#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
BRWD3	254065	broad.mit.edu	37	X	79999587	79999587	+	Missense_Mutation	SNP	T	T	C			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chrX:79999587T>C	ENST00000373275.4	-	8	973	c.757A>G	c.(757-759)Act>Gct	p.T253A		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	253					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GGTGCACAAGTTCGAAGACAC	0.403																																						ENST00000373275.4																			0				breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						c.(757-759)Act>Gct		bromodomain and WD repeat domain containing 3							137.0	116.0	123.0					X																	79999587		2203	4300	6503	SO:0001583	missense	254065							g.chrX:79999587T>C		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.757A>G	X.37:g.79999587T>C	ENSP00000362372:p.Thr253Ala						p.T253A	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN			8	973	-			253					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.757A>G	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	T	17.33	3.361755	0.61403	.	.	ENSG00000165288	ENST00000373275	T	0.22743	1.94	4.42	4.42	0.53409	WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);WD40-repeat-containing domain (1);	0.130388	0.49916	D	0.000125	T	0.21387	0.0515	L	0.53561	1.675	0.51482	D	0.999928	B	0.26975	0.165	B	0.27608	0.081	T	0.03503	-1.1030	9	.	.	.	-14.2273	13.2009	0.59767	0.0:0.0:0.0:1.0	.	253	Q6RI45	BRWD3_HUMAN	A	253	ENSP00000362372:T253A	.	T	-	1	0	BRWD3	79886243	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.106000	0.71511	1.757000	0.51966	0.339000	0.21740	ACT		0.403	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		15	9	0	0	0	1	0	15	9				
RWDD4	201965	broad.mit.edu	37	4	184572391	184572391	+	Silent	SNP	G	G	A			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr4:184572391G>A	ENST00000326397.5	-	3	467	c.195C>T	c.(193-195)aaC>aaT	p.N65N	RWDD4_ENST00000512740.1_Silent_p.N2N|RWDD4_ENST00000510968.1_Intron|RNU6-479P_ENST00000516348.1_RNA|RWDD4_ENST00000327570.9_Silent_p.N65N	NM_152682.2	NP_689895.2	Q6NW29	RWDD4_HUMAN	RWD domain containing 4	65	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.									large_intestine(2)|lung(4)|ovary(1)|prostate(1)	8						TAAAAAAAGCGTTCATAGATA	0.368																																						ENST00000326397.5																			0				large_intestine(2)|lung(4)|ovary(1)|prostate(1)	8						c.(193-195)aaC>aaT		RWD domain containing 4							137.0	133.0	135.0					4																	184572391		2203	4300	6503	SO:0001819	synonymous_variant	201965							g.chr4:184572391G>A	BC017472	CCDS34111.1	4q35.1	2012-12-07	2010-09-30	2010-09-30	ENSG00000182552	ENSG00000182552			23750	protein-coding gene	gene with protein product			"""family with sequence similarity 28, member A"", ""RWD domain containing 4A"""	FAM28A, RWDD4A			Standard	NM_152682		Approved	MGC10198	uc003ivt.1	Q6NW29	OTTHUMG00000160632	ENST00000326397.5:c.195C>T	4.37:g.184572391G>A						RWDD4_ENST00000512740.1_Silent_p.N2N|RWDD4_ENST00000327570.9_Silent_p.N65N|RWDD4_ENST00000510968.1_Intron	p.N65N	NM_152682.2	NP_689895.2	Q6NW29	RWDD4_HUMAN			3	467	-			65			RWD.		B2RDE9|B4DDP2|Q75LA9|Q8WVW2	Silent	SNP	ENST00000326397.5	37	c.195C>T	CCDS34111.1																																																																																				0.368	RWDD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361499.2	NM_152682		36	49	0	0	0	1	0	36	49				
RET	5979	broad.mit.edu	37	10	43609939	43609939	+	Missense_Mutation	SNP	G	G	T	rs377767436|rs377767406|rs377767435		TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr10:43609939G>T	ENST00000355710.3	+	11	2123	c.1891G>T	c.(1891-1893)Gac>Tac	p.D631Y	RET_ENST00000340058.5_Missense_Mutation_p.D631Y	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	631			D -> G (in thyroid carcinoma; somatic mutation; dbSNP:rs121913308).		activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.L629_D631>H(2)|p.D627_L633>E(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	TCCACTGTGCGACGAGCTGTG	0.622		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"""T, Mis, N, F"""	ret proto-oncogene	yes	Hirschsprung disease	"""E, O"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	CCDC6/RET(4)|KIF5B/RET(79)	3	Complex - deletion inframe(3)	p.L629_D631>H(2)|p.D627_L633>E(1)	thyroid(3)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607	GRCh37	CM005415	RET	M		c.(1891-1893)Gac>Tac		ret proto-oncogene	Sunitinib(DB01268)						113.0	72.0	85.0					10																	43609939		2203	4300	6503	SO:0001583	missense	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43609939G>T	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.1891G>T	10.37:g.43609939G>T	ENSP00000347942:p.Asp631Tyr					RET_ENST00000340058.5_Missense_Mutation_p.D631Y	p.D631Y	NM_020975.4	NP_066124.1	P07949	RET_HUMAN			11	2123	+		Ovarian(717;0.0423)	631		D -> G (in thyroid carcinoma; somatic mutation).			A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.1891G>T	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.847501	0.51164	.	.	ENSG00000165731	ENST00000355710;ENST00000498820;ENST00000340058	T;D;T	0.98889	-1.22;-5.21;-1.34	4.52	3.62	0.41486	.	0.138830	0.64402	D	0.000005	D	0.98770	0.9586	M	0.72479	2.2	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.964;0.987;0.996	D	0.99004	1.0812	10	0.54805	T	0.06	.	12.4484	0.55664	0.0807:0.0:0.9193:0.0	.	377;631;631	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	Y	631;148;631	ENSP00000347942:D631Y;ENSP00000419080:D148Y;ENSP00000344798:D631Y	ENSP00000344798:D631Y	D	+	1	0	RET	42929945	1.000000	0.71417	0.142000	0.22268	0.533000	0.34776	7.741000	0.84997	1.130000	0.42092	0.462000	0.41574	GAC		0.622	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		17	24	1	0	2.37509e-13	1	2.42787e-13	17	24				
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50.0	48.0	49.0					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"""High-mobility group / Canonical"""	5004	protein-coding gene	gene with protein product	"""non-histone chromosomal protein"""	300193	"""high-mobility group (nonhistone chromosomal) protein 4"", ""high-mobility group box 3"""	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		3	65	0	0	0	1	0	3	65				
ADCY10	55811	broad.mit.edu	37	1	167794084	167794084	+	Missense_Mutation	SNP	C	C	T	rs139094168		TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr1:167794084C>T	ENST00000367851.4	-	27	3944	c.3760G>A	c.(3760-3762)Gct>Act	p.A1254T	ADCY10_ENST00000367848.1_Missense_Mutation_p.A1162T|ADCY10_ENST00000545172.1_Missense_Mutation_p.A1101T	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1254					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TCTAGGTAAGCCTTAATGATC	0.463																																						ENST00000367848.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.(3484-3486)Gct>Act		adenylate cyclase 10 (soluble)							100.0	98.0	99.0					1																	167794084		2203	4300	6503	SO:0001583	missense	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167794084C>T	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.3760G>A	1.37:g.167794084C>T	ENSP00000356825:p.Ala1254Thr					ADCY10_ENST00000485964.1_5'UTR|ADCY10_ENST00000367851.4_Missense_Mutation_p.A1254T|ADCY10_ENST00000545172.1_Missense_Mutation_p.A1101T	p.A1162T			Q96PN6	ADCYA_HUMAN			27	3981	-			1254					B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	37	c.3484G>A	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.757207	0.69648	.	.	ENSG00000143199	ENST00000545172;ENST00000271426;ENST00000367851;ENST00000367848	T;T;T	0.34667	1.35;1.35;1.35	5.75	4.83	0.62350	.	0.000000	0.53938	D	0.000050	T	0.33614	0.0869	L	0.43757	1.38	0.31256	N	0.6934899999999999	D;D	0.65815	0.995;0.991	P;P	0.61940	0.896;0.79	T	0.16778	-1.0391	9	0.32370	T	0.25	-17.7296	12.1349	0.53966	0.1714:0.8286:0.0:0.0	.	1162;1254	Q96PN6-2;Q96PN6	.;ADCYA_HUMAN	T	1101;155;1254;1162	ENSP00000441992:A1101T;ENSP00000356825:A1254T;ENSP00000356822:A1162T	ENSP00000271426:A155T	A	-	1	0	ADCY10	166060708	0.540000	0.26410	1.000000	0.80357	0.980000	0.70556	0.987000	0.29603	1.415000	0.47037	-0.181000	0.13052	GCT		0.463	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		25	52	0	0	0	1	0	25	52				
MMP2	4313	broad.mit.edu	37	16	55527178	55527178	+	Missense_Mutation	SNP	G	G	A			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr16:55527178G>A	ENST00000219070.4	+	9	1954	c.1445G>A	c.(1444-1446)cGt>cAt	p.R482H	MMP2_ENST00000570308.1_Missense_Mutation_p.R406H|MMP2_ENST00000543485.1_Missense_Mutation_p.R406H|MMP2_ENST00000437642.2_Missense_Mutation_p.R432H	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	482	Required for inhibitor TIMP2 binding.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	GCTCAGATCCGTGGTGAGATC	0.532																																						ENST00000219070.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58						c.(1444-1446)cGt>cAt		matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	Marimastat(DB00786)|Sulindac(DB00605)						217.0	198.0	205.0					16																	55527178		2198	4300	6498	SO:0001583	missense	4313				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:55527178G>A		CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"""matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)"", ""matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"""	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.1445G>A	16.37:g.55527178G>A	ENSP00000219070:p.Arg482His					MMP2_ENST00000570308.1_Missense_Mutation_p.R406H|MMP2_ENST00000543485.1_Missense_Mutation_p.R406H|MMP2_ENST00000437642.2_Missense_Mutation_p.R432H	p.R482H	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	9	1954	+		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)	482			Hemopexin-like 1.|Required for inhibitor TIMP2 binding.		B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Missense_Mutation	SNP	ENST00000219070.4	37	c.1445G>A	CCDS10752.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.489611	0.84962	.	.	ENSG00000087245	ENST00000219070;ENST00000543485;ENST00000437642	T;T;T	0.10382	2.88;2.88;2.88	5.11	5.11	0.69529	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.47284	0.1437	H	0.96398	3.815	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.66716	0.849;0.946	T	0.65479	-0.6158	10	0.59425	D	0.04	.	18.5345	0.91004	0.0:0.0:1.0:0.0	.	432;482	E9PE45;P08253	.;MMP2_HUMAN	H	482;406;432	ENSP00000219070:R482H;ENSP00000444143:R406H;ENSP00000394237:R432H	ENSP00000219070:R482H	R	+	2	0	MMP2	54084679	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	5.699000	0.68310	2.389000	0.81357	0.563000	0.77884	CGT		0.532	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3			48	105	0	0	0	1	0	48	105				
CARD18	59082	broad.mit.edu	37	11	105009793	105009793	+	Missense_Mutation	SNP	C	C	T	rs200342430		TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr11:105009793C>T	ENST00000530950.1	-	2	19	c.20G>A	c.(19-21)cGt>cAt	p.R7H	CARD18_ENST00000526823.1_5'UTR|CARD18_ENST00000532895.1_5'UTR	NM_021571.3	NP_067546.1	P57730	CAR18_HUMAN	caspase recruitment domain family, member 18	7	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				inflammatory response (GO:0006954)|regulation of apoptotic process (GO:0042981)		cysteine-type endopeptidase inhibitor activity (GO:0004869)			central_nervous_system(1)|ovary(1)	2						TCTCTTTTTACGCAAGAGTTG	0.378													c|||	1	0.000199681	0.0008	0.0	5008	,	,		21676	0.0		0.0	False		,,,				2504	0.0					ENST00000530950.1																			0				central_nervous_system(1)|ovary(1)	2						c.(19-21)cGt>cAt		caspase recruitment domain family, member 18			HIS/ARG	2,3694		0,2,1846	107.0	94.0	98.0		20	-5.3	0.0	11		98	0,8210		0,0,4105	yes	missense	CARD18	NM_021571.3	29	0,2,5951	TT,TC,CC		0.0,0.0541,0.0168	probably-damaging	7/91	105009793	2,11904	1848	4105	5953	SO:0001583	missense	59082				inflammatory response|regulation of apoptosis	intracellular	cysteine-type endopeptidase inhibitor activity	g.chr11:105009793C>T	AY358231	CCDS53705.1	11q22.3	2008-09-02				ENSG00000255501			28861	protein-coding gene	gene with protein product		605354				11051551	Standard	NM_021571		Approved	UNQ5804, ICEBERG, pseudo-ICE	uc021qpy.1	P57730		ENST00000530950.1:c.20G>A	11.37:g.105009793C>T	ENSP00000436691:p.Arg7His					CARD18_ENST00000532895.1_5'UTR|CARD18_ENST00000526823.1_5'UTR	p.R7H	NM_021571.3	NP_067546.1	P57730	CAR18_HUMAN			2	19	-			7			CARD.		A2RRF8	Missense_Mutation	SNP	ENST00000530950.1	37	c.20G>A	CCDS53705.1	.	.	.	.	.	.	.	.	.	.	.	0.053	-1.245739	0.01481	5.41E-4	0.0	ENSG00000255501	ENST00000530950	T	0.23754	1.89	2.63	-5.26	0.02772	DEATH-like (2);Caspase Recruitment (3);	0.640881	0.13227	U	0.403955	T	0.26882	0.0658	.	.	.	0.09310	N	0.999999	D	0.58620	0.983	P	0.56700	0.804	T	0.13202	-1.0518	9	0.40728	T	0.16	.	0.8843	0.01241	0.3726:0.1507:0.1116:0.3651	.	7	P57730	CAR18_HUMAN	H	7	ENSP00000436691:R7H	ENSP00000436691:R7H	R	-	2	0	CARD18	104515003	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.698000	0.00826	-3.146000	0.00232	-3.850000	0.00018	CGT		0.378	CARD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388183.2	NM_021571		6	55	0	0	0	1	0	6	55				
WNT3	7473	broad.mit.edu	37	17	44847186	44847186	+	Missense_Mutation	SNP	G	G	A			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr17:44847186G>A	ENST00000225512.5	-	3	713	c.551C>T	c.(550-552)tCg>tTg	p.S184L		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3	184					anterior/posterior axis specification (GO:0009948)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell fate commitment (GO:0045165)|cell morphogenesis (GO:0000902)|cellular response to retinoic acid (GO:0071300)|dorsal/ventral axis specification (GO:0009950)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|gamete generation (GO:0007276)|head morphogenesis (GO:0060323)|limb bud formation (GO:0060174)|mammary gland epithelium development (GO:0061180)|mesoderm formation (GO:0001707)|negative regulation of axon extension involved in axon guidance (GO:0048843)|neuron differentiation (GO:0030182)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of gene expression (GO:0010628)|Spemann organizer formation at the anterior end of the primitive streak (GO:0060064)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GTTCATGGCCGAGCGCGCGTC	0.687																																						ENST00000225512.5																			0				endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13						c.(550-552)tCg>tTg		wingless-type MMTV integration site family, member 3							38.0	35.0	36.0					17																	44847186		2202	4299	6501	SO:0001583	missense	7473				canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity	g.chr17:44847186G>A	AY009397	CCDS11505.1	17q21-q22	2013-02-28				ENSG00000108379		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12782	protein-coding gene	gene with protein product	"""WNT-3 proto-oncogene protein"""	165330		INT4		8244403	Standard	NM_030753		Approved	MGC131950, MGC138321, MGC138323	uc002ikv.3	P56703		ENST00000225512.5:c.551C>T	17.37:g.44847186G>A	ENSP00000225512:p.Ser184Leu						p.S184L	NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0257)		3	713	-			184					Q2M237|Q9H1J9	Missense_Mutation	SNP	ENST00000225512.5	37	c.551C>T	CCDS11505.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411829	0.83340	.	.	ENSG00000108379	ENST00000225512	T	0.76186	-1.0	4.49	4.49	0.54785	.	0.136851	0.51477	D	0.000083	T	0.73225	0.3560	L	0.56340	1.77	0.80722	D	1	P	0.46578	0.88	P	0.44561	0.453	T	0.73563	-0.3943	10	0.32370	T	0.25	.	17.3636	0.87358	0.0:0.0:1.0:0.0	.	184	P56703	WNT3_HUMAN	L	184	ENSP00000225512:S184L	ENSP00000225512:S184L	S	-	2	0	WNT3	42202354	1.000000	0.71417	0.987000	0.45799	0.945000	0.59286	7.627000	0.83176	2.330000	0.79161	0.561000	0.74099	TCG		0.687	WNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440427.1	NM_030753		3	43	0	0	0	1	0	3	43				
CASP2	835	broad.mit.edu	37	7	142985577	142985577	+	Missense_Mutation	SNP	C	C	T			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr7:142985577C>T	ENST00000310447.5	+	1	270	c.29C>T	c.(28-30)tCc>tTc	p.S10F	RN7SL535P_ENST00000479087.2_RNA|CASP2_ENST00000392925.2_Missense_Mutation_p.S10F|AC073342.12_ENST00000446192.1_RNA|AC073342.12_ENST00000427392.1_RNA	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN	caspase 2, apoptosis-related cysteine peptidase	10					aging (GO:0007568)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|ectopic germ cell programmed cell death (GO:0035234)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|luteolysis (GO:0001554)|neural retina development (GO:0003407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron apoptotic process (GO:0043525)|protein processing (GO:0016485)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(164;0.059)					GGGTCTTGGTCCACCTTCCAG	0.677																																						ENST00000310447.5																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21						c.(28-30)tCc>tTc		caspase 2, apoptosis-related cysteine peptidase							34.0	39.0	37.0					7																	142985577		2202	4300	6502	SO:0001583	missense	835				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage	cytosol	cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding	g.chr7:142985577C>T	AK096245, BC002427, BM998653, BX537669, CB988674, U13021	CCDS5879.1, CCDS47733.1	7q34-q35	2014-01-20	2008-08-01		ENSG00000106144	ENSG00000106144		"""Caspases"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1503	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 57"""	600639	"""neural precursor cell expressed, developmentally down-regulated 2"""	NEDD2		7789948, 8780721	Standard	NM_032982		Approved	ICH1, PPP1R57, MGC2181	uc003wco.3	P42575	OTTHUMG00000023641	ENST00000310447.5:c.29C>T	7.37:g.142985577C>T	ENSP00000312664:p.Ser10Phe					CASP2_ENST00000392925.2_Missense_Mutation_p.S10F	p.S10F	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN			1	270	+	Melanoma(164;0.059)		10					A8K5F9|D3DXD6|E9PDN0|P42576|Q59F21|Q7KZL6|Q86UJ3|Q9BUP7|Q9BZK9|Q9BZL0	Missense_Mutation	SNP	ENST00000310447.5	37	c.29C>T	CCDS5879.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.121309	0.37436	.	.	ENSG00000106144	ENST00000310447;ENST00000392925	T;T	0.51574	4.49;0.7	4.29	3.4	0.38934	.	1.893230	0.02803	N	0.123411	T	0.37544	0.1007	N	0.19112	0.55	0.09310	N	1	B;B	0.14805	0.011;0.005	B;B	0.09377	0.004;0.002	T	0.24404	-1.0161	10	0.42905	T	0.14	.	9.3755	0.38281	0.2128:0.7872:0.0:0.0	.	10;10	E9PDN0;P42575	.;CASP2_HUMAN	F	10	ENSP00000312664:S10F;ENSP00000376656:S10F	ENSP00000312664:S10F	S	+	2	0	CASP2	142695699	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	1.237000	0.32695	1.024000	0.39682	0.650000	0.86243	TCC		0.677	CASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059962.3	NM_032982		12	20	0	0	0	1	0	12	20				
FRG1B	284802	broad.mit.edu	37	20	29628278	29628278	+	Missense_Mutation	SNP	G	G	A			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr20:29628278G>A	ENST00000278882.3	+	6	660	c.280G>A	c.(280-282)Gca>Aca	p.A94T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A99T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A94T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	94										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGCAATGAAGCAGGGGACAT	0.373																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(280-282)Gca>Aca																																						SO:0001583	missense	284802							g.chr20:29628278G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.280G>A	20.37:g.29628278G>A	ENSP00000278882:p.Ala94Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.A94T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A99T	p.A94T							6	660	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.280G>A		.	.	.	.	.	.	.	.	.	.	g	9.994	1.231660	0.22626	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.44083	0.93	2.08	2.08	0.27032	Actin cross-linking (1);	0.286587	0.39083	N	0.001478	T	0.22898	0.0553	.	.	.	0.21290	N	0.99973	B;B	0.12630	0.0;0.006	B;B	0.12156	0.002;0.007	T	0.15407	-1.0438	9	0.16420	T	0.52	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	99;94	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	T	94;99;94	ENSP00000408863:A99T	ENSP00000278882:A94T	A	+	1	0	FRG1B	28241939	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.196000	0.58407	1.475000	0.48197	0.423000	0.28283	GCA		0.373	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	112	0	0	0	1	0	4	112				
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs571530750	byFrequency	TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr6:26422353C>T	ENST00000466808.2	+	0	7							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622													C|||	7	0.00139776	0.0023	0.0	5008	,	,		16376	0.001		0.0	False		,,,				2504	0.0031					ENST00000466808.2																			2	Substitution - Missense(2)	p.P3S(2)	endometrium(1)|kidney(1)																																																54718							g.chr6:26422353C>T	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26422353C>T														0	7	+								A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.622	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		4	84	0	0	0	1	0	4	84				
MCOLN2	255231	broad.mit.edu	37	1	85431293	85431293	+	Missense_Mutation	SNP	C	C	A			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr1:85431293C>A	ENST00000370608.3	-	2	243	c.176G>T	c.(175-177)aGa>aTa	p.R59I	MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Missense_Mutation_p.R31I	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	59					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		AATCTGGCGTCTGGCTCGGTA	0.413																																						ENST00000370608.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(175-177)aGa>aTa		mucolipin 2							104.0	104.0	104.0					1																	85431293		2203	4300	6503	SO:0001583	missense	255231					integral to membrane	ion channel activity	g.chr1:85431293C>A	AK094010	CCDS30762.1	1p22	2011-12-16			ENSG00000153898	ENSG00000153898		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13357	protein-coding gene	gene with protein product		607399				16382100	Standard	XM_005270719		Approved	TRPML2, FLJ36691, TRP-ML2	uc001dkm.3	Q8IZK6	OTTHUMG00000009954	ENST00000370608.3:c.176G>T	1.37:g.85431293C>A	ENSP00000359640:p.Arg59Ile					MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Missense_Mutation_p.R31I	p.R59I	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN		all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)	2	243	-			59					A6NI99|Q2M3I6|Q5TAG5|Q8N9R3	Missense_Mutation	SNP	ENST00000370608.3	37	c.176G>T	CCDS30762.1	.	.	.	.	.	.	.	.	.	.	C	34	5.313115	0.95655	.	.	ENSG00000153898	ENST00000370608;ENST00000284027	T;T	0.60424	0.19;0.19	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.76321	0.3971	M	0.81942	2.565	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.76857	-0.2804	10	0.72032	D	0.01	-24.5202	20.5827	0.99408	0.0:1.0:0.0:0.0	.	59	Q8IZK6	MCLN2_HUMAN	I	59;31	ENSP00000359640:R59I;ENSP00000284027:R31I	ENSP00000284027:R31I	R	-	2	0	MCOLN2	85203881	1.000000	0.71417	0.990000	0.47175	0.863000	0.49368	7.386000	0.79775	2.941000	0.99782	0.655000	0.94253	AGA		0.413	MCOLN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027567.2	NM_153259		3	29	1	0	0.115264	1	0.115264	3	29				
MSLN	10232	broad.mit.edu	37	16	816649	816649	+	Silent	SNP	T	T	G			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr16:816649T>G	ENST00000382862.3	+	13	1331	c.1236T>G	c.(1234-1236)ccT>ccG	p.P412P	MSLN_ENST00000563941.1_Intron|MSLN_ENST00000566549.1_Intron|MSLN_ENST00000545450.2_Intron	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin	412					cell adhesion (GO:0007155)|pancreas development (GO:0031016)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				ACAAGGCTCCTCGGCGGCCCC	0.637																																						ENST00000382862.3																			0				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20						c.(1234-1236)ccT>ccG		mesothelin							51.0	57.0	55.0					16																	816649		2186	4283	6469	SO:0001819	synonymous_variant	10232				cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane		g.chr16:816649T>G	U40434	CCDS32356.1, CCDS45370.1	16p13.3	2008-04-16			ENSG00000102854	ENSG00000102854			7371	protein-coding gene	gene with protein product		601051				7665620, 8552591	Standard	NM_005823		Approved	CAK1, MPF	uc002cjw.2	Q13421	OTTHUMG00000047992	ENST00000382862.3:c.1236T>G	16.37:g.816649T>G						MSLN_ENST00000563941.1_Intron|MSLN_ENST00000545450.2_Intron|MSLN_ENST00000566549.1_Intron	p.P412P	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN			13	1331	+		Hepatocellular(780;0.00335)	412					D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Silent	SNP	ENST00000382862.3	37	c.1236T>G	CCDS32356.1																																																																																				0.637	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109253.2			17	115	0	0	0	1	0	17	115				
TBC1D10C	374403	broad.mit.edu	37	11	67177213	67177213	+	Missense_Mutation	SNP	C	C	G			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr11:67177213C>G	ENST00000542590.1	+	9	1343	c.1329C>G	c.(1327-1329)gaC>gaG	p.D443E	TBC1D10C_ENST00000312390.5_Missense_Mutation_p.D443E|TBC1D10C_ENST00000526387.1_3'UTR			Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	443	Interaction with calcineurin.				retrograde transport, endosome to Golgi (GO:0042147)	filopodium membrane (GO:0031527)|membrane (GO:0016020)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CCTTCCTGGACACCCGCTTCT	0.647																																						ENST00000312390.5																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16						c.(1327-1329)gaC>gaG		TBC1 domain family, member 10C							14.0	17.0	16.0					11																	67177213		1892	3976	5868	SO:0001583	missense	374403					intracellular	Rab GTPase activator activity	g.chr11:67177213C>G	BC035630	CCDS8162.1, CCDS58150.1	11q13.1	2013-07-09			ENSG00000175463	ENSG00000175463			24702	protein-coding gene	gene with protein product		610831				17230191, 20404108	Standard	NM_001256508		Approved	FLJ00332, Carabin, EPI64C	uc001ola.4	Q8IV04	OTTHUMG00000167139	ENST00000542590.1:c.1329C>G	11.37:g.67177213C>G	ENSP00000443654:p.Asp443Glu					TBC1D10C_ENST00000526387.1_3'UTR|TBC1D10C_ENST00000542590.1_Missense_Mutation_p.D443E	p.D443E	NM_198517.3	NP_940919.1	Q8IV04	TB10C_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		10	1358	+			443			Interaction with calcineurin.		G3V1D6	Missense_Mutation	SNP	ENST00000542590.1	37	c.1329C>G	CCDS8162.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.392781	0.42410	.	.	ENSG00000175463	ENST00000312390;ENST00000542590	T;T	0.08634	3.07;3.07	4.67	3.73	0.42828	.	0.000000	0.49305	D	0.000159	T	0.07548	0.0190	L	0.44542	1.39	0.28292	N	0.923494	B	0.23316	0.083	B	0.19666	0.026	T	0.17077	-1.0381	10	0.33141	T	0.24	.	7.8674	0.29545	0.0:0.8813:0.0:0.1186	.	443	Q8IV04	TB10C_HUMAN	E	443	ENSP00000310193:D443E;ENSP00000443654:D443E	ENSP00000310193:D443E	D	+	3	2	TBC1D10C	66933789	0.035000	0.19736	1.000000	0.80357	0.961000	0.63080	0.107000	0.15375	1.143000	0.42306	0.455000	0.32223	GAC		0.647	TBC1D10C-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395492.2	NM_198517		5	17	0	0	0	1	0	5	17				
TNKS	8658	broad.mit.edu	37	8	9627729	9627729	+	Missense_Mutation	SNP	A	A	G			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr8:9627729A>G	ENST00000310430.6	+	26	3880	c.3854A>G	c.(3853-3855)aAt>aGt	p.N1285S	TNKS_ENST00000518281.1_Missense_Mutation_p.N1048S	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	1285	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		CCGAGCGTCAATGGGCTGGCA	0.473																																						ENST00000310430.6																			0				NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49						c.(3853-3855)aAt>aGt		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase							80.0	68.0	72.0					8																	9627729		2203	4299	6502	SO:0001583	missense	8658				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	g.chr8:9627729A>G	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.3854A>G	8.37:g.9627729A>G	ENSP00000311579:p.Asn1285Ser					TNKS_ENST00000518281.1_Missense_Mutation_p.N1048S	p.N1285S	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN		COAD - Colon adenocarcinoma(149;0.0467)	26	3880	+			1285			PARP catalytic.		O95272|Q4G0F2	Missense_Mutation	SNP	ENST00000310430.6	37	c.3854A>G	CCDS5974.1	.	.	.	.	.	.	.	.	.	.	A	13.40	2.226964	0.39399	.	.	ENSG00000173273	ENST00000310430;ENST00000518281;ENST00000517770	T;T;T	0.12984	2.63;2.63;2.65	5.18	5.18	0.71444	Poly(ADP-ribose) polymerase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.15176	0.0366	L	0.44542	1.39	0.80722	D	1	B	0.27229	0.172	B	0.27500	0.08	T	0.02553	-1.1142	10	0.56958	D	0.05	.	15.3416	0.74303	1.0:0.0:0.0:0.0	.	1285	O95271	TNKS1_HUMAN	S	1285;1048;30	ENSP00000311579:N1285S;ENSP00000429890:N1048S;ENSP00000428185:N30S	ENSP00000311579:N1285S	N	+	2	0	TNKS	9665139	1.000000	0.71417	1.000000	0.80357	0.181000	0.23173	9.277000	0.95755	2.098000	0.63641	0.533000	0.62120	AAT		0.473	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747		16	33	0	0	0	1	0	16	33				
FBXO15	201456	broad.mit.edu	37	18	71740825	71740825	+	Silent	SNP	G	G	A	rs367718529	byFrequency	TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr18:71740825G>A	ENST00000419743.2	-	10	1483	c.1404C>T	c.(1402-1404)taC>taT	p.Y468Y	FBXO15_ENST00000269500.5_Silent_p.Y392Y|FBXO15_ENST00000580806.1_5'UTR	NM_001142958.1	NP_001136430.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	468						SCF ubiquitin ligase complex (GO:0019005)				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		CCGCATCAACGTAGTCCACGT	0.502													g|||	13	0.00259585	0.0	0.0	5008	,	,		19032	0.0		0.0	False		,,,				2504	0.0133					ENST00000269500.5																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(1174-1176)taC>taT		F-box protein 15			,	0,4406		0,0,2203	248.0	232.0	238.0		1404,1176	1.0	0.0	18		238	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	FBXO15	NM_001142958.1,NM_152676.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	468/511,392/435	71740825	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	201456							g.chr18:71740825G>A	AK094215	CCDS45884.1	18q22.3	2006-03-09	2004-06-15		ENSG00000141665	ENSG00000141665		"""F-boxes /  ""other"""""	13617	protein-coding gene	gene with protein product		609093	"""F-box only protein 15"""			12665572	Standard	NM_152676		Approved	MGC39671, FBX15	uc002llf.2	Q8NCQ5	OTTHUMG00000132842	ENST00000419743.2:c.1404C>T	18.37:g.71740825G>A						FBXO15_ENST00000580806.1_5'UTR|FBXO15_ENST00000419743.2_Silent_p.Y468Y	p.Y392Y	NM_152676.2	NP_689889.1	Q8NCQ5	FBX15_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.143)	10	1511	-		Esophageal squamous(42;0.103)|Prostate(75;0.173)	392					B3KST3	Silent	SNP	ENST00000419743.2	37	c.1176C>T	CCDS45884.1																																																																																				0.502	FBXO15-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000444223.1	NM_152676		5	183	0	0	0	1	0	5	183				
WHAMMP3	339005	broad.mit.edu	37	15	23205094	23205094	+	RNA	SNP	G	G	A			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr15:23205094G>A	ENST00000400153.2	-	0	760					NR_003521.1		Q1A5X7	WHAL1_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 3																		AGTACTGGAAGAACGTGGTTG	0.373																																						ENST00000400153.2																			0																																																			339005							g.chr15:23205094G>A	BC048987		15q11.2	2014-03-20	2011-06-24	2011-06-24	ENSG00000187667	ENSG00000276141			27892	pseudogene	pseudogene			"""WAS protein homology region 2 domain containing 1-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1 (pseudogene)"""	WHDC1L1, WHAMML1		18226259	Standard	NR_003521		Approved		uc001yvg.3	Q1A5X7	OTTHUMG00000171921		15.37:g.23205094G>A								NR_003521.1						0	760	-								Q1A5X8|Q52M16|Q52M18	RNA	SNP	ENST00000400153.2	37																																																																																						0.373	WHAMMP3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415907.1	NR_003521		3	20	0	0	0	1	0	3	20				
PLXNB1	5364	broad.mit.edu	37	3	48445926	48445926	+	Silent	SNP	T	T	C	rs371837904		TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr3:48445926T>C	ENST00000358536.4	-	38	6644	c.6375A>G	c.(6373-6375)gcA>gcG	p.A2125A	PLXNB1_ENST00000448774.2_Silent_p.A736A|PLXNB1_ENST00000358459.4_Silent_p.A1942A|PLXNB1_ENST00000456774.1_Silent_p.A1942A|PLXNB1_ENST00000296440.6_Silent_p.A2125A	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	2125					axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCACAGCAGCTGCAATCTGCT	0.587													T|||	1	0.000199681	0.0008	0.0	5008	,	,		18123	0.0		0.0	False		,,,				2504	0.0					ENST00000358536.4																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(6373-6375)gcA>gcG		plexin B1		T	,	1,4405	2.1+/-5.4	0,1,2202	56.0	54.0	54.0		6375,6375	-8.8	0.9	3		54	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PLXNB1	NM_001130082.1,NM_002673.4	,	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	,	2125/2136,2125/2136	48445926	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5364				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	g.chr3:48445926T>C	X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.6375A>G	3.37:g.48445926T>C						PLXNB1_ENST00000358459.4_Silent_p.A1942A|PLXNB1_ENST00000448774.2_Silent_p.A736A|PLXNB1_ENST00000456774.1_Silent_p.A1942A|PLXNB1_ENST00000296440.6_Silent_p.A2125A	p.A2125A	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	38	6644	-			2125					A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Silent	SNP	ENST00000358536.4	37	c.6375A>G	CCDS2765.1																																																																																				0.587	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		3	23	0	0	0	1	0	3	23				
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	lincRNA	SNP	C	C	T			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269																																						ENST00000423385.1																			0																																																			0							g.chr1:142803543C>T																													1.37:g.142803543C>T														0	1422	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.269	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			4	157	0	0	0	1	0	4	157				
FRG1B	284802	broad.mit.edu	37	20	29628299	29628299	+	Missense_Mutation	SNP	A	A	G			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr20:29628299A>G	ENST00000278882.3	+	6	681	c.301A>G	c.(301-303)Agt>Ggt	p.S101G	FRG1B_ENST00000439954.2_Missense_Mutation_p.S106G|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	101										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AGAAGCAAAAAGTAAAACAGC	0.363																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(301-303)Agt>Ggt																																						SO:0001583	missense	284802							g.chr20:29628299A>G			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.301A>G	20.37:g.29628299A>G	ENSP00000278882:p.Ser101Gly					FRG1B_ENST00000358464.4_Missense_Mutation_p.S101G|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106G	p.S101G							6	681	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.301A>G		.	.	.	.	.	.	.	.	.	.	a	16.61	3.170807	0.57584	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50001	0.76	2.08	2.08	0.27032	Actin cross-linking (1);	0.125588	0.64402	D	0.000001	T	0.38719	0.1051	.	.	.	0.42178	D	0.991671	B;P	0.36483	0.147;0.555	B;B	0.37731	0.138;0.257	T	0.38178	-0.9673	9	0.62326	D	0.03	.	8.0833	0.30758	1.0:0.0:0.0:0.0	.	106;101	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	G	101;106;101	ENSP00000408863:S106G	ENSP00000278882:S101G	S	+	1	0	FRG1B	28241960	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	8.085000	0.89518	1.208000	0.43306	0.347000	0.21830	AGT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	89	0	0	0	1	0	5	89				
GJA5	2702	broad.mit.edu	37	1	147230307	147230307	+	Missense_Mutation	SNP	G	G	A			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr1:147230307G>A	ENST00000271348.2	-	2	1201	c.1040C>T	c.(1039-1041)gCc>gTc	p.A347V	RP11-433J22.2_ENST00000428911.1_RNA|GJA5_ENST00000369237.1_Missense_Mutation_p.A347V	NM_005266.5	NP_005257.2	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	347					angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|atrial cardiac muscle cell action potential (GO:0086014)|atrial septum development (GO:0003283)|AV node cell to bundle of His cell communication by electrical coupling (GO:0086053)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|gap junction assembly (GO:0016264)|mitral valve development (GO:0003174)|outflow tract morphogenesis (GO:0003151)|pulmonary valve formation (GO:0003193)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|transmembrane transport (GO:0055085)|ventricular septum development (GO:0003281)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)	gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling (GO:0086077)|gap junction channel activity involved in cardiac conduction electrical coupling (GO:0086075)|gap junction hemi-channel activity (GO:0055077)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			CTTGCTGCTGGCCTTACTAAG	0.542																																						ENST00000271348.2																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20						c.(1039-1041)gCc>gTc		gap junction protein, alpha 5, 40kDa							114.0	104.0	108.0					1																	147230307		2203	4300	6503	SO:0001583	missense	2702				angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane		g.chr1:147230307G>A		CCDS929.1	1q21.1	2008-02-05	2007-01-16		ENSG00000143140	ENSG00000265107		"""Ion channels / Gap junction proteins (connexins)"""	4279	protein-coding gene	gene with protein product	"""connexin 40"""	121013	"""gap junction protein, alpha 5, 40kD (connexin 40)"", ""gap junction protein, alpha 5, 40kDa (connexin 40)"""				Standard	NM_005266		Approved	CX40	uc001eps.1	P36382	OTTHUMG00000014020	ENST00000271348.2:c.1040C>T	1.37:g.147230307G>A	ENSP00000271348:p.Ala347Val					GJA5_ENST00000369237.1_Missense_Mutation_p.A347V|RP11-433J22.2_ENST00000428911.1_RNA	p.A347V	NM_005266.5|NM_181703.2	NP_005257.2|NP_859054.1	P36382	CXA5_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.202)		2	1201	-	all_hematologic(923;0.0276)		347					Q5T3B6|Q5U0N6	Missense_Mutation	SNP	ENST00000271348.2	37	c.1040C>T	CCDS929.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.328319	0.60743	.	.	ENSG00000143140	ENST00000271348;ENST00000369237	D;D	0.89123	-2.47;-2.47	5.38	4.45	0.53987	.	0.441099	0.23724	N	0.045181	D	0.83552	0.5279	M	0.76002	2.32	0.46222	D	0.998938	B	0.28998	0.23	B	0.21360	0.034	D	0.85094	0.0953	10	0.87932	D	0	.	15.3714	0.74568	0.0:0.0:0.8596:0.1404	.	347	P36382	CXA5_HUMAN	V	347	ENSP00000271348:A347V;ENSP00000358240:A347V	ENSP00000271348:A347V	A	-	2	0	GJA5	145696931	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.133000	0.71682	1.456000	0.47831	0.655000	0.94253	GCC		0.542	GJA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039422.2	NM_181703		5	70	0	0	0	1	0	5	70				
HAVCR1	26762	broad.mit.edu	37	5	156482298	156482298	+	Missense_Mutation	SNP	G	G	A			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr5:156482298G>A	ENST00000339252.3	-	2	825	c.293C>T	c.(292-294)tCt>tTt	p.S98F	HAVCR1_ENST00000425854.1_Missense_Mutation_p.S98F|HAVCR1_ENST00000544197.1_Missense_Mutation_p.S98F|HAVCR1_ENST00000523175.1_Missense_Mutation_p.S98F|HAVCR1_ENST00000522693.1_Missense_Mutation_p.S98F	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	0	Ig-like V-type.				viral process (GO:0016032)	integral component of membrane (GO:0016021)	virus receptor activity (GO:0001618)			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCCACTGTCAGACACAGCTGT	0.453																																						ENST00000339252.3																			0				endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(292-294)tCt>tTt		hepatitis A virus cellular receptor 1							94.0	82.0	86.0					5																	156482298		2021	4207	6228	SO:0001583	missense	26762				interspecies interaction between organisms	integral to membrane	receptor activity	g.chr5:156482298G>A	AF043724	CCDS43392.1	5q33.2	2014-01-14			ENSG00000113249	ENSG00000113249		"""Immunoglobulin superfamily / V-set domain containing"""	17866	protein-coding gene	gene with protein product	"""T-cell immunoglobulin mucin family member 1"""	606518				9658108, 11725301	Standard	NM_012206		Approved	HAVCR-1, TIM-1, TIM1, HAVCR, TIMD1	uc021ygj.1	Q96D42	OTTHUMG00000163466	ENST00000339252.3:c.293C>T	5.37:g.156482298G>A	ENSP00000344844:p.Ser98Phe					HAVCR1_ENST00000544197.1_Missense_Mutation_p.S98F|HAVCR1_ENST00000523175.1_Missense_Mutation_p.S98F|HAVCR1_ENST00000425854.1_Missense_Mutation_p.S98F|HAVCR1_ENST00000522693.1_Missense_Mutation_p.S98F	p.S98F	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	825	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	98			Ig-like V-type.		O43656	Missense_Mutation	SNP	ENST00000339252.3	37	c.293C>T	CCDS43392.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.192506	0.38707	.	.	ENSG00000113249	ENST00000522693;ENST00000523175;ENST00000339252;ENST00000425854;ENST00000544197;ENST00000518745	T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.65	5.78	-2.73	0.05950	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.589060	0.03506	N	0.218919	T	0.68201	0.2975	M	0.87097	2.86	0.09310	N	1	D;D	0.67145	0.996;0.996	D;D	0.65443	0.935;0.935	T	0.59526	-0.7438	10	0.87932	D	0	-0.7501	6.6383	0.22895	0.0691:0.096:0.2227:0.6122	.	98;98	F1CME6;Q96D42	.;HAVR1_HUMAN	F	98	ENSP00000428524:S98F;ENSP00000427898:S98F;ENSP00000344844:S98F;ENSP00000403333:S98F;ENSP00000440258:S98F;ENSP00000428422:S98F	ENSP00000344844:S98F	S	-	2	0	HAVCR1	156414876	0.020000	0.18652	0.001000	0.08648	0.020000	0.10135	0.168000	0.16622	-0.160000	0.11002	-0.188000	0.12872	TCT		0.453	HAVCR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373698.1			8	83	0	0	0	1	0	8	83				
CCL13	6357	broad.mit.edu	37	17	32685095	32685095	+	Missense_Mutation	SNP	G	G	C			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr17:32685095G>C	ENST00000225844.2	+	3	317	c.242G>C	c.(241-243)tGg>tCg	p.W81S		NM_005408.2	NP_005399.1	Q99616	CCL13_HUMAN	chemokine (C-C motif) ligand 13	81					cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|immune response (GO:0006955)|inflammatory response (GO:0006954)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)|receptor binding (GO:0005102)			large_intestine(1)|prostate(1)	2		Ovarian(249;0.0443)|Breast(31;0.151)				AAGGAGAAGTGGGTCCAGAAT	0.493																																						ENST00000225844.2																			0				large_intestine(1)|prostate(1)	2						c.(241-243)tGg>tCg		chemokine (C-C motif) ligand 13							72.0	70.0	71.0					17																	32685095		2203	4300	6503	SO:0001583	missense	6357				cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response	extracellular space	chemokine activity|signal transducer activity	g.chr17:32685095G>C	AJ001634	CCDS11281.1	17q11.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000181374	ENSG00000181374		"""Chemokine ligands"", ""Endogenous ligands"""	10611	protein-coding gene	gene with protein product		601391	"""small inducible cytokine subfamily A (Cys-Cys), member 13"""	SCYA13		8661057	Standard	NM_005408		Approved	MCP-4, NCC-1, SCYL1, CKb10, MGC17134	uc002hic.3	Q99616	OTTHUMG00000132890	ENST00000225844.2:c.242G>C	17.37:g.32685095G>C	ENSP00000225844:p.Trp81Ser						p.W81S	NM_005408.2	NP_005399.1	Q99616	CCL13_HUMAN			3	317	+		Ovarian(249;0.0443)|Breast(31;0.151)	81					O95689|Q6ICQ6	Missense_Mutation	SNP	ENST00000225844.2	37	c.242G>C	CCDS11281.1	.	.	.	.	.	.	.	.	.	.	G	6.735	0.504466	0.12822	.	.	ENSG00000181374	ENST00000225844	T	0.09723	2.95	4.37	4.37	0.52481	Chemokine interleukin-8-like domain (3);	.	.	.	.	T	0.31575	0.0801	.	.	.	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.04678	-1.0934	8	0.66056	D	0.02	.	12.4063	0.55441	0.0:0.0:1.0:0.0	.	81	Q99616	CCL13_HUMAN	S	81	ENSP00000225844:W81S	ENSP00000225844:W81S	W	+	2	0	CCL13	29709208	1.000000	0.71417	0.892000	0.35008	0.369000	0.29798	2.126000	0.42026	1.958000	0.56883	0.561000	0.74099	TGG		0.493	CCL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256389.1	NM_005408		16	22	0	0	0	1	0	16	22				
TBC1D1	23216	broad.mit.edu	37	4	38051409	38051409	+	Silent	SNP	C	C	T			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr4:38051409C>T	ENST00000261439.4	+	11	2155	c.1800C>T	c.(1798-1800)ttC>ttT	p.F600F	TBC1D1_ENST00000508802.1_Silent_p.F600F	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	600					membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TGAGTCACTTCCCCATCGAAT	0.602																																						ENST00000261439.4																			0				NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						c.(1798-1800)ttC>ttT		TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1							61.0	65.0	63.0					4																	38051409		2203	4300	6503	SO:0001819	synonymous_variant	23216					nucleus	Rab GTPase activator activity	g.chr4:38051409C>T	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.1800C>T	4.37:g.38051409C>T						TBC1D1_ENST00000508802.1_Silent_p.F600F	p.F600F	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN			11	2155	+			600					B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Silent	SNP	ENST00000261439.4	37	c.1800C>T	CCDS33972.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.626|0.626	-0.819010|-0.819010	0.02776|0.02776	.|.	.|.	ENSG00000065882|ENSG00000065882	ENST00000510573|ENST00000513936;ENST00000443855	.|.	.|.	.|.	5.06|5.06	2.38|2.38	0.29361|0.29361	.|.	.|.	.|.	.|.	.|.	T|T	0.51822|0.51822	0.1697|0.1697	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.38045|0.38045	-0.9679|-0.9679	4|4	.|.	.|.	.|.	-0.7129|-0.7129	4.9483|4.9483	0.14000|0.14000	0.2694:0.5134:0.0:0.2172|0.2694:0.5134:0.0:0.2172	.|.	.|.	.|.	.|.	S|F	248|125;92	.|.	.|.	P|S	+|+	1|2	0|0	TBC1D1|TBC1D1	37727804|37727804	0.218000|0.218000	0.23608|0.23608	0.326000|0.326000	0.25389|0.25389	0.016000|0.016000	0.09150|0.09150	-0.477000|-0.477000	0.06583|0.06583	0.251000|0.251000	0.21505|0.21505	-0.136000|-0.136000	0.14681|0.14681	CCC|TCC		0.602	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173		32	60	0	0	0	1	0	32	60				
ZNF334	55713	broad.mit.edu	37	20	45130415	45130415	+	Silent	SNP	T	T	C			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr20:45130415T>C	ENST00000347606.4	-	5	1745	c.1563A>G	c.(1561-1563)gaA>gaG	p.E521E	ZNF334_ENST00000457685.2_Silent_p.E483E|ZNF334_ENST00000593880.1_Silent_p.E544E	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	521					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CATGCCCATGTTCACTACACT	0.403																																						ENST00000457685.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32						c.(1447-1449)gaA>gaG		zinc finger protein 334							221.0	204.0	210.0					20																	45130415		2203	4300	6503	SO:0001819	synonymous_variant	55713				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:45130415T>C	AK001331	CCDS33480.1, CCDS74736.1	20q13.12	2013-09-20			ENSG00000198185	ENSG00000198185		"""Zinc fingers, C2H2-type"", ""-"""	15806	protein-coding gene	gene with protein product							Standard	NM_018102		Approved	bA179N14.1	uc002xsc.4	Q9HCZ1	OTTHUMG00000032654	ENST00000347606.4:c.1563A>G	20.37:g.45130415T>C						ZNF334_ENST00000347606.4_Silent_p.E521E|ZNF334_ENST00000593880.1_Silent_p.E544E	p.E483E			Q9HCZ1	ZN334_HUMAN			6	2772	-		Myeloproliferative disorder(115;0.0122)	521					Q5T6U2|Q9NVW4	Silent	SNP	ENST00000347606.4	37	c.1449A>G	CCDS33480.1																																																																																				0.403	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079575.1			5	230	0	0	0	1	0	5	230				
TRAPPC10	7109	broad.mit.edu	37	21	45518255	45518255	+	Silent	SNP	G	G	A			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr21:45518255G>A	ENST00000291574.4	+	21	3361	c.3186G>A	c.(3184-3186)aaG>aaA	p.K1062K		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	1062					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						ACAACGTGAAGGCTGAGATCT	0.502																																						ENST00000291574.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						c.(3184-3186)aaG>aaA		trafficking protein particle complex 10							154.0	148.0	150.0					21																	45518255		2203	4300	6503	SO:0001819	synonymous_variant	7109				vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	g.chr21:45518255G>A	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"""Trafficking protein particle complex"""	11868	protein-coding gene	gene with protein product	"""trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit"""	602103	"""transmembrane protein 1"""	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.3186G>A	21.37:g.45518255G>A							p.K1062K	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN			21	3361	+			1062					Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Silent	SNP	ENST00000291574.4	37	c.3186G>A	CCDS13704.1																																																																																				0.502	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274		11	79	0	0	0	1	0	11	79				
LTBP1	4052	broad.mit.edu	37	2	33413856	33413856	+	Missense_Mutation	SNP	G	G	A			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr2:33413856G>A	ENST00000404816.2	+	7	1992	c.1639G>A	c.(1639-1641)Gtc>Atc	p.V547I	LTBP1_ENST00000354476.3_Missense_Mutation_p.V547I|LTBP1_ENST00000404525.1_Missense_Mutation_p.V221I|LTBP1_ENST00000390003.4_Missense_Mutation_p.V221I|LTBP1_ENST00000402934.1_Missense_Mutation_p.V221I|LTBP1_ENST00000407925.1_Missense_Mutation_p.V221I|LTBP1_ENST00000418533.2_Missense_Mutation_p.V221I			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	547					extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CATTCCTCACGTCTACCCCGT	0.537																																						ENST00000404816.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108						c.(1639-1641)Gtc>Atc		latent transforming growth factor beta binding protein 1							143.0	139.0	141.0					2																	33413856		2203	4300	6503	SO:0001583	missense	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33413856G>A		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.1639G>A	2.37:g.33413856G>A	ENSP00000386043:p.Val547Ile					LTBP1_ENST00000354476.3_Missense_Mutation_p.V547I|LTBP1_ENST00000390003.4_Missense_Mutation_p.V221I|LTBP1_ENST00000418533.2_Missense_Mutation_p.V221I|LTBP1_ENST00000404525.1_Missense_Mutation_p.V221I|LTBP1_ENST00000407925.1_Missense_Mutation_p.V221I|LTBP1_ENST00000402934.1_Missense_Mutation_p.V221I	p.V547I			Q14766	LTBP1_HUMAN			7	1992	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	547					A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.1639G>A	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	G	12.17	1.856732	0.32791	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925	T;T;T;T;T;T;T	0.80566	-1.39;-1.38;-1.33;-1.28;-1.31;-1.3;-1.29	5.73	1.76	0.24704	.	.	.	.	.	T	0.65417	0.2689	N	0.25647	0.755	0.47737	D	0.999502	B;B;B;B;B;B	0.29716	0.015;0.164;0.0;0.161;0.255;0.026	B;B;B;B;B;B	0.31245	0.006;0.126;0.002;0.072;0.105;0.015	T	0.49560	-0.8927	9	0.22109	T	0.4	.	6.876	0.24147	0.2753:0.1153:0.6094:0.0	.	547;221;221;221;221;547	Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	LTBP1_HUMAN;.;.;.;.;.	I	547;547;221;221;221;221;221	ENSP00000386043:V547I;ENSP00000346467:V547I;ENSP00000374653:V221I;ENSP00000393057:V221I;ENSP00000384373:V221I;ENSP00000385359:V221I;ENSP00000384091:V221I	ENSP00000346467:V547I	V	+	1	0	LTBP1	33267360	0.192000	0.23301	0.768000	0.31515	0.959000	0.62525	0.325000	0.19628	0.043000	0.15746	0.561000	0.74099	GTC		0.537	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		36	61	0	0	0	1	0	36	61				
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	755						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423																																						ENST00000342960.5																			5	Substitution - Missense(5)	p.E3455K(5)	skin(2)|urinary_tract(1)|kidney(1)|central_nervous_system(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10363-10365)Gaa>Aaa		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145367767G>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10363G>A	1.37:g.145367767G>A	ENSP00000345684:p.Glu3455Lys					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.E3455K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10398	+	all_hematologic(923;0.032)		3455					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.10363G>A	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.929795	0.00488	.	.	ENSG00000163386	ENST00000369339;ENST00000342960	T	0.02552	4.25	.	.	.	.	.	.	.	.	T	0.00784	0.0026	L	0.51422	1.61	0.09310	N	1	.	.	.	.	.	.	T	0.46162	-0.9211	4	0.02654	T	1	.	.	.	.	.	.	.	.	K	575;3455	ENSP00000345684:E3455K	ENSP00000345684:E3455K	E	+	1	0	NBPF10	144079124	0.039000	0.19947	.	.	.	.	0.000000	0.12993	.	.	.	.	GAA		0.423	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		5	66	0	0	0	1	0	5	66				
HELZ	9931	broad.mit.edu	37	17	65074569	65074569	+	Silent	SNP	C	C	T			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr17:65074569C>T	ENST00000358691.5	-	33	5794	c.5628G>A	c.(5626-5628)gcG>gcA	p.A1876A	HELZ_ENST00000580168.1_Silent_p.A1877A	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	1876						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TGGCCGACTCCGCGATCTGCT	0.612																																						ENST00000358691.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(5626-5628)gcG>gcA		helicase with zinc finger							128.0	130.0	129.0					17																	65074569		1952	4152	6104	SO:0001819	synonymous_variant	9931							g.chr17:65074569C>T	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.5628G>A	17.37:g.65074569C>T						HELZ_ENST00000580168.1_Silent_p.A1877A	p.A1876A	NM_014877.3	NP_055692.2					33	5794	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Silent	SNP	ENST00000358691.5	37	c.5628G>A	CCDS42374.1																																																																																				0.612	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		84	129	0	0	0	1	0	84	129				
ARL2	402	broad.mit.edu	37	11	64781694	64781694	+	Silent	SNP	C	C	T			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr11:64781694C>T	ENST00000246747.4	+	1	110	c.15C>T	c.(13-15)acC>acT	p.T5T	ARL2_ENST00000529384.1_Silent_p.T5T|ARL2_ENST00000533729.1_Silent_p.T5T|RP11-399J13.3_ENST00000301886.3_Silent_p.T5T	NM_001667.3	NP_001658.2	P36404	ARL2_HUMAN	ADP-ribosylation factor-like 2	5					cell cycle (GO:0007049)|centrosome organization (GO:0051297)|GTP catabolic process (GO:0006184)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of GTPase activity (GO:0034260)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of microtubule polymerization (GO:0031116)|regulation of microtubule polymerization (GO:0031113)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)|tubulin complex assembly (GO:0007021)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|lateral plasma membrane (GO:0016328)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|GTPase inhibitor activity (GO:0005095)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	5						GGCTCCTGACCATTCTGAAGA	0.672																																						ENST00000246747.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	5						c.(13-15)acC>acT		ADP-ribosylation factor-like 2							21.0	23.0	23.0					11																	64781694		2190	4293	6483	SO:0001819	synonymous_variant	402				cell cycle|centrosome organization|maintenance of protein location in nucleus|negative regulation of GTPase activity|positive regulation of cell-substrate adhesion|positive regulation of microtubule polymerization|small GTPase mediated signal transduction|tight junction assembly|tubulin complex assembly	centrosome|lateral plasma membrane|mitochondrial intermembrane space|nucleus	GTP binding|GTPase activity|GTPase inhibitor activity|protein binding	g.chr11:64781694C>T	AF493888	CCDS8088.1, CCDS55770.1	11q13	2014-05-09			ENSG00000213465	ENSG00000213465		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	693	protein-coding gene	gene with protein product		601175				8415637, 9253601	Standard	NM_001667		Approved	ARFL2	uc001och.4	P36404	OTTHUMG00000165728	ENST00000246747.4:c.15C>T	11.37:g.64781694C>T						ARL2_ENST00000529384.1_Silent_p.T5T|ARL2_ENST00000533729.1_Silent_p.T5T|SNX15_ENST00000301886.3_3'UTR	p.T5T	NM_001667.3	NP_001658.2	P36404	ARL2_HUMAN			1	110	+			5					G3V184|Q9BUK8	Silent	SNP	ENST00000246747.4	37	c.15C>T	CCDS8088.1																																																																																				0.672	ARL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385963.1	NM_001667		8	8	0	0	0	1	0	8	8				
PRG4	10216	broad.mit.edu	37	1	186276366	186276366	+	Silent	SNP	G	G	A			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr1:186276366G>A	ENST00000445192.2	+	7	1560	c.1515G>A	c.(1513-1515)gaG>gaA	p.E505E	PRG4_ENST00000367486.3_Silent_p.E462E|PRG4_ENST00000367483.4_Silent_p.E464E|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.E412E	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	505	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTCCCAAGGAGCCTGCACCCA	0.647																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1513-1515)gaG>gaA		proteoglycan 4							113.0	113.0	113.0					1																	186276366		2203	4299	6502	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276366G>A	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1515G>A	1.37:g.186276366G>A						PRG4_ENST00000367483.4_Silent_p.E464E|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.E412E|PRG4_ENST00000367486.3_Silent_p.E462E	p.E505E	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1560	+			505			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.1515G>A	CCDS1369.1																																																																																				0.647	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		4	128	0	0	0	1	0	4	128				
TAB3	257397	broad.mit.edu	37	X	30872733	30872733	+	Missense_Mutation	SNP	T	T	C			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chrX:30872733T>C	ENST00000378933.1	-	3	1226	c.1049A>G	c.(1048-1050)tAt>tGt	p.Y350C	TAB3_ENST00000378930.3_Missense_Mutation_p.Y350C|TAB3-AS2_ENST00000445240.1_RNA|TAB3_ENST00000288422.2_Missense_Mutation_p.Y350C|TAB3_ENST00000378928.1_5'Flank|TAB3_ENST00000378932.2_Missense_Mutation_p.Y350C	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	350	Pro-rich.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						GTATGGAAGATAGGCTACTGA	0.433																																					Pancreas(164;1598 1985 29022 43301 49529)	ENST00000378933.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						c.(1048-1050)tAt>tGt		TGF-beta activated kinase 1/MAP3K7 binding protein 3							140.0	129.0	132.0					X																	30872733		2202	4300	6502	SO:0001583	missense	257397				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chrX:30872733T>C	AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625			30681	protein-coding gene	gene with protein product	"""TAK1 binding protein 3"""	300480	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 3"""	MAP3K7IP3		14633987, 14670075	Standard	XM_005274482		Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.1049A>G	X.37:g.30872733T>C	ENSP00000368215:p.Tyr350Cys					TAB3_ENST00000378930.3_Missense_Mutation_p.Y350C|TAB3_ENST00000378932.2_Missense_Mutation_p.Y350C|TAB3-AS2_ENST00000445240.1_RNA|TAB3_ENST00000288422.2_Missense_Mutation_p.Y350C	p.Y350C	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN			3	1226	-			350			Pro-rich.		A6NDD9|Q6VQR0	Missense_Mutation	SNP	ENST00000378933.1	37	c.1049A>G	CCDS14226.1	.	.	.	.	.	.	.	.	.	.	T	11.47	1.648904	0.29336	.	.	ENSG00000157625	ENST00000378933;ENST00000378930;ENST00000288422;ENST00000378932	T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.77	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.77260	0.4104	L	0.27053	0.805	0.36396	D	0.862833	D;D	0.71674	0.998;0.997	D;P	0.67103	0.949;0.788	T	0.82655	-0.0350	10	0.52906	T	0.07	-2.0E-4	14.1229	0.65201	0.0:0.0:0.0:1.0	.	350;350	Q8N5C8-2;Q8N5C8	.;TAB3_HUMAN	C	350	ENSP00000368215:Y350C;ENSP00000368212:Y350C;ENSP00000288422:Y350C;ENSP00000368214:Y350C	ENSP00000288422:Y350C	Y	-	2	0	TAB3	30782654	1.000000	0.71417	1.000000	0.80357	0.580000	0.36256	3.110000	0.50352	1.782000	0.52362	0.433000	0.28618	TAT		0.433	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056173.1	NM_152787		3	58	0	0	0	1	0	3	58				
BCRP7	100133163	broad.mit.edu	37	22	18844763	18844763	+	3'UTR	SNP	T	T	C	rs1064849		TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr22:18844763T>C	ENST00000412938.1	+	0	3013																											TCACAGCCTCTGAGGGCAGCA	0.562																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	100133163							g.chr22:18844763T>C																												ENST00000412938.1:c.*3010T>C	22.37:g.18844763T>C														0	3013	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.562	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			3	13	0	0	0	1	0	3	13				
HSP90AA1	3320	broad.mit.edu	37	14	102551717	102551717	+	Missense_Mutation	SNP	T	T	G			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr14:102551717T>G	ENST00000216281.8	-	4	786	c.581A>C	c.(580-582)cAa>cCa	p.Q194P	HSP90AA1_ENST00000441629.2_Missense_Mutation_p.Q15P|HSP90AA1_ENST00000334701.7_Missense_Mutation_p.Q316P	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	194					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	GTACTCAGTTTGGTCTTCTTT	0.343																																						ENST00000334701.7																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28						c.(946-948)cAa>cCa		heat shock protein 90kDa alpha (cytosolic), class A member 1	Rifabutin(DB00615)						79.0	65.0	70.0					14																	102551717		2203	4300	6503	SO:0001583	missense	3320				axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding	g.chr14:102551717T>G	M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"""Heat shock proteins / HSPC"""	5253	protein-coding gene	gene with protein product		140571	"""heat shock 90kD protein 1, alpha"", ""heat shock 90kDa protein 1, alpha"""	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.581A>C	14.37:g.102551717T>G	ENSP00000216281:p.Gln194Pro					HSP90AA1_ENST00000441629.2_Missense_Mutation_p.Q15P|HSP90AA1_ENST00000216281.8_Missense_Mutation_p.Q194P	p.Q316P	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN			5	1228	-			194					A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Missense_Mutation	SNP	ENST00000216281.8	37	c.947A>C	CCDS9967.1	.	.	.	.	.	.	.	.	.	.	t	18.57	3.651988	0.67472	.	.	ENSG00000080824	ENST00000216281;ENST00000334701;ENST00000441629;ENST00000553585	T;T;T;T	0.76839	-1.05;-1.05;2.49;-1.05	4.29	4.29	0.51040	Heat shock protein Hsp90, N-terminal (1);ATPase-like, ATP-binding domain (3);	0.000000	0.85682	U	0.000000	D	0.90995	0.7168	H	0.95328	3.655	0.80722	D	1	P;D;P	0.71674	0.824;0.998;0.952	P;D;D	0.83275	0.84;0.996;0.921	D	0.93474	0.6821	10	0.87932	D	0	-26.5834	13.741	0.62847	0.0:0.0:0.0:1.0	.	15;316;194	Q86U12;P07900-2;P07900	.;.;HS90A_HUMAN	P	194;316;15;125	ENSP00000216281:Q194P;ENSP00000335153:Q316P;ENSP00000396189:Q15P;ENSP00000450712:Q125P	ENSP00000216281:Q194P	Q	-	2	0	HSP90AA1	101621470	1.000000	0.71417	0.955000	0.39395	0.996000	0.88848	7.827000	0.86722	1.723000	0.51488	0.528000	0.53228	CAA		0.343	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2	NM_005348		21	32	0	0	0	1	0	21	32				
SYT3	84258	broad.mit.edu	37	19	51135613	51135613	+	Missense_Mutation	SNP	G	G	A			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr19:51135613G>A	ENST00000338916.4	-	2	1237	c.604C>T	c.(604-606)Ccc>Tcc	p.P202S	SYT3_ENST00000593901.1_Missense_Mutation_p.P202S|SYT3_ENST00000544769.1_Missense_Mutation_p.P202S|SYT3_ENST00000600079.1_Missense_Mutation_p.P202S	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	202					calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CCACTGGGGGGCAGCAGGAGC	0.652																																						ENST00000338916.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35						c.(604-606)Ccc>Tcc		synaptotagmin III							43.0	47.0	45.0					19																	51135613		2203	4300	6503	SO:0001583	missense	84258					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:51135613G>A	AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023		"""Synaptotagmins"""	11511	protein-coding gene	gene with protein product		600327				7749232	Standard	NM_032298		Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.604C>T	19.37:g.51135613G>A	ENSP00000340914:p.Pro202Ser					SYT3_ENST00000600079.1_Missense_Mutation_p.P202S|SYT3_ENST00000593901.1_Missense_Mutation_p.P202S|SYT3_ENST00000544769.1_Missense_Mutation_p.P202S	p.P202S	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)	2	1237	-		all_neural(266;0.131)	202					Q8N5Z1|Q8N640	Missense_Mutation	SNP	ENST00000338916.4	37	c.604C>T	CCDS12798.1	.	.	.	.	.	.	.	.	.	.	G	7.929	0.740162	0.15642	.	.	ENSG00000213023	ENST00000338916;ENST00000544769	T;T	0.59224	0.28;0.28	5.24	4.13	0.48395	.	0.381343	0.18153	U	0.150006	T	0.36358	0.0964	L	0.27053	0.805	0.42761	D	0.993807	P	0.39809	0.689	B	0.33254	0.16	T	0.28902	-1.0029	10	0.06494	T	0.89	.	12.6345	0.56675	0.0:0.0:0.8337:0.1662	.	202	Q9BQG1	SYT3_HUMAN	S	202	ENSP00000340914:P202S;ENSP00000438883:P202S	ENSP00000340914:P202S	P	-	1	0	SYT3	55827425	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.110000	0.50352	2.605000	0.88082	0.655000	0.94253	CCC		0.652	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464910.1	NM_032298		18	31	0	0	0	1	0	18	31				
GPR148	344561	broad.mit.edu	37	2	131486787	131486787	+	Silent	SNP	C	C	T			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr2:131486787C>T	ENST00000309926.4	+	1	145	c.63C>T	c.(61-63)ctC>ctT	p.L21L		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					TGATCCAGCTCATCAGCAAGA	0.612																																						ENST00000309926.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27						c.(61-63)ctC>ctT		G protein-coupled receptor 148							99.0	97.0	97.0					2																	131486787		2203	4300	6503	SO:0001819	synonymous_variant	344561					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:131486787C>T	AY255532	CCDS2163.1	2q21.2	2012-08-21			ENSG00000173302	ENSG00000173302		"""GPCR / Class A : Orphans"""	23623	protein-coding gene	gene with protein product						12679517	Standard	NM_207364		Approved	PGR6	uc002trv.2	Q8TDV2	OTTHUMG00000131655	ENST00000309926.4:c.63C>T	2.37:g.131486787C>T							p.L21L	NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN			1	145	+	Colorectal(110;0.1)		21					Q2M369|Q86SP7|Q86U87	Silent	SNP	ENST00000309926.4	37	c.63C>T	CCDS2163.1																																																																																				0.612	GPR148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254552.3	XM_293092		14	98	0	0	0	1	0	14	98				
THBS1	7057	broad.mit.edu	37	15	39885298	39885298	+	Silent	SNP	C	C	T	rs139289744	byFrequency	TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr15:39885298C>T	ENST00000260356.5	+	18	3030	c.2865C>T	c.(2863-2865)acC>acT	p.T955T	CTD-2033D15.1_ENST00000560769.1_RNA	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	955					activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		TCAGTGAGACCGATTTCCGCC	0.502													C|||	2	0.000399361	0.0015	0.0	5008	,	,		20786	0.0		0.0	False		,,,				2504	0.0					ENST00000260356.5																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(2863-2865)acC>acT		thrombospondin 1	Becaplermin(DB00102)	C		3,4397	6.2+/-15.9	0,3,2197	80.0	68.0	72.0		2865	-9.0	0.8	15	dbSNP_134	72	0,8594		0,0,4297	no	coding-synonymous	THBS1	NM_003246.2		0,3,6494	TT,TC,CC		0.0,0.0682,0.0231		955/1171	39885298	3,12991	2200	4297	6497	SO:0001819	synonymous_variant	7057				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	g.chr15:39885298C>T		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.2865C>T	15.37:g.39885298C>T							p.T955T	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	18	3030	+		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)	955					A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Silent	SNP	ENST00000260356.5	37	c.2865C>T	CCDS32194.1																																																																																				0.502	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		5	36	0	0	0	1	0	5	36				
ANKRD36BP2	645784	broad.mit.edu	37	2	89083945	89083946	+	RNA	INS	-	-	GC			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr2:89083945_89083946insGC	ENST00000393525.3	+	0	576									ankyrin repeat domain 36B pseudogene 2																		GTATTCCTTTTTTTTCAGTGTA	0.347																																						ENST00000393525.3																			0																																																			645784							g.chr2:89083945_89083946insGC			2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89083945_89083946insGC														0	576	+									RNA	INS	ENST00000393525.3	37																																																																																						0.347	ANKRD36BP2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000323523.1			3	4						3	4	---	---	---	---
CTC-338M12.9	0	broad.mit.edu	37	5	180708776	180708777	+	lincRNA	INS	-	-	G	rs140221514|rs61118356		TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr5:180708776_180708777insG	ENST00000412295.2	+	0	238																											gggcggtaggagggggctggag	0.728																																						ENST00000412295.2																			0																																																			0							g.chr5:180708776_180708777insG																													5.37:g.180708781_180708781dupG														0	238	+									RNA	INS	ENST00000412295.2	37																																																																																						0.728	CTC-338M12.9-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000372940.1			6	10						6	10	---	---	---	---
EFNB3	1949	broad.mit.edu	37	17	7612004	7612004	+	Frame_Shift_Del	DEL	A	A	-			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr17:7612004delA	ENST00000226091.2	+	4	957	c.560delA	c.(559-561)gaafs	p.E187fs		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	187					adult walking behavior (GO:0007628)|axon choice point recognition (GO:0016198)|axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|nervous system development (GO:0007399)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				ATGCCCATGGAAAGAGACCGA	0.632																																						ENST00000226091.2																			0				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(559-561)gafs		ephrin-B3							21.0	24.0	23.0					17																	7612004		2202	4289	6491	SO:0001589	frameshift_variant	1949				cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity	g.chr17:7612004delA	U57001	CCDS11120.1	17p13.1	2011-03-09			ENSG00000108947	ENSG00000108947		"""Ephrins"""	3228	protein-coding gene	gene with protein product		602297		EPLG8		9126477	Standard	NM_001406		Approved	LERK-8	uc002gis.3	Q15768	OTTHUMG00000108161	ENST00000226091.2:c.560delA	17.37:g.7612004delA	ENSP00000226091:p.Glu187fs						p.E187fs	NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN			4	957	+		all_cancers(10;1.14e-06)|Prostate(122;0.081)	187					B2RBW2|D3DTQ6|O00680|Q8TBH7|Q92875	Frame_Shift_Del	DEL	ENST00000226091.2	37	c.560delA	CCDS11120.1																																																																																				0.632	EFNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226965.1	NM_001406		2	4						2	4	---	---	---	---
KLHL34	257240	broad.mit.edu	37	X	21674920	21674922	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chrX:21674920_21674922delCTC	ENST00000379499.2	-	1	1526_1528	c.985_987delGAG	c.(985-987)gagdel	p.E329del		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	329	Glu-rich.					extracellular space (GO:0005615)				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						TGAGCTCCCActcctcctcctcc	0.65														17	0.00450331	0.0061	0.0	3775	,	,		12349	0.006		0.0	False		,,,				2504	0.0031					ENST00000379499.2																			0				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						c.(985-987)del		kelch-like family member 34				3,72,3595		0,0,3,0,6,40,20,1530,492						4.9	1.0			25	6,150,6231		0,0,3,3,3,93,51,2244,1647	no	codingComplex	KLHL34	NM_153270.1		0,0,6,3,9,133,71,3774,2139	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		2.4425,2.0436,2.2969				9,222,9826				SO:0001651	inframe_deletion	257240							g.chrX:21674920_21674922delCTC	AK092279	CCDS14199.1	Xp22.12	2013-02-22	2013-02-22		ENSG00000185915	ENSG00000185915		"""Kelch-like"", ""BTB/POZ domain containing"""	26634	protein-coding gene	gene with protein product			"""kelch-like 34 (Drosophila)"""				Standard	NM_153270		Approved	FLJ34960, RP11-450P7.3	uc004czz.1	Q8N239	OTTHUMG00000021234	ENST00000379499.2:c.985_987delGAG	X.37:g.21674929_21674931delCTC	ENSP00000368813:p.Glu329del						p.E329del	NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN			1	1526_1528	-			329			Glu-rich.			In_Frame_Del	DEL	ENST00000379499.2	37	c.985_987delGAG	CCDS14199.1																																																																																				0.650	KLHL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056022.1	NM_153270		2	4						2	4	---	---	---	---
