#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
RET	5979	broad.mit.edu	37	10	43609948	43609948	+	Missense_Mutation	SNP	T	T	C	rs377767409|rs377767408|rs75076352|rs121913310		TCGA-SP-A6QK-01A-11D-A35I-08	TCGA-SP-A6QK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8faaac2-d88c-41c9-aa3f-c073a574a4c8	072a0cc2-5721-4b9a-a19c-dbc4f36876fd	g.chr10:43609948T>C	ENST00000355710.3	+	11	2132	c.1900T>C	c.(1900-1902)Tgc>Cgc	p.C634R	RET_ENST00000340058.5_Missense_Mutation_p.C634R	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	634			C -> CHELC (in MEN2A). {ECO:0000269|PubMed:9097963}.|C -> F (in MEN2A and pheochromocytoma). {ECO:0000269|PubMed:12000816, ECO:0000269|PubMed:7915165, ECO:0000269|PubMed:8099202}.|C -> G (in MEN2A and pheochromocytoma). {ECO:0000269|PubMed:12000816, ECO:0000269|PubMed:7915165, ECO:0000269|PubMed:8099202}.|C -> R (in MEN2A, pheochromocytoma and MTC; familial form; also found as somatic mutation in a sporadic thyroid carcinoma). {ECO:0000269|PubMed:12000816, ECO:0000269|PubMed:7860065, ECO:0000269|PubMed:8103403}.|C -> S (in MEN2A, pheochromocytoma and MTC; familial form). {ECO:0000269|PubMed:12000816, ECO:0000269|PubMed:8099202}.|C -> W (in MEN2A, pheochromocytoma and MTC; familial form). {ECO:0000269|PubMed:12000816}.|C -> Y (in MEN2A, pheochromocytoma and MTC; familial form). {ECO:0000269|PubMed:12000816, ECO:0000269|PubMed:7860065, ECO:0000269|PubMed:7915165, ECO:0000269|PubMed:8099202}.|CR -> WG (in MEN2A).|ELC -> DVR (in MEN2A).		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.E632_T636>SS(14)|p.C634R(8)|p.D631_I638>A(1)|p.E632_C634>L(1)|p.E632_A640>VRP(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)	CGACGAGCTGTGCCGCACGGT	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)	25	Complex - deletion inframe(17)|Substitution - Missense(8)	p.E632_T636>SS(14)|p.C634R(8)|p.D631_I638>A(1)|p.E632_C634>L(1)|p.E632_A640>VRP(1)	thyroid(22)|adrenal_gland(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	CM930644|CM941241|CM941242	RET	M	rs75076352	c.(1900-1902)Tgc>Cgc		ret proto-oncogene	Sunitinib(DB01268)						131.0	81.0	98.0					10																	43609948		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.chr10:43609948T>C	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.1900T>C	10.37:g.43609948T>C	ENSP00000347942:p.Cys634Arg					RET_ENST00000340058.5_Missense_Mutation_p.C634R	p.C634R	NM_020975.4	NP_066124.1	P07949	RET_HUMAN			11	2132	+		Ovarian(717;0.0423)	634		C -> CHELC (in MEN2A).|C -> F (in MEN2A and pheochromocytoma).|C -> G (in MEN2A and pheochromocytoma).|C -> R (in MEN2A, pheochromocytoma and MTC; familial form; also found as somatic mutation in a sporadic thyroid carcinoma).|C -> S (in MEN2A, pheochromocytoma and MTC; familial form).|C -> W (in MEN2A, pheochromocytoma and MTC; familial form).|C -> Y (in MEN2A, pheochromocytoma and MTC; familial form).|CR -> WG (in MEN2A).|ELC -> DVR (in MEN2A).			A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.1900T>C	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.086585	0.76642	.	.	ENSG00000165731	ENST00000355710;ENST00000498820;ENST00000340058	T;D;T	0.99369	-1.24;-5.78;-1.35	4.52	4.52	0.55395	.	0.000000	0.85682	D	0.000000	D	0.99324	0.9763	M	0.79805	2.47	0.80722	A	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	D	0.99097	1.0842	9	0.87932	D	0	.	14.0408	0.64674	0.0:0.0:0.0:1.0	.	380;634;634	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	R	634;151;634	ENSP00000347942:C634R;ENSP00000419080:C151R;ENSP00000344798:C634R	ENSP00000344798:C634R	C	+	1	0	RET	42929954	1.000000	0.71417	0.991000	0.47740	0.863000	0.49368	7.836000	0.86788	1.902000	0.55061	0.379000	0.24179	TGC		0.622	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		11	27	0	0	0	1	0	11	27				
FAT1	2195	broad.mit.edu	37	4	187527280	187527280	+	Missense_Mutation	SNP	C	C	T	rs554538206		TCGA-SP-A6QK-01A-11D-A35I-08	TCGA-SP-A6QK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8faaac2-d88c-41c9-aa3f-c073a574a4c8	072a0cc2-5721-4b9a-a19c-dbc4f36876fd	g.chr4:187527280C>T	ENST00000441802.2	-	17	10503	c.10294G>A	c.(10294-10296)Gat>Aat	p.D3432N		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3432	Cadherin 31. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCATTGACATCGGACACATCG	0.507										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(10294-10296)Gat>Aat		FAT atypical cadherin 1							144.0	141.0	142.0					4																	187527280		2001	4185	6186	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187527280C>T	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.10294G>A	4.37:g.187527280C>T	ENSP00000406229:p.Asp3432Asn	HNSCC(5;0.00058)					p.D3432N	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			17	10503	-			3432			Cadherin 31.			Missense_Mutation	SNP	ENST00000441802.2	37	c.10294G>A	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.427974	0.83667	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.03468	3.92	5.56	5.56	0.83823	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.27241	0.0668	M	0.91768	3.24	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.11299	-1.0593	10	0.87932	D	0	.	19.5318	0.95232	0.0:1.0:0.0:0.0	.	3432	Q14517	FAT1_HUMAN	N	3432;3434	ENSP00000406229:D3432N	ENSP00000260147:D3434N	D	-	1	0	FAT1	187764274	1.000000	0.71417	0.979000	0.43373	0.018000	0.09664	7.625000	0.83145	2.620000	0.88729	0.462000	0.41574	GAT		0.507	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		9	96	0	0	0	1	0	9	96				
FAT3	120114	broad.mit.edu	37	11	92616485	92616485	+	Missense_Mutation	SNP	A	A	C			TCGA-SP-A6QK-01A-11D-A35I-08	TCGA-SP-A6QK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8faaac2-d88c-41c9-aa3f-c073a574a4c8	072a0cc2-5721-4b9a-a19c-dbc4f36876fd	g.chr11:92616485A>C	ENST00000298047.6	+	23	12880	c.12863A>C	c.(12862-12864)aAc>aCc	p.N4288T	FAT3_ENST00000525166.1_Missense_Mutation_p.N4138T|FAT3_ENST00000489716.1_3'UTR|FAT3_ENST00000409404.2_Missense_Mutation_p.N4288T|FAT3_ENST00000533797.1_Missense_Mutation_p.N623T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4288					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N4288T(4)|p.N863T(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTGGCCCCCAACCTCCCCGCC	0.657										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			6	Substitution - Missense(6)	p.N4288T(4)|p.N863T(2)	lung(3)|kidney(3)	NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(12862-12864)aAc>aCc		FAT atypical cadherin 3							23.0	28.0	27.0					11																	92616485		2081	4183	6264	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92616485A>C	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.12863A>C	11.37:g.92616485A>C	ENSP00000298047:p.Asn4288Thr	TCGA Ovarian(4;0.039)				FAT3_ENST00000533797.1_Missense_Mutation_p.N623T|FAT3_ENST00000489716.1_3'UTR|FAT3_ENST00000525166.1_Missense_Mutation_p.N4138T|FAT3_ENST00000409404.2_Missense_Mutation_p.N4288T	p.N4288T			Q8TDW7	FAT3_HUMAN			23	12880	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	4288					B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.12863A>C		.	.	.	.	.	.	.	.	.	.	A	16.63	3.177419	0.57692	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;D	0.89196	-1.11;-1.11;-1.12;-2.48	5.64	5.64	0.86602	.	.	.	.	.	D	0.89726	0.6798	M	0.72353	2.195	0.80722	D	1	P;P	0.48294	0.908;0.889	P;B	0.45753	0.492;0.348	D	0.89114	0.3498	9	0.35671	T	0.21	.	15.8571	0.78987	1.0:0.0:0.0:0.0	.	4288;4288	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	T	4288;4288;4138;623	ENSP00000298047:N4288T;ENSP00000387040:N4288T;ENSP00000432586:N4138T;ENSP00000436399:N623T	ENSP00000298047:N4288T	N	+	2	0	FAT3	92256133	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.319000	0.79040	2.149000	0.67028	0.533000	0.62120	AAC		0.657	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		10	47	0	0	0	1	0	10	47				
ADAD2	161931	broad.mit.edu	37	16	84224883	84224883	+	Missense_Mutation	SNP	A	A	G	rs199747379		TCGA-SP-A6QK-01A-11D-A35I-08	TCGA-SP-A6QK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8faaac2-d88c-41c9-aa3f-c073a574a4c8	072a0cc2-5721-4b9a-a19c-dbc4f36876fd	g.chr16:84224883A>G	ENST00000315906.5	+	1	99	c.47A>G	c.(46-48)aAg>aGg	p.K16R	RP11-486L19.2_ENST00000536986.1_RNA|RP11-486L19.2_ENST00000561900.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA|ADAD2_ENST00000567413.1_3'UTR|ADAD2_ENST00000268624.3_Missense_Mutation_p.K16R	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	16					RNA processing (GO:0006396)		adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						AGTCGTAGGAAGCCCCGCCTG	0.716																																						ENST00000268624.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						c.(46-48)aAg>aGg		adenosine deaminase domain containing 2							9.0	11.0	10.0					16																	84224883		1971	3919	5890	SO:0001583	missense	161931				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding	g.chr16:84224883A>G	AF447586	CCDS10944.1, CCDS45536.1	16q24.1	2007-05-31			ENSG00000140955	ENSG00000140955			30714	protein-coding gene	gene with protein product							Standard	NM_139174		Approved	TENRL, FLJ00337	uc002fhr.2	Q8NCV1	OTTHUMG00000137637	ENST00000315906.5:c.47A>G	16.37:g.84224883A>G	ENSP00000325153:p.Lys16Arg					ADAD2_ENST00000567413.1_3'UTR|ADAD2_ENST00000315906.5_Missense_Mutation_p.K16R	p.K16R	NM_139174.3	NP_631913.3	Q8NCV1	ADAD2_HUMAN			1	140	+			16					B2RCL6|Q8NA94	Missense_Mutation	SNP	ENST00000315906.5	37	c.47A>G	CCDS45536.1	.	.	.	.	.	.	.	.	.	.	A	8.868	0.948607	0.18356	.	.	ENSG00000140955	ENST00000315906;ENST00000268624	T;T	0.26223	2.12;1.75	4.82	1.31	0.21738	.	.	.	.	.	T	0.12987	0.0315	N	0.12182	0.205	0.19300	N	0.999972	B;B	0.18013	0.022;0.025	B;B	0.20184	0.011;0.028	T	0.32798	-0.9893	9	0.28530	T	0.3	-6.7057	6.6155	0.22774	0.6921:0.0:0.3079:0.0	.	16;16	Q8NCV1;Q8NCV1-2	ADAD2_HUMAN;.	R	16	ENSP00000325153:K16R;ENSP00000268624:K16R	ENSP00000268624:K16R	K	+	2	0	ADAD2	82782384	0.995000	0.38212	0.981000	0.43875	0.059000	0.15707	0.362000	0.20284	0.006000	0.14734	-0.375000	0.07067	AAG		0.716	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433385.1	NM_139174		6	6	0	0	0	1	0	6	6				
LRP8	7804	broad.mit.edu	37	1	53732212	53732212	+	Missense_Mutation	SNP	C	C	T			TCGA-SP-A6QK-01A-11D-A35I-08	TCGA-SP-A6QK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8faaac2-d88c-41c9-aa3f-c073a574a4c8	072a0cc2-5721-4b9a-a19c-dbc4f36876fd	g.chr1:53732212C>T	ENST00000306052.6	-	9	1461	c.1360G>A	c.(1360-1362)Gca>Aca	p.A454T	LRP8_ENST00000354412.3_Missense_Mutation_p.A325T|LRP8_ENST00000465675.1_Missense_Mutation_p.A7T|LRP8_ENST00000371454.2_Missense_Mutation_p.A454T|LRP8_ENST00000347547.2_Missense_Mutation_p.A284T|RP4-784A16.1_ENST00000432653.1_RNA	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	454					ammon gyrus development (GO:0021541)|blood coagulation (GO:0007596)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cytokine-mediated signaling pathway (GO:0019221)|endocytosis (GO:0006897)|layer formation in cerebral cortex (GO:0021819)|lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction, visible light (GO:0007603)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendrite development (GO:1900006)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|proteolysis (GO:0006508)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|regulation of synaptic transmission (GO:0050804)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)	caveola (GO:0005901)|dendrite (GO:0030425)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|high-density lipoprotein particle binding (GO:0008035)|reelin receptor activity (GO:0038025)|transmembrane signaling receptor activity (GO:0004888)|very-low-density lipoprotein particle receptor activity (GO:0030229)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						ACATCTAGTGCCACGACATTC	0.542																																						ENST00000306052.6																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						c.(1360-1362)Gca>Aca		low density lipoprotein receptor-related protein 8, apolipoprotein e receptor							208.0	163.0	178.0					1																	53732212		2203	4300	6503	SO:0001583	missense	7804				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity	g.chr1:53732212C>T	D50678	CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1	1p32.3	2013-05-29			ENSG00000157193	ENSG00000157193		"""Low density lipoprotein receptors"""	6700	protein-coding gene	gene with protein product		602600				8626535, 9079678	Standard	NM_004631		Approved	APOER2, MCI1, LRP-8, HSZ75190	uc001cvi.2	Q14114	OTTHUMG00000008924	ENST00000306052.6:c.1360G>A	1.37:g.53732212C>T	ENSP00000303634:p.Ala454Thr					LRP8_ENST00000465675.1_Missense_Mutation_p.A7T|LRP8_ENST00000371454.2_Missense_Mutation_p.A454T|LRP8_ENST00000354412.3_Missense_Mutation_p.A325T|LRP8_ENST00000347547.2_Missense_Mutation_p.A284T	p.A454T	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN			9	1461	-			454					B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Missense_Mutation	SNP	ENST00000306052.6	37	c.1360G>A	CCDS578.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.351959|5.351959	0.95830|0.95830	.|.	.|.	ENSG00000157193|ENSG00000157193	ENST00000306052;ENST00000371454;ENST00000465675;ENST00000354412;ENST00000347547|ENST00000475501	D;D;D;D;D|.	0.91843|.	-2.92;-2.92;-2.92;-2.92;-2.92|.	5.05|5.05	5.05|5.05	0.67936|0.67936	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);|.	.|.	.|.	.|.	.|.	T|.	0.74520|.	0.3727|.	M|M	0.78285|0.78285	2.405|2.405	0.80722|0.80722	D|D	1|1	P;D;P;D;P;D|.	0.59357|.	0.948;0.983;0.936;0.967;0.942;0.985|.	P;P;P;P;P;P|.	0.61003|.	0.723;0.48;0.882;0.606;0.629;0.723|.	T|.	0.75382|.	-0.3337|.	9|.	0.87932|.	D|.	0|.	.|.	13.5527|13.5527	0.61740|0.61740	0.1555:0.8445:0.0:0.0|0.1555:0.8445:0.0:0.0	.|.	7;325;284;454;454;7|.	B3KU40;Q14114-2;Q14114-4;Q14114-3;Q14114;E9PP15|.	.;.;.;.;LRP8_HUMAN;.|.	T|X	454;454;7;325;284|142	ENSP00000303634:A454T;ENSP00000360509:A454T;ENSP00000437009:A7T;ENSP00000346391:A325T;ENSP00000334522:A284T|.	ENSP00000303634:A454T|.	A|W	-|-	1|3	0|0	LRP8|LRP8	53504800|53504800	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.984000|0.984000	0.73092|0.73092	4.633000|4.633000	0.61318|0.61318	2.620000|2.620000	0.88729|0.88729	0.563000|0.563000	0.77884|0.77884	GCA|TGG		0.542	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024699.1	NM_004631		3	43	0	0	0	1	0	3	43				
KCTD5	54442	broad.mit.edu	37	16	2732747	2732747	+	Silent	SNP	G	G	A			TCGA-SP-A6QK-01A-11D-A35I-08	TCGA-SP-A6QK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8faaac2-d88c-41c9-aa3f-c073a574a4c8	072a0cc2-5721-4b9a-a19c-dbc4f36876fd	g.chr16:2732747G>A	ENST00000301738.4	+	1	272	c.198G>A	c.(196-198)ccG>ccA	p.P66P	KCTD5_ENST00000564195.1_Silent_p.P66P	NM_018992.3	NP_061865.1	Q9NXV2	KCTD5_HUMAN	potassium channel tetramerization domain containing 5	66	BTB.				protein homooligomerization (GO:0051260)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2						GCCGGGACCCGAAATCCTTCC	0.687																																					Ovarian(56;981 1456 4301 50892)	ENST00000301738.4																			0				haematopoietic_and_lymphoid_tissue(1)|lung(1)	2						c.(196-198)ccG>ccA		potassium channel tetramerization domain containing 5							46.0	44.0	45.0					16																	2732747		2198	4300	6498	SO:0001819	synonymous_variant	54442				interspecies interaction between organisms	cytosol|nucleus|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr16:2732747G>A	AK000047	CCDS10475.1	16p13.3	2013-06-20	2013-06-20		ENSG00000167977	ENSG00000167977			21423	protein-coding gene	gene with protein product		611285	"""potassium channel tetramerisation domain containing 5"""			12477932	Standard	NM_018992		Approved	FLJ20040	uc002crd.3	Q9NXV2	OTTHUMG00000128930	ENST00000301738.4:c.198G>A	16.37:g.2732747G>A						KCTD5_ENST00000564195.1_Silent_p.P66P	p.P66P	NM_018992.3	NP_061865.1	Q9NXV2	KCTD5_HUMAN			1	272	+			66			BTB.		D3DU96	Silent	SNP	ENST00000301738.4	37	c.198G>A	CCDS10475.1																																																																																				0.687	KCTD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250909.2	NM_018992		13	30	0	0	0	1	0	13	30				
IL13RA1	3597	broad.mit.edu	37	X	117892071	117892071	+	Missense_Mutation	SNP	A	A	G			TCGA-SP-A6QK-01A-11D-A35I-08	TCGA-SP-A6QK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8faaac2-d88c-41c9-aa3f-c073a574a4c8	072a0cc2-5721-4b9a-a19c-dbc4f36876fd	g.chrX:117892071A>G	ENST00000371666.3	+	5	609	c.542A>G	c.(541-543)cAa>cGa	p.Q181R	IL13RA1_ENST00000481868.1_3'UTR|IL13RA1_ENST00000371642.1_Missense_Mutation_p.Q181R	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	181	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of immunoglobulin production (GO:0002639)	interleukin-13 receptor complex (GO:0005898)|plasma membrane (GO:0005886)	interleukin-13 receptor activity (GO:0016515)			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						AGAGAAGGCCAATACTTTGGT	0.348																																						ENST00000371666.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						c.(541-543)cAa>cGa		interleukin 13 receptor, alpha 1							128.0	117.0	121.0					X																	117892071		2203	4300	6503	SO:0001583	missense	3597					interleukin-13 receptor complex	cytokine receptor activity	g.chrX:117892071A>G	U62858	CCDS14573.1	Xq24	2008-02-05			ENSG00000131724	ENSG00000131724		"""Interleukins and interleukin receptors"", ""CD molecules"""	5974	protein-coding gene	gene with protein product	"""IL13 receptor alpha-1 chain"", ""CD213a1 antigen"""	300119				8910586, 9013879	Standard	NM_001560		Approved	IL-13Ra, NR4, CD213a1	uc004eqs.3	P78552	OTTHUMG00000022258	ENST00000371666.3:c.542A>G	X.37:g.117892071A>G	ENSP00000360730:p.Gln181Arg					IL13RA1_ENST00000371642.1_Missense_Mutation_p.Q181R|IL13RA1_ENST00000481868.1_3'UTR	p.Q181R	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN			5	609	+			181					O95646|Q5JSL4|Q99656|Q9UDY5	Missense_Mutation	SNP	ENST00000371666.3	37	c.542A>G	CCDS14573.1	.	.	.	.	.	.	.	.	.	.	A	11.75	1.732540	0.30684	.	.	ENSG00000131724	ENST00000371666;ENST00000371642	D;D	0.94613	-3.47;-3.47	5.59	5.59	0.84812	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.579960	0.17836	N	0.160374	D	0.93900	0.8048	L	0.48642	1.525	0.80722	D	1	D;D;P	0.54772	0.968;0.968;0.945	P;P;P	0.56434	0.798;0.798;0.781	D	0.90796	0.4690	10	0.11794	T	0.64	-7.8765	11.2154	0.48823	1.0:0.0:0.0:0.0	.	181;181;181	Q5JSL4;P78552;Q9UDY5	.;I13R1_HUMAN;.	R	181	ENSP00000360730:Q181R;ENSP00000360705:Q181R	ENSP00000360705:Q181R	Q	+	2	0	IL13RA1	117776099	1.000000	0.71417	0.774000	0.31636	0.013000	0.08279	4.194000	0.58393	1.991000	0.58162	0.483000	0.47432	CAA		0.348	IL13RA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058009.1	NM_001560		32	119	0	0	0	1	0	32	119				
SVEP1	79987	broad.mit.edu	37	9	113242030	113242030	+	Missense_Mutation	SNP	C	C	T			TCGA-SP-A6QK-01A-11D-A35I-08	TCGA-SP-A6QK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8faaac2-d88c-41c9-aa3f-c073a574a4c8	072a0cc2-5721-4b9a-a19c-dbc4f36876fd	g.chr9:113242030C>T	ENST00000401783.2	-	13	2708	c.2372G>A	c.(2371-2373)cGt>cAt	p.R791H	SVEP1_ENST00000374461.1_Missense_Mutation_p.R768H|SVEP1_ENST00000302728.8_Missense_Mutation_p.R791H|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.R768H	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	791					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GTTTGCAAAACGTTTTTCTAG	0.343																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(2371-2373)cGt>cAt		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							166.0	160.0	162.0					9																	113242030		1826	4096	5922	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113242030C>T	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.2372G>A	9.37:g.113242030C>T	ENSP00000384917:p.Arg791His					SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.R791H|SVEP1_ENST00000374469.1_Missense_Mutation_p.R768H|SVEP1_ENST00000374461.1_Missense_Mutation_p.R768H	p.R791H	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			13	2708	-			791					Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.2372G>A	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	34	5.331678	0.95733	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	T;T;T;T	0.79247	-1.08;-1.08;-1.25;1.08	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	D	0.88533	0.6462	M	0.73598	2.24	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.991;0.997;0.998	D	0.87519	0.2445	10	0.51188	T	0.08	.	19.9762	0.97309	0.0:1.0:0.0:0.0	.	791;791;791	E9PBN8;Q4LDE5;Q4LDE5-2	.;SVEP1_HUMAN;.	H	791;768;791;768	ENSP00000384917:R791H;ENSP00000363593:R768H;ENSP00000304118:R791H;ENSP00000363585:R768H	ENSP00000304118:R791H	R	-	2	0	SVEP1	112281851	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	6.999000	0.76283	2.820000	0.97059	0.650000	0.86243	CGT		0.343	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				49	132	0	0	0	1	0	49	132				
PHF7	51533	broad.mit.edu	37	3	52456806	52456806	+	Silent	SNP	C	C	T			TCGA-SP-A6QK-01A-11D-A35I-08	TCGA-SP-A6QK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8faaac2-d88c-41c9-aa3f-c073a574a4c8	072a0cc2-5721-4b9a-a19c-dbc4f36876fd	g.chr3:52456806C>T	ENST00000327906.3	+	10	1488	c.828C>T	c.(826-828)tgC>tgT	p.C276C	PHF7_ENST00000347025.2_Silent_p.C237C	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7	276						Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		GTGCTACATGCGGATCCCACG	0.532																																						ENST00000327906.3																			0				breast(2)|large_intestine(4)|lung(3)	9						c.(826-828)tgC>tgT		PHD finger protein 7							136.0	127.0	130.0					3																	52456806		2203	4300	6503	SO:0001819	synonymous_variant	51533					nucleus	zinc ion binding	g.chr3:52456806C>T	AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"""Zinc fingers, PHD-type"""	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495	ENST00000327906.3:c.828C>T	3.37:g.52456806C>T						PHF7_ENST00000478707.1_Silent_p.C276C|PHF7_ENST00000347025.2_Silent_p.C237C	p.C276C	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)	10	1488	+			276					K4DI82	Silent	SNP	ENST00000327906.3	37	c.828C>T	CCDS2854.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.820|8.820	0.937423|0.937423	0.18206|0.18206	.|.	.|.	ENSG00000010318|ENSG00000010318	ENST00000461861|ENST00000454052	.|.	.|.	.|.	6.05|6.05	-4.85|-4.85	0.03142|0.03142	.|.	.|.	.|.	.|.	.|.	T|T	0.69468|0.69468	0.3114|0.3114	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.75393|0.75393	-0.3333|-0.3333	4|5	.|0.87932	.|D	.|0	-1.8269|-1.8269	14.3904|14.3904	0.66975|0.66975	0.0:0.2677:0.0:0.7323|0.0:0.2677:0.0:0.7323	.|.	.|.	.|.	.|.	V|W	236|202	.|.	.|ENSP00000399257:R202W	A|R	+|+	2|1	0|2	PHF7|PHF7	52431846|52431846	0.002000|0.002000	0.14202|0.14202	0.681000|0.681000	0.30009|0.30009	0.919000|0.919000	0.55068|0.55068	-3.021000|-3.021000	0.00642|0.00642	-0.794000|-0.794000	0.04468|0.04468	-0.794000|-0.794000	0.03295|0.03295	GCG|CGG		0.532	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1	NM_016483		4	119	0	0	0	1	0	4	119				
TRAV8-2	28684	broad.mit.edu	37	14	22315304	22315304	+	RNA	SNP	G	G	A			TCGA-SP-A6QK-01A-11D-A35I-08	TCGA-SP-A6QK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8faaac2-d88c-41c9-aa3f-c073a574a4c8	072a0cc2-5721-4b9a-a19c-dbc4f36876fd	g.chr14:22315304G>A	ENST00000390434.3	+	0	467									T cell receptor alpha variable 8-2																		GGCATCAACGGTTTTGAGGCT	0.498											OREG0022570	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000390434.3																			0																				125.0	121.0	123.0					14																	22315304		1882	4102	5984			28684							g.chr14:22315304G>A	AE000659		14q11.2	2012-02-07			ENSG00000211786	ENSG00000211786		"""T cell receptors / TRA locus"""	12147	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000168991		14.37:g.22315304G>A			OREG0022570	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	755									0	467	+									RNA	SNP	ENST00000390434.3	37																																																																																						0.498	TRAV8-2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000401889.1	NG_001332		19	108	0	0	0	1	0	19	108				
BBS7	55212	broad.mit.edu	37	4	122774228	122774228	+	Silent	SNP	A	A	G			TCGA-SP-A6QK-01A-11D-A35I-08	TCGA-SP-A6QK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8faaac2-d88c-41c9-aa3f-c073a574a4c8	072a0cc2-5721-4b9a-a19c-dbc4f36876fd	g.chr4:122774228A>G	ENST00000264499.4	-	8	915	c.732T>C	c.(730-732)atT>atC	p.I244I	BBS7_ENST00000506636.1_Silent_p.I244I	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	244					brain development (GO:0007420)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|digestive tract morphogenesis (GO:0048546)|eye development (GO:0001654)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|limb development (GO:0060173)|melanosome transport (GO:0032402)|nonmotile primary cilium assembly (GO:0035058)|palate development (GO:0060021)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|visual perception (GO:0007601)	axoneme (GO:0005930)|BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						CAAAGCTGTCAATACACAAAA	0.333									Bardet-Biedl syndrome																													ENST00000264499.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						c.(730-732)atT>atC		Bardet-Biedl syndrome 7							110.0	96.0	101.0					4																	122774228		2203	4300	6503	SO:0001819	synonymous_variant	55212	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding	g.chr4:122774228A>G	AF521644	CCDS3724.1, CCDS54799.1	4q27	2013-01-08			ENSG00000138686	ENSG00000138686			18758	protein-coding gene	gene with protein product		607590					Standard	NM_176824		Approved	FLJ10715, BBS2L1	uc003ied.3	Q8IWZ6	OTTHUMG00000133076	ENST00000264499.4:c.732T>C	4.37:g.122774228A>G						BBS7_ENST00000506636.1_Silent_p.I244I	p.I244I	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN			8	915	-			244					Q4W5P8|Q8N581|Q9NVI4	Silent	SNP	ENST00000264499.4	37	c.732T>C	CCDS3724.1																																																																																				0.333	BBS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256716.1			14	44	0	0	0	1	0	14	44				
GAGE2A	729447	broad.mit.edu	37	X	49355893	49355893	+	Missense_Mutation	SNP	C	C	G	rs59641550		TCGA-SP-A6QK-01A-11D-A35I-08	TCGA-SP-A6QK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8faaac2-d88c-41c9-aa3f-c073a574a4c8	072a0cc2-5721-4b9a-a19c-dbc4f36876fd	g.chrX:49355893C>G	ENST00000362097.1	+	3	258	c.175C>G	c.(175-177)Cag>Gag	p.Q59E		NM_001127212.1	NP_001120684.1	Q6NT46	GAG2A_HUMAN	G antigen 2A	59								p.Q59E(8)		endometrium(4)	4	Ovarian(276;0.236)					TCAGGAGGGACAGGATGAGGG	0.562																																						ENST00000362097.1																			8	Substitution - Missense(8)	p.Q59E(8)	endometrium(8)	endometrium(4)	4						c.(175-177)Cag>Gag		G antigen 2A																																				SO:0001583	missense	729447							g.chrX:49355893C>G	U19143	CCDS48114.1	Xp11.23	2009-03-17	2007-07-23	2007-07-23	ENSG00000189064	ENSG00000189064			4099	protein-coding gene	gene with protein product	"""cancer/testis antigen family 4, member 2"""	300720	"""G antigen 2"""	GAGE2		7544395	Standard	NM_001127212		Approved	CT4.2		Q6NT46	OTTHUMG00000024143	ENST00000362097.1:c.175C>G	X.37:g.49355893C>G	ENSP00000355421:p.Gln59Glu						p.Q59E	NM_001127212.1	NP_001120684.1					3	258	+	Ovarian(276;0.236)								Missense_Mutation	SNP	ENST00000362097.1	37	c.175C>G	CCDS48114.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.861266	0.00064	.	.	ENSG00000189064	ENST00000362097	T	0.05447	3.44	0.869	-1.69	0.08186	.	.	.	.	.	T	0.00815	0.0027	N	0.00035	-2.545	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.34104	-0.9842	8	0.02654	T	1	.	3.0546	0.06180	0.33:0.2512:0.4188:0.0	.	59	Q6NT46	GAG2A_HUMAN	E	59	ENSP00000355421:Q59E	ENSP00000355421:Q59E	Q	+	1	0	GAGE2A	49242837	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-1.119000	0.03276	-1.599000	0.01605	-0.870000	0.02990	CAG		0.562	GAGE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060827.3			7	537	0	0	0	1	0	7	537				
L1CAM	3897	broad.mit.edu	37	X	153134383	153134383	+	Missense_Mutation	SNP	G	G	A			TCGA-SP-A6QK-01A-11D-A35I-08	TCGA-SP-A6QK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8faaac2-d88c-41c9-aa3f-c073a574a4c8	072a0cc2-5721-4b9a-a19c-dbc4f36876fd	g.chrX:153134383G>A	ENST00000370060.1	-	12	1481	c.1292C>T	c.(1291-1293)gCg>gTg	p.A431V	L1CAM_ENST00000538883.1_Missense_Mutation_p.A433V|L1CAM_ENST00000543994.1_Missense_Mutation_p.A433V|L1CAM_ENST00000361981.3_Missense_Mutation_p.A426V|L1CAM_ENST00000370057.3_Missense_Mutation_p.A431V|L1CAM_ENST00000361699.4_Missense_Mutation_p.A431V|L1CAM_ENST00000370055.1_Missense_Mutation_p.A426V	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	431	Ig-like C2-type 5.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGATTGTCCGCAGTCAGGAT	0.617																																						ENST00000370060.1																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(1291-1293)gCg>gTg		L1 cell adhesion molecule							128.0	97.0	107.0					X																	153134383		2203	4300	6503	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153134383G>A	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.1292C>T	X.37:g.153134383G>A	ENSP00000359077:p.Ala431Val					L1CAM_ENST00000361699.4_Missense_Mutation_p.A431V|L1CAM_ENST00000370057.3_Missense_Mutation_p.A431V|L1CAM_ENST00000370055.1_Missense_Mutation_p.A426V|L1CAM_ENST00000361981.3_Missense_Mutation_p.A426V|L1CAM_ENST00000538883.1_Missense_Mutation_p.A433V|L1CAM_ENST00000543994.1_Missense_Mutation_p.A433V	p.A431V	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN			12	1481	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		431			Ig-like C2-type 5.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.1292C>T	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	G	7.720	0.696948	0.15106	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.60424	0.19;0.2;0.19;0.21;0.23;0.23;0.19	5.53	0.212	0.15240	Immunoglobulin-like (1);	1.465370	0.04158	N	0.322492	T	0.44540	0.1298	L	0.29908	0.895	0.09310	N	1	B;B;B	0.20164	0.034;0.017;0.042	B;B;B	0.16722	0.009;0.006;0.016	T	0.34477	-0.9827	10	0.62326	D	0.03	.	4.1815	0.10378	0.0831:0.2626:0.4422:0.212	.	426;431;431	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	V	431;433;431;433;426;426;431	ENSP00000359077:A431V;ENSP00000438430:A433V;ENSP00000359074:A431V;ENSP00000439645:A433V;ENSP00000354712:A426V;ENSP00000359072:A426V;ENSP00000355380:A431V	ENSP00000355380:A431V	A	-	2	0	L1CAM	152787577	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.054000	0.14205	-0.087000	0.12528	-0.347000	0.07816	GCG		0.617	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		4	99	0	0	0	1	0	4	99				
RET	5979	broad.mit.edu	37	10	43607567	43607567	+	Missense_Mutation	SNP	T	T	A	rs377767389		TCGA-SP-A6QK-01A-11D-A35I-08	TCGA-SP-A6QK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8faaac2-d88c-41c9-aa3f-c073a574a4c8	072a0cc2-5721-4b9a-a19c-dbc4f36876fd	g.chr10:43607567T>A	ENST00000355710.3	+	8	1775	c.1543T>A	c.(1543-1545)Tgc>Agc	p.C515S	RET_ENST00000340058.5_Missense_Mutation_p.C515S	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	515					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)		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)	GGAGGCGGGCTGCCCCCTGTC	0.667		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)	0				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						c.(1543-1545)Tgc>Agc		ret proto-oncogene	Sunitinib(DB01268)						61.0	57.0	58.0					10																	43607567		2202	4296	6498	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.chr10:43607567T>A	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.1543T>A	10.37:g.43607567T>A	ENSP00000347942:p.Cys515Ser					RET_ENST00000340058.5_Missense_Mutation_p.C515S	p.C515S	NM_020975.4	NP_066124.1	P07949	RET_HUMAN			8	1775	+		Ovarian(717;0.0423)	515					A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.1543T>A	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	T	16.91	3.253583	0.59212	.	.	ENSG00000165731	ENST00000355710;ENST00000498820;ENST00000340058	T;D;T	0.98329	-1.14;-4.87;-1.25	5.73	5.73	0.89815	.	0.307999	0.41500	D	0.000867	D	0.97823	0.9285	M	0.79258	2.445	0.58432	D	0.999998	B;P;P	0.45715	0.349;0.605;0.865	B;B;P	0.46026	0.108;0.13;0.501	D	0.97682	1.0173	10	0.32370	T	0.25	.	16.0201	0.80478	0.0:0.0:0.0:1.0	.	261;515;515	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	S	515;32;515	ENSP00000347942:C515S;ENSP00000419080:C32S;ENSP00000344798:C515S	ENSP00000344798:C515S	C	+	1	0	RET	42927573	1.000000	0.71417	1.000000	0.80357	0.177000	0.22998	4.078000	0.57606	2.190000	0.69967	0.455000	0.32223	TGC		0.667	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		6	11	0	0	0	1	0	6	11				
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A	rs201972834		TCGA-SP-A6QK-01A-11D-A35I-08	TCGA-SP-A6QK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8faaac2-d88c-41c9-aa3f-c073a574a4c8	072a0cc2-5721-4b9a-a19c-dbc4f36876fd	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652																																						ENST00000557932.1																			10	Substitution - Missense(10)	p.G374S(10)	kidney(7)|prostate(2)|endometrium(1)	central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25																																														374666							g.chr15:102515299G>A			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102515299G>A														0	1145	+									RNA	SNP	ENST00000557932.1	37			.	.	.	.	.	.	.	.	.	.	g	2.376	-0.343229	0.05243	.	.	ENSG00000185596	ENST00000338304;ENST00000398121	.	.	.	1.01	1.01	0.19927	.	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	.	.	.	.	.	.	.	.	.	.	.	.	T	0.51044	-0.8755	4	.	.	.	-23.1056	7.9382	0.29941	0.0:0.0:1.0:0.0	.	.	.	.	S	383;374	.	.	G	+	1	0	WASH3P	100332822	1.000000	0.71417	0.997000	0.53966	0.230000	0.25150	8.205000	0.89743	0.863000	0.35553	0.184000	0.17185	GGC		0.652	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		3	25	0	0	0	1	0	3	25				
PDE4DIP	9659	broad.mit.edu	37	1	144863392	144863392	+	Missense_Mutation	SNP	T	T	G			TCGA-SP-A6QK-01A-11D-A35I-08	TCGA-SP-A6QK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8faaac2-d88c-41c9-aa3f-c073a574a4c8	072a0cc2-5721-4b9a-a19c-dbc4f36876fd	g.chr1:144863392T>G	ENST00000369354.3	-	37	6200	c.6011A>C	c.(6010-6012)cAg>cCg	p.Q2004P	RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.Q2089P|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.Q1898P|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.Q2140P|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.Q2004P			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2004					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTCAAAGAGCTGCTGTTTCTC	0.532			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(6418-6420)cAg>cCg		phosphodiesterase 4D interacting protein							194.0	185.0	188.0					1																	144863392		2203	4300	6503	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144863392T>G	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6011A>C	1.37:g.144863392T>G	ENSP00000358360:p.Gln2004Pro					RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.Q2004P|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.Q2004P|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.Q1898P|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.Q2089P	p.Q2140P			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	40	6457	-			2004					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.6419A>C	CCDS30824.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.86|15.86	2.958845|2.958845	0.53400|0.53400	.|.	.|.	ENSG00000178104|ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359|ENST00000530130	T;T;T;T;T|.	0.01821|.	4.62;4.72;4.72;4.73;4.73|.	4.83|4.83	3.68|3.68	0.42216|0.42216	.|.	.|.	.|.	.|.	.|.	T|T	0.47930|0.47930	0.1472|0.1472	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	D;D|.	0.56521|.	0.965;0.976|.	P;P|.	0.53649|.	0.731;0.637|.	T|T	0.47661|0.47661	-0.9100|-0.9100	9|5	0.62326|.	D|.	0.03|.	.|.	9.1081|9.1081	0.36710|0.36710	0.0:0.0943:0.0:0.9057|0.0:0.0943:0.0:0.9057	.|.	1898;2004|.	Q5VU43-3;Q5VU43|.	.;MYOME_HUMAN|.	P|R	1898;2004;2004;2089;2140|161	ENSP00000327209:Q1898P;ENSP00000358360:Q2004P;ENSP00000358363:Q2004P;ENSP00000435654:Q2089P;ENSP00000358366:Q2140P|.	ENSP00000327209:Q1898P|.	Q|S	-|-	2|1	0|0	PDE4DIP|PDE4DIP	143574749|143574749	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	1.373000|1.373000	0.34272|0.34272	1.948000|1.948000	0.56530|0.56530	0.397000|0.397000	0.26171|0.26171	CAG|AGC		0.532	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		8	166	0	0	0	1	0	8	166				
RASA3	22821	broad.mit.edu	37	13	114782724	114782724	+	Missense_Mutation	SNP	C	C	T	rs370142174		TCGA-SP-A6QK-01A-11D-A35I-08	TCGA-SP-A6QK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8faaac2-d88c-41c9-aa3f-c073a574a4c8	072a0cc2-5721-4b9a-a19c-dbc4f36876fd	g.chr13:114782724C>T	ENST00000334062.7	-	12	1316	c.1195G>A	c.(1195-1197)Gcc>Acc	p.A399T	RASA3_ENST00000389544.4_Missense_Mutation_p.A367T	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	399	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				calcium ion transmembrane transport (GO:0070588)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	calcium-release channel activity (GO:0015278)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			TCCTCGATGGCGGGCTTCAGG	0.622											OREG0022538	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000334062.7																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47						c.(1195-1197)Gcc>Acc		RAS p21 protein activator 3		C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	146.0	117.0	127.0		1195	-0.3	0.9	13		127	0,8600		0,0,4300	no	missense	RASA3	NM_007368.2	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	399/835	114782724	1,13005	2203	4300	6503	SO:0001583	missense	22821				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity	g.chr13:114782724C>T		CCDS32016.1	13q34	2013-01-10			ENSG00000185989	ENSG00000185989		"""Pleckstrin homology (PH) domain containing"""	20331	protein-coding gene	gene with protein product		605182				7637787, 9382842	Standard	NM_007368		Approved	GAP1IP4BP, GAPIII	uc001vui.3	Q14644	OTTHUMG00000017399	ENST00000334062.7:c.1195G>A	13.37:g.114782724C>T	ENSP00000335029:p.Ala399Thr		OREG0022538	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1460	RASA3_ENST00000389544.4_Missense_Mutation_p.A367T	p.A399T	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.128)		12	1316	-	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	399			Ras-GAP.		A6NL15|F8W6X8|Q8IUY2	Missense_Mutation	SNP	ENST00000334062.7	37	c.1195G>A	CCDS32016.1	.	.	.	.	.	.	.	.	.	.	C	8.051	0.766071	0.15983	2.27E-4	0.0	ENSG00000185989	ENST00000334062;ENST00000389544	T;T	0.79141	-1.24;-1.24	4.86	-0.293	0.12835	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.344807	0.31648	N	0.007281	T	0.43634	0.1256	N	0.01228	-0.945	0.80722	D	1	B	0.02656	0.0	B	0.13407	0.009	T	0.09862	-1.0655	9	.	.	.	.	8.739	0.34545	0.0:0.2969:0.0:0.7031	.	399	Q14644	RASA3_HUMAN	T	399;367	ENSP00000335029:A399T;ENSP00000374195:A367T	.	A	-	1	0	RASA3	113800826	0.943000	0.32029	0.862000	0.33874	0.169000	0.22640	0.809000	0.27168	-0.301000	0.08882	-0.136000	0.14681	GCC		0.622	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045957.2	NM_007368		4	126	0	0	0	1	0	4	126				
NCOA7	135112	broad.mit.edu	37	6	126210125	126210125	+	Missense_Mutation	SNP	G	G	C			TCGA-SP-A6QK-01A-11D-A35I-08	TCGA-SP-A6QK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8faaac2-d88c-41c9-aa3f-c073a574a4c8	072a0cc2-5721-4b9a-a19c-dbc4f36876fd	g.chr6:126210125G>C	ENST00000368357.3	+	10	1277	c.925G>C	c.(925-927)Gaa>Caa	p.E309Q	NCOA7_ENST00000229634.9_Missense_Mutation_p.E194Q|NCOA7_ENST00000392477.2_Missense_Mutation_p.E309Q	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	309					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		CAGGCCTGGAGAATGGGAAGA	0.408																																						ENST00000368357.3																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39						c.(925-927)Gaa>Caa		nuclear receptor coactivator 7							96.0	100.0	98.0					6																	126210125		2203	4300	6503	SO:0001583	missense	135112				cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:126210125G>C	AJ420542	CCDS5132.1, CCDS56448.1	6q22.33	2013-03-14			ENSG00000111912	ENSG00000111912			21081	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 4"""	609752				11971969	Standard	NM_001199619		Approved	ERAP140, dJ187J11.3, TLDC4	uc003qai.3	Q8NI08	OTTHUMG00000015513	ENST00000368357.3:c.925G>C	6.37:g.126210125G>C	ENSP00000357341:p.Glu309Gln					NCOA7_ENST00000392477.2_Missense_Mutation_p.E309Q|NCOA7_ENST00000229634.9_Missense_Mutation_p.E194Q	p.E309Q	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)	10	1277	+			309					B2RNS2|B7Z2C4|B9EH71|G8JL91|Q3LID6|Q4G0V1|Q5TF95|Q6IPQ4|Q6NE83|Q86T89|Q8N1W4	Missense_Mutation	SNP	ENST00000368357.3	37	c.925G>C	CCDS5132.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.027791	0.93518	.	.	ENSG00000111912	ENST00000368357;ENST00000392477;ENST00000229634;ENST00000413085	T;T;T;T	0.35421	2.42;2.42;2.59;1.31	5.7	5.7	0.88788	.	0.098474	0.64402	D	0.000002	T	0.45377	0.1339	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.96	T	0.37596	-0.9699	10	0.59425	D	0.04	3.7302	20.2246	0.98337	0.0:0.0:1.0:0.0	.	298;298;309	B3KXK4;Q8NI08-2;Q8NI08	.;.;NCOA7_HUMAN	Q	309;309;194;107	ENSP00000357341:E309Q;ENSP00000376269:E309Q;ENSP00000229634:E194Q;ENSP00000389186:E107Q	ENSP00000229634:E194Q	E	+	1	0	NCOA7	126251818	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.820000	0.99359	2.861000	0.98227	0.655000	0.94253	GAA		0.408	NCOA7-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042083.4	XM_059748		4	180	0	0	0	1	0	4	180				
IGHV4-61	28391	broad.mit.edu	37	14	107095454	107095454	+	RNA	SNP	A	A	G	rs199512044	byFrequency	TCGA-SP-A6QK-01A-11D-A35I-08	TCGA-SP-A6QK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8faaac2-d88c-41c9-aa3f-c073a574a4c8	072a0cc2-5721-4b9a-a19c-dbc4f36876fd	g.chr14:107095454A>G	ENST00000390630.2	-	0	147				RNA5SP389_ENST00000362610.1_RNA					immunoglobulin heavy variable 4-61																		AGAGACCCACAGTGAGCCCTG	0.617																																						ENST00000390630.2																			0																				19.0	36.0	31.0					14																	107095454		1772	4034	5806			28391							g.chr14:107095454A>G	M29811		14q32.33	2012-02-08			ENSG00000211970	ENSG00000211970		"""Immunoglobulins / IGH locus"""	5655	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151976		14.37:g.107095454A>G														0	147	-									RNA	SNP	ENST00000390630.2	37																																																																																						0.617	IGHV4-61-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324623.1	NG_001019		4	30	0	0	0	1	0	4	30				
KLK12	43849	broad.mit.edu	37	19	51534095	51534095	+	Silent	SNP	G	G	A			TCGA-SP-A6QK-01A-11D-A35I-08	TCGA-SP-A6QK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8faaac2-d88c-41c9-aa3f-c073a574a4c8	072a0cc2-5721-4b9a-a19c-dbc4f36876fd	g.chr19:51534095G>A	ENST00000525263.1	-	4	659	c.540C>T	c.(538-540)atC>atT	p.I180I	KLK12_ENST00000319590.4_Silent_p.I180I|KLK12_ENST00000250352.11_Silent_p.I70I|CTC-518B2.9_ENST00000594910.1_RNA|KLK12_ENST00000529888.1_Missense_Mutation_p.H94Y|KLK11_ENST00000391804.3_5'Flank|KLK11_ENST00000319720.7_5'Flank|KLK12_ENST00000250351.4_Silent_p.I180I			Q9UKR0	KLK12_HUMAN	kallikrein-related peptidase 12	180	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		TGTTGCTCGTGATTCTCCCGG	0.622																																						ENST00000529888.1																			0				endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12						c.(280-282)Cac>Tac		kallikrein-related peptidase 12							162.0	148.0	153.0					19																	51534095		2203	4300	6503	SO:0001819	synonymous_variant	43849				proteolysis	extracellular region|soluble fraction	serine-type endopeptidase activity	g.chr19:51534095G>A		CCDS12820.1, CCDS12821.1, CCDS54298.1	19q13.33	2008-02-05	2006-10-27		ENSG00000186474	ENSG00000186474		"""Kallikreins"""	6360	protein-coding gene	gene with protein product		605539	"""kallikrein 12"""			16800724, 16800723	Standard	NM_019598		Approved	KLK-L5	uc002pvh.1	Q9UKR0	OTTHUMG00000165806	ENST00000525263.1:c.540C>T	19.37:g.51534095G>A						CTC-518B2.9_ENST00000594910.1_RNA|KLK12_ENST00000525263.1_Silent_p.I180I|KLK12_ENST00000319590.4_Silent_p.I180I|KLK12_ENST00000250351.4_Silent_p.I180I|KLK12_ENST00000250352.11_Silent_p.I70I	p.H94Y	NM_145895.1	NP_665902.1	Q9UKR0	KLK12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)	4	355	-		all_neural(266;0.026)	0			Peptidase S1.		Q9UKR1|Q9UKR2	Missense_Mutation	SNP	ENST00000525263.1	37	c.280C>T	CCDS12821.1	.	.	.	.	.	.	.	.	.	.	g	6.807	0.517870	0.13005	.	.	ENSG00000186474	ENST00000529888	D	0.83075	-1.68	4.37	2.02	0.26589	.	.	.	.	.	T	0.72645	0.3486	.	.	.	0.80722	D	1	B	0.24043	0.096	B	0.21708	0.036	T	0.67173	-0.5737	8	0.41790	T	0.15	.	6.6077	0.22734	0.1183:0.1989:0.6828:0.0	.	94	Q9UKR2	.	Y	94	ENSP00000434036:H94Y	ENSP00000434036:H94Y	H	-	1	0	KLK12	56225907	1.000000	0.71417	0.990000	0.47175	0.228000	0.25075	1.116000	0.31221	1.009000	0.39289	0.305000	0.20034	CAC		0.622	KLK12-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000386288.1	NM_019598		61	128	0	0	0	1	0	61	128				
RP11-13J8.1	0	broad.mit.edu	37	2	201967217	201967218	+	lincRNA	DEL	AG	AG	-	rs371047928|rs368317583		TCGA-SP-A6QK-01A-11D-A35I-08	TCGA-SP-A6QK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8faaac2-d88c-41c9-aa3f-c073a574a4c8	072a0cc2-5721-4b9a-a19c-dbc4f36876fd	g.chr2:201967217_201967218delAG	ENST00000448256.1	+	0	627_628																											aaaaaaaaaaagaaTTTGTTCT	0.46																																						ENST00000448256.1																			0																																																			0							g.chr2:201967217_201967218delAG																													2.37:g.201967217_201967218delAG														0	627_628	+									RNA	DEL	ENST00000448256.1	37																																																																																						0.460	RP11-13J8.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000347397.1			5	8						5	8	---	---	---	---
CASP8AP2	9994	broad.mit.edu	37	6	90556398	90556398	+	RNA	DEL	T	T	-	rs375626099		TCGA-SP-A6QK-01A-11D-A35I-08	TCGA-SP-A6QK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8faaac2-d88c-41c9-aa3f-c073a574a4c8	072a0cc2-5721-4b9a-a19c-dbc4f36876fd	g.chr6:90556398delT	ENST00000551025.1	+	0	1492									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TCTAAtttccttttttttttt	0.418																																					Colon(187;1656 2025 17045 31481 39901)	ENST00000551025.1																			0				NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51								caspase 8 associated protein 2							86.0	82.0	83.0					6																	90556398		1832	4090	5922			9994				cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	g.chr6:90556398delT	AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90556398delT										Q9UKL3	C8AP2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0953)	0	1492	+		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)							RNA	DEL	ENST00000551025.1	37																																																																																						0.418	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667		3	4						3	4	---	---	---	---
ZNF484	83744	broad.mit.edu	37	9	95609713	95609713	+	Frame_Shift_Del	DEL	T	T	-			TCGA-SP-A6QK-01A-11D-A35I-08	TCGA-SP-A6QK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8faaac2-d88c-41c9-aa3f-c073a574a4c8	072a0cc2-5721-4b9a-a19c-dbc4f36876fd	g.chr9:95609713delT	ENST00000375495.3	-	5	1504	c.1356delA	c.(1354-1356)aaafs	p.K452fs	ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395505.2_Frame_Shift_Del_p.K416fs|ZNF484_ENST00000332591.6_Frame_Shift_Del_p.K416fs|ZNF484_ENST00000395506.3_Frame_Shift_Del_p.K454fs	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	452					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(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						GGAGTTGTGATTTTTTAATAA	0.383																																						ENST00000395505.2																			0				NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						c.(1246-1248)aafs		zinc finger protein 484							76.0	76.0	76.0					9																	95609713		2203	4300	6503	SO:0001589	frameshift_variant	83744				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:95609713delT	AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"""Zinc fingers, C2H2-type"", ""-"""	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.1356delA	9.37:g.95609713delT	ENSP00000364645:p.Lys452fs					ZNF484_ENST00000375495.3_Frame_Shift_Del_p.K452fs|ZNF484_ENST00000395506.3_Frame_Shift_Del_p.K454fs|ZNF484_ENST00000332591.6_Frame_Shift_Del_p.K416fs|ANKRD19P_ENST00000473204.1_RNA	p.K416fs	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN			3	1340	-			452					B1AL89|B4DRI2	Frame_Shift_Del	DEL	ENST00000375495.3	37	c.1248delA	CCDS35066.1																																																																																				0.383	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053111.2	XM_046861		19	83						19	83	---	---	---	---
MYO15A	51168	broad.mit.edu	37	17	18023292	18023293	+	Frame_Shift_Ins	INS	-	-	C			TCGA-SP-A6QK-01A-11D-A35I-08	TCGA-SP-A6QK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8faaac2-d88c-41c9-aa3f-c073a574a4c8	072a0cc2-5721-4b9a-a19c-dbc4f36876fd	g.chr17:18023292_18023293insC	ENST00000205890.5	+	2	1516_1517	c.1178_1179insC	c.(1177-1182)taccccfs	p.YP393fs		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	393					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GAGGCCATCTACCCCCCCGAGG	0.619																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(1177-1179)tccfs		myosin XVA				4,3628		0,4,1812						5.4	1.0			79	3,7851		0,3,3924	no	frameshift	MYO15A	NM_016239.3		0,7,5736	A1A1,A1R,RR		0.0382,0.1101,0.0609				7,11479				SO:0001589	frameshift_variant	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18023292_18023293insC	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.1185dupC	17.37:g.18023299_18023299dupC	ENSP00000205890:p.Tyr393fs						p.S393fs	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			2	1516_1517	+	all_neural(463;0.228)		393			Myosin head-like.		B4DFC7	Frame_Shift_Ins	INS	ENST00000205890.5	37	c.1178_1179insC	CCDS42271.1																																																																																				0.619	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		7	141						7	141	---	---	---	---
RP13-329D4.3	0	broad.mit.edu	37	20	26113543	26113543	+	lincRNA	DEL	A	A	-	rs375245697		TCGA-SP-A6QK-01A-11D-A35I-08	TCGA-SP-A6QK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8faaac2-d88c-41c9-aa3f-c073a574a4c8	072a0cc2-5721-4b9a-a19c-dbc4f36876fd	g.chr20:26113543delA	ENST00000416563.1	-	0	250																											TCTTTGCCTTAACAACATTAT	0.363																																						ENST00000416563.1																			0																																																			0							g.chr20:26113543delA																													20.37:g.26113543delA														0	250	-									RNA	DEL	ENST00000416563.1	37																																																																																						0.363	RP13-329D4.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000078482.1			3	6						3	6	---	---	---	---
