>A	ENSP00000296499:p.Arg203His					NDST3_uc011cgf.1_Missense_Mutation_p.R203H|NDST3_uc003ibw.3_Missense_Mutation_p.R203H	p.R203H	NM_004784	NP_004775	O95803	NDST3_HUMAN			1	1011	+			203			Heparan sulfate N-deacetylase 3.		B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Missense_Mutation	SNP	ENST00000296499.5	37	c.608G>A	CCDS3708.1	.	.	.	.	.	.	.	.	.	.	G	6.135	0.393219	0.11638	2.27E-4	1.16E-4	ENSG00000164100	ENST00000296499;ENST00000433996	T;T	0.46063	1.22;0.88	5.07	-2.27	0.06846	.	0.268407	0.41712	N	0.000822	T	0.16854	0.0405	N	0.03983	-0.305	0.31168	N	0.703555	B;B;B	0.09022	0.001;0.0;0.002	B;B;B	0.06405	0.001;0.0;0.002	T	0.14924	-1.0455	10	0.23891	T	0.37	.	12.0683	0.53601	0.6079:0.0:0.3921:0.0	.	203;203;203	B4DI67;O95803;O95803-2	.;NDST3_HUMAN;.	H	203	ENSP00000296499:R203H;ENSP00000396625:R203H	ENSP00000296499:R203H	R	+	2	0	NDST3	119195121	0.000000	0.05858	0.900000	0.35374	0.916000	0.54674	-0.173000	0.09854	-0.434000	0.07275	-0.794000	0.03295	CGT		0.358	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256517.4	NM_004784	
ASB5	140458	broad.mit.edu	37	4	177190191	177190191	+	Silent	SNP	C	C	T			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr4:177190191C>T	ENST00000296525.3	-	1	182	c.69G>A	c.(67-69)tcG>tcA	p.S23S		NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	23					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		AACAGAACAGCGAAAGTATTG	0.433																																						uc003iuq.2																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34						c.(67-69)tcG>tcA		Homo sapiens ankyrin repeat and SOCS box containing 5 (ASB5), mRNA.							106.0	99.0	102.0					4																	177190191		2203	4300	6503	SO:0001819	synonymous_variant	140458				intracellular signal transduction			g.chr4:177190191C>T	AY057053	CCDS3827.1	4q34.1	2013-01-10	2011-01-25		ENSG00000164122	ENSG00000164122		"""Ankyrin repeat domain containing"""	17180	protein-coding gene	gene with protein product		615050	"""ankyrin repeat and SOCS box-containing 5"""				Standard	NM_080874		Approved		uc003iuq.2	Q8WWX0	OTTHUMG00000160793	ENST00000296525.3:c.69G>A	4.37:g.177190191C>T							p.S23S	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)	0	183	-		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	23					Q8N7B5	Silent	SNP	ENST00000296525.3	37	c.69G>A	CCDS3827.1																																																																																				0.433	ASB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362344.1		
PCDHA3	56145	broad.mit.edu	37	5	140182149	140182149	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr5:140182149C>T	ENST00000522353.2	+	1	1367	c.1367C>T	c.(1366-1368)tCg>tTg	p.S456L	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.S456L|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	456	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.S456L(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGGCATTCTCGCAGTCCGAG	0.672																																						uc003lhf.2																			2	Substitution - Missense(2)	p.S456L(2)	skin(2)	NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1366-1368)tCg>tTg		Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.							96.0	96.0	96.0					5																	140182149		2203	4300	6503	SO:0001583	missense	56145				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140182149C>T	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1367C>T	5.37:g.140182149C>T	ENSP00000429808:p.Ser456Leu					PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.S456L	p.S456L	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1367	+			470			Cadherin 4.		O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.1367C>T	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	c	7.270	0.607010	0.14002	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.61040	0.14;0.14	4.75	1.7	0.24286	Cadherin (3);Cadherin-like (1);	0.177585	0.26187	U	0.025824	T	0.44582	0.1300	L	0.33624	1.015	0.09310	N	1	B;B	0.28350	0.208;0.062	B;B	0.27170	0.077;0.01	T	0.32079	-0.9920	10	0.33141	T	0.24	.	13.7258	0.62756	0.5146:0.4854:0.0:0.0	.	456;456	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	L	456	ENSP00000429808:S456L;ENSP00000434086:S456L	ENSP00000429808:S456L	S	+	2	0	PCDHA3	140162333	0.000000	0.05858	0.862000	0.33874	0.314000	0.28054	-0.806000	0.04525	0.526000	0.28541	-0.492000	0.04666	TCG		0.672	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906	
PCDHB13	56123	broad.mit.edu	37	5	140595338	140595338	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr5:140595338G>A	ENST00000341948.4	+	1	1830	c.1643G>A	c.(1642-1644)cGc>cAc	p.R548H		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	548	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGCTGGTGCGCGTGGTGGTG	0.716																																						uc003lja.1																			0				NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66						c.(1642-1644)cGc>cAc		Homo sapiens protocadherin beta 13 (PCDHB13), mRNA.							34.0	39.0	37.0					5																	140595338		2202	4298	6500	SO:0001583	missense	56123				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140595338G>A	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1643G>A	5.37:g.140595338G>A	ENSP00000345491:p.Arg548His						p.R548H	NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	1830	+			548			Cadherin 5.		A8K9V6	Missense_Mutation	SNP	ENST00000341948.4	37	c.1643G>A	CCDS4255.1	.	.	.	.	.	.	.	.	.	.	-	14.62	2.591044	0.46214	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.01767	4.65	3.0	3.0	0.34707	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.01765	0.0056	N	0.25380	0.74	0.25078	N	0.990942	P	0.40875	0.731	B	0.37198	0.243	T	0.50890	-0.8774	9	0.59425	D	0.04	.	10.002	0.41935	0.0:0.0:0.7969:0.203	.	548	Q9Y5F0	PCDBD_HUMAN	H	548;548;494	ENSP00000345491:R548H	ENSP00000345491:R548H	R	+	2	0	PCDHB13	140575522	0.000000	0.05858	0.072000	0.20136	0.003000	0.03518	0.341000	0.19909	1.644000	0.50603	0.449000	0.29647	CGC		0.716	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933	
PRPF4B	8899	broad.mit.edu	37	6	4042762	4042762	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr6:4042762T>C	ENST00000337659.6	+	5	1710	c.1610T>C	c.(1609-1611)cTa>cCa	p.L537P	PRPF4B_ENST00000538861.1_Missense_Mutation_p.L523P	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	537					mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				GAAGAAGCCCTAATAGAACAG	0.313																																						uc003mvv.3																			0				breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22						c.(1609-1611)cTa>cCa		Homo sapiens PRP4 pre-mRNA processing factor 4 homolog B (yeast) (PRPF4B), mRNA.							80.0	85.0	83.0					6																	4042762		2203	4299	6502	SO:0001583	missense	8899					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:4042762T>C	U48736	CCDS4488.1	6p24.2	2013-10-03	2013-10-03		ENSG00000112739	ENSG00000112739			17346	protein-coding gene	gene with protein product		602338	"""PRP4 pre-mRNA processing factor 4 homolog B (yeast)"""			9628581, 11418604	Standard	XR_241936		Approved	Prp4, PR4H, KIAA0536	uc003mvv.3	Q13523	OTTHUMG00000014157	ENST00000337659.6:c.1610T>C	6.37:g.4042762T>C	ENSP00000337194:p.Leu537Pro					PRPF4B_uc003mvw.3_Non-coding_Transcript|PRPF4B_uc011dhv.1_Non-coding_Transcript	p.L537P	NM_003913	NP_003904	Q13523	PRP4B_HUMAN			4	1701	+	Ovarian(93;0.0925)	all_hematologic(90;0.0895)	537					A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	Missense_Mutation	SNP	ENST00000337659.6	37	c.1610T>C	CCDS4488.1	.	.	.	.	.	.	.	.	.	.	T	14.61	2.586513	0.46110	.	.	ENSG00000112739	ENST00000337659;ENST00000538861	T;T	0.69926	-0.43;-0.44	5.45	5.45	0.79879	.	0.549638	0.16181	N	0.225821	T	0.50973	0.1647	L	0.50333	1.59	0.45261	D	0.998264	B	0.30021	0.265	B	0.34180	0.177	T	0.58544	-0.7618	10	0.59425	D	0.04	.	11.5903	0.50941	0.1411:0.0:0.0:0.8589	.	537	Q13523	PRP4B_HUMAN	P	537;523	ENSP00000337194:L537P;ENSP00000439331:L523P	ENSP00000337194:L537P	L	+	2	0	PRPF4B	3987761	0.979000	0.34478	0.247000	0.24249	0.957000	0.61999	5.934000	0.70138	2.196000	0.70406	0.460000	0.39030	CTA		0.313	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314018.2		
OR2H1	26716	broad.mit.edu	37	6	29430141	29430141	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr6:29430141G>C	ENST00000377136.1	+	4	1060	c.595G>C	c.(595-597)Gtg>Ctg	p.V199L	OR2H1_ENST00000377132.1_Missense_Mutation_p.V199L|OR2H1_ENST00000396792.2_Missense_Mutation_p.V199L|OR2H1_ENST00000377133.1_Missense_Mutation_p.V199L|OR2H1_ENST00000473369.1_3'UTR|OR2H1_ENST00000442615.1_Missense_Mutation_p.V199L			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(5)|lung(12)	17						CCAGTTGGCTGTGTCCAGTGT	0.512																																						uc003nmi.3																			0				large_intestine(5)|lung(12)	17						c.(595-597)Gtg>Ctg		Homo sapiens olfactory receptor, family 2, subfamily H, member 1 (OR2H1), mRNA.							191.0	181.0	185.0					6																	29430141		1511	2709	4220	SO:0001583	missense	26716				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29430141G>C	AF044491	CCDS4660.1	6p22.1	2014-02-19	2002-02-28		ENSG00000204688	ENSG00000204688		"""GPCR / Class A : Olfactory receptors"""	8252	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily H, member 8"""	OR2H6, OR2H8			Standard	NM_030883		Approved	OR6-2	uc003nmi.3	Q9GZK4	OTTHUMG00000031050	ENST00000377136.1:c.595G>C	6.37:g.29430141G>C	ENSP00000366340:p.Val199Leu					OR2H1_uc003nmj.1_Missense_Mutation_p.V199L|OR2H1_uc010jri.2_Missense_Mutation_p.V121L|OR2H1_uc021ytr.1_Missense_Mutation_p.V199L	p.V199L	NM_030883	NP_112145	Q9GZK4	OR2H1_HUMAN			2	1038	+			199					B0S7T4|O43629|O43661|O43662|Q5SUN6|Q9GZK9	Missense_Mutation	SNP	ENST00000377136.1	37	c.595G>C	CCDS4660.1	.	.	.	.	.	.	.	.	.	.	G	4.657	0.122216	0.08931	.	.	ENSG00000204688	ENST00000377136;ENST00000377133;ENST00000442615;ENST00000377132;ENST00000396792	T;T;T;T;T	0.00193	8.58;8.58;8.58;8.58;8.58	3.09	0.915	0.19366	GPCR, rhodopsin-like superfamily (1);	0.221129	0.23016	N	0.052904	T	0.00073	0.0002	L	0.42487	1.325	0.09310	N	1	B	0.31790	0.34	B	0.39503	0.301	T	0.09552	-1.0669	10	0.51188	T	0.08	.	8.0148	0.30374	0.2494:0.0:0.7506:0.0	.	199	Q9GZK4	OR2H1_HUMAN	L	199	ENSP00000366340:V199L;ENSP00000366337:V199L;ENSP00000393254:V199L;ENSP00000366336:V199L;ENSP00000380010:V199L	ENSP00000366336:V199L	V	+	1	0	OR2H1	29538120	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.236000	0.17967	0.199000	0.20427	-0.199000	0.12753	GTG		0.512	OR2H1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194014.3		
DST	667	broad.mit.edu	37	6	56566691	56566691	+	Missense_Mutation	SNP	G	G	A	rs183558657		TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr6:56566691G>A	ENST00000361203.3	-	4	323	c.316C>T	c.(316-318)Cgc>Tgc	p.R106C	DST_ENST00000370769.4_Missense_Mutation_p.R106C|DST_ENST00000421834.2_Missense_Mutation_p.R106C|DST_ENST00000312431.6_Missense_Mutation_p.R106C|DST_ENST00000370754.5_Missense_Mutation_p.R284C|DST_ENST00000370788.2_Missense_Mutation_p.R106C			Q03001	DYST_HUMAN	dystonin	106	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CATACCTGGCGTCTTTTCAAA	0.343													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16317	0.0		0.0	False		,,,				2504	0.0					uc021zay.1																			0		p.E146K(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(436-438)Cgc>Tgc		Homo sapiens dystonin (DST), transcript variant 1e, mRNA.							86.0	78.0	80.0					6																	56566691		1815	4079	5894	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56566691G>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.316C>T	6.37:g.56566691G>A	ENSP00000354508:p.Arg106Cys					DST_uc011dxl.1_Missense_Mutation_p.R135C|DST_uc021zaz.1_Missense_Mutation_p.R106C	p.R146C	NM_001723	NP_001714	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		4	562	-	Lung NSC(77;0.103)		106			Actin-binding.		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.436C>T		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	16.22	3.062660	0.55432	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000421834;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000520645;ENST00000449297;ENST00000522538;ENST00000523817	D;D;D;D;D;D;D;D;D;D	0.94931	-3.56;-3.56;-3.56;-3.56;-3.56;-3.56;-3.56;-3.56;-3.56;-3.56	4.94	4.94	0.65067	Calponin homology domain (5);	0.121578	0.37348	N	0.002139	D	0.96288	0.8789	L	0.60845	1.875	0.37313	D	0.909193	D;D;D;D;D	0.89917	1.0;0.998;1.0;0.999;0.998	D;P;D;P;P	0.77004	0.989;0.881;0.989;0.881;0.881	D	0.96481	0.9356	9	0.87932	D	0	.	18.7006	0.91619	0.0:0.0:1.0:0.0	.	135;106;106;284;106	B4DGY0;Q5TBT1;E7ERU2;E9PEB9;Q03001	.;.;.;.;DYST_HUMAN	C	284;106;106;106;106;106;146;284;57;99	ENSP00000359790:R284C;ENSP00000359805:R106C;ENSP00000400883:R106C;ENSP00000307959:R106C;ENSP00000359824:R106C;ENSP00000354508:R106C;ENSP00000431030:R146C;ENSP00000393082:R284C;ENSP00000429075:R57C;ENSP00000429221:R99C	ENSP00000307959:R106C	R	-	1	0	DST	56674650	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.492000	0.66893	2.721000	0.93114	0.591000	0.81541	CGC		0.343	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723	
SASH1	23328	broad.mit.edu	37	6	148854037	148854037	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr6:148854037G>A	ENST00000367467.3	+	14	2144	c.1669G>A	c.(1669-1671)Ggg>Agg	p.G557R		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	557	SH3.				positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)	p.G557R(1)		breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CCCGTTCTGCGGGCGTGCCAG	0.582																																						uc003qme.1																			1	Substitution - Missense(1)	p.G557R(2)	large_intestine(1)	breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(1669-1671)Ggg>Agg		Homo sapiens SAM and SH3 domain containing 1 (SASH1), mRNA.							130.0	126.0	127.0					6																	148854037		2203	4300	6503	SO:0001583	missense	23328						protein binding	g.chr6:148854037G>A	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.1669G>A	6.37:g.148854037G>A	ENSP00000356437:p.Gly557Arg					SASH1_uc011eeb.1_Missense_Mutation_p.G318R|SASH1_uc003qmf.1_5'UTR	p.G557R	NM_015278	NP_056093	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	13	2144	+		Ovarian(120;0.0169)	557			SH3.		Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	ENST00000367467.3	37	c.1669G>A	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.779928	0.90195	.	.	ENSG00000111961	ENST00000367467;ENST00000535767	T	0.28454	1.61	4.86	4.86	0.63082	Src homology-3 domain (2);	0.000000	0.85682	D	0.000000	T	0.57681	0.2070	M	0.88775	2.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.66720	-0.5852	10	0.72032	D	0.01	-30.4101	18.2189	0.89895	0.0:0.0:1.0:0.0	.	538;557	Q6P4R9;O94885	.;SASH1_HUMAN	R	557;318	ENSP00000356437:G557R	ENSP00000356437:G557R	G	+	1	0	SASH1	148895730	1.000000	0.71417	0.998000	0.56505	0.618000	0.37518	9.208000	0.95075	2.537000	0.85549	0.655000	0.94253	GGG		0.582	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278	
GRM3	2913	broad.mit.edu	37	7	86415679	86415679	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr7:86415679G>A	ENST00000361669.2	+	3	1670	c.571G>A	c.(571-573)Gtg>Atg	p.V191M	GRM3_ENST00000536043.1_Missense_Mutation_p.V63M|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Missense_Mutation_p.V191M|AC005009.2_ENST00000418031.1_RNA|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000394720.2_Missense_Mutation_p.V189M	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	191					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					TGCCAGGACCGTGCCCCCCGA	0.567																																					GBM(52;969 1098 3139 52280)	uc003uid.3																			0				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(571-573)Gtg>Atg		Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	Acamprosate(DB00659)|Nicotine(DB00184)						119.0	111.0	114.0					7																	86415679		2203	4300	6503	SO:0001583	missense	2913				synaptic transmission	integral to plasma membrane		g.chr7:86415679G>A		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.571G>A	7.37:g.86415679G>A	ENSP00000355316:p.Val191Met					GRM3_uc010lef.3_Missense_Mutation_p.V189M|GRM3_uc010leg.3_Missense_Mutation_p.V63M|GRM3_uc010leh.3_Intron	p.V191M	NM_000840	NP_000831	Q14832	GRM3_HUMAN			2	1670	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		191					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.571G>A	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.647636	0.87958	.	.	ENSG00000198822	ENST00000361669;ENST00000454217;ENST00000536043;ENST00000439827;ENST00000394720	D;D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84;-1.84	5.72	5.72	0.89469	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.94059	0.8096	M	0.89968	3.075	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94697	0.7879	10	0.87932	D	0	.	18.8634	0.92281	0.0:0.0:1.0:0.0	.	63;191;191	F5GYZ2;G5E9K2;Q14832	.;.;GRM3_HUMAN	M	191;63;63;191;189	ENSP00000355316:V191M;ENSP00000405427:V63M;ENSP00000441407:V63M;ENSP00000398767:V191M;ENSP00000378209:V189M	ENSP00000355316:V191M	V	+	1	0	GRM3	86253615	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	9.756000	0.98918	2.711000	0.92665	0.655000	0.94253	GTG		0.567	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2		
MUC17	140453	broad.mit.edu	37	7	100678176	100678176	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr7:100678176C>G	ENST00000306151.4	+	3	3543	c.3479C>G	c.(3478-3480)aCt>aGt	p.T1160S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1160	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAGGAACCACTCCGTTAGCA	0.522																																						uc003uxp.1																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(3478-3480)aCt>aGt		Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.							390.0	334.0	353.0					7																	100678176		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100678176C>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.3479C>G	7.37:g.100678176C>G	ENSP00000302716:p.Thr1160Ser					MUC17_uc010lho.1_Non-coding_Transcript	p.T1160S	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			2	3532	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1160			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.3479C>G	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	1.742	-0.491343	0.04322	.	.	ENSG00000169876	ENST00000306151	T	0.02323	4.34	0.629	-1.26	0.09376	.	.	.	.	.	T	0.01835	0.0058	L	0.29908	0.895	0.09310	N	1	B	0.30851	0.297	B	0.19148	0.024	T	0.49234	-0.8961	9	0.15499	T	0.54	.	6.1325	0.20213	0.0:0.6809:0.3191:0.0	.	1160	Q685J3	MUC17_HUMAN	S	1160	ENSP00000302716:T1160S	ENSP00000302716:T1160S	T	+	2	0	MUC17	100464896	0.004000	0.15560	0.001000	0.08648	0.003000	0.03518	2.673000	0.46858	-0.374000	0.07967	0.134000	0.15878	ACT		0.522	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105	
PTPRZ1	5803	broad.mit.edu	37	7	121636615	121636615	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr7:121636615G>C	ENST00000393386.2	+	9	1519	c.1108G>C	c.(1108-1110)Gac>Cac	p.D370H	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.D370H	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	370	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TGGCTATCAAGACTTGGTAAC	0.338																																						uc003vjy.3																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(1108-1110)Gac>Cac		Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.							149.0	143.0	145.0					7																	121636615		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121636615G>C	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.1108G>C	7.37:g.121636615G>C	ENSP00000377047:p.Asp370His					PTPRZ1_uc011knt.2_Missense_Mutation_p.D370H|PTPRZ1_uc003vjz.3_Missense_Mutation_p.D370H	p.D370H	NM_002851	NP_002842	P23471	PTPRZ_HUMAN			8	1503	+			370			Fibronectin type-III.		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.1108G>C	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.813376	0.90790	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.57436	0.4;0.4	5.89	5.89	0.94794	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.66157	0.2761	L	0.32530	0.975	0.49687	D	0.999816	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.67381	-0.5685	10	0.87932	D	0	.	20.2576	0.98430	0.0:0.0:1.0:0.0	.	370;370	C9JFM0;P23471	.;PTPRZ_HUMAN	H	370	ENSP00000377047:D370H;ENSP00000410000:D370H	ENSP00000377047:D370H	D	+	1	0	PTPRZ1	121423851	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.209000	0.95087	2.783000	0.95769	0.655000	0.94253	GAC		0.338	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851	
EPHB6	2051	broad.mit.edu	37	7	142562429	142562430	+	Missense_Mutation	DNP	AA	AA	CC			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr7:142562429_142562430AA>CC	ENST00000392957.2	+	7	1658_1659	c.871_872AA>CC	c.(871-873)AAg>CCg	p.K291P	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Missense_Mutation_p.K291P	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	291	Cys-rich.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CGGGGAGGGCAAGTGGATGGTA	0.653																																						uc011kst.2																			0				NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87						c.(871-873)aag>CCg		Homo sapiens EPH receptor B6 (EPHB6), mRNA.																																				SO:0001583	missense	2051					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142562429_142562430AA>CC	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	Exception_encountered	7.37:g.142562429_142562430delinsCC	ENSP00000376684:p.Lys291Pro					EPHB6_uc011ksu.2_Missense_Mutation_p.K291P|EPHB6_uc003wbs.3_5'UTR|EPHB6_uc003wbt.3_5'UTR|EPHB6_uc003wbu.3_5'UTR|EPHB6_uc003wbv.3_5'Flank	p.K291P	NM_004445	NP_004436	O15197	EPHB6_HUMAN			6	1658_1659	+	Melanoma(164;0.059)		291			Cys-rich.		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	DNP	ENST00000392957.2	37	c.871_872AA>CC	CCDS5873.2																																																																																				0.653	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1		
SLCO5A1	81796	broad.mit.edu	37	8	70594493	70594493	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr8:70594493A>T	ENST00000260126.4	-	7	2414	c.1708T>A	c.(1708-1710)Tgt>Agt	p.C570S	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.C515S|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.C570S	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	570	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TCTGATCCACAGACTGGCTCA	0.428																																						uc003xyl.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(1708-1710)Tgt>Agt		Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.							184.0	158.0	167.0					8																	70594493		2203	4300	6503	SO:0001583	missense	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70594493A>T	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.1708T>A	8.37:g.70594493A>T	ENSP00000260126:p.Cys570Ser					SLCO5A1_uc010lzb.3_Missense_Mutation_p.C515S|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_Missense_Mutation_p.C570S	p.C570S	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		6	2415	-	Breast(64;0.0654)		570			Kazal-like.		A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	ENST00000260126.4	37	c.1708T>A	CCDS6205.1	.	.	.	.	.	.	.	.	.	.	A	28.5	4.928201	0.92389	.	.	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.31247	1.5;1.5;1.5	5.77	5.77	0.91146	Proteinase inhibitor I1, Kazal (1);Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Protease inhibitor, Kazal-type (1);	0.000000	0.85682	D	0.000000	T	0.72374	0.3452	H	0.98446	4.235	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.84230	0.0466	10	0.87932	D	0	.	16.1024	0.81184	1.0:0.0:0.0:0.0	.	515;570;570	E9PKK5;Q9H2Y9;G3V1C0	.;SO5A1_HUMAN;.	S	570;570;515	ENSP00000260126:C570S;ENSP00000434422:C570S;ENSP00000431611:C515S	ENSP00000260126:C570S	C	-	1	0	SLCO5A1	70757047	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.273000	0.95719	2.200000	0.70718	0.459000	0.35465	TGT		0.428	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958	
C9orf66	157983	broad.mit.edu	37	9	214614	214614	+	Silent	SNP	G	G	T			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr9:214614G>T	ENST00000382387.2	-	1	1279	c.783C>A	c.(781-783)ggC>ggA	p.G261G	DOCK8_ENST00000432829.2_5'Flank|DOCK8_ENST00000453981.1_5'Flank	NM_152569.2	NP_689782.2	Q5T8R8	CI066_HUMAN	chromosome 9 open reading frame 66	261	Arg-rich.									central_nervous_system(1)|cervix(1)|kidney(1)|skin(1)	4	all_lung(41;0.218)	all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GGAGCTTCCGGCCTGCGCGCA	0.711																																						uc003zge.4																			0				central_nervous_system(1)|cervix(1)|kidney(1)|skin(1)	4						c.(781-783)ggC>ggA		Homo sapiens chromosome 9 open reading frame 66 (C9orf66), mRNA.							20.0	21.0	21.0					9																	214614		2203	4299	6502	SO:0001819	synonymous_variant	157983							g.chr9:214614G>T	AK055720	CCDS6439.1	9p24.3	2008-02-05			ENSG00000183784	ENSG00000183784			26436	protein-coding gene	gene with protein product							Standard	NM_152569		Approved	FLJ31158	uc003zge.4	Q5T8R8	OTTHUMG00000021017	ENST00000382387.2:c.783C>A	9.37:g.214614G>T						DOCK8_uc011lls.1_5'Flank|DOCK8_uc003zgf.2_5'Flank	p.G261G	NM_152569	NP_689782	Q5T8R8	CI066_HUMAN	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)	0	1280	-	all_lung(41;0.218)	all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137)	261			Arg-rich.		Q96NB0	Silent	SNP	ENST00000382387.2	37	c.783C>A	CCDS6439.1																																																																																				0.711	C9orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055436.1	NM_152569	
SVEP1	79987	broad.mit.edu	37	9	113169426	113169426	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr9:113169426G>C	ENST00000401783.2	-	38	8790	c.8454C>G	c.(8452-8454)gaC>gaG	p.D2818E	SVEP1_ENST00000374469.1_Missense_Mutation_p.D2795E|SVEP1_ENST00000297826.5_Missense_Mutation_p.D744E	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2818	Sushi 23. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CCCAGTTTTTGTCATCCTGGC	0.512																																						uc010mtz.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(8452-8454)gaC>gaG		Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.							137.0	134.0	135.0					9																	113169426		2048	4198	6246	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113169426G>C	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.8454C>G	9.37:g.113169426G>C	ENSP00000384917:p.Asp2818Glu					SVEP1_uc010mty.3_Missense_Mutation_p.D744E	p.D2818E	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			37	8791	-			2818			Sushi 23.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.8454C>G	CCDS48004.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.889|1.889	-0.456026|-0.456026	0.04540|0.04540	.|.	.|.	ENSG00000165124|ENSG00000165124	ENST00000374463|ENST00000401783;ENST00000374469;ENST00000297826;ENST00000374463	.|T;T;T	.|0.67171	.|-0.25;-0.25;-0.25	5.58|5.58	1.3|1.3	0.21679|0.21679	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.298550	.|0.40818	.|N	.|0.001001	.|T	.|0.63010	.|0.2475	M|M	0.73753|0.73753	2.245|2.245	0.18873|0.18873	N|N	0.999989|0.999989	.|B	.|0.30824	.|0.296	.|B	.|0.33846	.|0.171	.|T	.|0.58674	.|-0.7595	.|10	.|0.59425	.|D	.|0.04	.|.	7.6803|7.6803	0.28509|0.28509	0.4904:0.0:0.5096:0.0|0.4904:0.0:0.5096:0.0	.|.	.|2818	.|Q4LDE5	.|SVEP1_HUMAN	.|E	-1|2818;2795;744;490	.|ENSP00000384917:D2818E;ENSP00000363593:D2795E;ENSP00000297826:D744E	.|ENSP00000297826:D744E	.|D	-|-	.|3	.|2	SVEP1|SVEP1	112209247|112209247	0.173000|0.173000	0.23056|0.23056	0.210000|0.210000	0.23637|0.23637	0.028000|0.028000	0.11728|0.11728	0.550000|0.550000	0.23345|0.23345	0.397000|0.397000	0.25310|0.25310	-0.469000|-0.469000	0.05056|0.05056	.|GAC		0.512	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
AK8	158067	broad.mit.edu	37	9	135702270	135702270	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr9:135702270T>G	ENST00000298545.3	-	8	1249	c.728A>C	c.(727-729)gAc>gCc	p.D243A	AK8_ENST00000477396.1_5'UTR	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	243	Adenylate kinase 1.				nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)	p.D243A(4)		NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						ACATGGCTGGTCAGCACTGAT	0.557																																						uc004cbu.1																			4	Substitution - Missense(4)	p.D243A(6)	prostate(2)|kidney(2)	NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						c.(727-729)gAc>gCc		Homo sapiens adenylate kinase 8 (AK8), mRNA.							166.0	141.0	149.0					9																	135702270		2203	4300	6503	SO:0001583	missense	158067					cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr9:135702270T>G	AK093446	CCDS6954.1	9q34.13	2013-04-29	2010-12-07	2010-12-07	ENSG00000165695	ENSG00000165695	2.7.4.3	"""Adenylate kinases"""	26526	protein-coding gene	gene with protein product		615365	"""chromosome 9 open reading frame 98"""	C9orf98		21080915	Standard	NM_152572		Approved	FLJ32704	uc004cbu.1	Q96MA6	OTTHUMG00000021009	ENST00000298545.3:c.728A>C	9.37:g.135702270T>G	ENSP00000298545:p.Asp243Ala					AK8_uc010mzx.1_Non-coding_Transcript|AK8_uc004cbv.1_Missense_Mutation_p.D39A	p.D243A	NM_152572	NP_689785	Q96MA6	KAD8_HUMAN			7	1284	-			243					A8K821|Q8N9W9	Missense_Mutation	SNP	ENST00000298545.3	37	c.728A>C	CCDS6954.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.102259	0.76983	.	.	ENSG00000165695	ENST00000298545	T	0.44881	0.91	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.61502	0.2352	M	0.68593	2.085	0.47949	D	0.999555	D	0.89917	1.0	D	0.74023	0.982	T	0.63567	-0.6608	10	0.51188	T	0.08	-38.791	14.1325	0.65263	0.0:0.0:0.0:1.0	.	243	Q96MA6	KAD8_HUMAN	A	243	ENSP00000298545:D243A	ENSP00000298545:D243A	D	-	2	0	AK8	134692091	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.044000	0.71012	1.938000	0.56188	0.379000	0.24179	GAC		0.557	AK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055413.1	NM_152572	
GPRASP2	114928	broad.mit.edu	37	X	101972203	101972203	+	Silent	SNP	T	T	C			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chrX:101972203T>C	ENST00000535209.1	+	4	3237	c.2406T>C	c.(2404-2406)gaT>gaC	p.D802D	GPRASP2_ENST00000543253.1_Silent_p.D802D|GPRASP2_ENST00000332262.5_Silent_p.D802D			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	802						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)			breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						TTGATGATGATTTCAGTCTTG	0.333																																						uc022cbh.1																			0											c.(2404-2406)gaT>gaC		Homo sapiens ARMCX5-GPRASP2 readthrough (ARMCX5-GPRASP2), mRNA.							123.0	131.0	128.0					X																	101972203		2202	4294	6496	SO:0001819	synonymous_variant	114928					cytoplasm	protein binding	g.chrX:101972203T>C	AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"""Armadillo repeat containing"""	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.2406T>C	X.37:g.101972203T>C						ARMCX5-GPRASP2_uc022cay.1_Silent_p.D802D|ARMCX5-GPRASP2_uc022cbe.1_Silent_p.D802D|ARMCX5-GPRASP2_uc004ejl.3_Silent_p.D802D|ARMCX5-GPRASP2_uc022cbf.1_Silent_p.D802D|ARMCX5-GPRASP2_uc022cbg.1_Silent_p.D802D|ARMCX5-GPRASP2_uc004ejm.3_Silent_p.D802D|ARMCX5-GPRASP2_uc004ejk.3_Silent_p.D802D	p.D802D	NM_001199818	NP_001186747	Q96D09	GASP2_HUMAN			0	2406	+			802					D3DXA0|Q8NAB4	Silent	SNP	ENST00000535209.1	37	c.2406T>C	CCDS14501.1																																																																																				0.333	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	NM_138437	
