#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
EPHA8	2046	broad.mit.edu	37	1	22927229	22927229	+	Missense_Mutation	SNP	T	T	C			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr1:22927229T>C	ENST00000166244.3	+	14	2536	c.2464T>C	c.(2464-2466)Tgg>Cgg	p.W822R		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	822	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CAGCGACGTGTGGAGCTTCGG	0.657																																						uc001bfx.1																			0				central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13						c.(2464-2466)TGG>CGG		ephrin receptor EphA8 isoform 1 precursor							80.0	84.0	83.0					1																	22927229		2203	4300	6503	SO:0001583	missense	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22927229T>C	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.2464T>C	1.37:g.22927229T>C	ENSP00000166244:p.Trp822Arg						p.W822R	NM_020526	NP_065387	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	14	2589	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	822			Cytoplasmic (Potential).|Protein kinase.		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	ENST00000166244.3	37	c.2464T>C	CCDS225.1	.	.	.	.	.	.	.	.	.	.	t	23.0	4.368591	0.82463	.	.	ENSG00000070886	ENST00000166244	T	0.74421	-0.84	4.77	4.77	0.60923	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.90242	0.6949	H	0.97186	3.955	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93083	0.6493	10	0.87932	D	0	.	13.264	0.60122	0.0:0.0:0.0:1.0	.	822	P29322	EPHA8_HUMAN	R	822	ENSP00000166244:W822R	ENSP00000166244:W822R	W	+	1	0	EPHA8	22799816	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.865000	0.87049	2.008000	0.58898	0.454000	0.30748	TGG		0.657	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526	
ABCD3	5825	broad.mit.edu	37	1	94965170	94965170	+	Splice_Site	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr1:94965170G>A	ENST00000370214.4	+	20	1764	c.1740G>A	c.(1738-1740)gcG>gcA	p.A580A	ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000394233.2_Splice_Site_p.A470A|ABCD3_ENST00000536817.1_Splice_Site_p.A507A|ABCD3_ENST00000454898.2_Splice_Site_p.A604A	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	580	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		AAAGAATGGCGGTAAGTATAC	0.418																																						uc001dqn.3																			0				skin(1)	1						c.(1738-1740)GCG>GCA		ATP-binding cassette, sub-family D, member 3							154.0	129.0	138.0					1																	94965170		2203	4300	6503	SO:0001630	splice_region_variant	5825				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94965170G>A	M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"""ATP binding cassette transporters / subfamily D"""	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.1740+1G>A	1.37:g.94965170G>A						ABCD3_uc010oto.1_Silent_p.A604A|ABCD3_uc010otp.1_Silent_p.A507A|ABCD3_uc009wdr.2_Silent_p.A470A|ABCD3_uc001dqo.3_Silent_p.A268A	p.A580A	NM_002858	NP_002849	P28288	ABCD3_HUMAN		all cancers(265;0.0261)|Epithelial(280;0.165)	20	1842	+		all_lung(203;0.000434)|Lung NSC(277;0.0019)	580			ABC transporter.		D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	Silent	SNP	ENST00000370214.4	37	c.1740G>A	CCDS749.1																																																																																				0.418	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029597.1	NM_002858	Silent
FCRL5	83416	broad.mit.edu	37	1	157490328	157490328	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr1:157490328G>A	ENST00000361835.3	-	12	2682	c.2525C>T	c.(2524-2526)gCg>gTg	p.A842V	FCRL5_ENST00000461387.1_5'UTR|FCRL5_ENST00000356953.4_Missense_Mutation_p.A842V	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	842					negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				ACTTCTGTTCGCGGTCAGCCC	0.657																																						uc001fqu.2																			0				ovary(3)|breast(2)|central_nervous_system(1)	6						c.(2524-2526)GCG>GTG		Fc receptor-like 5							15.0	16.0	15.0					1																	157490328		2201	4294	6495	SO:0001583	missense	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157490328G>A	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.2525C>T	1.37:g.157490328G>A	ENSP00000354691:p.Ala842Val					FCRL5_uc009wsm.2_Missense_Mutation_p.A842V	p.A842V	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN			12	2683	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	842			Extracellular (Potential).		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	c.2525C>T	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.772999	0.31411	.	.	ENSG00000143297	ENST00000361835;ENST00000356953	T;T	0.45276	0.9;0.9	4.85	-2.18	0.07037	.	.	.	.	.	T	0.05823	0.0152	N	0.08118	0	0.09310	N	1	B;B	0.19935	0.04;0.04	B;B	0.09377	0.004;0.004	T	0.37220	-0.9715	9	0.22706	T	0.39	.	5.8544	0.18712	0.0:0.4578:0.1479:0.3943	.	842;842	A6NJE8;Q96RD9	.;FCRL5_HUMAN	V	842	ENSP00000354691:A842V;ENSP00000349434:A842V	ENSP00000349434:A842V	A	-	2	0	FCRL5	155756952	0.004000	0.15560	0.000000	0.03702	0.001000	0.01503	-0.166000	0.09954	-0.682000	0.05197	-1.367000	0.01198	GCG		0.657	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281	
SPTA1	6708	broad.mit.edu	37	1	158615013	158615013	+	Missense_Mutation	SNP	G	G	A	rs372067263		TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr1:158615013G>A	ENST00000368147.4	-	29	4339	c.4159C>T	c.(4159-4161)Cgc>Tgc	p.R1387C		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1387					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATCTTCTTGCGTTTTTCCCAA	0.433																																						uc001fst.1																			0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(4159-4161)CGC>TGC		spectrin, alpha, erythrocytic 1		G	CYS/ARG	0,3822		0,0,1911	192.0	171.0	178.0		4159	4.1	1.0	1		178	2,8260		0,2,4129	no	missense	SPTA1	NM_003126.2	180	0,2,6040	AA,AG,GG		0.0242,0.0,0.0166	probably-damaging	1387/2420	158615013	2,12082	1911	4131	6042	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158615013G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4159C>T	1.37:g.158615013G>A	ENSP00000357129:p.Arg1387Cys						p.R1387C	NM_003126	NP_003117	P02549	SPTA1_HUMAN			29	4358	-	all_hematologic(112;0.0378)		1387			Spectrin 13.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.4159C>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.192338	0.78902	0.0	2.42E-4	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.61510	0.1;0.1	5.03	4.09	0.47781	.	0.985820	0.08185	N	0.984791	T	0.74928	0.3781	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73007	-0.4118	10	0.87932	D	0	.	13.7975	0.63180	0.0:0.0:0.8455:0.1545	.	1387	P02549	SPTA1_HUMAN	C	1387	ENSP00000357130:R1387C;ENSP00000357129:R1387C	ENSP00000357129:R1387C	R	-	1	0	SPTA1	156881637	1.000000	0.71417	0.985000	0.45067	0.930000	0.56654	7.064000	0.76721	1.427000	0.47276	0.650000	0.86243	CGC		0.433	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
CFHR2	3080	broad.mit.edu	37	1	196887346	196887346	+	Intron	SNP	G	G	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr1:196887346G>T	ENST00000367421.3	+	2	135				CFHR4_ENST00000367416.2_Missense_Mutation_p.C515F|CFHR4_ENST00000367418.2_Missense_Mutation_p.C269F|CFHR4_ENST00000608469.1_Missense_Mutation_p.C139F|CFHR4_ENST00000251424.4_Missense_Mutation_p.C269F			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						TCAGATCCATGTATAATAACT	0.264																																						uc001gto.2																			0				ovary(1)|pancreas(1)|skin(1)	3						c.(805-807)TGT>TTT		complement factor H-related 4 precursor							37.0	42.0	40.0					1																	196887346		2168	4285	6453	SO:0001627	intron_variant	10877					extracellular region	lipid transporter activity	g.chr1:196887346G>T	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367421.3:c.59-31239G>T	1.37:g.196887346G>T						CFHR4_uc009wyy.2_Missense_Mutation_p.C515F|CFHR4_uc001gtp.2_Missense_Mutation_p.C516F	p.C269F	NM_006684	NP_006675	Q92496	FHR4_HUMAN			6	875	+			269			Sushi 5.		Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367421.3	37	c.806G>T		.	.	.	.	.	.	.	.	.	.	G	14.19	2.462806	0.43736	.	.	ENSG00000134365	ENST00000367416;ENST00000367418;ENST00000251424;ENST00000538553	D;D;D	0.99462	-5.94;-5.94;-5.94	3.24	2.31	0.28768	Complement control module (1);	.	.	.	.	D	0.99417	0.9794	M	0.88031	2.925	0.27414	N	0.95447	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.75484	0.95;0.986;0.964	D	0.97142	0.9825	9	0.59425	D	0.04	.	6.5821	0.22600	0.1481:0.0:0.8519:0.0	.	515;516;269	C9J7J7;Q5DVJ7;Q92496	.;.;FHR4_HUMAN	F	515;269;269;269	ENSP00000356386:C515F;ENSP00000356388:C269F;ENSP00000251424:C269F	ENSP00000251424:C269F	C	+	2	0	CFHR4	195153969	1.000000	0.71417	0.699000	0.30290	0.403000	0.30841	3.888000	0.56204	0.466000	0.27193	0.436000	0.28706	TGT		0.264	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005666	
OR2AK2	391191	broad.mit.edu	37	1	248129572	248129572	+	Silent	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr1:248129572G>A	ENST00000366480.3	+	1	1038	c.939G>A	c.(937-939)acG>acA	p.T313T	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	313						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T313T(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			AGGAAGTGACGGGGGCAGTGA	0.433																																					Melanoma(45;390 1181 23848 28461 41504)	uc010pzd.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(937-939)ACG>ACA		olfactory receptor, family 2, subfamily AK,							102.0	97.0	99.0					1																	248129572		2203	4300	6503	SO:0001819	synonymous_variant	391191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248129572G>A	BK004457	CCDS31102.1	1q44	2012-08-09			ENSG00000187080	ENSG00000187080		"""GPCR / Class A : Olfactory receptors"""	19569	protein-coding gene	gene with protein product				OR2AK1P			Standard	NM_001004491		Approved		uc010pzd.2	Q8NG84	OTTHUMG00000040201	ENST00000366480.3:c.939G>A	1.37:g.248129572G>A						OR2L13_uc001ids.2_Intron	p.T313T	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	939	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		313			Cytoplasmic (Potential).		B2RND1|Q6IF05	Silent	SNP	ENST00000366480.3	37	c.939G>A	CCDS31102.1																																																																																				0.433	OR2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096858.2	NM_001004491	
OR2M1P	388762	broad.mit.edu	37	1	248285695	248285695	+	IGR	SNP	A	A	G			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr1:248285695A>G								OR2L13 (21471 upstream) : OR2M5 (22754 downstream)																							TGGGCTCTACAGATGGAATCA	0.453																																						uc001idy.1																			0					0						c.(256-258)ACA>ACG		RecName: Full=Olfactory receptor 2M5;																																				SO:0001628	intergenic_variant	388762							g.chr1:248285695A>G																													1.37:g.248285695A>G							p.T86T	NR_002141						1	258	+									Silent	SNP		37	c.258A>G																																																																																				0	0.453								
ADARB2	105	broad.mit.edu	37	10	1262895	1262895	+	Missense_Mutation	SNP	C	C	T	rs142663256	byFrequency	TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr10:1262895C>T	ENST00000381312.1	-	7	2003	c.1678G>A	c.(1678-1680)Gcc>Acc	p.A560T	ADARB2_ENST00000469464.1_5'UTR	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	560	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)	p.A560T(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CCTCACCTGGCGATCTTGTCC	0.677													C|||	18	0.00359425	0.0136	0.0	5008	,	,		17249	0.0		0.0	False		,,,				2504	0.0					uc009xhq.2																			1	Substitution - Missense(1)		endometrium(1)	large_intestine(2)|central_nervous_system(1)	3						c.(1678-1680)GCC>ACC		adenosine deaminase, RNA-specific, B2		C	THR/ALA	33,4371	38.4+/-70.7	0,33,2169	47.0	41.0	43.0		1678	5.3	1.0	10	dbSNP_134	43	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ADARB2	NM_018702.3	58	0,34,6468	TT,TC,CC		0.0116,0.7493,0.2615	possibly-damaging	560/740	1262895	34,12970	2202	4300	6502	SO:0001583	missense	105				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	g.chr10:1262895C>T	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.1678G>A	10.37:g.1262895C>T	ENSP00000370713:p.Ala560Thr						p.A560T	NM_018702	NP_061172	Q9NS39	RED2_HUMAN		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	7	2052	-		all_epithelial(10;0.059)|Colorectal(49;0.0815)	560			A to I editase.		B2RPJ5|Q5VUT6|Q5VW42	Missense_Mutation	SNP	ENST00000381312.1	37	c.1678G>A	CCDS7058.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.332900	0.41297	0.007493	1.16E-4	ENSG00000185736	ENST00000381312	D	0.94650	-3.48	5.3	5.3	0.74995	Adenosine deaminase/editase (3);	0.124866	0.64402	D	0.000015	D	0.86916	0.6048	L	0.38953	1.18	0.80722	D	1	P	0.43477	0.808	B	0.36567	0.228	D	0.88507	0.3086	10	0.52906	T	0.07	.	12.3329	0.55049	0.0:0.9224:0.0:0.0776	.	560	Q9NS39	RED2_HUMAN	T	560	ENSP00000370713:A560T	ENSP00000370713:A560T	A	-	1	0	ADARB2	1252895	0.985000	0.35326	0.961000	0.40146	0.301000	0.27625	2.456000	0.44997	2.482000	0.83794	0.305000	0.20034	GCC		0.677	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702	
GDF10	2662	broad.mit.edu	37	10	48429388	48429388	+	Silent	SNP	C	C	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr10:48429388C>T	ENST00000224605.2	-	2	763	c.498G>A	c.(496-498)ccG>ccA	p.P166P		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	166					fat cell differentiation (GO:0045444)|growth (GO:0040007)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						GGCGTGTGGGCGGGCCCAGGG	0.726																																						uc001jfb.2																			0				lung(1)|central_nervous_system(1)	2						c.(496-498)CCG>CCA		growth differentiation factor 10 precursor							16.0	23.0	20.0					10																	48429388		2192	4289	6481	SO:0001819	synonymous_variant	2662				growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr10:48429388C>T	L42113	CCDS73117.1	10q11.22	2014-04-10			ENSG00000107623	ENSG00000266524		"""Endogenous ligands"""	4215	protein-coding gene	gene with protein product		601361				8679252	Standard	NM_004962		Approved	BMP-3b	uc001jfb.3	P55107	OTTHUMG00000188319	ENST00000224605.2:c.498G>A	10.37:g.48429388C>T						GDF10_uc009xnp.2_Silent_p.P165P|GDF10_uc009xnq.1_Silent_p.P166P	p.P166P	NM_004962	NP_004953	P55107	BMP3B_HUMAN			2	954	-			166					Q5VSQ8|Q9UCX6	Silent	SNP	ENST00000224605.2	37	c.498G>A	CCDS7220.1																																																																																				0.726	GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047884.1	NM_004962	
MAT1A	4143	broad.mit.edu	37	10	82034333	82034333	+	Missense_Mutation	SNP	C	C	T	rs370173781		TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr10:82034333C>T	ENST00000372213.3	-	8	1288	c.1028G>A	c.(1027-1029)cGa>cAa	p.R343Q	MAT1A_ENST00000485270.1_5'UTR	NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	343					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)	p.R343Q(1)		endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	CAGCAGCTCTCGCTCTGTCTT	0.557																																						uc001kbw.2																			1	Substitution - Missense(1)		large_intestine(1)		0						c.(1027-1029)CGA>CAA		methionine adenosyltransferase I, alpha	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	173.0	156.0	162.0		1028	-0.8	0.0	10		162	0,8600		0,0,4300	no	missense	MAT1A	NM_000429.2	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	343/396	82034333	1,13005	2203	4300	6503	SO:0001583	missense	4143				methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity	g.chr10:82034333C>T		CCDS7365.1	10q22	2008-08-01			ENSG00000151224	ENSG00000151224			6903	protein-coding gene	gene with protein product	"""S-adenosylmethionine synthetase"""	610550				8393662	Standard	XM_005269842		Approved	MAT, SAMS, MATA1, SAMS1	uc001kbw.3	Q00266	OTTHUMG00000018613	ENST00000372213.3:c.1028G>A	10.37:g.82034333C>T	ENSP00000361287:p.Arg343Gln						p.R343Q	NM_000429	NP_000420	Q00266	METK1_HUMAN	Colorectal(32;0.229)		8	1283	-			343					D3DWD5|Q5QP09	Missense_Mutation	SNP	ENST00000372213.3	37	c.1028G>A	CCDS7365.1	.	.	.	.	.	.	.	.	.	.	C	11.18	1.561415	0.27915	2.27E-4	0.0	ENSG00000151224	ENST00000372213;ENST00000372206	D	0.97620	-4.46	5.09	-0.771	0.11002	S-adenosylmethionine synthetase, C-terminal (1);S-adenosylmethionine synthetase superfamily (1);	0.428221	0.25422	N	0.030793	D	0.89891	0.6846	N	0.10733	0.035	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.81801	-0.0766	10	0.45353	T	0.12	-1.5604	9.6003	0.39601	0.0:0.4489:0.0:0.5511	.	343	Q00266	METK1_HUMAN	Q	343	ENSP00000361287:R343Q	ENSP00000361280:R343Q	R	-	2	0	MAT1A	82024313	0.000000	0.05858	0.007000	0.13788	0.572000	0.35998	-0.785000	0.04628	-0.194000	0.10399	-0.797000	0.03246	CGA		0.557	MAT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049070.1	NM_000429	
PTEN	5728	broad.mit.edu	37	10	89720670	89720671	+	Missense_Mutation	DNP	GG	GG	CT	rs587782607		TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr10:89720670_89720671GG>CT	ENST00000371953.3	+	8	2178_2179	c.821_822GG>CT	c.(820-822)tGG>tCT	p.W274S	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	274	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.W274*(7)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.W274_F341del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTTCACTTTTGGGTAAATACAT	0.267		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.2		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	D|Mis|N|F|S	phosphatase and tensin homolog gene			"""L, E, M, O"""		harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial		57	Whole gene deletion(37)|Deletion - Frameshift(9)|Substitution - Nonsense(7)|Deletion - In frame(2)|Unknown(2)	p.W274*(6)|p.R55fs*1(4)|p.?(2)|p.W274fs*2(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.D268_F279>VGQNVSLLGKYI(2)|p.G165_*404del(1)|p.W274G(1)|p.W274_F341del(1)|p.W274R(1)|p.G165_K342del(1)	central_nervous_system(16)|prostate(16)|haematopoietic_and_lymphoid_tissue(6)|skin(6)|lung(4)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334						c.(820-822)TGG>TCT		phosphatase and tensin homolog																																				SO:0001583	missense	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89720670_89720671GG>CT	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	Exception_encountered	10.37:g.89720670_89720671delinsCT	ENSP00000361021:p.Trp274Ser	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.W274S	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	9	1852_1853	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	274			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	DNP	ENST00000371953.3	37	c.821_822GG>CT	CCDS31238.1																																																																																				0.267	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
AFAP1L2	84632	broad.mit.edu	37	10	116062141	116062141	+	Missense_Mutation	SNP	C	C	T	rs540007841	byFrequency	TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr10:116062141C>T	ENST00000304129.4	-	12	1416	c.1387G>A	c.(1387-1389)Gat>Aat	p.D463N	AFAP1L2_ENST00000545353.1_Missense_Mutation_p.D516N|AFAP1L2_ENST00000491814.1_5'Flank|AFAP1L2_ENST00000369271.3_Missense_Mutation_p.D463N			Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	463					inflammatory response (GO:0006954)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of interleukin-6 production (GO:0032675)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	protein tyrosine kinase activator activity (GO:0030296)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		GAGACCCTATCGGCATCCACA	0.527													C|||	2	0.000399361	0.0	0.0014	5008	,	,		18661	0.0		0.0	False		,,,				2504	0.001					uc001lbn.2																			0				ovary(1)|breast(1)	2						c.(1387-1389)GAT>AAT		KIAA1914 protein isoform 1							150.0	164.0	159.0					10																	116062141		2203	4300	6503	SO:0001583	missense	84632				inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding	g.chr10:116062141C>T	BC024314	CCDS31286.1, CCDS31287.1	10q26.11	2013-01-10	2007-02-07	2007-02-07	ENSG00000169129	ENSG00000169129		"""Pleckstrin homology (PH) domain containing"""	25901	protein-coding gene	gene with protein product		612420	"""KIAA1914"""	KIAA1914		11572484, 17412687	Standard	XM_005270239		Approved	FLJ14564, Em:AC005383.4, XB130	uc001lbn.3	Q8N4X5	OTTHUMG00000019086	ENST00000304129.4:c.1387G>A	10.37:g.116062141C>T	ENSP00000303042:p.Asp463Asn					AFAP1L2_uc001lbo.2_Missense_Mutation_p.D463N|AFAP1L2_uc010qse.1_Missense_Mutation_p.D516N|AFAP1L2_uc001lbp.2_Missense_Mutation_p.D491N|AFAP1L2_uc001lbr.1_Missense_Mutation_p.D463N|AFAP1L2_uc001lbm.2_5'Flank|AFAP1L2_uc010qsd.1_Missense_Mutation_p.D29N|AFAP1L2_uc001lbq.1_5'Flank	p.D463N	NM_001001936	NP_001001936	Q8N4X5	AF1L2_HUMAN		Epithelial(162;0.0219)|all cancers(201;0.0561)	12	1688	-		Colorectal(252;0.175)|Breast(234;0.231)	463					A8K6P7|B3KVQ8|Q2UZW3|Q8TB54|Q96PX4|Q96SY5	Missense_Mutation	SNP	ENST00000304129.4	37	c.1387G>A	CCDS31286.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.219542	0.79464	.	.	ENSG00000169129	ENST00000369271;ENST00000304129;ENST00000392974;ENST00000545353	T;T;T	0.29917	1.55;1.55;1.55	5.67	4.72	0.59763	.	0.290735	0.37178	N	0.002204	T	0.48840	0.1522	M	0.67953	2.075	0.39781	D	0.972308	D;B;D;D;D;D	0.69078	0.997;0.131;0.995;0.99;0.995;0.992	P;B;P;P;P;P	0.58873	0.808;0.042;0.647;0.847;0.808;0.647	T	0.55976	-0.8055	10	0.87932	D	0	-25.2235	13.6338	0.62210	0.0:0.9218:0.0:0.0782	.	516;29;517;491;463;463	F5GZE1;B7Z363;B7Z2Q0;Q8N4X5-4;Q8N4X5-2;Q8N4X5	.;.;.;.;.;AF1L2_HUMAN	N	463;463;490;516	ENSP00000358276:D463N;ENSP00000303042:D463N;ENSP00000444511:D516N	ENSP00000303042:D463N	D	-	1	0	AFAP1L2	116052131	1.000000	0.71417	0.803000	0.32268	0.803000	0.45373	4.953000	0.63624	1.310000	0.45006	-0.345000	0.07892	GAT		0.527	AFAP1L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050462.1	NM_032550	
LMNTD2	256329	broad.mit.edu	37	11	556891	556891	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr11:556891C>T	ENST00000329451.3	-	8	982	c.920G>A	c.(919-921)cGc>cAc	p.R307H	RP11-496I9.1_ENST00000527620.1_RNA|RP11-496I9.1_ENST00000527113.1_RNA	NM_173573.2	NP_775844.2	Q8IXW0	LMTD2_HUMAN		307										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGAGGAAGCGCGGTGGTCCCG	0.692																																						uc001lpx.2																			0				pancreas(1)	1						c.(919-921)CGC>CAC		hypothetical protein LOC256329							13.0	16.0	15.0					11																	556891		2177	4284	6461	SO:0001583	missense	256329							g.chr11:556891C>T																												ENST00000329451.3:c.920G>A	11.37:g.556891C>T	ENSP00000331167:p.Arg307His					uc001lpy.2_5'Flank|uc001lpz.2_5'Flank	p.R307H	NM_173573	NP_775844	Q8IXW0	CK035_HUMAN		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	8	983	-		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	307						Missense_Mutation	SNP	ENST00000329451.3	37	c.920G>A	CCDS7701.1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.728983	0.30684	.	.	ENSG00000185522	ENST00000329451	T	0.44083	0.93	3.22	-6.45	0.01914	.	2.652340	0.01424	N	0.014474	T	0.19886	0.0478	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.11372	-1.0590	10	0.14252	T	0.57	-5.4475	3.2504	0.06812	0.1691:0.5378:0.1296:0.1635	.	307	Q8IXW0	CK035_HUMAN	H	307	ENSP00000331167:R307H	ENSP00000331167:R307H	R	-	2	0	C11orf35	546891	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.816000	0.00752	-1.501000	0.01817	0.313000	0.20887	CGC		0.692	C11orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254973.2		
OR4A15	81328	broad.mit.edu	37	11	55135749	55135749	+	Silent	SNP	T	T	C			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr11:55135749T>C	ENST00000314706.3	+	1	390	c.390T>C	c.(388-390)ttT>ttC	p.F130F		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	130						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CTCAACTTTTTATGGATCATT	0.403																																						uc010rif.1																			0				ovary(1)|skin(1)	2						c.(388-390)TTT>TTC		olfactory receptor, family 4, subfamily A,							160.0	158.0	158.0					11																	55135749		2201	4294	6495	SO:0001819	synonymous_variant	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55135749T>C	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.390T>C	11.37:g.55135749T>C							p.F130F	NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN			1	390	+			130			Helical; Name=3; (Potential).		Q6IFL4|Q96R65	Silent	SNP	ENST00000314706.3	37	c.390T>C	CCDS31500.1																																																																																				0.403	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275	
OR5D16	390144	broad.mit.edu	37	11	55606949	55606950	+	Frame_Shift_Ins	INS	-	-	CACCT			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr11:55606949_55606950insCACCT	ENST00000378396.1	+	1	722_723	c.722_723insCACCT	c.(721-726)tccaccfs	p.-242fs		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				AAAGTCTTCTCCACCTGTGCCT	0.49																																						uc010rio.1																			0				ovary(4)|skin(1)	5						c.(721-723)TCCfs		olfactory receptor, family 5, subfamily D,																																				SO:0001589	frameshift_variant	390144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55606949_55606950insCACCT	AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"""GPCR / Class A : Olfactory receptors"""	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.723_727dupCACCT	11.37:g.55606950_55606954dupCACCT	ENSP00000367649:p.Thr242fs						p.S241fs	NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN			1	722_723	+		all_epithelial(135;0.208)	241			Helical; Name=6; (Potential).		Q6IF65|Q96RB4	Frame_Shift_Ins	INS	ENST00000378396.1	37	c.722_723insCACCT	CCDS31512.1																																																																																				0.490	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496	
OR7E5P	219445	broad.mit.edu	37	11	55747391	55747391	+	IGR	SNP	G	G	A	rs537578075	byFrequency	TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr11:55747391G>A								OR10AG1 (11401 upstream) : OR5F1 (13765 downstream)																							TGGGGGTGTCGAGGTGGGAGT	0.572													G|||	2	0.000399361	0.0015	0.0	5008	,	,		19376	0.0		0.0	False		,,,				2504	0.0					uc010riu.1																			0					0						c.(64-66)CTC>CTT		SubName: Full=HCG2036849; SubName: Full=Seven transmembrane helix receptor;																																				SO:0001628	intergenic_variant	219445							g.chr11:55747391G>A																													11.37:g.55747391G>A							p.L22L	NR_027688						4	621	-									Silent	SNP		37	c.66C>T																																																																																				0	0.572								
OR8H2	390151	broad.mit.edu	37	11	55873210	55873210	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr11:55873210C>T	ENST00000313503.1	+	1	692	c.692C>T	c.(691-693)aCt>aTt	p.T231I		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	231						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					ATTAATTCCACTTCAGGAAAG	0.373										HNSCC(53;0.14)																												uc010riy.1																			0				ovary(1)|skin(1)	2						c.(691-693)ACT>ATT		olfactory receptor, family 8, subfamily H,							119.0	115.0	116.0					11																	55873210		2201	4296	6497	SO:0001583	missense	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55873210C>T	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.692C>T	11.37:g.55873210C>T	ENSP00000323982:p.Thr231Ile	HNSCC(53;0.14)					p.T231I	NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN			1	692	+	Esophageal squamous(21;0.00693)		231			Cytoplasmic (Potential).		Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	c.692C>T	CCDS31518.1	.	.	.	.	.	.	.	.	.	.	c	6.405	0.442937	0.12164	.	.	ENSG00000181767	ENST00000313503	T	0.00145	8.67	3.58	2.66	0.31614	GPCR, rhodopsin-like superfamily (1);	0.495531	0.19017	N	0.124906	T	0.00210	0.0006	L	0.53617	1.68	0.09310	N	1	B	0.24675	0.109	B	0.37451	0.25	T	0.15549	-1.0433	10	0.62326	D	0.03	.	11.3409	0.49533	0.0:0.9076:0.0:0.0924	.	231	Q8N162	OR8H2_HUMAN	I	231	ENSP00000323982:T231I	ENSP00000323982:T231I	T	+	2	0	OR8H2	55629786	0.000000	0.05858	0.618000	0.29105	0.207000	0.24258	-0.835000	0.04386	0.807000	0.34208	0.440000	0.28878	ACT		0.373	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200	
ZP1	22917	broad.mit.edu	37	11	60637220	60637220	+	Missense_Mutation	SNP	C	C	G			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr11:60637220C>G	ENST00000278853.5	+	3	529	c.529C>G	c.(529-531)Cat>Gat	p.H177D		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	177					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						AGGCTCTGGCCATGCCTTTCC	0.627																																						uc001nqd.2																			0					0						c.(529-531)CAT>GAT		zona pellucida glycoprotein 1 precursor							71.0	77.0	75.0					11																	60637220		2203	4299	6502	SO:0001583	missense	22917				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:60637220C>G	BC067899	CCDS31572.1	11q12.2	2013-01-17			ENSG00000149506	ENSG00000149506		"""Zona pellucida glycoproteins"""	13187	protein-coding gene	gene with protein product		195000				10542331	Standard	NM_207341		Approved		uc001nqd.3	P60852	OTTHUMG00000167797	ENST00000278853.5:c.529C>G	11.37:g.60637220C>G	ENSP00000278853:p.His177Asp					ZP1_uc001nqe.2_5'Flank	p.H177D	NM_207341	NP_997224	P60852	ZP1_HUMAN			3	549	+			177			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000278853.5	37	c.529C>G	CCDS31572.1	.	.	.	.	.	.	.	.	.	.	C	8.090	0.774266	0.16051	.	.	ENSG00000149506	ENST00000278853	T	0.22743	1.94	2.2	2.2	0.27929	.	0.338820	0.17321	U	0.178483	T	0.11879	0.0289	L	0.44542	1.39	0.09310	N	1	P	0.37233	0.588	B	0.21708	0.036	T	0.17837	-1.0356	10	0.17832	T	0.49	-1.7778	7.8514	0.29457	0.0:1.0:0.0:0.0	.	177	P60852	ZP1_HUMAN	D	177	ENSP00000278853:H177D	ENSP00000278853:H177D	H	+	1	0	ZP1	60393796	0.021000	0.18746	0.036000	0.18154	0.053000	0.15095	0.608000	0.24223	1.194000	0.43101	0.460000	0.39030	CAT		0.627	ZP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396329.1	NM_207341	
FTH1	2495	broad.mit.edu	37	11	61732280	61732280	+	Silent	SNP	G	G	C			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr11:61732280G>C	ENST00000273550.7	-	4	705	c.471C>G	c.(469-471)cgC>cgG	p.R157R	FTH1_ENST00000529191.1_Intron|FTH1_ENST00000529631.1_Intron|FTH1_ENST00000526640.1_Silent_p.R127R|FTH1_ENST00000532601.1_Silent_p.R87R|BEST1_ENST00000449131.2_3'UTR	NM_002032.2	NP_002023.2	P02794	FRIH_HUMAN	ferritin, heavy polypeptide 1	157	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|intracellular sequestering of iron ion (GO:0006880)|iron ion transport (GO:0006826)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|post-Golgi vesicle-mediated transport (GO:0006892)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular ferritin complex (GO:0008043)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)|iron ion binding (GO:0005506)			NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8					Iron Dextran(DB00893)	CTCCCATCTTGCGCAAGTTGG	0.493																																						uc001nsu.2																			0				ovary(1)	1						c.(469-471)CGC>CGG		ferritin, heavy polypeptide 1	Iron Dextran(DB00893)						57.0	54.0	55.0					11																	61732280		1884	4095	5979	SO:0001819	synonymous_variant	2495				cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|ferroxidase activity|protein binding	g.chr11:61732280G>C		CCDS41655.1	11q13	2012-10-02			ENSG00000167996	ENSG00000167996			3976	protein-coding gene	gene with protein product	"""apoferritin"", ""placenta immunoregulatory factor"", ""proliferation-inducing protein 15"""	134770		FTHL6		3020541	Standard	NM_002032		Approved	FTH, PLIF, PIG15, FHC	uc001nsu.3	P02794		ENST00000273550.7:c.471C>G	11.37:g.61732280G>C							p.R157R	NM_002032	NP_002023	P02794	FRIH_HUMAN			4	706	-			157			Ferritin-like diiron.		B3KNR5|Q3KRA8|Q3SWW1	Silent	SNP	ENST00000273550.7	37	c.471C>G	CCDS41655.1																																																																																				0.493	FTH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388444.1	NM_002032	
PGR	5241	broad.mit.edu	37	11	100933263	100933263	+	Missense_Mutation	SNP	G	G	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr11:100933263G>T	ENST00000325455.5	-	4	3580	c.2127C>A	c.(2125-2127)gaC>gaA	p.D709E	PGR_ENST00000534013.1_Missense_Mutation_p.D115E|PGR_ENST00000263463.5_Intron	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	709	Steroid-binding.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	AACTGGAGGTGTCAGGTTTTG	0.408																																					Pancreas(124;2271 2354 21954 22882)	uc001pgh.2																			0				lung(1)|liver(1)|central_nervous_system(1)|pancreas(1)	4						c.(2125-2127)GAC>GAA		progesterone receptor	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)						213.0	198.0	203.0					11																	100933263		2203	4300	6503	SO:0001583	missense	5241				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr11:100933263G>T	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"""Nuclear hormone receptors"""	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.2127C>A	11.37:g.100933263G>T	ENSP00000325120:p.Asp709Glu					PGR_uc001pgg.2_Missense_Mutation_p.D90E|PGR_uc001pgi.2_Intron|PGR_uc009yww.1_Intron|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA	p.D709E	NM_000926	NP_000917	P06401	PRGR_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	4	2870	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	709			Steroid-binding.		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	ENST00000325455.5	37	c.2127C>A	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.479294	0.26511	.	.	ENSG00000082175	ENST00000325455;ENST00000534013	D;D	0.96459	-4.02;-4.02	5.86	-9.27	0.00659	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	0.098474	0.64402	D	0.000002	D	0.88142	0.6357	L	0.35723	1.085	0.80722	D	1	B;B	0.15930	0.015;0.002	B;B	0.11329	0.006;0.003	T	0.65837	-0.6071	10	0.21014	T	0.42	.	4.9446	0.13984	0.5831:0.0739:0.223:0.12	.	709;90	P06401;A7LQ08	PRGR_HUMAN;.	E	709;115	ENSP00000325120:D709E;ENSP00000436561:D115E	ENSP00000325120:D709E	D	-	3	2	PGR	100438473	0.011000	0.17503	0.750000	0.31169	0.806000	0.45545	-0.804000	0.04535	-1.374000	0.02131	-0.793000	0.03317	GAC		0.408	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1		
CDCA3	83461	broad.mit.edu	37	12	6959664	6959664	+	Missense_Mutation	SNP	T	T	C			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr12:6959664T>C	ENST00000538862.2	-	3	1118	c.217A>G	c.(217-219)Att>Gtt	p.I73V	CDCA3_ENST00000540683.1_Missense_Mutation_p.I73V|USP5_ENST00000389231.5_5'Flank|CDCA3_ENST00000229265.6_Missense_Mutation_p.I73V|CDCA3_ENST00000422785.3_Missense_Mutation_p.I73V|CDCA3_ENST00000604599.1_5'Flank|USP5_ENST00000229268.8_5'Flank|CDCA3_ENST00000535406.1_Missense_Mutation_p.I73V			Q99618	CDCA3_HUMAN	cell division cycle associated 3	73					mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|large_intestine(4)|lung(1)|stomach(1)	8						GTCCGTGCAATACCAAGAGTA	0.547																																						uc001qrg.2																			0					0						c.(217-219)ATT>GTT		cell division cycle associated 3							160.0	147.0	151.0					12																	6959664		2203	4300	6503	SO:0001583	missense	83461				cell division|mitosis	cytosol		g.chr12:6959664T>C	BG354576	CCDS8565.1, CCDS73428.1	12p13.31	2010-07-20				ENSG00000111665			14624	protein-coding gene	gene with protein product	"""trigger of mitotic entry 1"""	607749				9074930, 12188893	Standard	XR_242988		Approved	TOME-1, GRCC8	uc001qrg.2	Q99618		ENST00000538862.2:c.217A>G	12.37:g.6959664T>C	ENSP00000442068:p.Ile73Val					CDCA3_uc001qre.2_Missense_Mutation_p.I73V|uc001qrf.1_5'Flank|USP5_uc001qri.3_5'Flank|USP5_uc001qrh.3_5'Flank	p.I73V	NM_031299	NP_112589	Q99618	CDCA3_HUMAN			3	345	-			73					A8K5V6|D3DUS6	Missense_Mutation	SNP	ENST00000538862.2	37	c.217A>G	CCDS8565.1	.	.	.	.	.	.	.	.	.	.	T	15.36	2.810233	0.50421	.	.	ENSG00000237240;ENSG00000111665;ENSG00000111665;ENSG00000111665;ENSG00000111665	ENST00000422785;ENST00000229265;ENST00000538862;ENST00000535406;ENST00000540683	.	.	.	5.67	4.51	0.55191	.	0.064001	0.64402	D	0.000009	T	0.46946	0.1419	M	0.62016	1.91	0.39828	D	0.972922	P;P	0.44429	0.577;0.835	B;B	0.38264	0.269;0.269	T	0.48885	-0.8995	9	0.42905	T	0.14	-14.3654	9.9331	0.41534	0.1518:0.0:0.0:0.8482	.	73;73	Q99618;F8WDL1	CDCA3_HUMAN;.	V	73	.	ENSP00000229265:I73V	I	-	1	0	U47924.25;CDCA3	6829925	1.000000	0.71417	0.957000	0.39632	0.072000	0.16883	5.754000	0.68743	0.961000	0.38030	-0.333000	0.08304	ATT		0.547	CDCA3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401940.2	NM_031299	
ABCC9	10060	broad.mit.edu	37	12	21960380	21960380	+	Missense_Mutation	SNP	C	C	G			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr12:21960380C>G	ENST00000261201.4	-	36	4348	c.4349G>C	c.(4348-4350)aGc>aCc	p.S1450T	ABCC9_ENST00000345162.2_Missense_Mutation_p.S1414T|ABCC9_ENST00000261200.4_Missense_Mutation_p.S1450T	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1450	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	CTGTCCAACGCTAAAATTCTC	0.433																																						uc001rfi.1																			0				ovary(4)|skin(2)	6						c.(4348-4350)AGC>ACC		ATP-binding cassette, sub-family C, member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						131.0	117.0	122.0					12																	21960380		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:21960380C>G	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.4349G>C	12.37:g.21960380C>G	ENSP00000261201:p.Ser1450Thr					ABCC9_uc001rfh.2_Missense_Mutation_p.S1450T|ABCC9_uc001rfj.1_Missense_Mutation_p.S1414T|ABCC9_uc001rfg.2_5'UTR	p.S1450T	NM_005691	NP_005682	O60706	ABCC9_HUMAN			36	4369	-			1450			Cytoplasmic (Potential).|ABC transporter 2.		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.4349G>C	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.631023	0.87660	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.98777	-5.13;-5.13;-5.13;-5.13	5.02	5.02	0.67125	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.99563	0.9843	H	0.98786	4.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.989;0.999	D	0.97667	1.0164	10	0.87932	D	0	-15.8593	18.5246	0.90967	0.0:1.0:0.0:0.0	.	1450;1450	O60706;O60706-2	ABCC9_HUMAN;.	T	1450;1077;1450;1414	ENSP00000261200:S1450T;ENSP00000440521:S1077T;ENSP00000261201:S1450T;ENSP00000261202:S1414T	ENSP00000261200:S1450T	S	-	2	0	ABCC9	21851647	1.000000	0.71417	0.840000	0.33206	0.936000	0.57629	7.534000	0.82004	2.585000	0.87301	0.561000	0.74099	AGC		0.433	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691	
ABCC9	10060	broad.mit.edu	37	12	21968784	21968784	+	Missense_Mutation	SNP	G	G	C			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr12:21968784G>C	ENST00000261201.4	-	32	3935	c.3936C>G	c.(3934-3936)atC>atG	p.I1312M	ABCC9_ENST00000345162.2_Missense_Mutation_p.I1276M|ABCC9_ENST00000261200.4_Missense_Mutation_p.I1312M	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1312	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	CATGTATCTTGATCTCCCCTT	0.403																																						uc001rfi.1																			0				ovary(4)|skin(2)	6						c.(3934-3936)ATC>ATG		ATP-binding cassette, sub-family C, member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						153.0	137.0	142.0					12																	21968784		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:21968784G>C	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.3936C>G	12.37:g.21968784G>C	ENSP00000261201:p.Ile1312Met					ABCC9_uc001rfh.2_Missense_Mutation_p.I1312M|ABCC9_uc001rfj.1_Missense_Mutation_p.I1276M	p.I1312M	NM_005691	NP_005682	O60706	ABCC9_HUMAN			32	3956	-			1312			Cytoplasmic (Potential).|ABC transporter 2.		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.3936C>G	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.110147	0.37242	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.92595	-3.07;-3.07;-3.07;-3.07	4.95	4.05	0.47172	ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.96269	0.8783	M	0.86573	2.825	0.45097	D	0.998114	D;D	0.89917	1.0;1.0	D;D	0.80764	0.993;0.994	D	0.96290	0.9213	10	0.87932	D	0	-17.5927	14.8258	0.70110	0.0754:0.0:0.9246:0.0	.	1312;1312	O60706;O60706-2	ABCC9_HUMAN;.	M	1312;939;1312;1276	ENSP00000261200:I1312M;ENSP00000440521:I939M;ENSP00000261201:I1312M;ENSP00000261202:I1276M	ENSP00000261200:I1312M	I	-	3	3	ABCC9	21860051	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	1.531000	0.36018	0.687000	0.31509	-1.128000	0.01989	ATC		0.403	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691	
ABCC9	10060	broad.mit.edu	37	12	21970190	21970190	+	Nonsense_Mutation	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr12:21970190G>A	ENST00000261201.4	-	31	3822	c.3823C>T	c.(3823-3825)Cag>Tag	p.Q1275*	ABCC9_ENST00000345162.2_Nonsense_Mutation_p.Q1239*|ABCC9_ENST00000261200.4_Nonsense_Mutation_p.Q1275*	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1275					defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	GCACCCATCTGGACCTCCAGG	0.373																																						uc001rfi.1																			0				ovary(4)|skin(2)	6						c.(3823-3825)CAG>TAG		ATP-binding cassette, sub-family C, member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						133.0	136.0	135.0					12																	21970190		2203	4300	6503	SO:0001587	stop_gained	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:21970190G>A	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.3823C>T	12.37:g.21970190G>A	ENSP00000261201:p.Gln1275*					ABCC9_uc001rfh.2_Nonsense_Mutation_p.Q1275*|ABCC9_uc001rfj.1_Nonsense_Mutation_p.Q1239*	p.Q1275*	NM_005691	NP_005682	O60706	ABCC9_HUMAN			31	3843	-			1275			Cytoplasmic (Potential).		O60707	Nonsense_Mutation	SNP	ENST00000261201.4	37	c.3823C>T	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	G	42	9.274526	0.99122	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	.	.	.	4.52	4.52	0.55395	.	0.125558	0.56097	D	0.000027	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-13.1873	17.7929	0.88561	0.0:0.0:1.0:0.0	.	.	.	.	X	1275;902;1275;1239	.	ENSP00000261200:Q1275X	Q	-	1	0	ABCC9	21861457	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.435000	0.97529	2.525000	0.85131	0.650000	0.86243	CAG		0.373	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691	
ABCC9	10060	broad.mit.edu	37	12	21981913	21981913	+	Missense_Mutation	SNP	G	G	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr12:21981913G>T	ENST00000261201.4	-	29	3647	c.3648C>A	c.(3646-3648)aaC>aaA	p.N1216K	ABCC9_ENST00000345162.2_Missense_Mutation_p.N1180K|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261200.4_Missense_Mutation_p.N1216K	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1216	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	CCAGCCATCTGTTGGCAGCTG	0.423																																						uc001rfi.1																			0				ovary(4)|skin(2)	6						c.(3646-3648)AAC>AAA		ATP-binding cassette, sub-family C, member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						212.0	190.0	198.0					12																	21981913		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:21981913G>T	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.3648C>A	12.37:g.21981913G>T	ENSP00000261201:p.Asn1216Lys					ABCC9_uc001rfh.2_Missense_Mutation_p.N1216K|ABCC9_uc001rfj.1_Missense_Mutation_p.N1180K	p.N1216K	NM_005691	NP_005682	O60706	ABCC9_HUMAN			29	3668	-			1216			Extracellular (Potential).|ABC transmembrane type-1 2.		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.3648C>A	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.939212	0.73557	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.90324	-2.65;-1.57;-2.65;-2.65	4.2	4.2	0.49525	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.95490	0.8535	M	0.92833	3.35	0.54753	D	0.999985	D;D	0.56035	0.974;0.96	D;P	0.65233	0.933;0.596	D	0.95691	0.8740	10	0.72032	D	0.01	-15.6097	10.7285	0.46083	0.0885:0.0:0.9115:0.0	.	1216;1216	O60706;O60706-2	ABCC9_HUMAN;.	K	1216;843;1216;1180	ENSP00000261200:N1216K;ENSP00000440521:N843K;ENSP00000261201:N1216K;ENSP00000261202:N1180K	ENSP00000261200:N1216K	N	-	3	2	ABCC9	21873180	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.165000	0.71891	2.331000	0.79229	0.467000	0.42956	AAC		0.423	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691	
OR6C6	283365	broad.mit.edu	37	12	55688288	55688288	+	Missense_Mutation	SNP	C	C	G			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr12:55688288C>G	ENST00000358433.2	-	1	728	c.729G>C	c.(727-729)atG>atC	p.M243I		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	243						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AGACAACAATCATGTGGGAAG	0.368																																						uc010sph.1																			0				large_intestine(1)|skin(1)	2						c.(727-729)ATG>ATC		olfactory receptor, family 6, subfamily C,							113.0	121.0	118.0					12																	55688288		2203	4300	6503	SO:0001583	missense	283365				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55688288C>G		CCDS31817.1	12q13.13	2012-08-09			ENSG00000188324	ENSG00000188324		"""GPCR / Class A : Olfactory receptors"""	31293	protein-coding gene	gene with protein product							Standard	NM_001005493		Approved		uc010sph.2	A6NF89	OTTHUMG00000168101	ENST00000358433.2:c.729G>C	12.37:g.55688288C>G	ENSP00000351211:p.Met243Ile						p.M243I	NM_001005493	NP_001005493	A6NF89	OR6C6_HUMAN			1	729	-			243			Helical; Name=6; (Potential).			Missense_Mutation	SNP	ENST00000358433.2	37	c.729G>C	CCDS31817.1	.	.	.	.	.	.	.	.	.	.	-	8.584	0.882935	0.17467	.	.	ENSG00000188324	ENST00000358433	T	0.32988	1.43	4.33	3.44	0.39384	GPCR, rhodopsin-like superfamily (1);	0.094481	0.45361	D	0.000368	T	0.16642	0.0400	N	0.13003	0.285	0.25041	N	0.991206	B	0.12013	0.005	B	0.23150	0.044	T	0.12477	-1.0546	10	0.49607	T	0.09	.	5.6912	0.17831	0.0:0.6575:0.1631:0.1794	.	243	A6NF89	OR6C6_HUMAN	I	243	ENSP00000351211:M243I	ENSP00000351211:M243I	M	-	3	0	OR6C6	53974555	0.000000	0.05858	0.955000	0.39395	0.651000	0.38670	-0.318000	0.08050	1.178000	0.42870	0.644000	0.83932	ATG		0.368	OR6C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398151.1		
NUP107	57122	broad.mit.edu	37	12	69115670	69115670	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr12:69115670G>A	ENST00000229179.4	+	16	1693	c.1361G>A	c.(1360-1362)cGg>cAg	p.R454Q	NUP107_ENST00000378905.2_Missense_Mutation_p.R303Q|NUP107_ENST00000539906.1_Missense_Mutation_p.R425Q	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	454					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			GCCTACTTCCGGGTGATGGTG	0.448																																						uc001suf.2																			0				skin(1)	1						c.(1360-1362)CGG>CAG		nucleoporin 107kDa							102.0	103.0	103.0					12																	69115670		2203	4300	6503	SO:0001583	missense	57122				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr12:69115670G>A	AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.1361G>A	12.37:g.69115670G>A	ENSP00000229179:p.Arg454Gln					NUP107_uc001sug.2_Missense_Mutation_p.R301Q|NUP107_uc010stj.1_Missense_Mutation_p.R425Q	p.R454Q	NM_020401	NP_065134	P57740	NU107_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)		16	1476	+	Breast(13;6.25e-06)		454					B4DZ67|Q6PJE1	Missense_Mutation	SNP	ENST00000229179.4	37	c.1361G>A	CCDS8985.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.972301	0.92919	.	.	ENSG00000111581	ENST00000229179;ENST00000378905;ENST00000539906	.	.	.	5.02	5.02	0.67125	.	0.093105	0.64402	D	0.000001	T	0.76955	0.4060	M	0.77103	2.36	0.51767	D	0.999937	D;D;D	0.76494	0.996;0.999;0.998	P;D;P	0.70935	0.801;0.971;0.883	T	0.77945	-0.2397	8	.	.	.	-17.0	12.1316	0.53946	0.0791:0.0:0.9209:0.0	.	425;303;454	B4DZ67;Q6PJE1;P57740	.;.;NU107_HUMAN	Q	454;303;425	.	.	R	+	2	0	NUP107	67401937	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.208000	0.72165	2.519000	0.84933	0.455000	0.32223	CGG		0.448	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403195.1	NM_020401	
FLT3	2322	broad.mit.edu	37	13	28636174	28636174	+	Silent	SNP	C	C	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr13:28636174C>T	ENST00000241453.7	-	3	279	c.198G>A	c.(196-198)gcG>gcA	p.A66A	FLT3_ENST00000537084.1_Silent_p.A66A|FLT3_ENST00000380982.4_Silent_p.A66A	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	66					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.A66A(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	GGGGTCTCAACGCACACCCGA	0.537			"""Mis, O"""		"""AML, ALL"""																																	uc001urw.2				Dom	yes		13	13q12	2322	Mis|O	fms-related tyrosine kinase 3			L			AML|ALL		1	Substitution - coding silent(1)	p.599_560>LTGSSDNEYFYVDFREYEY(1)	large_intestine(1)	haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549						c.(196-198)GCG>GCA		fms-related tyrosine kinase 3 precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						93.0	92.0	93.0					13																	28636174		2203	4300	6503	SO:0001819	synonymous_variant	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28636174C>T	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.198G>A	13.37:g.28636174C>T						FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Silent_p.A66A	p.A66A	NM_004119	NP_004110	P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	3	280	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	66			Extracellular (Potential).		A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Silent	SNP	ENST00000241453.7	37	c.198G>A	CCDS31953.1																																																																																				0.537	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2		
RNASE11	122651	broad.mit.edu	37	14	21052270	21052270	+	Missense_Mutation	SNP	G	G	A	rs144501463	byFrequency	TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr14:21052270G>A	ENST00000610205.1	-	3	547	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	RNASE11_ENST00000432835.2_Missense_Mutation_p.R122C|RNASE11_ENST00000555841.1_Missense_Mutation_p.R122C|RNASE11_ENST00000398009.2_Missense_Mutation_p.R122C|RNASE11_ENST00000553849.1_Missense_Mutation_p.R122C|RNASE11_ENST00000398008.2_Missense_Mutation_p.R122C	NM_145250.3	NP_660293.1	Q8TAA1	RNS11_HUMAN	ribonuclease, RNase A family, 11 (non-active)	122						extracellular region (GO:0005576)	endonuclease activity (GO:0004519)|nucleic acid binding (GO:0003676)	p.R122S(1)		endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)		GTGGAGCTGCGGATGAAGTTA	0.488																																						uc010ahv.2																			1	Substitution - Missense(1)		large_intestine(1)	ovary(3)	3						c.(364-366)CGC>TGC		ribonuclease, RNase A family, 11 (non-active)		G	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	96.0	82.0	87.0		364	1.1	0.0	14	dbSNP_134	87	5,8595	4.3+/-15.6	0,5,4295	yes	missense	RNASE11	NM_145250.3	180	0,7,6496	AA,AG,GG		0.0581,0.0454,0.0538	benign	122/200	21052270	7,12999	2203	4300	6503	SO:0001583	missense	122651					extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21052270G>A	BC025410	CCDS9553.1	14q11.1	2013-08-05	2004-11-18	2004-11-18	ENSG00000173464	ENSG00000173464		"""Ribonucleases, RNase A"""	19269	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 6"""	C14orf6			Standard	NM_145250		Approved		uc001vxs.3	Q8TAA1	OTTHUMG00000170990	ENST00000610205.1:c.364C>T	14.37:g.21052270G>A	ENSP00000476537:p.Arg122Cys					RNASE11_uc010ahx.2_Missense_Mutation_p.R122C|RNASE11_uc010ahw.2_Missense_Mutation_p.R122C|RNASE11_uc001vxs.2_Missense_Mutation_p.R122C	p.R122C	NM_145250	NP_660293	Q8TAA1	RNS11_HUMAN	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)	2	549	-	all_cancers(95;0.00238)	all_lung(585;0.235)	122						Missense_Mutation	SNP	ENST00000610205.1	37	c.364C>T	CCDS9553.1	.	.	.	.	.	.	.	.	.	.	G	8.958	0.969930	0.18659	4.54E-4	5.81E-4	ENSG00000173464	ENST00000335950;ENST00000553849;ENST00000555841;ENST00000398009;ENST00000398008;ENST00000432835;ENST00000443456;ENST00000557503;ENST00000557105;ENST00000413502;ENST00000554842	T;T;T;T;T;T;T;T;T;D;T	0.94723	0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;-3.5;0.96	3.94	1.06	0.20224	Ribonuclease A, domain (3);	0.402361	0.24211	N	0.040526	D	0.84365	0.5456	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.74858	-0.3521	10	0.48119	T	0.1	-23.0798	6.345	0.21345	0.3254:0.0:0.6746:0.0	.	122	Q8TAA1	RNS11_HUMAN	C	122	ENSP00000338288:R122C;ENSP00000451318:R122C;ENSP00000451563:R122C;ENSP00000381093:R122C;ENSP00000381092:R122C;ENSP00000395210:R122C;ENSP00000401398:R122C;ENSP00000451839:R122C;ENSP00000452412:R122C;ENSP00000415954:R122C;ENSP00000451466:R122C	ENSP00000338288:R122C	R	-	1	0	RNASE11	20122110	0.006000	0.16342	0.000000	0.03702	0.047000	0.14425	1.343000	0.33930	0.231000	0.21079	0.511000	0.50034	CGC		0.488	RNASE11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073662.3	NM_145250	
GALNT16	57452	broad.mit.edu	37	14	69795188	69795188	+	Missense_Mutation	SNP	G	G	A	rs61748871	byFrequency	TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr14:69795188G>A	ENST00000337827.4	+	6	917	c.590G>A	c.(589-591)cGt>cAt	p.R197H	GALNT16_ENST00000553669.1_Missense_Mutation_p.R197H|GALNT16_ENST00000448469.3_Missense_Mutation_p.R197H	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2	Q8N428	GLT16_HUMAN	polypeptide N-acetylgalactosaminyltransferase 16	197	Catalytic subdomain A.				protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										TCCCGAGTGCGTGGGGCGGAC	0.632													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18402	0.0		0.0	False		,,,				2504	0.0					uc010aqu.1																			0				ovary(1)|central_nervous_system(1)	2						c.(589-591)CGT>CAT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide		G	HIS/ARG,HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	99.0	91.0	94.0		590,590	5.4	0.2	14	dbSNP_129	94	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	GALNTL1	NM_001168368.1,NM_020692.2	29,29	0,4,6499	AA,AG,GG		0.0116,0.0681,0.0308	probably-damaging,probably-damaging	197/559,197/559	69795188	4,13002	2203	4300	6503	SO:0001583	missense	57452					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr14:69795188G>A	AB032956	CCDS32107.1	14q24.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000100626	ENSG00000100626	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23233	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 16"""	615132	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16"""	GALNTL1		10574461, 22186971	Standard	NM_020692		Approved	KIAA1130, GalNAc-T16	uc010aqu.2	Q8N428	OTTHUMG00000171231	ENST00000337827.4:c.590G>A	14.37:g.69795188G>A	ENSP00000336729:p.Arg197His					GALNTL1_uc001xla.1_Missense_Mutation_p.R197H|GALNTL1_uc001xlb.1_Missense_Mutation_p.R197H	p.R197H	NM_020692	NP_065743	Q8N428	GLTL1_HUMAN		all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656)	6	683	+			197			Catalytic subdomain A.|Lumenal (Potential).		Q4KMG3|Q58A55|Q9ULT9	Missense_Mutation	SNP	ENST00000337827.4	37	c.590G>A	CCDS32107.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.621470	0.66787	6.81E-4	1.16E-4	ENSG00000100626	ENST00000337827;ENST00000448469;ENST00000553669	T;T;T	0.61510	0.1;0.1;0.1	5.38	5.38	0.77491	Glycosyl transferase, family 2 (1);	0.242426	0.42964	D	0.000634	T	0.77025	0.4070	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	P;D	0.69307	0.903;0.963	T	0.79771	-0.1663	10	0.72032	D	0.01	.	18.7307	0.91734	0.0:0.0:1.0:0.0	rs61748871	197;197	Q8N428;Q58A55	GLTL1_HUMAN;.	H	197	ENSP00000336729:R197H;ENSP00000402970:R197H;ENSP00000451200:R197H	ENSP00000336729:R197H	R	+	2	0	GALNTL1	68864941	1.000000	0.71417	0.209000	0.23619	0.186000	0.23388	7.275000	0.78548	2.525000	0.85131	0.557000	0.71058	CGT		0.632	GALNT16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412434.1	NM_001168368	
FBLN5	10516	broad.mit.edu	37	14	92343924	92343924	+	Silent	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr14:92343924G>A	ENST00000342058.4	-	10	1685	c.1092C>T	c.(1090-1092)gaC>gaT	p.D364D	FBLN5_ENST00000556961.1_5'Flank|FBLN5_ENST00000556154.1_Silent_p.D369D|FBLN5_ENST00000267620.10_Silent_p.D405D	NM_006329.3	NP_006320.2	Q9UBX5	FBLN5_HUMAN	fibulin 5	364			D -> Y (in dbSNP:rs1802492).		cell-matrix adhesion (GO:0007160)|elastic fiber assembly (GO:0048251)|extracellular matrix organization (GO:0030198)|protein localization to cell surface (GO:0034394)|regulation of cell growth (GO:0001558)|regulation of removal of superoxide radicals (GO:2000121)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				TTTGGAAGATGTCAGCGGGAA	0.537																																						uc001xzx.3																			0				ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6						c.(1090-1092)GAC>GAT		fibulin 5 precursor							126.0	106.0	113.0					14																	92343924		2203	4300	6503	SO:0001819	synonymous_variant	10516				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding	g.chr14:92343924G>A	AJ133490	CCDS9898.1	14q31	2014-09-17				ENSG00000140092		"""Fibulins"""	3602	protein-coding gene	gene with protein product		604580				10640802	Standard	NM_006329		Approved	EVEC, UP50, DANCE, ARMD3	uc001xzx.4	Q9UBX5		ENST00000342058.4:c.1092C>T	14.37:g.92343924G>A						FBLN5_uc010aud.2_Silent_p.D369D|FBLN5_uc010aue.2_Silent_p.D405D|FBLN5_uc001xzw.2_5'Flank	p.D364D	NM_006329	NP_006320	Q9UBX5	FBLN5_HUMAN			10	1565	-		all_cancers(154;0.0722)	364					O75966|Q6IAL4|Q6UWA3	Silent	SNP	ENST00000342058.4	37	c.1092C>T	CCDS9898.1	.	.	.	.	.	.	.	.	.	.	G	9.735	1.163227	0.21538	.	.	ENSG00000140092	ENST00000554121	.	.	.	6.17	5.28	0.74379	.	.	.	.	.	T	0.64918	0.2642	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61028	-0.7145	4	.	.	.	.	12.8703	0.57960	0.1507:0.0:0.8493:0.0	.	.	.	.	I	73	.	.	T	-	2	0	FBLN5	91413677	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	1.730000	0.38125	2.941000	0.99782	0.655000	0.94253	ACA		0.537	FBLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411787.1		
PAPOLA	10914	broad.mit.edu	37	14	96991694	96991694	+	Silent	SNP	A	A	G			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr14:96991694A>G	ENST00000216277.8	+	4	517	c.297A>G	c.(295-297)acA>acG	p.T99T	PAPOLA_ENST00000557320.1_Silent_p.T99T|PAPOLA_ENST00000557471.1_Silent_p.T99T|PAPOLA_ENST00000554130.1_Intron|PAPOLA_ENST00000392990.2_Silent_p.T99T	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	99					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|RNA polyadenylation (GO:0043631)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		AAATTTTTACATTTGGATCTT	0.323																																					NSCLC(19;254 734 11908 35501 39234)	uc001yfq.2																			0					0						c.(295-297)ACA>ACG		poly(A) polymerase alpha							56.0	61.0	59.0					14																	96991694		2203	4298	6501	SO:0001819	synonymous_variant	10914				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr14:96991694A>G	X76770	CCDS9946.1, CCDS58334.1, CCDS58335.1	14q32.1-q32.2	2008-02-08				ENSG00000090060	2.7.7.19		14981	protein-coding gene	gene with protein product		605553				8302877, 10429366	Standard	NM_032632		Approved	PAP	uc001yfq.3	P51003		ENST00000216277.8:c.297A>G	14.37:g.96991694A>G						PAPOLA_uc001yfo.2_Silent_p.T99T|PAPOLA_uc001yfp.2_Silent_p.T99T|PAPOLA_uc001yfr.2_Silent_p.T99T|PAPOLA_uc010twv.1_Silent_p.T99T|PAPOLA_uc010avp.2_5'UTR	p.T99T	NM_032632	NP_116021	P51003	PAPOA_HUMAN		COAD - Colon adenocarcinoma(157;0.213)	4	507	+		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)	99					Q86SX4|Q86TV0|Q8IYF5|Q9BVU2	Silent	SNP	ENST00000216277.8	37	c.297A>G	CCDS9946.1																																																																																				0.323	PAPOLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413411.2		
KIF26A	26153	broad.mit.edu	37	14	104642036	104642036	+	Missense_Mutation	SNP	G	G	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr14:104642036G>T	ENST00000423312.2	+	12	2911	c.2911G>T	c.(2911-2913)Ggg>Tgg	p.G971W	KIF26A_ENST00000315264.7_Missense_Mutation_p.G832W	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	971					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GCCTGGGGGAGGGGGCACTGA	0.701																																						uc001yos.3																			0				pancreas(1)	1						c.(2911-2913)GGG>TGG		kinesin family member 26A							7.0	10.0	9.0					14																	104642036		1814	3999	5813	SO:0001583	missense	26153				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity	g.chr14:104642036G>T	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"""Kinesins"""	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.2911G>T	14.37:g.104642036G>T	ENSP00000388241:p.Gly971Trp						p.G971W	NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Epithelial(46;0.152)	Epithelial(152;0.161)	12	2911	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	971					Q8TAZ7|Q96GK3|Q9UFL3	Missense_Mutation	SNP	ENST00000423312.2	37	c.2911G>T	CCDS45171.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.564396	0.45694	.	.	ENSG00000066735	ENST00000423312;ENST00000315264	T;T	0.78364	-1.17;-1.17	3.57	1.48	0.22813	.	.	.	.	.	T	0.59128	0.2171	L	0.36672	1.1	0.09310	N	1	P	0.38788	0.647	B	0.29524	0.103	T	0.55774	-0.8088	9	0.66056	D	0.02	.	1.9747	0.03413	0.2107:0.2252:0.4326:0.1315	.	971	Q9ULI4	KI26A_HUMAN	W	971;832	ENSP00000388241:G971W;ENSP00000325452:G832W	ENSP00000325452:G832W	G	+	1	0	KIF26A	103711789	0.001000	0.12720	0.016000	0.15963	0.031000	0.12232	0.535000	0.23114	0.609000	0.30018	0.313000	0.20887	GGG		0.701	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1		
TUBGCP5	114791	broad.mit.edu	37	15	22868917	22868917	+	Missense_Mutation	SNP	A	A	G			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr15:22868917A>G	ENST00000283645.4	+	20	2919	c.2789A>G	c.(2788-2790)cAc>cGc	p.H930R	TUBGCP5_ENST00000453949.2_Missense_Mutation_p.H930R	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	930					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		ATTAAAATTCACTATAGGTAT	0.453																																						uc001yur.3																			0				skin(1)	1						c.(2788-2790)CAC>CGC		tubulin, gamma complex associated protein 5							95.0	90.0	92.0					15																	22868917		2203	4300	6503	SO:0001583	missense	114791				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr15:22868917A>G	AB067486	CCDS73697.1, CCDS73698.1	15q11.1	2014-04-17			ENSG00000153575	ENSG00000275835			18600	protein-coding gene	gene with protein product	"""gamma-tubulin complex component GCP5"""	608147				11694571	Standard	NM_052903		Approved	GCP5, KIAA1899	uc001yur.4	Q96RT8	OTTHUMG00000188371	ENST00000283645.4:c.2789A>G	15.37:g.22868917A>G	ENSP00000283645:p.His930Arg					TUBGCP5_uc001yuq.2_Missense_Mutation_p.H930R	p.H930R	NM_052903	NP_443135	Q96RT8	GCP5_HUMAN		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)	20	2919	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	930					E9PB12|Q6IQ52|Q96PY8	Missense_Mutation	SNP	ENST00000283645.4	37	c.2789A>G	CCDS10008.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.409341	0.83340	.	.	ENSG00000153575	ENST00000283645;ENST00000453949	T;T	0.21543	2.0;2.0	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.47358	0.1441	M	0.74647	2.275	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.75484	0.986;0.98	T	0.50550	-0.8815	10	0.87932	D	0	-20.5515	15.3726	0.74577	1.0:0.0:0.0:0.0	.	930;930	Q96RT8;E9PB12	GCP5_HUMAN;.	R	930	ENSP00000283645:H930R;ENSP00000409217:H930R	ENSP00000283645:H930R	H	+	2	0	TUBGCP5	20420358	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	8.304000	0.89958	2.209000	0.71365	0.533000	0.62120	CAC		0.453	TUBGCP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250998.2	NM_052903	
NPAP1	23742	broad.mit.edu	37	15	24922713	24922713	+	Missense_Mutation	SNP	T	T	C			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr15:24922713T>C	ENST00000329468.2	+	1	2173	c.1699T>C	c.(1699-1701)Tca>Cca	p.S567P		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	567					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											CCACCTAACCTCACAGACTGC	0.488																																						uc001ywo.2																			0				ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(1699-1701)TCA>CCA		hypothetical protein LOC23742							140.0	129.0	133.0					15																	24922713		2203	4300	6503	SO:0001583	missense	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24922713T>C	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.1699T>C	15.37:g.24922713T>C	ENSP00000333735:p.Ser567Pro						p.S567P	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	2173	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	567						Missense_Mutation	SNP	ENST00000329468.2	37	c.1699T>C	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	12.15	1.851360	0.32699	.	.	ENSG00000185823	ENST00000329468	T	0.06449	3.3	1.73	0.574	0.17368	.	3.310570	0.01376	N	0.012744	T	0.05273	0.0140	L	0.38175	1.15	0.09310	N	1	B	0.30068	0.267	B	0.20955	0.032	T	0.35101	-0.9802	10	0.18710	T	0.47	.	3.3833	0.07262	0.0:0.2287:0.0:0.7713	.	567	Q9NZP6	CO002_HUMAN	P	567	ENSP00000333735:S567P	ENSP00000333735:S567P	S	+	1	0	C15orf2	22473806	0.001000	0.12720	0.002000	0.10522	0.146000	0.21551	0.223000	0.17719	0.149000	0.19098	0.172000	0.16884	TCA		0.488	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958	
RPAP1	26015	broad.mit.edu	37	15	41810311	41810311	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr15:41810311G>A	ENST00000304330.4	-	23	3981	c.3865C>T	c.(3865-3867)Cgg>Tgg	p.R1289W	RPAP1_ENST00000561603.1_Silent_p.S1036S	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	1289						nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		ACCAGGGTCCGGAAGTAGAGC	0.582																																						uc001zod.2																			0				large_intestine(1)	1						c.(3865-3867)CGG>TGG		RNA polymerase II associated protein 1							93.0	76.0	82.0					15																	41810311		2203	4300	6503	SO:0001583	missense	26015					nucleus	DNA binding|DNA-directed RNA polymerase activity	g.chr15:41810311G>A	BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.3865C>T	15.37:g.41810311G>A	ENSP00000306123:p.Arg1289Trp					RPAP1_uc001zoc.2_Missense_Mutation_p.R308W	p.R1289W	NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)	23	3989	-		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	1289					Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Missense_Mutation	SNP	ENST00000304330.4	37	c.3865C>T	CCDS10079.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.903348	0.92035	.	.	ENSG00000103932	ENST00000304330	T	0.14266	2.52	5.23	4.32	0.51571	.	0.131128	0.53938	D	0.000052	T	0.28433	0.0703	L	0.61218	1.895	0.53005	D	0.999964	D	0.69078	0.997	P	0.55260	0.772	T	0.06661	-1.0814	10	0.87932	D	0	-5.1388	15.4609	0.75356	0.0:0.0:0.8604:0.1396	.	1289	Q9BWH6	RPAP1_HUMAN	W	1289	ENSP00000306123:R1289W	ENSP00000306123:R1289W	R	-	1	2	RPAP1	39597603	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.923000	0.56469	1.428000	0.47296	-0.152000	0.13540	CGG		0.582	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2	NM_015540	
DUOX2	50506	broad.mit.edu	37	15	45387648	45387648	+	Missense_Mutation	SNP	A	A	C			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr15:45387648A>C	ENST00000603300.1	-	31	4428	c.4226T>G	c.(4225-4227)aTg>aGg	p.M1409R	DUOX2_ENST00000389039.6_Missense_Mutation_p.M1409R	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1409					adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CTTACACAGCATTTGGCTGCC	0.532																																						uc010bea.2																			0				ovary(2)|skin(2)|pancreas(1)	5						c.(4225-4227)ATG>AGG		dual oxidase 2 precursor							165.0	141.0	149.0					15																	45387648		2198	4298	6496	SO:0001583	missense	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	g.chr15:45387648A>C	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.4226T>G	15.37:g.45387648A>C	ENSP00000475084:p.Met1409Arg					DUOX2_uc001zun.2_Missense_Mutation_p.M1409R	p.M1409R	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	31	4429	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	1409			Cytoplasmic (Potential).		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	37	c.4226T>G	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	A	17.20	3.328735	0.60743	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.8	5.8	0.92144	Ferric reductase, NAD binding (1);	0.283387	0.46758	D	0.000274	T	0.53270	0.1786	N	0.21142	0.635	0.46678	D	0.999155	B	0.20459	0.045	B	0.29440	0.102	T	0.53019	-0.8497	9	0.66056	D	0.02	-35.5728	15.3694	0.74551	1.0:0.0:0.0:0.0	.	1409	Q9NRD8	DUOX2_HUMAN	R	1409	.	ENSP00000373691:M1409R	M	-	2	0	DUOX2	43174940	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	9.339000	0.96797	2.231000	0.72958	0.454000	0.30748	ATG		0.532	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080	
ZNF263	10127	broad.mit.edu	37	16	3339694	3339694	+	Missense_Mutation	SNP	C	C	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr16:3339694C>A	ENST00000219069.5	+	6	2064	c.1188C>A	c.(1186-1188)caC>caA	p.H396Q	ZNF263_ENST00000538765.1_Missense_Mutation_p.H44Q|ZNF263_ENST00000574253.1_3'UTR	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	396					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						TAATTAGGCACCAGAGAATAC	0.478																																						uc002cuq.2																			0				skin(3)|ovary(1)	4						c.(1186-1188)CAC>CAA		zinc finger protein 263							102.0	94.0	97.0					16																	3339694		2197	4300	6497	SO:0001583	missense	10127				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3339694C>A	AC004232	CCDS10499.1	16p13.3	2013-01-09			ENSG00000006194	ENSG00000006194		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13056	protein-coding gene	gene with protein product		604191				9256059	Standard	NM_005741		Approved	FPM315, ZKSCAN12, ZSCAN44	uc002cuq.3	O14978	OTTHUMG00000129323	ENST00000219069.5:c.1188C>A	16.37:g.3339694C>A	ENSP00000219069:p.His396Gln					ZNF263_uc010uww.1_Missense_Mutation_p.H44Q|ZNF263_uc002cur.2_Missense_Mutation_p.H44Q	p.H396Q	NM_005741	NP_005732	O14978	ZN263_HUMAN			6	1520	+			396			C2H2-type 1.		B2R634|O43387|Q96H95	Missense_Mutation	SNP	ENST00000219069.5	37	c.1188C>A	CCDS10499.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.881009	0.33255	.	.	ENSG00000006194	ENST00000538765;ENST00000219069	D;D	0.99974	-10.2;-10.2	5.49	0.242	0.15498	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.225081	0.31809	N	0.007036	D	0.99953	0.9980	H	0.95187	3.635	0.80722	D	1	P	0.38110	0.618	B	0.37387	0.248	D	0.95477	0.8557	10	0.87932	D	0	.	4.8778	0.13665	0.0:0.4532:0.147:0.3998	.	396	O14978	ZN263_HUMAN	Q	44;396	ENSP00000444497:H44Q;ENSP00000219069:H396Q	ENSP00000219069:H396Q	H	+	3	2	ZNF263	3279695	0.999000	0.42202	0.996000	0.52242	0.632000	0.37999	1.240000	0.32731	-0.054000	0.13266	-0.136000	0.14681	CAC		0.478	ZNF263-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251463.2		
ATF7IP2	80063	broad.mit.edu	37	16	10525310	10525310	+	Missense_Mutation	SNP	A	A	G			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr16:10525310A>G	ENST00000396560.2	+	3	1060	c.833A>G	c.(832-834)aAc>aGc	p.N278S	ATF7IP2_ENST00000324570.5_Missense_Mutation_p.N278S|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.N278S|ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000396559.1_Missense_Mutation_p.N278S	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	278					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				large_intestine(3)	3						ACTAATAACAACAGTAAGTAT	0.313																																						uc002czu.2																			0					0						c.(832-834)AAC>AGC		activating transcription factor 7 interacting							37.0	38.0	38.0					16																	10525310		2161	4277	6438	SO:0001583	missense	80063				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr16:10525310A>G	AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.833A>G	16.37:g.10525310A>G	ENSP00000379808:p.Asn278Ser					ATF7IP2_uc002czv.2_Missense_Mutation_p.N278S|ATF7IP2_uc010uyo.1_RNA|ATF7IP2_uc010uyp.1_Intron|ATF7IP2_uc002czw.2_Missense_Mutation_p.N278S|ATF7IP2_uc010uyq.1_RNA	p.N278S	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN			3	1060	+			278					B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Missense_Mutation	SNP	ENST00000396560.2	37	c.833A>G	CCDS10540.1	.	.	.	.	.	.	.	.	.	.	A	10.17	1.276439	0.23307	.	.	ENSG00000166669	ENST00000396559;ENST00000396560;ENST00000535850;ENST00000356427;ENST00000324570	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	5.61	4.49	0.54785	.	1.124800	0.06700	N	0.771317	T	0.52964	0.1767	L	0.44542	1.39	0.09310	N	0.999997	D;D	0.60160	0.987;0.965	P;P	0.59357	0.856;0.786	T	0.30937	-0.9961	10	0.45353	T	0.12	1.0648	8.8221	0.35032	0.8328:0.0:0.0:0.1672	.	278;278	Q5U623-2;Q5U623	.;MCAF2_HUMAN	S	278	ENSP00000379807:N278S;ENSP00000379808:N278S;ENSP00000440791:N278S;ENSP00000348799:N278S;ENSP00000322811:N278S	ENSP00000322811:N278S	N	+	2	0	ATF7IP2	10432811	0.774000	0.28592	0.408000	0.26446	0.181000	0.23173	1.288000	0.33296	0.920000	0.36970	0.459000	0.35465	AAC		0.313	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251961.1	NM_024997	
AQP8	343	broad.mit.edu	37	16	25232824	25232824	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr16:25232824G>A	ENST00000219660.5	+	3	432	c.307G>A	c.(307-309)Gga>Aga	p.G103R	AQP8_ENST00000566125.1_Missense_Mutation_p.G97R	NM_001169.2	NP_001160.2	O94778	AQP8_HUMAN	aquaporin 8	103					canalicular bile acid transport (GO:0015722)|cellular response to cAMP (GO:0071320)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	apical part of cell (GO:0045177)|integral component of plasma membrane (GO:0005887)|intracellular canaliculus (GO:0046691)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	water channel activity (GO:0015250)			NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		CATGCTGATCGGAGGCCTCAA	0.627																																						uc002doc.2																			0				upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	3						c.(307-309)GGA>AGA		aquaporin 8							110.0	93.0	99.0					16																	25232824		2197	4300	6497	SO:0001583	missense	343				cellular response to cAMP	integral to plasma membrane	water channel activity	g.chr16:25232824G>A	BC040630	CCDS10626.1	16p12	2008-02-05			ENSG00000103375	ENSG00000103375		"""Ion channels / Aquaporins"""	642	protein-coding gene	gene with protein product		603750				9806845, 10393433	Standard	NM_001169		Approved		uc002doc.3	O94778	OTTHUMG00000097013	ENST00000219660.5:c.307G>A	16.37:g.25232824G>A	ENSP00000219660:p.Gly103Arg						p.G103R	NM_001169	NP_001160	O94778	AQP8_HUMAN		GBM - Glioblastoma multiforme(48;0.044)	3	389	+			103			Helical; (Potential).		Q8IUU3|Q9UIA4	Missense_Mutation	SNP	ENST00000219660.5	37	c.307G>A	CCDS10626.1	.	.	.	.	.	.	.	.	.	.	G	33	5.230849	0.95207	.	.	ENSG00000103375	ENST00000219660	D	0.94457	-3.43	5.63	5.63	0.86233	Aquaporin-like (2);	0.047298	0.85682	D	0.000000	D	0.96688	0.8919	M	0.66560	2.04	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.96263	0.9192	10	0.46703	T	0.11	-8.4864	17.1684	0.86822	0.0:0.0:1.0:0.0	.	103	O94778	AQP8_HUMAN	R	103	ENSP00000219660:G103R	ENSP00000219660:G103R	G	+	1	0	AQP8	25140325	1.000000	0.71417	0.960000	0.40013	0.927000	0.56198	7.474000	0.81024	2.644000	0.89710	0.655000	0.94253	GGA		0.627	AQP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214102.2	NM_001169	
TP53	7157	broad.mit.edu	37	17	7577114	7577114	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr17:7577114C>T	ENST00000269305.4	-	8	1013	c.824G>A	c.(823-825)tGt>tAt	p.C275Y	TP53_ENST00000445888.2_Missense_Mutation_p.C275Y|TP53_ENST00000420246.2_Missense_Mutation_p.C275Y|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.C275Y|TP53_ENST00000455263.2_Missense_Mutation_p.C275Y|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	275	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7887414}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C275Y(53)|p.C275F(37)|p.0?(8)|p.C275fs*70(3)|p.?(2)|p.C275S(2)|p.C275fs*20(1)|p.L265_K305del41(1)|p.R273_C275delRVC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.A276fs*29(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGGACAGGCACAAACACGCAC	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		115	Substitution - Missense(92)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Unknown(2)	p.C275Y(44)|p.C275F(34)|p.C275G(7)|p.C275W(7)|p.0?(7)|p.C275R(6)|p.C275C(4)|p.C275fs*70(2)|p.C275fs*31(2)|p.?(2)|p.C275S(2)|p.R273_C275delRVC(1)|p.C275_A276ins10(1)|p.V274_P278del(1)|p.C275*(1)|p.F270_D281del12(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275fs*20(1)|p.A276fs*29(1)	lung(14)|large_intestine(13)|breast(13)|upper_aerodigestive_tract(12)|central_nervous_system(10)|haematopoietic_and_lymphoid_tissue(10)|ovary(7)|urinary_tract(6)|stomach(5)|oesophagus(5)|bone(5)|liver(5)|skin(3)|pancreas(2)|NS(2)|prostate(2)|biliary_tract(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM076568|CM951234	TP53	M		c.(823-825)TGT>TAT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							71.0	61.0	64.0					17																	7577114		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577114C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.824G>A	17.37:g.7577114C>T	ENSP00000269305:p.Cys275Tyr	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.C275Y|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C143Y|TP53_uc010cng.1_Missense_Mutation_p.C143Y|TP53_uc002gii.1_Missense_Mutation_p.C143Y|TP53_uc010cnh.1_Missense_Mutation_p.C275Y|TP53_uc010cni.1_Missense_Mutation_p.C275Y|TP53_uc002gij.2_Missense_Mutation_p.C275Y	p.C275Y	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1018	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	275		C -> S (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.824G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.605675	0.87157	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99874	-7.39;-7.39;-7.39;-7.39;-7.39;-7.39	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99883	0.9944	M	0.92738	3.34	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;0.997;0.997	D	0.96317	0.9233	10	0.87932	D	0	-17.2181	15.662	0.77193	0.0:1.0:0.0:0.0	.	275;275;275;275	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	Y	275;275;275;275;275;264;143	ENSP00000352610:C275Y;ENSP00000269305:C275Y;ENSP00000398846:C275Y;ENSP00000391127:C275Y;ENSP00000391478:C275Y;ENSP00000425104:C143Y	ENSP00000269305:C275Y	C	-	2	0	TP53	7517839	1.000000	0.71417	0.999000	0.59377	0.904000	0.53231	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	TGT		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
TP53	7157	broad.mit.edu	37	17	7577610	7577610	+	Splice_Site	SNP	T	T	C			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr17:7577610T>C	ENST00000269305.4	-	7	862		c.e7-2		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000574684.1_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(43)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGAGCCAACCTAGGAGATAAC	0.522		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		53	Unknown(43)|Whole gene deletion(8)|Insertion - In frame(1)|Insertion - Frameshift(1)	p.?(22)|p.0?(7)|p.V225fs*24(1)|p.E224_V225insXX(1)	lung(16)|liver(7)|upper_aerodigestive_tract(5)|biliary_tract(5)|ovary(5)|breast(4)|bone(4)|central_nervous_system(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|urinary_tract(1)|oesophagus(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.e7-1	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							88.0	74.0	79.0					17																	7577610		2203	4300	6503	SO:0001630	splice_region_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577610T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.673-2A>G	17.37:g.7577610T>C		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Splice_Site_p.V225_splice|TP53_uc002gih.2_Splice_Site_p.V225_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Splice_Site_p.V93_splice|TP53_uc010cng.1_Splice_Site_p.V93_splice|TP53_uc002gii.1_Splice_Site_p.V93_splice|TP53_uc010cnh.1_Splice_Site_p.V225_splice|TP53_uc010cni.1_Splice_Site_p.V225_splice|TP53_uc002gij.2_Splice_Site_p.V225_splice|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron	p.V225_splice	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	867	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37	c.673_splice	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	17.76	3.468043	0.63625	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	.	.	.	3.35	3.35	0.38373	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.3302	0.43818	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7518335	1.000000	0.71417	0.324000	0.25361	0.557000	0.35523	7.634000	0.83273	1.750000	0.51863	0.379000	0.24179	.		0.522	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron
CCDC42	146849	broad.mit.edu	37	17	8644917	8644917	+	Nonsense_Mutation	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr17:8644917G>A	ENST00000293845.3	-	4	593	c.367C>T	c.(367-369)Cag>Tag	p.Q123*	CCDC42_ENST00000539522.2_Nonsense_Mutation_p.Q123*	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	123										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						GTCAGCTCCTGCATGTGCTGG	0.602																																						uc002gln.2																			0				ovary(1)	1						c.(367-369)CAG>TAG		coiled-coil domain containing 42 isoform 1							117.0	106.0	110.0					17																	8644917		2203	4300	6503	SO:0001587	stop_gained	146849							g.chr17:8644917G>A	AK057296	CCDS11145.1, CCDS54088.1	17p13.1	2012-05-28			ENSG00000161973	ENSG00000161973			26528	protein-coding gene	gene with protein product							Standard	NM_144681		Approved	FLJ32734, CCDC42A	uc002gln.3	Q96M95		ENST00000293845.3:c.367C>T	17.37:g.8644917G>A	ENSP00000293845:p.Gln123*					CCDC42_uc002glo.2_Nonsense_Mutation_p.Q123*	p.Q123*	NM_144681	NP_653282	Q96M95	CCD42_HUMAN			4	594	-			123			Potential.		Q8N6Q0	Nonsense_Mutation	SNP	ENST00000293845.3	37	c.367C>T	CCDS11145.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.880425	0.51801	.	.	ENSG00000161973	ENST00000293845;ENST00000539522	.	.	.	5.16	1.42	0.22433	.	0.773586	0.11326	N	0.575559	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-11.9052	8.6972	0.34303	0.0:0.1124:0.4713:0.4163	.	.	.	.	X	123	.	ENSP00000293845:Q123X	Q	-	1	0	CCDC42	8585642	0.001000	0.12720	0.001000	0.08648	0.033000	0.12548	0.576000	0.23744	0.495000	0.27882	0.491000	0.48974	CAG		0.602	CCDC42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442491.1	NM_144681	
DNAH9	1770	broad.mit.edu	37	17	11568211	11568211	+	Missense_Mutation	SNP	C	C	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr17:11568211C>A	ENST00000262442.4	+	15	2725	c.2657C>A	c.(2656-2658)tCt>tAt	p.S886Y	DNAH9_ENST00000454412.2_Missense_Mutation_p.S886Y	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	886	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TATGTTAACTCTATTGACAAT	0.383																																						uc002gne.2																			0				skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(2656-2658)TCT>TAT		dynein, axonemal, heavy chain 9 isoform 2							123.0	122.0	123.0					17																	11568211		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11568211C>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.2657C>A	17.37:g.11568211C>A	ENSP00000262442:p.Ser886Tyr					DNAH9_uc010coo.2_Missense_Mutation_p.S180Y	p.S886Y	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	15	2725	+		Breast(5;0.0122)|all_epithelial(5;0.131)	886			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.2657C>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.690038	0.00100	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.25085	1.86;1.82	5.56	3.21	0.36854	.	0.237331	0.36200	N	0.002735	T	0.03520	0.0101	N	0.00049	-2.42	0.25269	N	0.989536	B	0.02656	0.0	B	0.01281	0.0	T	0.41662	-0.9496	10	0.02654	T	1	.	8.2499	0.31710	0.7506:0.1807:0.0686:0.0	.	886	Q9NYC9	DYH9_HUMAN	Y	886	ENSP00000262442:S886Y;ENSP00000414874:S886Y	ENSP00000262442:S886Y	S	+	2	0	DNAH9	11508936	1.000000	0.71417	0.098000	0.21074	0.016000	0.09150	4.684000	0.61686	0.259000	0.21709	-1.479000	0.00991	TCT		0.383	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	
DHX58	79132	broad.mit.edu	37	17	40263362	40263362	+	Missense_Mutation	SNP	G	G	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr17:40263362G>T	ENST00000251642.3	-	4	544	c.322C>A	c.(322-324)Cag>Aag	p.Q108K		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	108	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of innate immune response (GO:0045824)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of type I interferon production (GO:0032481)|regulation of innate immune response (GO:0045088)|response to virus (GO:0009615)|viral process (GO:0016032)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AGTGCCATCTGCAGAAGCTCT	0.622																																						uc002hyw.3																			0					0						c.(322-324)CAG>AAG		RNA helicase LGP2							50.0	47.0	48.0					17																	40263362		2203	4300	6503	SO:0001583	missense	79132				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding	g.chr17:40263362G>T	BC014949	CCDS11416.1	17q21.2	2008-02-05			ENSG00000108771	ENSG00000108771			29517	protein-coding gene	gene with protein product	"""RNA helicase LGP2"""	608588				11735219	Standard	NM_024119		Approved	LGP2, D11LGP2	uc002hyw.3	Q96C10	OTTHUMG00000133493	ENST00000251642.3:c.322C>A	17.37:g.40263362G>T	ENSP00000251642:p.Gln108Lys					DHX58_uc002hyv.3_Intron|DHX58_uc010wgf.1_Missense_Mutation_p.Q101K	p.Q108K	NM_024119	NP_077024	Q96C10	DHX58_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	4	545	-		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)	108			Helicase ATP-binding.		Q9HAM6	Missense_Mutation	SNP	ENST00000251642.3	37	c.322C>A	CCDS11416.1	.	.	.	.	.	.	.	.	.	.	G	7.766	0.706445	0.15239	.	.	ENSG00000108771	ENST00000251642;ENST00000413196;ENST00000430773	T;T;T	0.35605	1.3;1.3;1.3	5.54	5.54	0.83059	DEAD-like helicase (2);Helicase/UvrB domain (1);	0.377701	0.28214	N	0.016176	T	0.29850	0.0746	L	0.29908	0.895	0.30140	N	0.803991	P;P	0.40360	0.714;0.515	B;B	0.37731	0.257;0.197	T	0.13098	-1.0522	10	0.28530	T	0.3	.	18.0465	0.89334	0.0:0.0:1.0:0.0	.	101;108	B7Z455;Q96C10	.;DHX58_HUMAN	K	108	ENSP00000251642:Q108K;ENSP00000416389:Q108K;ENSP00000404639:Q108K	ENSP00000251642:Q108K	Q	-	1	0	DHX58	37516888	1.000000	0.71417	0.990000	0.47175	0.661000	0.39034	4.478000	0.60230	2.620000	0.88729	0.555000	0.69702	CAG		0.622	DHX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257396.1	NM_024119	
HEATR6	63897	broad.mit.edu	37	17	58137429	58137429	+	Missense_Mutation	SNP	G	G	C			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr17:58137429G>C	ENST00000184956.6	-	10	1461	c.1445C>G	c.(1444-1446)tCt>tGt	p.S482C	HEATR6_ENST00000585976.1_Missense_Mutation_p.S482C	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	482							poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			CAAGATGGCAGATAAAACTTG	0.433																																						uc002iyk.1																			0				ovary(1)|skin(1)	2						c.(1444-1446)TCT>TGT		HEAT repeat containing 6							107.0	103.0	104.0					17																	58137429		2203	4300	6503	SO:0001583	missense	63897						binding	g.chr17:58137429G>C	BX640819	CCDS11623.1	17q23.2	2007-05-01				ENSG00000068097			24076	protein-coding gene	gene with protein product	"""amplified in breast cancer 1"""					12755490	Standard	NM_022070		Approved	ABC1, FLJ22087	uc002iyk.1	Q6AI08		ENST00000184956.6:c.1445C>G	17.37:g.58137429G>C	ENSP00000184956:p.Ser482Cys					HEATR6_uc010ddk.1_Missense_Mutation_p.S21C|HEATR6_uc010wos.1_Missense_Mutation_p.S314C	p.S482C	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)		10	1462	-	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		482			HEAT 2.		B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Missense_Mutation	SNP	ENST00000184956.6	37	c.1445C>G	CCDS11623.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.846064	0.91277	.	.	ENSG00000068097	ENST00000184956;ENST00000393017	T	0.66460	-0.21	5.68	5.68	0.88126	Armadillo-like helical (1);Armadillo-type fold (1);	0.058788	0.64402	D	0.000001	T	0.81592	0.4855	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.993;0.996	T	0.81965	-0.0691	10	0.72032	D	0.01	-14.5639	19.2306	0.93839	0.0:0.0:1.0:0.0	.	329;482	E7ESB9;Q6AI08	.;HEAT6_HUMAN	C	482;329	ENSP00000184956:S482C	ENSP00000184956:S482C	S	-	2	0	HEATR6	55492211	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.278000	0.95766	2.869000	0.98440	0.558000	0.71614	TCT		0.433	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449165.1	NM_022070	
KCNJ16	3773	broad.mit.edu	37	17	68128948	68128948	+	Missense_Mutation	SNP	A	A	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr17:68128948A>T	ENST00000589377.1	+	2	883	c.720A>T	c.(718-720)ttA>ttT	p.L240F	KCNJ16_ENST00000283936.1_Missense_Mutation_p.L240F|KCNJ16_ENST00000392670.1_Missense_Mutation_p.L240F|KCNJ16_ENST00000586462.1_Missense_Mutation_p.L279F|KCNJ16_ENST00000392671.1_Missense_Mutation_p.L240F|KCNJ16_ENST00000585558.1_Missense_Mutation_p.L275F	NM_001270422.1	NP_001257351.1	Q9NPI9	KCJ16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	240					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					ACCTCAAATTAGTCAACGACC	0.483																																						uc002jin.2																			0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(718-720)TTA>TTT		potassium inwardly-rectifying channel J16							99.0	89.0	92.0					17																	68128948		2203	4300	6503	SO:0001583	missense	3773				synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr17:68128948A>T	AF153815	CCDS11687.1, CCDS74141.1	17q24.3	2011-07-05				ENSG00000153822		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6262	protein-coding gene	gene with protein product		605722				11240146, 16382105	Standard	NM_018658		Approved	Kir5.1, BIR9	uc002jio.4	Q9NPI9		ENST00000589377.1:c.720A>T	17.37:g.68128948A>T	ENSP00000465967:p.Leu240Phe					KCNJ16_uc002jio.2_Missense_Mutation_p.L240F|KCNJ16_uc002jip.2_Missense_Mutation_p.L240F|KCNJ16_uc002jiq.2_Missense_Mutation_p.L272F	p.L240F	NM_018658	NP_061128	Q9NPI9	IRK16_HUMAN			5	1206	+	Breast(10;2.96e-09)		240			Cytoplasmic (By similarity).			Missense_Mutation	SNP	ENST00000589377.1	37	c.720A>T	CCDS11687.1	.	.	.	.	.	.	.	.	.	.	A	12.36	1.914543	0.33815	.	.	ENSG00000153822	ENST00000283936;ENST00000392671;ENST00000392670	D;D;D	0.94417	-3.42;-3.42;-3.42	5.74	-9.1	0.00714	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.858381	0.10088	N	0.717596	D	0.92928	0.7750	L	0.28608	0.87	0.27382	N	0.955389	D;P	0.71674	0.998;0.889	D;P	0.72338	0.977;0.526	D	0.88246	0.2913	9	.	.	.	.	12.7904	0.57530	0.2414:0.1808:0.5778:0.0	.	240;240	A8K434;Q9NPI9	.;IRK16_HUMAN	F	240	ENSP00000283936:L240F;ENSP00000376439:L240F;ENSP00000376438:L240F	.	L	+	3	2	KCNJ16	65640543	0.076000	0.21285	0.014000	0.15608	0.141000	0.21300	-0.429000	0.06982	-1.697000	0.01420	-0.256000	0.11100	TTA		0.483	KCNJ16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450880.1	NM_018658	
SMCHD1	23347	broad.mit.edu	37	18	2688412	2688412	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr18:2688412G>A	ENST00000320876.6	+	6	997	c.659G>A	c.(658-660)cGt>cAt	p.R220H	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.R220H	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	220					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GGATATGTTCGTCCAGTACCA	0.368																																						uc002klm.3																			0					0						c.(658-660)CGT>CAT		structural maintenance of chromosomes flexible							104.0	101.0	102.0					18																	2688412		1905	4118	6023	SO:0001583	missense	23347				chromosome organization		ATP binding	g.chr18:2688412G>A	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.659G>A	18.37:g.2688412G>A	ENSP00000326603:p.Arg220His						p.R220H	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN			6	848	+			220					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	c.659G>A	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.605375	0.46423	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.24908	1.83;1.83	5.08	4.21	0.49690	ATPase-like, ATP-binding domain (2);	0.060918	0.64402	D	0.000003	T	0.39279	0.1072	L	0.34521	1.04	0.33983	D	0.648232	D	0.89917	1.0	D	0.79784	0.993	T	0.55667	-0.8105	10	0.87932	D	0	.	13.7539	0.62923	0.0748:0.0:0.9252:0.0	.	220	A6NHR9	SMHD1_HUMAN	H	220	ENSP00000326603:R220H;ENSP00000261598:R220H	ENSP00000261598:R220H	R	+	2	0	SMCHD1	2678412	1.000000	0.71417	0.964000	0.40570	0.795000	0.44927	5.892000	0.69790	1.260000	0.44134	0.655000	0.94253	CGT		0.368	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2		
DSG4	147409	broad.mit.edu	37	18	28993484	28993484	+	Missense_Mutation	SNP	G	G	A	rs186256193	byFrequency	TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr18:28993484G>A	ENST00000308128.4	+	16	3184	c.3049G>A	c.(3049-3051)Gtt>Att	p.V1017I	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.V1036I	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	1017					anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGGCCAAACCGTTGGCTCCAC	0.453													.|||	2	0.000399361	0.0	0.0014	5008	,	,		19483	0.001		0.0	False		,,,				2504	0.0					uc002kwq.2																			0				central_nervous_system(5)|ovary(3)	8						c.(3049-3051)GTT>ATT		desmoglein 4 isoform 2 preproprotein							88.0	90.0	89.0					18																	28993484		2203	4300	6503	SO:0001583	missense	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28993484G>A	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.3049G>A	18.37:g.28993484G>A	ENSP00000311859:p.Val1017Ile					DSG4_uc002kwr.2_Missense_Mutation_p.V1036I	p.V1017I	NM_177986	NP_817123	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		16	3184	+			1017			Cytoplasmic (Potential).		A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	37	c.3049G>A	CCDS11897.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	0.159	-1.083685	0.01888	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.56444	0.55;0.46	5.56	0.271	0.15640	.	1.378350	0.05336	N	0.529181	T	0.20373	0.0490	N	0.00538	-1.39	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.04013	0.001;0.0	T	0.13202	-1.0518	10	0.33940	T	0.23	.	6.2346	0.20756	0.6409:0.1258:0.2333:0.0	.	1036;1017	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	I	1017;1036	ENSP00000311859:V1017I;ENSP00000352785:V1036I	ENSP00000311859:V1017I	V	+	1	0	DSG4	27247482	0.822000	0.29219	0.074000	0.20217	0.045000	0.14185	0.187000	0.16998	-0.186000	0.10533	-0.194000	0.12790	GTT		0.453	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986	
CDH19	28513	broad.mit.edu	37	18	64218401	64218401	+	Silent	SNP	C	C	T	rs367564105		TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr18:64218401C>T	ENST00000540086.1	-	5	951	c.705G>A	c.(703-705)gcG>gcA	p.A235A	CDH19_ENST00000262150.2_Silent_p.A235A	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	343	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TTCCAGACAACGCTCCTGGCT	0.328																																						uc002lkc.1																			0				ovary(1)|skin(1)	2						c.(703-705)GCG>GCA		cadherin 19, type 2 preproprotein		C		1,4405	2.1+/-5.4	0,1,2202	83.0	88.0	86.0		705	-3.3	0.8	18		86	0,8600		0,0,4300	no	coding-synonymous	CDH19	NM_021153.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		235/773	64218401	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64218401C>T	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.705G>A	18.37:g.64218401C>T						CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Silent_p.A235A|CDH19_uc002lkd.2_Silent_p.A235A	p.A235A	NM_021153	NP_066976	Q9H159	CAD19_HUMAN			5	843	-		Esophageal squamous(42;0.0132)	235			Cadherin 2.|Extracellular (Potential).		O15098	Silent	SNP	ENST00000540086.1	37	c.705G>A	CCDS59325.1																																																																																				0.328	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000442285.1	NM_021153	
FBN3	84467	broad.mit.edu	37	19	8191373	8191373	+	Missense_Mutation	SNP	G	G	C			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr19:8191373G>C	ENST00000600128.1	-	20	2947	c.2533C>G	c.(2533-2535)Ccc>Gcc	p.P845A	FBN3_ENST00000601739.1_Missense_Mutation_p.P845A|FBN3_ENST00000270509.2_Missense_Mutation_p.P845A			Q75N90	FBN3_HUMAN	fibrillin 3	845	TB 4.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CGTTCGCAGGGGCTCCCCCAG	0.667																																						uc002mjf.2																			0				ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						c.(2533-2535)CCC>GCC		fibrillin 3 precursor							21.0	24.0	23.0					19																	8191373		2201	4300	6501	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8191373G>C		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.2533C>G	19.37:g.8191373G>C	ENSP00000470498:p.Pro845Ala						p.P845A	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			19	2554	-			845			TB 4.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.2533C>G	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	g	14.83	2.653764	0.47362	.	.	ENSG00000142449	ENST00000270509	D	0.93488	-3.23	3.63	3.63	0.41609	Matrix fibril-associated (3);TGF-beta binding (1);	0.000000	0.85682	U	0.000000	D	0.95950	0.8681	M	0.83312	2.635	0.54753	D	0.999988	D	0.64830	0.994	P	0.59056	0.851	D	0.96558	0.9413	10	0.66056	D	0.02	.	15.2946	0.73894	0.0:0.0:1.0:0.0	.	845	Q75N90	FBN3_HUMAN	A	845	ENSP00000270509:P845A	ENSP00000270509:P845A	P	-	1	0	FBN3	8097373	1.000000	0.71417	0.979000	0.43373	0.761000	0.43186	8.852000	0.92215	1.587000	0.49959	0.313000	0.20887	CCC		0.667	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447	
TNPO2	30000	broad.mit.edu	37	19	12825902	12825902	+	Missense_Mutation	SNP	G	G	A	rs373758530		TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr19:12825902G>A	ENST00000592287.1	-	8	838	c.730C>T	c.(730-732)Cgg>Tgg	p.R244W	TNPO2_ENST00000441499.1_Missense_Mutation_p.R244W|TNPO2_ENST00000589956.1_Intron|TNPO2_ENST00000450764.2_Missense_Mutation_p.R244W|TNPO2_ENST00000588216.1_Missense_Mutation_p.R244W|TNPO2_ENST00000356861.5_Missense_Mutation_p.R244W|TNPO2_ENST00000425528.1_Missense_Mutation_p.R244W	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	244					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTGTCAATCCGCACTTCCAGA	0.632																																						uc002muo.2																			0				ovary(1)	1						c.(730-732)CGG>TGG		transportin 2 (importin 3, karyopherin beta 2b)		G	TRP/ARG,TRP/ARG,TRP/ARG	0,4298		0,0,2149	65.0	70.0	68.0		730,730,730	4.6	1.0	19		68	1,8507		0,1,4253	no	missense,missense,missense	TNPO2	NM_001136195.1,NM_001136196.1,NM_013433.4	101,101,101	0,1,6402	AA,AG,GG		0.0118,0.0,0.0078	possibly-damaging,possibly-damaging,possibly-damaging	244/888,244/898,244/888	12825902	1,12805	2149	4254	6403	SO:0001583	missense	30000				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr19:12825902G>A	AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"""Importins"""	19998	protein-coding gene	gene with protein product	"""importin 3"", ""karyopherin beta 2b"""	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.730C>T	19.37:g.12825902G>A	ENSP00000468434:p.Arg244Trp					TNPO2_uc002mup.2_Missense_Mutation_p.R336W|TNPO2_uc002muq.2_Missense_Mutation_p.R244W|TNPO2_uc002mur.2_Missense_Mutation_p.R244W	p.R244W	NM_001136196	NP_001129668	O14787	TNPO2_HUMAN			8	915	-			244			HEAT 3.		O14655|Q6IN77	Missense_Mutation	SNP	ENST00000592287.1	37	c.730C>T	CCDS45991.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.492010	0.64074	0.0	1.18E-4	ENSG00000105576	ENST00000536114;ENST00000425528;ENST00000441499;ENST00000450764;ENST00000356861;ENST00000420511;ENST00000546320	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	5.63	4.58	0.56647	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83862	0.5346	M	0.89601	3.045	0.80722	D	1	D;D	0.89917	0.994;1.0	P;D	0.67382	0.476;0.951	D	0.87699	0.2559	10	0.87932	D	0	-17.4519	15.0242	0.71656	0.0:0.0:0.8567:0.1433	.	408;244	Q4LE60;O14787	.;TNPO2_HUMAN	W	408;244;244;244;244;244;244	ENSP00000407182:R244W;ENSP00000389648:R244W;ENSP00000397379:R244W;ENSP00000349321:R244W	ENSP00000349321:R244W	R	-	1	2	TNPO2	12686902	1.000000	0.71417	0.989000	0.46669	0.913000	0.54294	6.021000	0.70832	1.355000	0.45865	0.555000	0.69702	CGG		0.632	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1	NM_013433	
ZNF17	7565	broad.mit.edu	37	19	57931383	57931383	+	Missense_Mutation	SNP	A	A	G			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr19:57931383A>G	ENST00000601808.1	+	3	736	c.523A>G	c.(523-525)Agg>Ggg	p.R175G	ZNF17_ENST00000307658.7_Missense_Mutation_p.R177G|AC004076.7_ENST00000597410.1_Intron	NM_006959.2	NP_008890.2	P17021	ZNF17_HUMAN	zinc finger protein 17	175					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		GAAGCCACACAGGGACACTCA	0.488																																					Melanoma(149;1637 1853 29914 42869 44988)	uc002qoo.1																			0				central_nervous_system(1)	1						c.(523-525)AGG>GGG		zinc finger protein 17							94.0	99.0	98.0					19																	57931383		2178	4289	6467	SO:0001583	missense	7565				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57931383A>G	X52341	CCDS42636.1	19q13.43	2013-01-08	2006-05-10			ENSG00000186272		"""Zinc fingers, C2H2-type"", ""-"""	12958	protein-coding gene	gene with protein product			"""zinc finger protein 17 (HPF3, KOX 10)"""			2115127, 2014798	Standard	NM_006959		Approved	HPF3, KOX10, KIAA1947, FLJ40864, FLJ46058, FLJ46615	uc002qoo.1	P17021		ENST00000601808.1:c.523A>G	19.37:g.57931383A>G	ENSP00000471905:p.Arg175Gly					ZNF547_uc002qpm.3_Intron|ZNF17_uc002qop.1_Missense_Mutation_p.R177G	p.R175G	NM_006959	NP_008890	P17021	ZNF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)	3	754	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	175					B3KXU2|B3KY20|Q8N7M1|Q8N893|Q8TF54	Missense_Mutation	SNP	ENST00000601808.1	37	c.523A>G	CCDS42636.1	.	.	.	.	.	.	.	.	.	.	A	11.97	1.796460	0.31777	.	.	ENSG00000186272	ENST00000307658	.	.	.	1.97	0.465	0.16711	.	.	.	.	.	T	0.19406	0.0466	N	0.25094	0.71	0.09310	N	1	P;B	0.35908	0.527;0.001	B;B	0.31390	0.129;0.003	T	0.12426	-1.0548	8	0.49607	T	0.09	.	4.5914	0.12307	0.7362:0.0:0.2638:0.0	.	177;175	P17021-2;P17021	.;ZNF17_HUMAN	G	175	.	ENSP00000302455:R175G	R	+	1	2	ZNF17	62623195	0.000000	0.05858	0.000000	0.03702	0.513000	0.34164	0.273000	0.18662	0.064000	0.16427	0.528000	0.53228	AGG		0.488	ZNF17-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466384.1	NM_006959	
ALLC	55821	broad.mit.edu	37	2	3727515	3727515	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr2:3727515G>A	ENST00000252505.3	+	5	391	c.229G>A	c.(229-231)Gtg>Atg	p.V77M		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	96					allantoin catabolic process (GO:0000256)		allantoicase activity (GO:0004037)			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		GGGCTTCGACGTGGACGTTTC	0.547										HNSCC(21;0.051)																												uc010ewt.2																			0				central_nervous_system(1)	1						c.(229-231)GTG>ATG		allantoicase isoform a							150.0	158.0	156.0					2																	3727515		2110	4218	6328	SO:0001583	missense	55821						allantoicase activity	g.chr2:3727515G>A	AF215924	CCDS46223.1	2p25.3	2008-02-05			ENSG00000151360	ENSG00000151360			17377	protein-coding gene	gene with protein product		612396				11054555	Standard	NM_018436		Approved	ALC	uc010ewt.3	Q8N6M5	OTTHUMG00000151485	ENST00000252505.3:c.229G>A	2.37:g.3727515G>A	ENSP00000252505:p.Val77Met	HNSCC(21;0.051)					p.V77M	NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)	5	390	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)	96					Q53T95|Q5RL81|Q96RE6|Q9NZA7	Missense_Mutation	SNP	ENST00000252505.3	37	c.229G>A	CCDS46223.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.433280	0.83776	.	.	ENSG00000151360	ENST00000252505	.	.	.	5.77	5.77	0.91146	Allantoicase domain (1);Galactose-binding domain-like (1);	0.110926	0.64402	D	0.000010	D	0.85270	0.5658	M	0.89534	3.04	0.45621	D	0.998558	D	0.89917	1.0	D	0.75020	0.985	D	0.87446	0.2398	9	0.87932	D	0	-11.2811	17.8364	0.88699	0.0:0.0:1.0:0.0	.	96	Q8N6M5	ALLC_HUMAN	M	77	.	ENSP00000252505:V77M	V	+	1	0	ALLC	3705390	1.000000	0.71417	0.984000	0.44739	0.712000	0.41017	6.678000	0.74508	2.884000	0.98904	0.655000	0.94253	GTG		0.547	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322855.1		
RAD51AP2	729475	broad.mit.edu	37	2	17696534	17696534	+	Missense_Mutation	SNP	C	C	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr2:17696534C>A	ENST00000399080.2	-	1	3172	c.3149G>T	c.(3148-3150)tGg>tTg	p.W1050L		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	1050										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TACAGTTTTCCATTTAAATAA	0.368																																						uc002rcl.1																			0				ovary(1)	1						c.(3148-3150)TGG>TTG		RAD51 associated protein 2							117.0	107.0	110.0					2																	17696534		1833	4082	5915	SO:0001583	missense	729475							g.chr2:17696534C>A	AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.3149G>T	2.37:g.17696534C>A	ENSP00000382030:p.Trp1050Leu					RAD51AP2_uc010exn.1_Missense_Mutation_p.W1041L	p.W1050L	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN			1	3173	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		1050						Missense_Mutation	SNP	ENST00000399080.2	37	c.3149G>T	CCDS42656.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.320994	0.60634	.	.	ENSG00000214842	ENST00000399080	T	0.54866	0.55	5.3	5.3	0.74995	.	.	.	.	.	T	0.60196	0.2250	L	0.32530	0.975	0.31282	N	0.690422	D	0.76494	0.999	D	0.79784	0.993	T	0.62932	-0.6749	9	0.87932	D	0	-2.2399	9.7457	0.40446	0.0:0.9005:0.0:0.0995	.	1050	Q09MP3	R51A2_HUMAN	L	1050	ENSP00000382030:W1050L	ENSP00000382030:W1050L	W	-	2	0	RAD51AP2	17560015	1.000000	0.71417	0.982000	0.44146	0.653000	0.38743	2.625000	0.46452	2.640000	0.89533	0.655000	0.94253	TGG		0.368	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	NM_001099218	
MSH6	2956	broad.mit.edu	37	2	48026087	48026087	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr2:48026087C>T	ENST00000234420.5	+	4	1117	c.965C>T	c.(964-966)gCc>gTc	p.A322V	FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_Missense_Mutation_p.A20V|MSH6_ENST00000540021.1_Missense_Mutation_p.A192V	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	322					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ACGCCCTCAGCCACCAAACAA	0.473			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													uc002rwd.3			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	Mis|N|F|S	mutS homolog 6 (E. coli)			E		colorectal|endometrial|ovarian	colorectal		2	Whole gene deletion(2)		haematopoietic_and_lymphoid_tissue(2)	large_intestine(53)|central_nervous_system(28)|endometrium(28)|stomach(22)|haematopoietic_and_lymphoid_tissue(9)|lung(7)|skin(6)|urinary_tract(5)|breast(5)|ovary(3)|thyroid(1)|upper_aerodigestive_tract(1)	168						c.(964-966)GCC>GTC	MMR	mutS homolog 6							148.0	157.0	154.0					2																	48026087		2203	4300	6503	SO:0001583	missense	2956	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	g.chr2:48026087C>T	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.965C>T	2.37:g.48026087C>T	ENSP00000234420:p.Ala322Val					MSH6_uc002rwc.2_Missense_Mutation_p.A322V|MSH6_uc010fbj.2_Missense_Mutation_p.A20V|MSH6_uc010yoi.1_Missense_Mutation_p.A192V|MSH6_uc010yoj.1_Missense_Mutation_p.A20V	p.A322V	NM_000179	NP_000170	P52701	MSH6_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		4	1117	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	322					B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Missense_Mutation	SNP	ENST00000234420.5	37	c.965C>T	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	C	8.720	0.914229	0.17907	.	.	ENSG00000116062	ENST00000234420;ENST00000544857;ENST00000540021;ENST00000538136	D;D;D	0.87650	-1.87;-2.04;-2.28	4.0	0.899	0.19271	.	0.441952	0.25233	N	0.032145	T	0.77758	0.4178	L	0.35723	1.085	0.09310	N	0.999991	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.001;0.002	T	0.61182	-0.7114	10	0.22706	T	0.39	-0.9786	9.6006	0.39601	0.0:0.7199:0.0:0.2801	.	192;322;322	B4DF41;P52701;P52701-2	.;MSH6_HUMAN;.	V	322;320;192;20	ENSP00000234420:A322V;ENSP00000446475:A192V;ENSP00000438580:A20V	ENSP00000234420:A322V	A	+	2	0	MSH6	47879591	0.019000	0.18553	0.005000	0.12908	0.619000	0.37552	2.812000	0.47994	0.361000	0.24292	0.561000	0.74099	GCC		0.473	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179	
TSGA10	80705	broad.mit.edu	37	2	99634812	99634812	+	Splice_Site	SNP	C	C	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr2:99634812C>T	ENST00000393483.3	-	20	2767	c.1923G>A	c.(1921-1923)agG>agA	p.R641R	TSGA10_ENST00000355053.4_Splice_Site_p.R641R|TSGA10_ENST00000410001.1_Splice_Site_p.R641R|TSGA10_ENST00000539964.1_Splice_Site_p.R641R	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	641	Interaction with HIF1A. {ECO:0000250}.				cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						CGGCCCTCTCCCTAAAGCAAA	0.323																																						uc002szg.3																			0				ovary(1)|central_nervous_system(1)	2						c.(1921-1923)AGG>AGA		testis specific, 10							92.0	92.0	92.0					2																	99634812		2203	4300	6503	SO:0001630	splice_region_variant	80705				spermatogenesis	cytoplasm|nuclear membrane		g.chr2:99634812C>T	AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"""cancer/testis antigen 79"""	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.1923-1G>A	2.37:g.99634812C>T						TSGA10_uc002szh.3_Silent_p.R641R|TSGA10_uc002szi.3_Silent_p.R641R|TSGA10_uc010fin.1_Silent_p.R641R	p.R641R	NM_182911	NP_878915	Q9BZW7	TSG10_HUMAN			18	2551	-			641			Interaction with HIF1A (By similarity).		B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Silent	SNP	ENST00000393483.3	37	c.1923G>A	CCDS2037.1																																																																																				0.323	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253125.1	NM_182911	Silent
IL1R1	3554	broad.mit.edu	37	2	102789175	102789175	+	Missense_Mutation	SNP	A	A	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr2:102789175A>T	ENST00000410023.1	+	9	1186	c.868A>T	c.(868-870)Agt>Tgt	p.S290C	AC007271.3_ENST00000428188.1_RNA|IL1R1_ENST00000233946.3_Missense_Mutation_p.S290C|IL1R1_ENST00000409329.1_Missense_Mutation_p.S290C|IL1R1_ENST00000424272.1_Missense_Mutation_p.S290C|IL1R1_ENST00000409929.1_Missense_Mutation_p.S290C|IL1R1_ENST00000409288.1_Missense_Mutation_p.S290C|IL1R1_ENST00000409589.1_Intron			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	290	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|interleukin-1-mediated signaling pathway (GO:0070498)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)|platelet-derived growth factor receptor binding (GO:0005161)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	CAAAAGAAGGAGTACCCTCAT	0.348																																						uc002tbq.2																			0				skin(1)	1						c.(868-870)AGT>TGT		interleukin 1 receptor, type I precursor	Anakinra(DB00026)						116.0	107.0	110.0					2																	102789175		2203	4300	6503	SO:0001583	missense	3554				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding	g.chr2:102789175A>T	M27492	CCDS2055.1, CCDS74547.1	2q12	2013-01-29			ENSG00000115594	ENSG00000115594		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5993	protein-coding gene	gene with protein product		147810		IL1R, IL1RA		1833184, 10191101	Standard	XM_005263929		Approved	D2S1473, CD121A	uc002tbr.3	P14778	OTTHUMG00000130783	ENST00000410023.1:c.868A>T	2.37:g.102789175A>T	ENSP00000386380:p.Ser290Cys					IL1R1_uc010fix.2_Missense_Mutation_p.S290C|IL1R1_uc002tbp.2_Missense_Mutation_p.S290C|IL1R1_uc002tbr.2_Missense_Mutation_p.S290C	p.S290C	NM_000877	NP_000868	P14778	IL1R1_HUMAN			9	1186	+			290			Ig-like C2-type 3.|Extracellular (Potential).		Q587I7	Missense_Mutation	SNP	ENST00000410023.1	37	c.868A>T	CCDS2055.1	.	.	.	.	.	.	.	.	.	.	A	15.96	2.987560	0.53934	.	.	ENSG00000115594	ENST00000409929;ENST00000424272;ENST00000409329;ENST00000428279;ENST00000409288;ENST00000410023;ENST00000233946	T;T;T;T;T;T;T	0.03553	3.89;3.89;3.89;3.89;3.89;3.89;3.89	4.32	-3.44	0.04796	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.533630	0.00977	N	0.003322	T	0.10508	0.0257	L	0.53249	1.67	0.09310	N	1	P;D;D	0.89917	0.708;0.999;1.0	P;D;D	0.75484	0.48;0.986;0.984	T	0.34775	-0.9815	10	0.38643	T	0.18	.	1.3855	0.02239	0.2952:0.149:0.0954:0.4604	.	290;290;290	B8ZZW4;P14778;B8ZZ73	.;IL1R1_HUMAN;.	C	290;290;290;146;290;290;290	ENSP00000386776:S290C;ENSP00000415366:S290C;ENSP00000387131:S290C;ENSP00000410461:S146C;ENSP00000386478:S290C;ENSP00000386380:S290C;ENSP00000233946:S290C	ENSP00000233946:S290C	S	+	1	0	IL1R1	102155607	0.000000	0.05858	0.000000	0.03702	0.471000	0.32888	-0.951000	0.03885	-0.698000	0.05085	0.482000	0.46254	AGT		0.348	IL1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253299.1		
SLC9A4	389015	broad.mit.edu	37	2	103141556	103141556	+	Missense_Mutation	SNP	G	G	A	rs368438401		TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr2:103141556G>A	ENST00000295269.4	+	10	2349	c.1892G>A	c.(1891-1893)cGc>cAc	p.R631H		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	631					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CTGATCCGCCGCCAGAACACC	0.507																																						uc002tbz.3																			0				skin(2)|central_nervous_system(1)	3						c.(1891-1893)CGC>CAC		solute carrier family 9 (sodium/hydrogen		G	HIS/ARG	0,4406		0,0,2203	155.0	161.0	159.0		1892	5.8	1.0	2		159	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC9A4	NM_001011552.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	631/799	103141556	1,13005	2203	4300	6503	SO:0001583	missense	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103141556G>A		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.1892G>A	2.37:g.103141556G>A	ENSP00000295269:p.Arg631His						p.R631H	NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN			10	2349	+			631			Cytoplasmic (Potential).		Q69YK0	Missense_Mutation	SNP	ENST00000295269.4	37	c.1892G>A	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.984733	0.74474	0.0	1.16E-4	ENSG00000180251	ENST00000295269	T	0.44083	0.93	5.84	5.84	0.93424	.	0.213337	0.50627	D	0.000109	T	0.69106	0.3074	M	0.83603	2.65	0.45962	D	0.998788	D	0.89917	1.0	D	0.78314	0.991	T	0.70912	-0.4743	10	0.56958	D	0.05	.	18.9173	0.92510	0.0:0.0:1.0:0.0	.	631	Q6AI14	SL9A4_HUMAN	H	631	ENSP00000295269:R631H	ENSP00000295269:R631H	R	+	2	0	SLC9A4	102507988	1.000000	0.71417	1.000000	0.80357	0.321000	0.28281	3.351000	0.52232	2.765000	0.95021	0.643000	0.83706	CGC		0.507	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3	
XIRP2	129446	broad.mit.edu	37	2	168103543	168103543	+	Nonsense_Mutation	SNP	C	C	T	rs374157391		TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr2:168103543C>T	ENST00000409195.1	+	9	5730	c.5641C>T	c.(5641-5643)Cga>Tga	p.R1881*	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Nonsense_Mutation_p.R1881*|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Nonsense_Mutation_p.R1659*	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1706					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATCAAGCCATCGATGGAAAGA	0.378																																						uc002udx.2																			0				skin(7)|ovary(6)|pancreas(1)	14						c.(5641-5643)CGA>TGA		xin actin-binding repeat containing 2 isoform 1		C	,,stop/ARG,,stop/ARG	0,3772		0,0,1886	83.0	75.0	78.0		,,4975,,5641	2.5	0.0	2		78	1,8245		0,1,4122	no	intron,intron,stop-gained,intron,stop-gained	XIRP2	NM_001079810.3,NM_001199143.1,NM_001199144.1,NM_001199145.1,NM_152381.5	,,,,	0,1,6008	TT,TC,CC		0.0121,0.0,0.0083	,,,,	,,1659/3328,,1881/3550	168103543	1,12017	1886	4123	6009	SO:0001587	stop_gained	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168103543C>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.5641C>T	2.37:g.168103543C>T	ENSP00000386840:p.Arg1881*					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Nonsense_Mutation_p.R1706*|XIRP2_uc010fpq.2_Nonsense_Mutation_p.R1659*|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	p.R1881*	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	5659	+			1706					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Nonsense_Mutation	SNP	ENST00000409195.1	37	c.5641C>T	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	41	8.796069	0.98956	0.0	1.21E-4	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	.	.	.	5.46	2.5	0.30297	.	0.915951	0.09402	N	0.806985	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	0.27	13.9003	0.63799	0.5654:0.4346:0.0:0.0	.	.	.	.	X	1881;1881;1659	.	ENSP00000295237:R1881X	R	+	1	2	XIRP2	167811789	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.642000	0.24735	0.288000	0.22398	0.650000	0.86243	CGA		0.378	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381	
TTN	7273	broad.mit.edu	37	2	179431526	179431526	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr2:179431526G>A	ENST00000591111.1	-	276	74634	c.74410C>T	c.(74410-74412)Cgt>Tgt	p.R24804C	TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R23877C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R17380C|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R17572C|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R17505C|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R26445C|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24804	Fibronectin type-III 80. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTCTTAGACGCAAATCTGTA	0.408																																						uc010zfg.1																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(71629-71631)CGT>TGT		titin isoform N2-A							73.0	73.0	73.0					2																	179431526		1858	4107	5965	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179431526G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.74410C>T	2.37:g.179431526G>A	ENSP00000465570:p.Arg24804Cys					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R17572C|TTN_uc010zfi.1_Missense_Mutation_p.R17505C|TTN_uc010zfj.1_Missense_Mutation_p.R17380C	p.R23877C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	71853	-			24804					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.71629C>T		.	.	.	.	.	.	.	.	.	.	G	11.45	1.641391	0.29157	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	5.75	5.75	0.90469	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76702	0.4024	M	0.80847	2.515	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.79305	-0.1858	9	0.87932	D	0	.	14.0039	0.64451	0.0:0.0:0.7344:0.2656	.	17380;17505;17572;24804	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	23877;17380;17572;17505;17378	ENSP00000343764:R23877C;ENSP00000434586:R17380C;ENSP00000340554:R17572C;ENSP00000352154:R17505C	ENSP00000340554:R17572C	R	-	1	0	TTN	179139772	1.000000	0.71417	0.991000	0.47740	0.942000	0.58702	3.966000	0.56795	2.706000	0.92434	0.561000	0.74099	CGT		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
ANGPT4	51378	broad.mit.edu	37	20	870858	870858	+	Nonsense_Mutation	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr20:870858G>A	ENST00000381922.3	-	2	565	c.463C>T	c.(463-465)Cag>Tag	p.Q155*	ANGPT4_ENST00000546022.1_Nonsense_Mutation_p.Q155*	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	155					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						TCTGTTACCTGAGCCTCCATG	0.607																																					Pancreas(181;481 2077 3259 31286 49856)	uc002wei.2																			0				ovary(2)	2						c.(463-465)CAG>TAG		angiopoietin 4 precursor							93.0	79.0	84.0					20																	870858		2203	4300	6503	SO:0001587	stop_gained	51378				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr20:870858G>A	AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"""Fibrinogen C domain containing"""	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.463C>T	20.37:g.870858G>A	ENSP00000371347:p.Gln155*					ANGPT4_uc010zpn.1_Nonsense_Mutation_p.Q149*	p.Q155*	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN			2	566	-			155			Potential.		B4E3J9|Q5TFF4|Q9H4Z4	Nonsense_Mutation	SNP	ENST00000381922.3	37	c.463C>T	CCDS13009.1	.	.	.	.	.	.	.	.	.	.	g	32	5.139167	0.94560	.	.	ENSG00000101280	ENST00000381922;ENST00000546022	.	.	.	4.38	4.38	0.52667	.	0.579198	0.14097	N	0.341628	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	14.494	0.67670	0.0:0.0:1.0:0.0	.	.	.	.	X	155	.	ENSP00000371347:Q155X	Q	-	1	0	ANGPT4	818858	1.000000	0.71417	0.996000	0.52242	0.681000	0.39784	3.442000	0.52900	2.257000	0.74773	0.450000	0.29827	CAG		0.607	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077493.1	NM_015985	
SIRPA	140885	broad.mit.edu	37	20	1915375	1915375	+	Missense_Mutation	SNP	A	A	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr20:1915375A>T	ENST00000358771.4	+	7	1393	c.1241A>T	c.(1240-1242)gAg>gTg	p.E414V	SIRPA_ENST00000356025.3_Missense_Mutation_p.E414V|SIRPA_ENST00000400068.3_Missense_Mutation_p.E414V	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	414					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		CATGAGCCCGAGAAGAATGCC	0.448																																					GBM(155;1668 1920 5945 42733 48121)	uc002wfq.2																			0				ovary(1)	1						c.(1240-1242)GAG>GTG		signal-regulatory protein alpha precursor							161.0	139.0	146.0					20																	1915375		2203	4300	6503	SO:0001583	missense	140885				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	g.chr20:1915375A>T	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	9662	protein-coding gene	gene with protein product		602461	"""protein tyrosine phosphatase, non-receptor type substrate 1"""	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.1241A>T	20.37:g.1915375A>T	ENSP00000351621:p.Glu414Val					SIRPA_uc010zps.1_Missense_Mutation_p.E394V|SIRPA_uc002wfr.2_Missense_Mutation_p.E414V|SIRPA_uc002wfs.2_Missense_Mutation_p.E414V|SIRPA_uc002wft.2_Missense_Mutation_p.E414V	p.E414V	NM_001040022	NP_001035111	P78324	SHPS1_HUMAN		Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)	8	1601	+			414			Cytoplasmic (Potential).		A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Missense_Mutation	SNP	ENST00000358771.4	37	c.1241A>T	CCDS13022.1	.	.	.	.	.	.	.	.	.	.	A	19.42	3.824687	0.71143	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.26810	1.71;1.71;1.71	4.43	4.43	0.53597	.	0.144057	0.31834	N	0.006984	T	0.36880	0.0983	L	0.32530	0.975	0.35912	D	0.831186	D;D;D	0.89917	0.973;1.0;0.993	P;D;P	0.87578	0.544;0.998;0.722	T	0.45160	-0.9280	10	0.56958	D	0.05	.	10.2443	0.43332	1.0:0.0:0.0:0.0	.	394;414;414	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	V	414	ENSP00000382941:E414V;ENSP00000348307:E414V;ENSP00000351621:E414V	ENSP00000348307:E414V	E	+	2	0	SIRPA	1863375	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	5.039000	0.64185	1.988000	0.58038	0.459000	0.35465	GAG		0.448	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792	
PTPRT	11122	broad.mit.edu	37	20	41385120	41385120	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr20:41385120C>T	ENST00000373187.1	-	6	840	c.841G>A	c.(841-843)Gcg>Acg	p.A281T	PTPRT_ENST00000373201.1_Missense_Mutation_p.A281T|PTPRT_ENST00000373198.4_Missense_Mutation_p.A281T|PTPRT_ENST00000373190.1_Missense_Mutation_p.A281T|PTPRT_ENST00000373184.1_Missense_Mutation_p.A281T|PTPRT_ENST00000373193.3_Missense_Mutation_p.A281T|PTPRT_ENST00000356100.2_Missense_Mutation_p.A281T			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	281	Ig-like C2-type.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ATCAGCTCCGCGTAGTTGGAC	0.567																																						uc002xkg.2																			0				skin(8)|ovary(7)|lung(5)	20						c.(841-843)GCG>ACG		protein tyrosine phosphatase, receptor type, T							58.0	58.0	58.0					20																	41385120		2147	4249	6396	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:41385120C>T	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.841G>A	20.37:g.41385120C>T	ENSP00000362283:p.Ala281Thr					PTPRT_uc010ggj.2_Missense_Mutation_p.A281T	p.A281T	NM_007050	NP_008981	O14522	PTPRT_HUMAN			6	1025	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	281			Extracellular (Potential).|Ig-like C2-type.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.841G>A	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.715555	0.89112	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38;1.38;1.38	5.75	5.75	0.90469	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.058072	0.64402	D	0.000002	T	0.61085	0.2319	M	0.67397	2.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72075	0.976;0.947	T	0.62048	-0.6936	10	0.87932	D	0	.	19.5368	0.95256	0.0:1.0:0.0:0.0	.	281;281	O14522-1;O14522	.;PTPRT_HUMAN	T	281	ENSP00000362286:A281T;ENSP00000362283:A281T;ENSP00000362289:A281T;ENSP00000348408:A281T;ENSP00000362294:A281T;ENSP00000362280:A281T;ENSP00000362297:A281T	ENSP00000348408:A281T	A	-	1	0	PTPRT	40818534	1.000000	0.71417	0.397000	0.26308	0.568000	0.35870	7.487000	0.81328	2.720000	0.93068	0.655000	0.94253	GCG		0.567	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1		
TRIM71	131405	broad.mit.edu	37	3	32932739	32932739	+	Silent	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr3:32932739G>A	ENST00000383763.5	+	4	2106	c.2043G>A	c.(2041-2043)acG>acA	p.T681T		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	681					fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|miRNA metabolic process (GO:0010586)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|positive regulation of gene silencing by miRNA (GO:2000637)|protein autoubiquitination (GO:0051865)|regulation of gene silencing by miRNA (GO:0060964)|regulation of neural precursor cell proliferation (GO:2000177)|stem cell proliferation (GO:0072089)	cytoplasmic mRNA processing body (GO:0000932)	ligase activity (GO:0016874)|miRNA binding (GO:0035198)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGATCTTCACGTTCGAGGGCC	0.582																																						uc003cff.2																			0				ovary(2)|large_intestine(1)	3						c.(2041-2043)ACG>ACA		tripartite motif-containing 71							55.0	61.0	59.0					3																	32932739		2117	4234	6351	SO:0001819	synonymous_variant	131405				multicellular organismal development	cytoplasm	zinc ion binding	g.chr3:32932739G>A		CCDS43060.1	3p22.3	2014-02-17	2012-02-29		ENSG00000206557	ENSG00000206557		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	32669	protein-coding gene	gene with protein product			"""tripartite motif-containing 71"", ""tripartite motif containing 71"""				Standard	NM_001039111		Approved	LIN41, LIN-41	uc003cff.3	Q2Q1W2	OTTHUMG00000155778	ENST00000383763.5:c.2043G>A	3.37:g.32932739G>A							p.T681T	NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN			4	2106	+			681			NHL 2.			Silent	SNP	ENST00000383763.5	37	c.2043G>A	CCDS43060.1																																																																																				0.582	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341565.3	NM_001039111	
GMPPB	29925	broad.mit.edu	37	3	49756785	49756785	+	3'UTR	SNP	A	A	G	rs185704507	byFrequency	TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr3:49756785A>G	ENST00000480687.1	-	0	3599				RNF123_ENST00000327697.6_Intron|AMIGO3_ENST00000535833.1_Silent_p.C38C|RNF123_ENST00000433785.1_Intron|AMIGO3_ENST00000320431.7_Silent_p.C38C|RNF123_ENST00000497099.1_Intron			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B						cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|mannose-1-phosphate guanylyltransferase activity (GO:0004475)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CAGCGCAGATACATTTGTAGG	0.647											OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A|||	3	0.000599042	0.0023	0.0	5008	,	,		17556	0.0		0.0	False		,,,				2504	0.0					uc003cxj.2																			0				pancreas(1)	1						c.(112-114)TGT>TGC		adhesion molecule with Ig-like domain 3							57.0	64.0	61.0					3																	49756785		2203	4300	6503	SO:0001624	3_prime_UTR_variant	386724				heterophilic cell-cell adhesion	integral to membrane		g.chr3:49756785A>G	AF135421	CCDS2802.1, CCDS2803.1	3p21.31	2008-02-05			ENSG00000173540	ENSG00000173540	2.7.7.22		22932	protein-coding gene	gene with protein product		615320					Standard	NM_013334		Approved	KIAA1851	uc003cxl.1	Q9Y5P6	OTTHUMG00000158151	ENST00000480687.1:c.*2400T>C	3.37:g.49756785A>G			OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	964	RNF123_uc003cxh.2_Intron|RNF123_uc003cxi.2_Intron	p.C38C	NM_198722	NP_942015	Q86WK7	AMGO3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	1	454	-			38			Extracellular (Potential).|LRRNT.		A8K6N5|Q9H7U3	Silent	SNP	ENST00000480687.1	37	c.114T>C	CCDS2803.1																																																																																				0.647	GMPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350291.1	NM_013334	
HTR1F	3355	broad.mit.edu	37	3	88040099	88040099	+	Missense_Mutation	SNP	T	T	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr3:88040099T>A	ENST00000319595.4	+	1	254	c.200T>A	c.(199-201)gTc>gAc	p.V67D		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	67					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Ketamine(DB01221)|Methysergide(DB00247)|Mianserin(DB06148)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	TCCCTTGCAGTCACAGATTTT	0.463																																						uc003dqr.2																			0				ovary(3)	3						c.(199-201)GTC>GAC		5-hydroxytryptamine (serotonin) receptor 1F	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)						119.0	113.0	115.0					3																	88040099		2203	4300	6503	SO:0001583	missense	3355				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity	g.chr3:88040099T>A	L05597	CCDS2920.1	3p12	2012-08-08	2012-02-03		ENSG00000179097	ENSG00000179097		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5292	protein-coding gene	gene with protein product		182134	"""5-hydroxytryptamine (serotonin) receptor 1F"""			8384716, 8380639	Standard	NM_000866		Approved	HTR1EL, 5-HT1F	uc003dqr.2	P30939	OTTHUMG00000159008	ENST00000319595.4:c.200T>A	3.37:g.88040099T>A	ENSP00000322924:p.Val67Asp						p.V67D	NM_000866	NP_000857	P30939	5HT1F_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	2	358	+	all_cancers(8;0.147)	Lung NSC(201;0.0283)	67			Helical; Name=2; (By similarity).			Missense_Mutation	SNP	ENST00000319595.4	37	c.200T>A	CCDS2920.1	.	.	.	.	.	.	.	.	.	.	T	19.00	3.741698	0.69304	.	.	ENSG00000179097	ENST00000319595	T	0.44083	0.93	5.31	5.31	0.75309	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.76011	0.3928	H	0.97291	3.975	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84516	0.0625	10	0.87932	D	0	.	13.2197	0.59881	0.0:0.0:0.0:1.0	.	67	P30939	5HT1F_HUMAN	D	67	ENSP00000322924:V67D	ENSP00000322924:V67D	V	+	2	0	HTR1F	88122789	1.000000	0.71417	0.998000	0.56505	0.851000	0.48451	6.242000	0.72376	2.019000	0.59389	0.477000	0.44152	GTC		0.463	HTR1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352890.1	NM_000866	
NXPE3	91775	broad.mit.edu	37	3	101520152	101520152	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr3:101520152G>A	ENST00000491511.2	+	5	1123	c.167G>A	c.(166-168)gGa>gAa	p.G56E	NXPE3_ENST00000477909.1_Missense_Mutation_p.G56E|NXPE3_ENST00000422132.1_Missense_Mutation_p.G56E|NXPE3_ENST00000273347.5_Missense_Mutation_p.G56E	NM_001134456.1	NP_001127928.1	Q969Y0	NXPE3_HUMAN	neurexophilin and PC-esterase domain family, member 3	56						extracellular region (GO:0005576)											CAGGTGACAGGAATTAGCCGA	0.522																																						uc003dvn.2																			0				ovary(1)|pancreas(1)|skin(1)	3						c.(166-168)GGA>GAA		hypothetical protein LOC91775 precursor							135.0	131.0	132.0					3																	101520152		2203	4300	6503	SO:0001583	missense	91775					extracellular region		g.chr3:101520152G>A	AK054664	CCDS2945.1	3q12.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000144815	ENSG00000144815			28238	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member C"""	FAM55C		12975309	Standard	NM_001134456		Approved	MGC15606	uc003dvn.3	Q969Y0	OTTHUMG00000159179	ENST00000491511.2:c.167G>A	3.37:g.101520152G>A	ENSP00000417485:p.Gly56Glu					FAM55C_uc010hpn.2_Missense_Mutation_p.G56E	p.G56E	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN			5	804	+			56					A8K0X4|D3DN53|Q7Z2S8	Missense_Mutation	SNP	ENST00000491511.2	37	c.167G>A	CCDS2945.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.568189	0.28003	.	.	ENSG00000144815	ENST00000273347;ENST00000491511;ENST00000477909;ENST00000422132	T;T;T;T	0.10573	2.86;2.86;2.86;2.86	5.67	4.79	0.61399	.	0.619109	0.17311	N	0.178870	T	0.06142	0.0159	N	0.24115	0.695	0.09310	N	1	B	0.15473	0.013	B	0.18561	0.022	T	0.42189	-0.9466	10	0.02654	T	1	-1.274	7.7355	0.28812	0.1034:0.0:0.7359:0.1607	.	56	Q969Y0	FA55C_HUMAN	E	56	ENSP00000273347:G56E;ENSP00000417485:G56E;ENSP00000418369:G56E;ENSP00000396421:G56E	ENSP00000273347:G56E	G	+	2	0	FAM55C	103002842	0.530000	0.26330	0.115000	0.21578	0.955000	0.61496	1.925000	0.40074	1.499000	0.48617	0.655000	0.94253	GGA		0.522	NXPE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353711.2	NM_145037	
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		899	Substitution - Missense(899)	p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(1633-1635)GAG>AAG		phosphoinositide-3-kinase, catalytic, alpha							61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936091G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E545K	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1790	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		545		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1633G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
GABRB1	2560	broad.mit.edu	37	4	47322182	47322182	+	Missense_Mutation	SNP	G	G	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr4:47322182G>T	ENST00000295454.3	+	5	792	c.500G>T	c.(499-501)aGa>aTa	p.R167I	GABRB1_ENST00000538619.1_Missense_Mutation_p.R97I	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	167					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GATCTTCGAAGATATCCATTG	0.418																																						uc003gxh.2																			0				ovary(2)	2						c.(499-501)AGA>ATA		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						120.0	107.0	111.0					4																	47322182		2203	4300	6503	SO:0001583	missense	2560				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:47322182G>T		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4081	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 1"""	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.500G>T	4.37:g.47322182G>T	ENSP00000295454:p.Arg167Ile					GABRB1_uc011bze.1_Missense_Mutation_p.R97I	p.R167I	NM_000812	NP_000803	P18505	GBRB1_HUMAN			5	874	+			167			Extracellular (Probable).		B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	ENST00000295454.3	37	c.500G>T	CCDS3474.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.016566	0.93404	.	.	ENSG00000163288	ENST00000295454;ENST00000538619	T;T	0.77750	-1.12;-1.12	5.19	5.19	0.71726	Neurotransmitter-gated ion-channel ligand-binding (3);Neurotransmitter-gated ion-channel, conserved site (1);	0.345212	0.27016	N	0.021353	D	0.87581	0.6213	M	0.73962	2.25	0.80722	D	1	D;D	0.69078	0.99;0.997	D;D	0.83275	0.936;0.996	D	0.88047	0.2785	10	0.59425	D	0.04	-19.1509	16.2533	0.82498	0.0:0.0:1.0:0.0	.	97;167	F5GXV5;P18505	.;GBRB1_HUMAN	I	167;97	ENSP00000295454:R167I;ENSP00000440330:R97I	ENSP00000295454:R167I	R	+	2	0	GABRB1	47016939	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.151000	0.94674	2.697000	0.92050	0.585000	0.79938	AGA		0.418	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1		
HPSE	10855	broad.mit.edu	37	4	84216623	84216623	+	Missense_Mutation	SNP	C	C	G			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr4:84216623C>G	ENST00000405413.2	-	13	1642	c.1506G>C	c.(1504-1506)atG>atC	p.M502I	HPSE_ENST00000512196.1_Missense_Mutation_p.M428I|HPSE_ENST00000311412.5_Missense_Mutation_p.M502I|HPSE_ENST00000513463.1_Missense_Mutation_p.M444I	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	502					carbohydrate metabolic process (GO:0005975)|cell-matrix adhesion (GO:0007160)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan catabolic process (GO:0030200)|positive regulation of blood coagulation (GO:0030194)|positive regulation of hair follicle development (GO:0051798)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation vascular endothelial growth factor production (GO:0010575)|proteoglycan metabolic process (GO:0006029)|regulation of hair follicle development (GO:0051797)|small molecule metabolic process (GO:0044281)|vascular wound healing (GO:0061042)	extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)	beta-glucuronidase activity (GO:0004566)|heparanase activity (GO:0030305)|protein dimerization activity (GO:0046983)|syndecan binding (GO:0045545)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Dalteparin(DB06779)|Heparin(DB01109)	GATCATCCACCATCTTTAGAG	0.443																																						uc003hoj.3																			0				ovary(1)	1						c.(1504-1506)ATG>ATC		heparanase precursor	Heparin(DB01109)						88.0	88.0	88.0					4																	84216623		2203	4300	6503	SO:0001583	missense	10855				carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding	g.chr4:84216623C>G	AF144325	CCDS3602.1, CCDS54774.1, CCDS56337.1	4q21.3	2008-02-05			ENSG00000173083	ENSG00000173083			5164	protein-coding gene	gene with protein product		604724				10395325, 10395326	Standard	NM_006665		Approved	HPA, HSE1, HPSE1	uc003hoj.4	Q9Y251	OTTHUMG00000130425	ENST00000405413.2:c.1506G>C	4.37:g.84216623C>G	ENSP00000384262:p.Met502Ile					uc003hoi.2_5'Flank|HPSE_uc010ika.2_Missense_Mutation_p.M444I|HPSE_uc011ccq.1_RNA|HPSE_uc011ccr.1_RNA|HPSE_uc011ccs.1_Missense_Mutation_p.M245I|HPSE_uc011cct.1_Missense_Mutation_p.M428I|HPSE_uc003hok.3_Missense_Mutation_p.M502I	p.M502I	NM_001098540	NP_001092010	Q9Y251	HPSE_HUMAN		COAD - Colon adenocarcinoma(81;0.141)	12	1605	-		Hepatocellular(203;0.114)	502					A9JIG7|C7F7I3|C7F7I4|E9PCA9|E9PGR1|Q53GE5|Q9UL39	Missense_Mutation	SNP	ENST00000405413.2	37	c.1506G>C	CCDS3602.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.071815	0.36566	.	.	ENSG00000173083	ENST00000311412;ENST00000405413;ENST00000512196;ENST00000513463	T;T;T;T	0.47528	0.84;0.84;0.84;0.88	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.52125	0.1715	M	0.72576	2.205	0.80722	D	1	B;B;B;B	0.22746	0.025;0.043;0.072;0.074	B;B;B;B	0.24848	0.009;0.025;0.056;0.025	T	0.50955	-0.8766	10	0.51188	T	0.08	-34.4617	18.0903	0.89472	0.0:1.0:0.0:0.0	.	428;444;444;502	E9PCA9;A9JIG7;E9PGR1;Q9Y251	.;.;.;HPSE_HUMAN	I	502;502;428;444	ENSP00000308107:M502I;ENSP00000384262:M502I;ENSP00000423265:M428I;ENSP00000421365:M444I	ENSP00000308107:M502I	M	-	3	0	HPSE	84435647	1.000000	0.71417	1.000000	0.80357	0.274000	0.26718	3.477000	0.53151	2.809000	0.96659	0.467000	0.42956	ATG		0.443	HPSE-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252812.2	NM_006665	
LRIT3	345193	broad.mit.edu	37	4	110791269	110791269	+	Missense_Mutation	SNP	C	C	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr4:110791269C>A	ENST00000594814.1	+	4	1364	c.1364C>A	c.(1363-1365)gCa>gAa	p.A455E	LRIT3_ENST00000327908.3_Missense_Mutation_p.A272E|LRIT3_ENST00000379920.3_Missense_Mutation_p.A410E|LRIT3_ENST00000409621.2_Missense_Mutation_p.A272E	NM_198506.3	NP_940908.3	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	455					regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		TTAAAGGTGGCAAAGAATGGA	0.458																																						uc003hzx.3																			0					0						c.(1228-1230)GCA>GAA		leucine-rich repeat, immunoglobulin-like and							69.0	71.0	70.0					4																	110791269		2203	4300	6503	SO:0001583	missense	345193					integral to membrane		g.chr4:110791269C>A	AK126648	CCDS3688.2, CCDS3688.3	4q25	2014-01-28	2007-06-19		ENSG00000183423	ENSG00000183423		"""Immunoglobulin superfamily / I-set domain containing"""	24783	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 4"""	615004					Standard	NM_198506		Approved	FLJ44691, FIGLER4, CSNB1F	uc031sgv.1	Q3SXY7	OTTHUMG00000132043	ENST00000594814.1:c.1364C>A	4.37:g.110791269C>A	ENSP00000469759:p.Ala455Glu					LRIT3_uc003hzw.3_Missense_Mutation_p.A272E	p.A410E	NM_198506	NP_940908	Q3SXY7	LRIT3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0011)	3	1422	+			410					C9J1C2|Q6ZTG1	Missense_Mutation	SNP	ENST00000594814.1	37	c.1229C>A	CCDS3688.3	.	.	.	.	.	.	.	.	.	.	C	0	-2.709603	0.00094	.	.	ENSG00000183423	ENST00000327908;ENST00000379920;ENST00000409621	T;T;T	0.56444	0.46;0.63;0.46	5.06	2.48	0.30137	.	0.164007	0.28977	N	0.013536	T	0.15696	0.0378	N	0.01109	-1.01	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.33471	-0.9867	10	0.02654	T	1	.	5.3925	0.16251	0.6349:0.1326:0.0:0.2324	.	410;272	Q3SXY7;Q3SXY7-2	LRIT3_HUMAN;.	E	272;410;272	ENSP00000328222:A272E;ENSP00000369252:A410E;ENSP00000386734:A272E	ENSP00000328222:A272E	A	+	2	0	LRIT3	111010718	0.366000	0.25014	0.007000	0.13788	0.002000	0.02628	2.122000	0.41987	0.753000	0.32945	-0.274000	0.10170	GCA		0.458	LRIT3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335270.2	NM_198506	
MYOZ2	51778	broad.mit.edu	37	4	120072132	120072132	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr4:120072132G>A	ENST00000307128.5	+	3	395	c.182G>A	c.(181-183)cGt>cAt	p.R61H		NM_016599.4	NP_057683.1			myozenin 2											endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						TTTAAGATGCGTCAAAGAAGA	0.398																																						uc003icp.3																			0					0						c.(181-183)CGT>CAT		myozenin 2							134.0	125.0	128.0					4																	120072132		2203	4300	6503	SO:0001583	missense	51778						protein phosphatase 2B binding	g.chr4:120072132G>A	AF249873	CCDS3711.1	4q26-q27	2014-09-17	2002-01-07	2002-01-11	ENSG00000172399	ENSG00000172399			1330	protein-coding gene	gene with protein product		605602	"""chromosome 4 open reading frame 5"""	C4orf5		8619474, 9110174	Standard	NM_016599		Approved	CS-1	uc003icp.4	Q9NPC6	OTTHUMG00000132968	ENST00000307128.5:c.182G>A	4.37:g.120072132G>A	ENSP00000306997:p.Arg61His						p.R61H	NM_016599	NP_057683	Q9NPC6	MYOZ2_HUMAN			3	395	+			61						Missense_Mutation	SNP	ENST00000307128.5	37	c.182G>A	CCDS3711.1	.	.	.	.	.	.	.	.	.	.	G	33	5.258074	0.95368	.	.	ENSG00000172399	ENST00000307128	D	0.82526	-1.62	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.92306	0.7559	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92940	0.6371	10	0.87932	D	0	-11.1782	18.7213	0.91694	0.0:0.0:1.0:0.0	.	61	Q9NPC6	MYOZ2_HUMAN	H	61	ENSP00000306997:R61H	ENSP00000306997:R61H	R	+	2	0	MYOZ2	120291580	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	8.765000	0.91724	2.715000	0.92844	0.650000	0.86243	CGT		0.398	MYOZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256526.2		
FSTL5	56884	broad.mit.edu	37	4	162577565	162577565	+	Missense_Mutation	SNP	C	C	G			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr4:162577565C>G	ENST00000306100.5	-	7	1245	c.809G>C	c.(808-810)tGt>tCt	p.C270S	FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000536695.1_Missense_Mutation_p.C269S|FSTL5_ENST00000427802.2_Missense_Mutation_p.C269S|FSTL5_ENST00000379164.4_Missense_Mutation_p.C269S	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	270	Ig-like 1.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TTGAATGGCACAGCTCAGAAC	0.393																																						uc003iqh.2																			0				ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8						c.(808-810)TGT>TCT		follistatin-like 5 isoform a							101.0	94.0	96.0					4																	162577565		2203	4300	6503	SO:0001583	missense	56884					extracellular region	calcium ion binding	g.chr4:162577565C>G	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.809G>C	4.37:g.162577565C>G	ENSP00000305334:p.Cys270Ser					FSTL5_uc003iqi.2_Missense_Mutation_p.C269S|FSTL5_uc010iqv.2_Missense_Mutation_p.C269S	p.C270S	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	7	1245	-	all_hematologic(180;0.24)		270			Ig-like 1.		E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	c.809G>C	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.071282	0.76301	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	D;D;D;D	0.94537	-3.45;-3.45;-3.45;-3.45	5.38	5.38	0.77491	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.98611	0.9535	H	0.98802	4.335	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.999;1.0	D	0.99585	1.0974	10	0.87932	D	0	.	18.4926	0.90853	0.0:1.0:0.0:0.0	.	269;269;270	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	S	270;269;269;269	ENSP00000305334:C270S;ENSP00000368462:C269S;ENSP00000389270:C269S;ENSP00000440409:C269S	ENSP00000305334:C270S	C	-	2	0	FSTL5	162797015	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.421000	0.80204	2.678000	0.91216	0.650000	0.86243	TGT		0.393	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116	
OSMR	9180	broad.mit.edu	37	5	38904563	38904563	+	Missense_Mutation	SNP	T	T	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr5:38904563T>A	ENST00000274276.3	+	9	1645	c.1243T>A	c.(1243-1245)Tgg>Agg	p.W415R		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	415	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					CTTCTGGAAATGGAGTGAATG	0.488																																						uc003jln.1																			0				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(1243-1245)TGG>AGG		oncostatin M receptor precursor							132.0	114.0	120.0					5																	38904563		2203	4300	6503	SO:0001583	missense	9180				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity	g.chr5:38904563T>A	U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"""Fibronectin type III domain containing"""	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.1243T>A	5.37:g.38904563T>A	ENSP00000274276:p.Trp415Arg						p.W415R	NM_003999	NP_003990	Q99650	OSMR_HUMAN			9	1610	+	all_lung(31;0.000365)		415			WSXWS motif.|Fibronectin type-III 1.|Extracellular (Potential).		Q6P4E8|Q96QJ6	Missense_Mutation	SNP	ENST00000274276.3	37	c.1243T>A	CCDS3928.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.044049	0.75732	.	.	ENSG00000145623	ENST00000274276;ENST00000513831	T;T	0.53640	0.61;0.63	5.7	5.7	0.88788	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.058286	0.64402	D	0.000001	T	0.69187	0.3083	M	0.81802	2.56	0.54753	D	0.999987	D	0.89917	1.0	D	0.87578	0.998	T	0.73767	-0.3879	10	0.87932	D	0	.	12.3715	0.55258	0.0:0.0:0.0:1.0	.	415	Q99650	OSMR_HUMAN	R	415;22	ENSP00000274276:W415R;ENSP00000423913:W22R	ENSP00000274276:W415R	W	+	1	0	OSMR	38940320	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	4.296000	0.59055	2.185000	0.69588	0.528000	0.53228	TGG		0.488	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000207609.2	NM_003999	
COX7C	1350	broad.mit.edu	37	5	85915176	85915176	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr5:85915176C>T	ENST00000509578.1	+	2	182	c.82C>T	c.(82-84)Cca>Tca	p.P28S	COX7C_ENST00000247655.3_Missense_Mutation_p.P28S|COX7C_ENST00000515763.1_Missense_Mutation_p.P28S|COX7C_ENST00000513124.1_3'UTR|MIR3607_ENST00000362392.1_RNA			P15954	COX7C_HUMAN	cytochrome c oxidase subunit VIIc	28					cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)			endometrium(1)|lung(1)	2		all_cancers(142;7e-06)|Lung NSC(167;0.000601)|all_lung(232;0.000693)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;1.56e-40)|Epithelial(54;3.17e-34)|all cancers(79;3.36e-29)		ACAGAATTTGCCATTTTCAGT	0.338																																						uc003kir.2																			0					0						c.(82-84)CCA>TCA		cytochrome c oxidase subunit VIIc precursor							112.0	108.0	109.0					5																	85915176		2203	4300	6503	SO:0001583	missense	1350				respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	cytochrome-c oxidase activity	g.chr5:85915176C>T	BC001005	CCDS4063.1	5q14	2011-07-04			ENSG00000127184	ENSG00000127184	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2292	protein-coding gene	gene with protein product		603774				10072584	Standard	NM_001867		Approved		uc003kir.3	P15954	OTTHUMG00000119049	ENST00000509578.1:c.82C>T	5.37:g.85915176C>T	ENSP00000425759:p.Pro28Ser						p.P28S	NM_001867	NP_001858	P15954	COX7C_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.56e-40)|Epithelial(54;3.17e-34)|all cancers(79;3.36e-29)	2	171	+		all_cancers(142;7e-06)|Lung NSC(167;0.000601)|all_lung(232;0.000693)|Ovarian(174;0.0423)	28			Mitochondrial matrix (By similarity).		Q6NR81	Missense_Mutation	SNP	ENST00000509578.1	37	c.82C>T	CCDS4063.1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.830793	0.71258	.	.	ENSG00000127184	ENST00000247655;ENST00000509578;ENST00000515763	.	.	.	5.6	5.6	0.85130	Cytochrome c oxidase, subunit VIIc domain (2);	0.000000	0.85682	D	0.000000	T	0.79305	0.4423	.	.	.	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.80937	-0.1159	8	0.62326	D	0.03	-13.1853	15.1019	0.72284	0.0:1.0:0.0:0.0	.	28	P15954	COX7C_HUMAN	S	28	.	ENSP00000247655:P28S	P	+	1	0	COX7C	85950932	1.000000	0.71417	1.000000	0.80357	0.591000	0.36615	5.376000	0.66178	2.622000	0.88805	0.655000	0.94253	CCA		0.338	COX7C-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369746.1	NM_001867	
PCDHA12	56137	broad.mit.edu	37	5	140255258	140255258	+	Silent	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr5:140255258G>A	ENST00000398631.2	+	1	201	c.201G>A	c.(199-201)gcG>gcA	p.A67A	PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	67	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGGGTGGCGTCCAAAAGAC	0.632																																					Pancreas(113;759 1672 13322 24104 50104)	uc003lic.2																			0					0						c.(199-201)GCG>GCA		protocadherin alpha 12 isoform 1 precursor							47.0	57.0	54.0					5																	140255258		2199	4274	6473	SO:0001819	synonymous_variant	56137				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140255258G>A	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.201G>A	5.37:g.140255258G>A						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.A67A	p.A67A	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	328	+			67			Cadherin 1.|Extracellular (Potential).		O75278|Q2M1N8	Silent	SNP	ENST00000398631.2	37	c.201G>A	CCDS47285.1																																																																																				0.632	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903	
SH3RF2	153769	broad.mit.edu	37	5	145393533	145393533	+	Missense_Mutation	SNP	T	T	G			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr5:145393533T>G	ENST00000511217.1	+	4	1020	c.968T>G	c.(967-969)aTc>aGc	p.I323S	SH3RF2_ENST00000359120.4_Missense_Mutation_p.I323S			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	323					negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGGTAGAGATCAGCACCCCA	0.567																																						uc003lnt.2																			0				ovary(1)|skin(1)	2						c.(967-969)ATC>AGC		SH3 domain containing ring finger 2							120.0	117.0	118.0					5																	145393533		2203	4300	6503	SO:0001583	missense	153769						ligase activity|protein phosphatase 1 binding|zinc ion binding	g.chr5:145393533T>G	AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26299	protein-coding gene	gene with protein product	"""heart protein phosphatase 1-binding protein"", ""POSH-eliminating RING protein"""	613377	"""protein phosphatase 1, regulatory subunit 39"""	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.968T>G	5.37:g.145393533T>G	ENSP00000424497:p.Ile323Ser					SH3RF2_uc011dbl.1_Missense_Mutation_p.I323S	p.I323S	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		5	1206	+			323					A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Missense_Mutation	SNP	ENST00000511217.1	37	c.968T>G	CCDS4280.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.542299	0.85917	.	.	ENSG00000156463	ENST00000359120;ENST00000511217	T;T	0.08370	3.1;3.1	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.18593	0.0446	L	0.27053	0.805	0.53005	D	0.999966	D	0.76494	0.999	D	0.83275	0.996	T	0.01791	-1.1273	10	0.56958	D	0.05	-32.2409	15.8381	0.78814	0.0:0.0:0.0:1.0	.	323	Q8TEC5	SH3R2_HUMAN	S	323	ENSP00000352028:I323S;ENSP00000424497:I323S	ENSP00000352028:I323S	I	+	2	0	SH3RF2	145373726	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.689000	0.74562	2.202000	0.70862	0.482000	0.46254	ATC		0.567	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372804.1	NM_152550	
ITPR3	3710	broad.mit.edu	37	6	33644615	33644615	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr6:33644615G>A	ENST00000374316.5	+	27	4413	c.3353G>A	c.(3352-3354)cGg>cAg	p.R1118Q	ITPR3_ENST00000605930.1_Missense_Mutation_p.R1118Q			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1118					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	GACCGGCTGCGGACCATGGTG	0.597																																						uc011drk.1																			0				ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						c.(3352-3354)CGG>CAG		inositol 1,4,5-triphosphate receptor, type 3							92.0	79.0	84.0					6																	33644615		2203	4300	6503	SO:0001583	missense	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33644615G>A	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.3353G>A	6.37:g.33644615G>A	ENSP00000363435:p.Arg1118Gln						p.R1118Q	NM_002224	NP_002215	Q14573	ITPR3_HUMAN			26	3572	+			1118			Cytoplasmic (Potential).		Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.3353G>A	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	36	5.930543	0.97116	.	.	ENSG00000096433	ENST00000374316	D	0.93019	-3.15	5.22	5.22	0.72569	.	0.064020	0.64402	D	0.000006	D	0.96738	0.8935	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97223	0.9879	10	0.87932	D	0	-36.9977	18.8137	0.92070	0.0:0.0:1.0:0.0	.	1118	Q14573	ITPR3_HUMAN	Q	1118	ENSP00000363435:R1118Q	ENSP00000363435:R1118Q	R	+	2	0	ITPR3	33752593	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.004000	0.88535	2.435000	0.82474	0.655000	0.94253	CGG		0.597	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224	
KCNK16	83795	broad.mit.edu	37	6	39282798	39282814	+	Frame_Shift_Del	DEL	TGGATATGGGGAAGTCC	TGGATATGGGGAAGTCC	-	rs147542213|rs11756091	byFrequency	TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr6:39282798_39282814delTGGATATGGGGAAGTCC	ENST00000373229.5	-	6	907_923	c.894_910delGGACTTCCCCATATCCA	c.(892-912)caggacttccccatatccaagfs	p.DFPISK299fs	KCNK16_ENST00000373227.4_Frame_Shift_Del_p.DFPISK252fs|KCNK17_ENST00000373231.4_5'Flank|KCNK17_ENST00000453413.2_5'Flank|KCNK16_ENST00000507712.1_Frame_Shift_Del_p.DFPISK187fs|KCNK16_ENST00000425054.2_3'UTR	NM_032115.3	NP_115491.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	299					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						AGTCCTTTCTTGGATATGGGGAAGTCCTGGGGTGTGA	0.59																																						uc003ooq.2																			0				ovary(2)|skin(1)	3						c.(892-912)CAGGACTTCCCCATATCCAAGfs		potassium channel, subfamily K, member 16																																				SO:0001589	frameshift_variant	83795					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr6:39282798_39282814delTGGATATGGGGAAGTCC	AF358909	CCDS4843.1, CCDS47420.1, CCDS47421.1, CCDS47422.1	6p21.2-p21.1	2012-03-07			ENSG00000095981	ENSG00000095981		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	14464	protein-coding gene	gene with protein product		607369				11263999, 16382106	Standard	NM_032115		Approved	K2p16.1, TALK-1, TALK1	uc003ooq.3	Q96T55	OTTHUMG00000014645	ENST00000373229.5:c.894_910delGGACTTCCCCATATCCA	6.37:g.39282798_39282814delTGGATATGGGGAAGTCC	ENSP00000362326:p.Asp299fs					KCNK17_uc003ooo.2_5'Flank|KCNK17_uc003oop.2_5'Flank|KCNK16_uc003oor.3_3'UTR|KCNK16_uc010jwy.2_Frame_Shift_Del_p.Q251fs	p.Q298fs	NM_032115	NP_115491	Q96T55	KCNKG_HUMAN			6	908_924	-			298_304			Cytoplasmic (Potential).		B5TJL9|Q2M2N9|Q5TCF3|Q6X6Z3|Q6X6Z4|Q6X6Z5|Q9H591	Frame_Shift_Del	DEL	ENST00000373229.5	37	c.894_910delGGACTTCCCCATATCCA	CCDS4843.1																																																																																				0.590	KCNK16-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040452.2	NM_032115	
CUL9	23113	broad.mit.edu	37	6	43164484	43164484	+	Missense_Mutation	SNP	C	C	A	rs142672693	byFrequency	TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr6:43164484C>A	ENST00000252050.4	+	11	2771	c.2687C>A	c.(2686-2688)aCg>aAg	p.T896K	CUL9_ENST00000354495.3_Missense_Mutation_p.T786K|CUL9_ENST00000372647.2_Missense_Mutation_p.T896K	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	896					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CTGAGAGACACGTTGTTTAGG	0.517																																						uc003ouk.2																			0				ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						c.(2686-2688)ACG>AAG		p53-associated parkin-like cytoplasmic protein							200.0	169.0	180.0					6																	43164484		2203	4300	6503	SO:0001583	missense	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43164484C>A	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.2687C>A	6.37:g.43164484C>A	ENSP00000252050:p.Thr896Lys					CUL9_uc003oul.2_Missense_Mutation_p.T896K|CUL9_uc010jyk.2_Missense_Mutation_p.T48K	p.T896K	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN			11	2762	+			896					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	c.2687C>A	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.045250	0.75846	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.72942	-0.7;-0.7;-0.59	5.61	4.69	0.59074	Armadillo-type fold (1);	0.319960	0.31834	N	0.006994	T	0.37433	0.1003	N	0.22421	0.69	0.34628	D	0.719268	P;P;P	0.43578	0.811;0.465;0.465	B;B;B	0.39299	0.296;0.069;0.069	T	0.27673	-1.0067	10	0.14656	T	0.56	-24.433	10.9826	0.47504	0.186:0.814:0.0:0.0	.	786;896;896	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	K	896;786;896	ENSP00000252050:T896K;ENSP00000346490:T786K;ENSP00000361730:T896K	ENSP00000252050:T896K	T	+	2	0	CUL9	43272462	0.996000	0.38824	1.000000	0.80357	0.929000	0.56500	2.175000	0.42491	2.656000	0.90262	0.655000	0.94253	ACG		0.517	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089	
ABCC10	89845	broad.mit.edu	37	6	43413522	43413522	+	Silent	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr6:43413522G>A	ENST00000372530.4	+	15	3431	c.3216G>A	c.(3214-3216)ccG>ccA	p.P1072P	ABCC10_ENST00000244533.3_Silent_p.P1044P	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1072	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	TCCTGCTGCCGCCTTTGAGCA	0.662																																						uc003ouy.1																			0				ovary(6)|central_nervous_system(1)	7						c.(3214-3216)CCG>CCA		ATP-binding cassette, sub-family C, member 10							40.0	38.0	39.0					6																	43413522		2203	4299	6502	SO:0001819	synonymous_variant	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43413522G>A	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.3216G>A	6.37:g.43413522G>A						ABCC10_uc003ouz.1_Silent_p.P1044P|ABCC10_uc010jyo.1_Silent_p.P178P	p.P1072P	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		15	3431	+	all_lung(25;0.00536)		1072			ABC transmembrane type-1 2.		Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Silent	SNP	ENST00000372530.4	37	c.3216G>A	CCDS56430.1																																																																																				0.662	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450	
GCM1	8521	broad.mit.edu	37	6	52993580	52993580	+	Silent	SNP	T	T	C			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr6:52993580T>C	ENST00000259803.7	-	6	946	c.735A>G	c.(733-735)ggA>ggG	p.G245G	RP11-506E9.3_ENST00000566420.1_RNA	NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	245					anatomical structure morphogenesis (GO:0009653)|astrocyte fate commitment (GO:0060018)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell differentiation involved in embryonic placenta development (GO:0060706)|positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					CTGTGATTCCTCCCAGACCAT	0.453																																						uc003pbp.2																			0				central_nervous_system(1)	1						c.(733-735)GGA>GGG		glial cells missing homolog a							90.0	84.0	86.0					6																	52993580		2203	4300	6503	SO:0001819	synonymous_variant	8521					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:52993580T>C	D88613	CCDS4950.1	6p21-p12	2008-08-29	2001-11-28	2002-09-27	ENSG00000137270	ENSG00000137270			4197	protein-coding gene	gene with protein product		603715	"""glial cells missing (Drosophila) homolog a"""	GCMA		8962155	Standard	NM_003643		Approved	hGCMa	uc003pbp.3	Q9NP62	OTTHUMG00000014871	ENST00000259803.7:c.735A>G	6.37:g.52993580T>C							p.G245G	NM_003643	NP_003634	Q9NP62	GCM1_HUMAN			6	944	-	Lung NSC(77;0.0755)		245					Q4VAQ7|Q5T0X0|Q99468|Q9P1X3	Silent	SNP	ENST00000259803.7	37	c.735A>G	CCDS4950.1																																																																																				0.453	GCM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040953.1		
LGSN	51557	broad.mit.edu	37	6	63990360	63990360	+	Nonsense_Mutation	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr6:63990360G>A	ENST00000370657.4	-	4	1129	c.1096C>T	c.(1096-1098)Cga>Tga	p.R366*	LGSN_ENST00000370658.5_3'UTR			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	366					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TAACGCTTTCGGCAGCTAACA	0.478																																						uc003peh.2																			0				skin(2)	2						c.(1096-1098)CGA>TGA		lengsin, lens protein with glutamine synthetase	L-Glutamic Acid(DB00142)						134.0	134.0	134.0					6																	63990360		2203	4300	6503	SO:0001587	stop_gained	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:63990360G>A	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"""glutamate-ammonia ligase (glutamine synthetase) domain containing 1"""	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.1096C>T	6.37:g.63990360G>A	ENSP00000359691:p.Arg366*					LGSN_uc003pei.2_3'UTR	p.R366*	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN			4	1130	-			366					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Nonsense_Mutation	SNP	ENST00000370657.4	37	c.1096C>T	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.031718	0.35797	.	.	ENSG00000146166	ENST00000370657	.	.	.	5.77	2.65	0.31530	.	0.103374	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-5.031	15.5526	0.76164	0.0:0.0:0.6316:0.3684	.	.	.	.	X	366	.	ENSP00000359691:R366X	R	-	1	2	LGSN	64048319	1.000000	0.71417	0.886000	0.34754	0.032000	0.12392	2.232000	0.43018	0.763000	0.33175	-0.181000	0.13052	CGA		0.478	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571	
PHF3	23469	broad.mit.edu	37	6	64422167	64422167	+	Silent	SNP	A	A	G			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr6:64422167A>G	ENST00000262043.3	+	16	5023	c.4683A>G	c.(4681-4683)agA>agG	p.R1561R	PHF3_ENST00000393387.1_Silent_p.R1561R			Q92576	PHF3_HUMAN	PHD finger protein 3	1561					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TTAGTCTCAGAGGTAAGCCAC	0.353																																					GBM(135;136 1820 29512 34071 46235)	uc003pep.1																			0				ovary(3)|lung(1)|skin(1)	5						c.(4681-4683)AGA>AGG		PHD finger protein 3							66.0	64.0	65.0					6																	64422167		2202	4297	6499	SO:0001819	synonymous_variant	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64422167A>G	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.4683A>G	6.37:g.64422167A>G						PHF3_uc003pen.2_Silent_p.R1473R|PHF3_uc011dxs.1_Silent_p.R830R	p.R1561R	NM_015153	NP_055968	Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		15	4709	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		1561					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Silent	SNP	ENST00000262043.3	37	c.4683A>G	CCDS4966.1																																																																																				0.353	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2		
SEC63	11231	broad.mit.edu	37	6	108250659	108250659	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr6:108250659G>A	ENST00000369002.4	-	2	363	c.184C>T	c.(184-186)Cgg>Tgg	p.R62W	RNU6-437P_ENST00000459408.1_RNA	NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	62					liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.R62W(1)		endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		TTTAATAACCGTAAACGATAC	0.299																																						uc003psc.3																			1	Substitution - Missense(1)		large_intestine(1)	ovary(1)|skin(1)	2						c.(184-186)CGG>TGG		SEC63-like protein							157.0	158.0	158.0					6																	108250659		2202	4297	6499	SO:0001583	missense	11231				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding	g.chr6:108250659G>A	BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"""Heat shock proteins / DNAJ (HSP40)"""	21082	protein-coding gene	gene with protein product		608648	"""SEC63-like (S. cerevisiae)"""			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.184C>T	6.37:g.108250659G>A	ENSP00000357998:p.Arg62Trp						p.R62W	NM_007214	NP_009145	Q9UGP8	SEC63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)	2	453	-		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)	62			Cytoplasmic (Potential).		O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Missense_Mutation	SNP	ENST00000369002.4	37	c.184C>T	CCDS5061.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.394138	0.62066	.	.	ENSG00000025796	ENST00000369002;ENST00000429168	T;T	0.76448	-1.02;-0.17	5.48	3.64	0.41730	.	0.000000	0.85682	D	0.000000	T	0.67439	0.2893	L	0.34521	1.04	0.53688	D	0.99997	D	0.69078	0.997	P	0.52554	0.702	T	0.71810	-0.4480	10	0.72032	D	0.01	-14.1314	13.3702	0.60709	0.0:0.0:0.5862:0.4138	.	62	Q9UGP8	SEC63_HUMAN	W	62;6	ENSP00000357998:R62W;ENSP00000403144:R6W	ENSP00000357998:R62W	R	-	1	2	SEC63	108357352	1.000000	0.71417	0.999000	0.59377	0.744000	0.42396	2.026000	0.41069	0.631000	0.30412	0.557000	0.71058	CGG		0.299	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041705.4	NM_007214	
SLC22A2	6582	broad.mit.edu	37	6	160663362	160663362	+	Missense_Mutation	SNP	C	C	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr6:160663362C>A	ENST00000366953.3	-	8	1610	c.1352G>T	c.(1351-1353)tGc>tTc	p.C451F	SLC22A2_ENST00000491092.1_5'UTR	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	451		Involved in recognition of organic cations and participates in structural changes that occur during translocation of organic cations. {ECO:0000250}.			body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	ATTGACCAGGCAGACTATCTC	0.438																																						uc003qtf.2																			0				breast(1)|skin(1)	2						c.(1351-1353)TGC>TTC		solute carrier family 22 member 2							198.0	167.0	178.0					6																	160663362		2203	4300	6503	SO:0001583	missense	6582				body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity	g.chr6:160663362C>A	X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499		"""Solute carriers"""	10966	protein-coding gene	gene with protein product		602608				9605850	Standard	NM_003058		Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366953.3:c.1352G>T	6.37:g.160663362C>A	ENSP00000355920:p.Cys451Phe					SLC22A2_uc003qte.1_Missense_Mutation_p.C451F	p.C451F	NM_003058	NP_003049	O15244	S22A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	8	1522	-		Breast(66;0.000776)|Ovarian(120;0.0303)	451			Helical; (Potential).	Involved in recognition of organic cations and participates in structural changes that occur during translocation of organic cations (By similarity).	Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	Missense_Mutation	SNP	ENST00000366953.3	37	c.1352G>T	CCDS5276.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.483316	0.44147	.	.	ENSG00000112499	ENST00000366953	T	0.73258	-0.73	5.23	5.23	0.72850	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.113361	0.64402	D	0.000008	T	0.74160	0.3680	L	0.45352	1.415	0.80722	D	1	D	0.71674	0.998	D	0.75020	0.985	T	0.67082	-0.5760	10	0.25106	T	0.35	.	19.363	0.94448	0.0:1.0:0.0:0.0	.	451	O15244	S22A2_HUMAN	F	451	ENSP00000355920:C451F	ENSP00000355920:C451F	C	-	2	0	SLC22A2	160583352	1.000000	0.71417	0.951000	0.38953	0.854000	0.48673	4.993000	0.63895	2.871000	0.98454	0.655000	0.94253	TGC		0.438	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042943.1	NM_003058	
DGKB	1607	broad.mit.edu	37	7	14733777	14733777	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr7:14733777C>T	ENST00000403951.2	-	9	1053	c.634G>A	c.(634-636)Gga>Aga	p.G212R	DGKB_ENST00000444700.2_Missense_Mutation_p.G205R|DGKB_ENST00000399322.3_Missense_Mutation_p.G212R|DGKB_ENST00000406247.3_Missense_Mutation_p.G212R|DGKB_ENST00000407950.1_Missense_Mutation_p.G205R|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000402815.1_Missense_Mutation_p.G212R|DGKB_ENST00000258767.5_Missense_Mutation_p.G212R			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	212	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						GACACGGTTCCATCATGATCA	0.418																																						uc003ssz.2																			0				lung(5)|ovary(4)|breast(2)|skin(1)	12						c.(634-636)GGA>AGA		diacylglycerol kinase, beta isoform 1	Phosphatidylserine(DB00144)						75.0	71.0	73.0					7																	14733777		1927	4144	6071	SO:0001583	missense	1607				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	g.chr7:14733777C>T	AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.634G>A	7.37:g.14733777C>T	ENSP00000385780:p.Gly212Arg					DGKB_uc011jxt.1_Missense_Mutation_p.G205R|DGKB_uc003sta.2_Missense_Mutation_p.G212R|DGKB_uc011jxu.1_Missense_Mutation_p.G212R|DGKB_uc011jxv.1_Missense_Mutation_p.G212R	p.G212R	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN			8	821	-			212			EF-hand 2.|2 (Potential).		A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP	ENST00000403951.2	37	c.634G>A	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	C	34	5.367077	0.95900	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	D;D;D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	5.72	5.72	0.89469	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.94902	0.8352	H	0.97315	3.98	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.997;0.998	D	0.96198	0.9143	10	0.87932	D	0	.	19.8709	0.96851	0.0:1.0:0.0:0.0	.	212;205;212;212	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	R	212;212;212;212;205;205;212	ENSP00000385780:G212R;ENSP00000382260:G212R;ENSP00000258767:G212R;ENSP00000384909:G212R;ENSP00000385031:G205R;ENSP00000388451:G205R;ENSP00000386066:G212R	ENSP00000258767:G212R	G	-	1	0	DGKB	14700302	1.000000	0.71417	0.910000	0.35882	0.889000	0.51656	7.818000	0.86416	2.698000	0.92095	0.591000	0.81541	GGA		0.418	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080	
TRA2A	29896	broad.mit.edu	37	7	23552560	23552560	+	Missense_Mutation	SNP	G	G	C			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr7:23552560G>C	ENST00000297071.4	-	4	694	c.478C>G	c.(478-480)Cga>Gga	p.R160G	TRA2A_ENST00000392502.4_Missense_Mutation_p.R59G|TRA2A_ENST00000538367.1_Missense_Mutation_p.R59G|TRA2A_ENST00000474586.1_5'UTR	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	160	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splicing, via spliceosome (GO:0000398)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						GCAAATCCTCGAGATCGCCCA	0.378																																					Pancreas(121;2137 2973 46590)	uc003swi.2																			0				ovary(1)	1						c.(478-480)CGA>GGA		transformer-2 alpha							100.0	93.0	95.0					7																	23552560		2203	4300	6503	SO:0001583	missense	29896				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding	g.chr7:23552560G>C	U53209	CCDS5383.1, CCDS64609.1, CCDS75569.1	7p15.3	2014-02-12			ENSG00000164548	ENSG00000164548		"""RNA binding motif (RRM) containing"""	16645	protein-coding gene	gene with protein product		602718				8799144, 9546399	Standard	XM_005249725		Approved	htra-2-alpha, tra2a, AWMS1	uc003swi.3	Q13595	OTTHUMG00000128459	ENST00000297071.4:c.478C>G	7.37:g.23552560G>C	ENSP00000297071:p.Arg160Gly					TRA2A_uc011jzb.1_RNA|TRA2A_uc011jzc.1_Missense_Mutation_p.R59G|TRA2A_uc011jzd.1_Missense_Mutation_p.R59G|TRA2A_uc010kuo.1_RNA	p.R160G	NM_013293	NP_037425	Q13595	TRA2A_HUMAN			4	692	-			160			RRM.		B4DUA9	Missense_Mutation	SNP	ENST00000297071.4	37	c.478C>G	CCDS5383.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.159900	0.57368	.	.	ENSG00000164548	ENST00000297071;ENST00000392502;ENST00000538367	T;T;T	0.77750	-1.12;-1.12;-1.12	5.27	2.28	0.28536	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.112351	0.64402	D	0.000018	D	0.90978	0.7163	H	0.98487	4.245	0.53688	D	0.999974	D	0.89917	1.0	D	0.87578	0.998	D	0.89465	0.3739	10	0.87932	D	0	-3.8414	7.4222	0.27077	0.0836:0.0:0.4038:0.5126	.	160	Q13595	TRA2A_HUMAN	G	160;59;59	ENSP00000297071:R160G;ENSP00000376290:R59G;ENSP00000441116:R59G	ENSP00000297071:R160G	R	-	1	2	TRA2A	23519085	0.952000	0.32445	0.631000	0.29282	0.732000	0.41865	1.297000	0.33400	0.602000	0.29896	0.306000	0.20318	CGA		0.378	TRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250257.1	NM_013293	
GHRHR	2692	broad.mit.edu	37	7	31009513	31009513	+	Silent	SNP	C	C	A	rs549665869		TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr7:31009513C>A	ENST00000326139.2	+	4	346	c.300C>A	c.(298-300)ggC>ggA	p.G100G	GHRHR_ENST00000409904.3_Silent_p.G36G|GHRHR_ENST00000409316.1_5'UTR	NM_000823.3	NP_000814.2	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	100					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP-mediated signaling (GO:0019933)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|determination of adult lifespan (GO:0008340)|growth hormone secretion (GO:0030252)|hormone metabolic process (GO:0042445)|lactation (GO:0007595)|multicellular organismal reproductive process (GO:0048609)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of intracellular steroid hormone receptor signaling pathway (GO:0033143)|regulation of protein metabolic process (GO:0051246)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|somatotropin secreting cell development (GO:0060133)|water homeostasis (GO:0030104)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nuclear matrix (GO:0016363)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	G-protein coupled receptor activity (GO:0004930)|growth factor binding (GO:0019838)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)|Tesamorelin(DB08869)	CTATCACTGGCTGGTCTGAGC	0.602																																						uc003tbx.2																			0				ovary(2)|lung(1)|breast(1)|large_intestine(1)	5						c.(298-300)GGC>GGA		growth hormone releasing hormone receptor	Sermorelin(DB00010)						174.0	140.0	151.0					7																	31009513		2203	4300	6503	SO:0001819	synonymous_variant	2692				activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding	g.chr7:31009513C>A		CCDS5432.1	7p14	2012-08-10			ENSG00000106128	ENSG00000106128		"""GPCR / Class B : Glucagon receptors"""	4266	protein-coding gene	gene with protein product		139191				7680413, 7514564	Standard	NM_000823		Approved		uc003tbx.3	Q02643	OTTHUMG00000152801	ENST00000326139.2:c.300C>A	7.37:g.31009513C>A						GHRHR_uc003tbw.1_Silent_p.G100G|GHRHR_uc003tby.2_Silent_p.G36G|GHRHR_uc003tbz.2_Translation_Start_Site	p.G100G	NM_000823	NP_000814	Q02643	GHRHR_HUMAN			4	348	+			100			Extracellular (Potential).		Q99863	Silent	SNP	ENST00000326139.2	37	c.300C>A	CCDS5432.1																																																																																				0.602	GHRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327967.2		
EGFR	1956	broad.mit.edu	37	7	55221822	55221822	+	Missense_Mutation	SNP	C	C	A	rs149840192		TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr7:55221822C>A	ENST00000275493.2	+	7	1043	c.866C>A	c.(865-867)gCc>gAc	p.A289D	EGFR_ENST00000454757.2_Missense_Mutation_p.A236D|EGFR_ENST00000442591.1_Missense_Mutation_p.A289D|EGFR_ENST00000455089.1_Missense_Mutation_p.A244D|EGFR_ENST00000344576.2_Missense_Mutation_p.A289D|EGFR_ENST00000420316.2_Missense_Mutation_p.A289D|EGFR_ENST00000342916.3_Missense_Mutation_p.A289D	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.A289V(20)|p.A289D(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		23	Substitution - Missense(23)	p.A289V(20)|p.V30_R297>G(5)|p.A289D(3)|p.A289T(3)	central_nervous_system(23)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(865-867)GCC>GAC		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						178.0	142.0	154.0					7																	55221822		2203	4300	6503	SO:0001583	missense	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221822C>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.866C>A	7.37:g.55221822C>A	ENSP00000275493:p.Ala289Asp	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.2_Missense_Mutation_p.A289D|EGFR_uc003tqi.2_Missense_Mutation_p.A289D|EGFR_uc003tqj.2_Missense_Mutation_p.A289D|EGFR_uc010kzg.1_Missense_Mutation_p.A244D|EGFR_uc011kco.1_Missense_Mutation_p.A236D|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.A289D	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		7	1112	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		289			Approximate.|Extracellular (Potential).		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.866C>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	35	5.459485	0.96240	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01	5.94	5.94	0.96194	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	T	0.73992	0.3658	L	0.41710	1.295	0.80722	D	1	P;D;P;D;P	0.69078	0.933;0.997;0.954;0.991;0.685	B;D;P;P;B	0.79784	0.424;0.993;0.652;0.649;0.241	T	0.74890	-0.3510	10	0.87932	D	0	.	18.9232	0.92534	0.0:1.0:0.0:0.0	.	244;289;289;289;289	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	D	244;289;159;289;289;289;289;236;83	ENSP00000415559:A244D;ENSP00000342376:A289D;ENSP00000345973:A289D;ENSP00000413843:A289D;ENSP00000275493:A289D;ENSP00000410031:A289D;ENSP00000395243:A236D	ENSP00000275493:A289D	A	+	2	0	EGFR	55189316	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.794000	0.85869	2.816000	0.96949	0.563000	0.77884	GCC		0.592	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
PCLO	27445	broad.mit.edu	37	7	82474620	82474620	+	Silent	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr7:82474620G>A	ENST00000333891.9	-	13	14350	c.14013C>T	c.(14011-14013)ccC>ccT	p.P4671P	PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000423517.2_Silent_p.P4671P	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGCTCACTGAGGGGGACCCTG	0.488																																						uc003uhx.2																			0				ovary(7)	7						c.(14011-14013)CCC>CCT		piccolo isoform 1							52.0	54.0	53.0					7																	82474620		2015	4174	6189	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82474620G>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.14013C>T	7.37:g.82474620G>A						PCLO_uc003uhv.2_Silent_p.P4671P|PCLO_uc003uht.1_Silent_p.P122P|PCLO_uc003uhu.1_Silent_p.P101P	p.P4671P	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			13	14302	-			4559						Silent	SNP	ENST00000333891.9	37	c.14013C>T	CCDS47630.1																																																																																				0.488	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
STEAP4	79689	broad.mit.edu	37	7	87913202	87913202	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr7:87913202G>A	ENST00000380079.4	-	2	484	c.383C>T	c.(382-384)gCc>gTc	p.A128V	AC003991.3_ENST00000447758.1_RNA|STEAP4_ENST00000414498.1_Missense_Mutation_p.A128V|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000595121.1_RNA|STEAP4_ENST00000301959.5_Missense_Mutation_p.A128V	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	128					copper ion import (GO:0015677)|fat cell differentiation (GO:0045444)|ferric iron import into cell (GO:0097461)|iron ion homeostasis (GO:0055072)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					TACCACGTGGGCTCCTGGCAC	0.428																																						uc003ujs.2																			0					0						c.(382-384)GCC>GTC		tumor necrosis factor, alpha-induced protein 9							135.0	122.0	126.0					7																	87913202		1890	4124	6014	SO:0001583	missense	79689				fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	g.chr7:87913202G>A	AK026806	CCDS43611.1, CCDS56494.1	7q21.13	2014-01-28	2005-06-15	2005-06-15	ENSG00000127954	ENSG00000127954			21923	protein-coding gene	gene with protein product		611098	"""tumor necrosis factor, alpha-induced protein 9"""	TNFAIP9		11443137, 15897894	Standard	NM_024636		Approved	FLJ23153, TIARP, STAMP2	uc003ujs.3	Q687X5	OTTHUMG00000153853	ENST00000380079.4:c.383C>T	7.37:g.87913202G>A	ENSP00000369419:p.Ala128Val					STEAP4_uc010lek.2_Missense_Mutation_p.A128V|STEAP4_uc003ujt.2_Missense_Mutation_p.A128V	p.A128V	NM_024636	NP_078912	Q687X5	STEA4_HUMAN			2	488	-	Esophageal squamous(14;0.00802)		128					Q658Q9|Q687X4|Q8WWB0|Q9H5R1	Missense_Mutation	SNP	ENST00000380079.4	37	c.383C>T	CCDS43611.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.591593	0.46214	.	.	ENSG00000127954	ENST00000380079;ENST00000301959;ENST00000414498	T;T;T	0.18810	2.19;2.19;2.19	5.91	5.03	0.67393	NAD(P)-binding domain (1);	0.303789	0.39985	N	0.001209	T	0.31167	0.0788	M	0.75085	2.285	0.19775	N	0.999954	B;D;P	0.54601	0.024;0.967;0.54	B;P;B	0.47299	0.04;0.543;0.309	T	0.31916	-0.9926	10	0.72032	D	0.01	-2.959	11.0572	0.47925	0.0714:0.2541:0.6745:0.0	.	128;128;128	Q687X5-2;C9JS50;Q687X5	.;.;STEA4_HUMAN	V	128	ENSP00000369419:A128V;ENSP00000305545:A128V;ENSP00000394399:A128V	ENSP00000305545:A128V	A	-	2	0	STEAP4	87751138	0.735000	0.28153	0.995000	0.50966	0.973000	0.67179	3.981000	0.56902	1.502000	0.48669	0.650000	0.86243	GCC		0.428	STEAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332712.4	NM_024636	
ZNF655	79027	broad.mit.edu	37	7	99170930	99170930	+	Missense_Mutation	SNP	G	G	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr7:99170930G>T	ENST00000394163.2	+	3	1382	c.1199G>T	c.(1198-1200)aGa>aTa	p.R400I	ZNF655_ENST00000425063.1_3'UTR|ZNF655_ENST00000419215.2_3'UTR|ZNF655_ENST00000424881.1_Missense_Mutation_p.R435I|ZNF655_ENST00000493277.1_Missense_Mutation_p.R435I|ZNF655_ENST00000252713.4_Missense_Mutation_p.R400I|GS1-259H13.10_ENST00000455905.1_Intron|GS1-259H13.10_ENST00000486324.1_Intron	NM_001009960.1|NM_138494.2	NP_001009960.1|NP_612503.1	Q8N720	ZN655_HUMAN	zinc finger protein 655	400					negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R435T(1)|p.R400T(1)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					CAGCATCAAAGAATTCACACA	0.353																																						uc003urh.2																			2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)	1						c.(1198-1200)AGA>ATA		zinc finger protein 655 isoform a							75.0	76.0	75.0					7																	99170930		2203	4300	6503	SO:0001583	missense	79027				G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding	g.chr7:99170930G>T	AY099353	CCDS5669.1, CCDS5670.1, CCDS34695.1, CCDS47655.1	7q22.1	2013-01-08			ENSG00000197343	ENSG00000197343		"""Zinc fingers, C2H2-type"", ""-"""	30899	protein-coding gene	gene with protein product						11179890, 15558030	Standard	NM_001083956		Approved	VIK-1, VIK	uc010lgc.3	Q8N720	OTTHUMG00000156637	ENST00000394163.2:c.1199G>T	7.37:g.99170930G>T	ENSP00000377718:p.Arg400Ile					ZNF655_uc010lga.2_Missense_Mutation_p.R435I|ZNF655_uc010lgc.2_Missense_Mutation_p.R435I|ZNF655_uc003urj.2_Missense_Mutation_p.R400I|ZNF655_uc003urk.2_Missense_Mutation_p.R237I|ZNF655_uc010lgd.2_Missense_Mutation_p.R237I	p.R400I	NM_138494	NP_612503	Q8N720	ZN655_HUMAN			3	1592	+	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)		400			C2H2-type 5.		A4D291|A6NGD3|B4E3M4|B7Z9Q9|D6W5T4|Q8IV00|Q8TA89|Q96EZ3|Q9BQ85	Missense_Mutation	SNP	ENST00000394163.2	37	c.1199G>T	CCDS5669.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.098186	0.56183	.	.	ENSG00000197343	ENST00000252713;ENST00000493277;ENST00000424881;ENST00000394163	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	5.07	0.854	0.19007	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44902	D	0.000404	T	0.16981	0.0408	L	0.47078	1.49	0.80722	D	1	B;B	0.28419	0.176;0.211	B;B	0.28465	0.054;0.09	T	0.10109	-1.0644	10	0.52906	T	0.07	-9.315	1.2465	0.01973	0.1695:0.1485:0.3775:0.3044	.	435;400	Q8N720-3;Q8N720	.;ZN655_HUMAN	I	400;435;435;400	ENSP00000252713:R400I;ENSP00000419135:R435I;ENSP00000393876:R435I;ENSP00000377718:R400I	ENSP00000252713:R400I	R	+	2	0	ZNF655	99008866	0.000000	0.05858	0.998000	0.56505	0.990000	0.78478	0.311000	0.19380	0.354000	0.24105	0.650000	0.86243	AGA		0.353	ZNF655-009	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000344929.1	NM_138494	
RELN	5649	broad.mit.edu	37	7	103368622	103368622	+	Missense_Mutation	SNP	T	T	C			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr7:103368622T>C	ENST00000428762.1	-	7	848	c.689A>G	c.(688-690)cAg>cGg	p.Q230R	RELN_ENST00000343529.5_Missense_Mutation_p.Q230R|RELN_ENST00000424685.2_Missense_Mutation_p.Q230R	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	230					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CGCGCCACACTGTTCTCCAGT	0.458																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2																			0				ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(688-690)CAG>CGG		reelin isoform a							140.0	113.0	122.0					7																	103368622		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103368622T>C		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.689A>G	7.37:g.103368622T>C	ENSP00000392423:p.Gln230Arg					RELN_uc010liz.2_Missense_Mutation_p.Q230R	p.Q230R	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	7	849	-			230					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.689A>G	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.171440	0.78452	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.24151	1.87;1.87;1.87	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.48466	0.1501	M	0.64997	1.995	0.52501	D	0.999957	D;D	0.57899	0.981;0.967	D;D	0.70487	0.969;0.932	T	0.36040	-0.9764	10	0.41790	T	0.15	.	16.0892	0.81080	0.0:0.0:0.0:1.0	.	230;230	P78509-2;P78509	.;RELN_HUMAN	R	230	ENSP00000392423:Q230R;ENSP00000345694:Q230R;ENSP00000388446:Q230R	ENSP00000345694:Q230R	Q	-	2	0	RELN	103155858	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.142000	0.71750	2.279000	0.76181	0.533000	0.62120	CAG		0.458	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	
TAS2R16	50833	broad.mit.edu	37	7	122635067	122635067	+	Missense_Mutation	SNP	G	G	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr7:122635067G>T	ENST00000249284.2	-	1	687	c.622C>A	c.(622-624)Caa>Aaa	p.Q208K		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	208					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	bitter taste receptor activity (GO:0033038)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTATGATGTTGTATCTGCTTG	0.463																																						uc003vkl.1																			0				ovary(1)|skin(1)	2						c.(622-624)CAA>AAA		taste receptor T2R16							153.0	128.0	137.0					7																	122635067		2203	4300	6503	SO:0001583	missense	50833				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding	g.chr7:122635067G>T	AF227139	CCDS5785.1	7q31.1-q31.3	2012-08-22			ENSG00000128519	ENSG00000128519		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14921	protein-coding gene	gene with protein product		604867				10761934	Standard	NM_016945		Approved	T2R16	uc003vkl.1	Q9NYV7	OTTHUMG00000157090	ENST00000249284.2:c.622C>A	7.37:g.122635067G>T	ENSP00000249284:p.Gln208Lys						p.Q208K	NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN			1	688	-			208			Cytoplasmic (Potential).		A4D0X2|Q502V3|Q549U8|Q645W1	Missense_Mutation	SNP	ENST00000249284.2	37	c.622C>A	CCDS5785.1	.	.	.	.	.	.	.	.	.	.	G	5.802	0.332237	0.10956	.	.	ENSG00000128519	ENST00000249284	T	0.00801	5.68	4.59	1.5	0.22942	.	0.614196	0.15033	N	0.284341	T	0.00967	0.0032	L	0.31294	0.92	0.09310	N	1	B	0.26577	0.153	B	0.25987	0.065	T	0.47649	-0.9101	10	0.35671	T	0.21	.	10.2941	0.43613	0.0:0.0:0.4303:0.5697	.	208	Q9NYV7	T2R16_HUMAN	K	208	ENSP00000249284:Q208K	ENSP00000249284:Q208K	Q	-	1	0	TAS2R16	122422303	0.164000	0.22935	0.002000	0.10522	0.030000	0.12068	0.119000	0.15626	0.187000	0.20147	0.655000	0.94253	CAA		0.463	TAS2R16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347409.1	NM_016945	
TRPV6	55503	broad.mit.edu	37	7	142575732	142575732	+	Missense_Mutation	SNP	T	T	C			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr7:142575732T>C	ENST00000359396.3	-	2	421	c.176A>G	c.(175-177)cAg>cGg	p.Q59R	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	59					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GTTCAGGGCCTGGACATCATT	0.493																																						uc003wbx.1																			0				ovary(2)	2						c.(175-177)CAG>CGG		transient receptor potential cation channel,							196.0	153.0	167.0					7																	142575732		2203	4300	6503	SO:0001583	missense	55503				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	g.chr7:142575732T>C	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.176A>G	7.37:g.142575732T>C	ENSP00000352358:p.Gln59Arg					TRPV6_uc003wbw.1_5'Flank|TRPV6_uc010lou.1_5'UTR	p.Q59R	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN			2	392	-	Melanoma(164;0.059)		59			ANK 1.|Cytoplasmic (Potential).		A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	c.176A>G	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	T	6.745	0.506301	0.12883	.	.	ENSG00000165125	ENST00000359396	T	0.64991	-0.13	4.33	-1.03	0.10102	Ankyrin repeat-containing domain (4);	0.441560	0.24048	N	0.042033	T	0.38134	0.1029	L	0.27975	0.815	0.22253	N	0.999252	B	0.02656	0.0	B	0.08055	0.003	T	0.14144	-1.0483	10	0.15066	T	0.55	-10.5856	5.6084	0.17392	0.0:0.2602:0.4888:0.251	.	59	Q9H1D0	TRPV6_HUMAN	R	59	ENSP00000352358:Q59R	ENSP00000352358:Q59R	Q	-	2	0	TRPV6	142285854	0.000000	0.05858	0.913000	0.36048	0.754000	0.42855	-0.199000	0.09491	-0.075000	0.12798	-0.274000	0.10170	CAG		0.493	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274	
DCTN6	10671	broad.mit.edu	37	8	30040689	30040689	+	Nonstop_Mutation	SNP	A	A	C			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr8:30040689A>C	ENST00000221114.3	+	7	660	c.573A>C	c.(571-573)taA>taC	p.*191Y	RP11-51J9.4_ENST00000523733.1_RNA	NM_006571.3	NP_006562.1	O00399	DCTN6_HUMAN	dynactin 6	0					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|mitotic spindle organization (GO:0007052)	centrosome (GO:0005813)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|kinetochore (GO:0000776)				endometrium(1)|lung(1)|ovary(1)|prostate(1)	4				KIRC - Kidney renal clear cell carcinoma(542;0.099)|Kidney(114;0.119)		TAAAGAACTAAGAACAGTGTA	0.378																																						uc003xhy.2																			0				ovary(1)	1						c.(571-573)TAA>TAC		dynactin 6							89.0	80.0	83.0					8																	30040689		2203	4300	6503	SO:0001578	stop_lost	10671					centrosome	transferase activity	g.chr8:30040689A>C	D84145	CCDS6076.1	8p12-p11	2003-03-20			ENSG00000104671	ENSG00000104671			16964	protein-coding gene	gene with protein product		612963				9168138	Standard	NM_006571		Approved	WS-3	uc003xhy.3	O00399	OTTHUMG00000163828	ENST00000221114.3:c.573A>C	8.37:g.30040689A>C	ENSP00000221114:p.*191Tyrext*6						p.*191Y	NM_006571	NP_006562	O00399	DCTN6_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.099)|Kidney(114;0.119)	7	660	+			191					B2RAC1	Nonstop_Mutation	SNP	ENST00000221114.3	37	c.573A>C	CCDS6076.1	.	.	.	.	.	.	.	.	.	.	A	14.48	2.548363	0.45383	.	.	ENSG00000104671	ENST00000221114	.	.	.	5.72	4.57	0.56435	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.7581	0.40515	0.919:0.0:0.081:0.0	.	.	.	.	Y	191	.	.	X	+	3	2	DCTN6	30160231	0.997000	0.39634	0.758000	0.31321	0.726000	0.41606	5.396000	0.66297	0.999000	0.39023	0.533000	0.62120	TAA		0.378	DCTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375815.2	NM_006571	
PLEKHA2	59339	broad.mit.edu	37	8	38826181	38826181	+	Silent	SNP	C	C	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr8:38826181C>T	ENST00000420274.1	+	11	1143	c.909C>T	c.(907-909)caC>caT	p.H303H	PLEKHA2_ENST00000521746.1_Intron|CTD-2544N14.3_ENST00000520863.1_RNA|PLEKHA2_ENST00000388745.4_3'UTR	NM_021623.1	NP_067636.1	Q9HB19	PKHA2_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2	303					positive regulation of cell-matrix adhesion (GO:0001954)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)			TCAAGTGCCACCCCAGAGTAA	0.498																																						uc003xmi.3																			0					0						c.(907-909)CAC>CAT		pleckstrin homology domain containing, family A							95.0	102.0	100.0					8																	38826181		2031	4192	6223	SO:0001819	synonymous_variant	59339				positive regulation of cell-matrix adhesion	cytoplasm|nucleus|plasma membrane|protein complex	fibronectin binding|laminin binding	g.chr8:38826181C>T	AF286164	CCDS75732.1	8p11.21	2013-01-10	2002-01-14			ENSG00000169499		"""Pleckstrin homology (PH) domain containing"""	14336	protein-coding gene	gene with protein product	"""tandem PH Domain containing protein-2"""	607773	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 2"""			11001876	Standard	NM_021623		Approved	TAPP2	uc003xmi.4	Q9HB19		ENST00000420274.1:c.909C>T	8.37:g.38826181C>T						PLEKHA2_uc011lce.1_Silent_p.H253H	p.H303H	NM_021623	NP_067636	Q9HB19	PKHA2_HUMAN	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)		11	1143	+		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	303						Silent	SNP	ENST00000420274.1	37	c.909C>T																																																																																					0.498	PLEKHA2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021623	
ANK1	286	broad.mit.edu	37	8	41543721	41543721	+	Missense_Mutation	SNP	T	T	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr8:41543721T>A	ENST00000347528.4	-	36	4422	c.4339A>T	c.(4339-4341)Agt>Tgt	p.S1447C	ANK1_ENST00000396942.1_Missense_Mutation_p.S1447C|ANK1_ENST00000289734.7_Missense_Mutation_p.S1447C|ANK1_ENST00000352337.4_Missense_Mutation_p.S1447C|ANK1_ENST00000379758.2_Missense_Mutation_p.S1447C|ANK1_ENST00000396945.1_Missense_Mutation_p.S1447C|ANK1_ENST00000265709.8_Missense_Mutation_p.S1488C	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1447	55 kDa regulatory domain.|Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			AAGGCCACACTCTGCTCCAAC	0.557																																						uc003xok.2																			0				ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9						c.(4339-4341)AGT>TGT		ankyrin 1 isoform 1							144.0	108.0	120.0					8																	41543721		2203	4300	6503	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41543721T>A	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.4339A>T	8.37:g.41543721T>A	ENSP00000339620:p.Ser1447Cys					NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.S763C|ANK1_uc003xoi.2_Missense_Mutation_p.S1447C|ANK1_uc003xoj.2_Missense_Mutation_p.S1447C|ANK1_uc003xol.2_Missense_Mutation_p.S1447C|ANK1_uc003xom.2_Missense_Mutation_p.S1488C	p.S1447C	NM_020476	NP_065209	P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		36	4423	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	1447			55 kDa regulatory domain.|Death.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.4339A>T	CCDS6119.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.9|25.9	4.686664|4.686664	0.88639|0.88639	.|.	.|.	ENSG00000029534|ENSG00000029534	ENST00000520299|ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	.|D;D;D;D;D;D;D	.|0.85955	.|-2.05;-2.05;-2.05;-2.05;-2.05;-2.05;-2.05	5.49|5.49	5.49|5.49	0.81192|0.81192	.|Death (3);DEATH-like (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.89556|0.89556	0.6749|0.6749	L|L	0.50919|0.50919	1.6|1.6	0.80722|0.80722	D|D	1|1	.|D;D;D;B;D;B	.|0.69078	.|0.986;0.997;0.968;0.046;0.964;0.311	.|D;D;D;B;D;P	.|0.68192	.|0.91;0.926;0.956;0.112;0.91;0.527	D|D	0.90088|0.90088	0.4175|0.4175	5|10	.|0.56958	.|D	.|0.05	.|.	14.7489|14.7489	0.69511|0.69511	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1488;1447;1447;1447;1447;763	.|P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39	.|.;.;ANK1_HUMAN;.;.;.	V|C	768|1447;1447;1447;1447;1447;1447;1488;1447	.|ENSP00000339620:S1447C;ENSP00000289734:S1447C;ENSP00000369082:S1447C;ENSP00000380149:S1447C;ENSP00000380147:S1447C;ENSP00000309131:S1447C;ENSP00000265709:S1488C	.|ENSP00000265709:S1488C	E|S	-|-	2|1	0|0	ANK1|ANK1	41662878|41662878	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.917000|0.917000	0.54804|0.54804	7.430000|7.430000	0.80321|0.80321	2.080000|2.080000	0.62538|0.62538	0.533000|0.533000	0.62120|0.62120	GAG|AGT		0.557	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475	
IL7	3574	broad.mit.edu	37	8	79645969	79645969	+	Silent	SNP	C	C	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr8:79645969C>T	ENST00000263851.4	-	6	1113	c.513G>A	c.(511-513)ttG>ttA	p.L171L	IL7_ENST00000519833.1_Intron|IL7_ENST00000520269.1_Silent_p.L127L|IL7_ENST00000541183.1_Silent_p.L58L	NM_000880.3|NM_001199886.1|NM_001199887.1	NP_000871.1|NP_001186815.1|NP_001186816.1	P13232	IL7_HUMAN	interleukin 7	171					bone resorption (GO:0045453)|cell-cell signaling (GO:0007267)|homeostasis of number of cells within a tissue (GO:0048873)|humoral immune response (GO:0006959)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|organ morphogenesis (GO:0009887)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T cell differentiation (GO:0045582)|regulation of gene expression (GO:0010468)|T cell lineage commitment (GO:0002360)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|interleukin-7 receptor binding (GO:0005139)			endometrium(2)|large_intestine(2)|lung(1)	5						TAGTGCCCATCAAAATTTTAT	0.323																																						uc003ybg.2																			0					0						c.(511-513)TTG>TTA		interleukin 7 precursor							124.0	126.0	126.0					8																	79645969		2203	4299	6502	SO:0001819	synonymous_variant	3574				bone resorption|cell-cell signaling|humoral immune response|organ morphogenesis|positive regulation of B cell proliferation|positive regulation of T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-7 receptor binding	g.chr8:79645969C>T	J04156	CCDS6224.1, CCDS56541.1, CCDS75755.1, CCDS75756.1	8q12-q13	2008-07-03				ENSG00000104432		"""Interleukins and interleukin receptors"""	6023	protein-coding gene	gene with protein product		146660					Standard	NM_000880		Approved	IL-7	uc003ybg.3	P13232		ENST00000263851.4:c.513G>A	8.37:g.79645969C>T						IL7_uc003ybe.2_Silent_p.L86L|IL7_uc011lfm.1_RNA|IL7_uc003ybh.2_RNA|IL7_uc003ybi.3_RNA	p.L171L	NM_000880	NP_000871	P13232	IL7_HUMAN			6	1114	-			171					A0N0L3|Q5FBY5|Q5FBY9	Silent	SNP	ENST00000263851.4	37	c.513G>A	CCDS6224.1																																																																																				0.323	IL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379429.1		
RGS22	26166	broad.mit.edu	37	8	101016271	101016271	+	Missense_Mutation	SNP	C	C	T	rs545074494		TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr8:101016271C>T	ENST00000360863.6	-	17	2704	c.2510G>A	c.(2509-2511)cGa>cAa	p.R837Q	RGS22_ENST00000523437.1_Missense_Mutation_p.R825Q|RGS22_ENST00000519421.1_5'UTR|SNORD77_ENST00000391112.1_RNA|RGS22_ENST00000523287.1_Missense_Mutation_p.R656Q	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	837					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.R837Q(2)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			ATATTCTGTTCGTTTAGAGAC	0.353													C|||	1	0.000199681	0.0	0.0	5008	,	,		18959	0.001		0.0	False		,,,				2504	0.0					uc003yjb.1																			2	Substitution - Missense(2)		large_intestine(2)	ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7						c.(2509-2511)CGA>CAA		regulator of G-protein signaling 22							130.0	119.0	123.0					8																	101016271		1851	4091	5942	SO:0001583	missense	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:101016271C>T	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.2510G>A	8.37:g.101016271C>T	ENSP00000354109:p.Arg837Gln					RGS22_uc003yja.1_Missense_Mutation_p.R656Q|RGS22_uc003yjc.1_Missense_Mutation_p.R825Q|RGS22_uc011lgz.1_RNA	p.R837Q	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		17	2705	-			837					A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	ENST00000360863.6	37	c.2510G>A	CCDS43758.1	.	.	.	.	.	.	.	.	.	.	C	1.388	-0.581481	0.03854	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523287;ENST00000523437;ENST00000517828	T;T;T;T	0.41400	1.61;1.61;1.61;1.0	5.49	1.78	0.24846	.	1.201650	0.05911	N	0.631661	T	0.14485	0.0350	N	0.00583	-1.355	0.09310	N	1	B;B;B	0.10296	0.003;0.003;0.002	B;B;B	0.04013	0.001;0.001;0.001	T	0.22765	-1.0207	10	0.16896	T	0.51	.	8.891	0.35434	0.0:0.0744:0.1283:0.7973	.	825;837;656	A8K944;Q8NE09;G3V112	.;RGS22_HUMAN;.	Q	837;825;656;825;152	ENSP00000354109:R837Q;ENSP00000429382:R656Q;ENSP00000428212:R825Q;ENSP00000427754:R152Q	ENSP00000354109:R837Q	R	-	2	0	RGS22	101085447	0.210000	0.23517	0.047000	0.18901	0.118000	0.20060	0.532000	0.23067	0.057000	0.16193	-1.074000	0.02243	CGA		0.353	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668	
SMARCA2	6595	broad.mit.edu	37	9	2029232	2029232	+	Missense_Mutation	SNP	G	G	C	rs529054959	byFrequency	TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr9:2029232G>C	ENST00000382203.1	+	2	419	c.210G>C	c.(208-210)atG>atC	p.M70I	SMARCA2_ENST00000382194.1_Missense_Mutation_p.M70I|SMARCA2_ENST00000349721.2_Missense_Mutation_p.M70I|SMARCA2_ENST00000357248.2_Missense_Mutation_p.M70I			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	70					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		AGGAAGGCATGCATCAAATGC	0.493																																						uc003zhc.2																			0				ovary(2)|central_nervous_system(1)	3						c.(208-210)ATG>ATC		SWI/SNF-related matrix-associated							39.0	32.0	35.0					9																	2029232		2203	4300	6503	SO:0001583	missense	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2029232G>C	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.210G>C	9.37:g.2029232G>C	ENSP00000371638:p.Met70Ile					SMARCA2_uc003zhd.2_Missense_Mutation_p.M70I|SMARCA2_uc010mha.2_Missense_Mutation_p.M61I	p.M70I	NM_003070	NP_003061	P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	2	309	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	70					B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	c.210G>C	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.190604	0.38707	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000450198;ENST00000439732;ENST00000382203;ENST00000382194	D;D;T;D;D	0.87650	-2.28;-2.26;0.7;-2.28;-2.26	5.61	2.72	0.32119	.	0.151372	0.56097	N	0.000024	T	0.73567	0.3603	N	0.17474	0.49	0.80722	D	1	B;B	0.11235	0.004;0.0	B;B	0.08055	0.003;0.0	T	0.63747	-0.6567	10	0.37606	T	0.19	-10.7341	6.1408	0.20259	0.2043:0.0:0.665:0.1306	.	70;70	P51531-2;P51531	.;SMCA2_HUMAN	I	70	ENSP00000265773:M70I;ENSP00000349788:M70I;ENSP00000392081:M70I;ENSP00000371638:M70I;ENSP00000371629:M70I	ENSP00000265773:M70I	M	+	3	0	SMARCA2	2019232	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	3.591000	0.53986	0.708000	0.31955	-0.321000	0.08615	ATG		0.493	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070	
IL33	90865	broad.mit.edu	37	9	6251142	6251142	+	Missense_Mutation	SNP	A	A	G			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr9:6251142A>G	ENST00000381434.3	+	3	233	c.220A>G	c.(220-222)Aga>Gga	p.R74G	IL33_ENST00000456383.2_Missense_Mutation_p.R74G|IL33_ENST00000417746.2_Intron	NM_033439.3	NP_254274.1	O95760	IL33_HUMAN	interleukin 33	74	Interaction with RELA. {ECO:0000250}.				extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of immunoglobulin secretion (GO:0051025)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type 2 immune response (GO:0002830)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|nucleus (GO:0005634)	cytokine activity (GO:0005125)			breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		GTCTGCAGGTAGAAAGCACAA	0.493																																						uc003zjt.2																			0					0						c.(220-222)AGA>GGA		interleukin 33 precursor							160.0	122.0	135.0					9																	6251142		2203	4300	6503	SO:0001583	missense	90865				positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity	g.chr9:6251142A>G	AB024518	CCDS6468.1, CCDS56563.1, CCDS56564.1	9p24.1	2014-01-28	2006-11-20	2006-11-20	ENSG00000137033	ENSG00000137033		"""Interleukins and interleukin receptors"""	16028	protein-coding gene	gene with protein product	"""DVS27-related protein"", ""nuclear factor for high endothelial venules"", ""interleukin-1 family, member 11"""	608678	"""chromosome 9 open reading frame 26 (NF-HEV)"""	C9orf26		10566975, 12819012	Standard	NM_033439		Approved	DVS27, DKFZp586H0523, NF-HEV, IL1F11	uc003zjt.3	O95760	OTTHUMG00000019516	ENST00000381434.3:c.220A>G	9.37:g.6251142A>G	ENSP00000370842:p.Arg74Gly					IL33_uc011lmg.1_Missense_Mutation_p.R74G|IL33_uc011lmh.1_Intron|IL33_uc003zju.1_Missense_Mutation_p.R74G	p.R74G	NM_033439	NP_254274	O95760	IL33_HUMAN		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)	4	277	+		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)	74					B2R8L1|B4DJ35|B4E1Q9|D3DRI5|E7EAX4|Q2YEJ5	Missense_Mutation	SNP	ENST00000381434.3	37	c.220A>G	CCDS6468.1	.	.	.	.	.	.	.	.	.	.	A	4.741	0.137850	0.09032	.	.	ENSG00000137033	ENST00000456383;ENST00000381434	T;T	0.43294	0.95;0.95	4.28	-3.69	0.04450	.	3.289210	0.00659	N	0.000595	T	0.24509	0.0594	N	0.11427	0.14	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17899	-1.0354	10	0.19590	T	0.45	6.3018	10.9262	0.47191	0.7377:0.0:0.2623:0.0	.	74;74	B4E1Q9;O95760	.;IL33_HUMAN	G	74	ENSP00000414238:R74G;ENSP00000370842:R74G	ENSP00000370842:R74G	R	+	1	2	IL33	6241142	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-1.937000	0.01547	-0.784000	0.04528	-1.052000	0.02337	AGA		0.493	IL33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051655.1	NM_033439	
ZNF484	83744	broad.mit.edu	37	9	95610513	95610513	+	Nonsense_Mutation	SNP	C	C	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr9:95610513C>A	ENST00000375495.3	-	5	704	c.556G>T	c.(556-558)Gag>Tag	p.E186*	ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395505.2_Nonsense_Mutation_p.E150*|ZNF484_ENST00000332591.6_Nonsense_Mutation_p.E150*|ZNF484_ENST00000395506.3_Nonsense_Mutation_p.E188*	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	186					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						ATGATAGGCTCCAAATTCTTT	0.343																																						uc004asu.1																			0					0						c.(556-558)GAG>TAG		zinc finger protein 484 isoform a							122.0	125.0	124.0					9																	95610513		2203	4300	6503	SO:0001587	stop_gained	83744				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:95610513C>A	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.556G>T	9.37:g.95610513C>A	ENSP00000364645:p.Glu186*					ANKRD19_uc004asr.3_Intron|ZNF484_uc011lub.1_Nonsense_Mutation_p.E188*|ZNF484_uc010mrb.1_Nonsense_Mutation_p.E150*|ZNF484_uc004asv.1_Nonsense_Mutation_p.E150*	p.E186*	NM_031486	NP_113674	Q5JVG2	ZN484_HUMAN			5	705	-			186					B1AL89|B4DRI2	Nonsense_Mutation	SNP	ENST00000375495.3	37	c.556G>T	CCDS35066.1	.	.	.	.	.	.	.	.	.	.	.	9.111	1.006460	0.19199	.	.	ENSG00000127081	ENST00000395505;ENST00000395506;ENST00000375495;ENST00000332591	.	.	.	2.94	-0.935	0.10423	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	2.8108	0.05441	0.195:0.291:0.0:0.5139	.	.	.	.	X	150;188;186;150	.	ENSP00000364646:E150X	E	-	1	0	ZNF484	94650334	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	0.151000	0.16283	-0.193000	0.10415	-0.183000	0.12914	GAG		0.343	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053111.2	XM_046861	
ZNF462	58499	broad.mit.edu	37	9	109687562	109687562	+	Missense_Mutation	SNP	C	C	G			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr9:109687562C>G	ENST00000277225.5	+	3	1658	c.1369C>G	c.(1369-1371)Cac>Gac	p.H457D	ZNF462_ENST00000457913.1_Missense_Mutation_p.H457D|ZNF462_ENST00000441147.2_5'Flank			Q96JM2	ZN462_HUMAN	zinc finger protein 462	457					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CATCTCTCGTCACATAGAAAA	0.438																																						uc004bcz.2																			0				ovary(5)	5						c.(1369-1371)CAC>GAC		zinc finger protein 462							127.0	121.0	123.0					9																	109687562		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109687562C>G	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.1369C>G	9.37:g.109687562C>G	ENSP00000277225:p.His457Asp					ZNF462_uc010mto.2_Missense_Mutation_p.H305D|ZNF462_uc004bda.2_Missense_Mutation_p.H305D	p.H457D	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN			3	1658	+			457			C2H2-type 4.		Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.1369C>G	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.500680	0.44455	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.21191	2.02;2.73	5.93	5.03	0.67393	Zinc finger, C2H2-like (1);	0.044090	0.85682	D	0.000000	T	0.17789	0.0427	N	0.19112	0.55	0.80722	D	1	P;P	0.38827	0.649;0.565	B;B	0.42625	0.273;0.393	T	0.05733	-1.0867	9	.	.	.	.	14.8471	0.70267	0.1439:0.8561:0.0:0.0	.	457;457	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	D	457	ENSP00000277225:H457D;ENSP00000414570:H457D	.	H	+	1	0	ZNF462	108727383	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	7.411000	0.80078	1.487000	0.48415	0.561000	0.74099	CAC		0.438	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224	
FAM129B	64855	broad.mit.edu	37	9	130289580	130289580	+	Missense_Mutation	SNP	C	C	T	rs541599134		TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr9:130289580C>T	ENST00000373312.3	-	3	421	c.208G>A	c.(208-210)Gtc>Atc	p.V70I	FAM129B_ENST00000468379.1_5'UTR|FAM129B_ENST00000373314.3_Missense_Mutation_p.V57I	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	70	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CCCGAGAAGACGATGCGCTCG	0.637																																						uc004brh.2																			0					0						c.(208-210)GTC>ATC		hypothetical protein LOC64855 isoform 1							69.0	62.0	65.0					9																	130289580		2203	4300	6503	SO:0001583	missense	64855						protein binding	g.chr9:130289580C>T	AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"""chromosome 9 open reading frame 88"""	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.208G>A	9.37:g.130289580C>T	ENSP00000362409:p.Val70Ile					FAM129B_uc004bri.2_Missense_Mutation_p.V57I|FAM129B_uc004brj.3_Missense_Mutation_p.V70I	p.V70I	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN			3	410	-			70			PH.		Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Missense_Mutation	SNP	ENST00000373312.3	37	c.208G>A	CCDS35145.1	.	.	.	.	.	.	.	.	.	.	c	1.666	-0.510235	0.04231	.	.	ENSG00000136830	ENST00000373314;ENST00000373312	T;T	0.16073	2.37;2.37	5.43	4.29	0.51040	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.051364	0.85682	N	0.000000	T	0.04724	0.0128	N	0.01352	-0.895	0.21325	N	0.999727	B;B	0.06786	0.001;0.001	B;B	0.04013	0.0;0.001	T	0.40664	-0.9551	10	0.02654	T	1	-24.9417	9.7575	0.40513	0.0:0.083:0.0:0.9169	.	57;70	Q96TA1-2;Q96TA1	.;NIBL1_HUMAN	I	57;70	ENSP00000362411:V57I;ENSP00000362409:V70I	ENSP00000362409:V70I	V	-	1	0	FAM129B	129329401	1.000000	0.71417	1.000000	0.80357	0.257000	0.26127	5.627000	0.67784	0.886000	0.36113	-0.430000	0.05897	GTC		0.637	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	NM_022833	
PAEP	5047	broad.mit.edu	37	9	138453719	138453719	+	Silent	SNP	C	C	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr9:138453719C>A	ENST00000479141.1	+	1	116	c.72C>A	c.(70-72)acC>acA	p.T24T	PAEP_ENST00000371766.2_Silent_p.T24T|PAEP_ENST00000277508.5_Silent_p.T24T	NM_002571.2	NP_002562.2	P09466	PAEP_HUMAN	progestagen-associated endometrial protein	24					multicellular organismal development (GO:0007275)|transport (GO:0006810)	extracellular region (GO:0005576)	small molecule binding (GO:0036094)			cervix(1)|endometrium(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		TCCCCCAGACCAAGCAGGACC	0.682																																						uc004cge.1																			0					0						c.(70-72)ACC>ACA		glycodelin precursor							17.0	17.0	17.0					9																	138453719		2189	4286	6475	SO:0001819	synonymous_variant	5047				multicellular organismal development	extracellular region	binding|transporter activity	g.chr9:138453719C>A		CCDS35173.1	9q34	2011-11-15	2008-07-31		ENSG00000122133	ENSG00000122133		"""Lipocalins"""	8573	protein-coding gene	gene with protein product	"""glycodelin-A"", ""glycodelin-S"", ""glycodelin-F"", ""progesterone-associated endometrial protein"", ""glycodelin"", ""PP14 protein (placental protein 14)"", ""pregnancy-associated endometrial alpha-2-globulin"", ""alpha uterine protein"""	173310				3320533, 2016092	Standard	XM_005263405		Approved	PEP, PP14, GdA, GdS, GdF, PAEG, GD, MGC138509, MGC142288	uc004cgd.1	P09466	OTTHUMG00000020914	ENST00000479141.1:c.72C>A	9.37:g.138453719C>A						PAEP_uc010naw.1_Silent_p.T24T|PAEP_uc010naz.2_RNA|PAEP_uc010nay.2_Silent_p.T24T|PAEP_uc010nba.1_Silent_p.T24T|PAEP_uc004cgd.1_Silent_p.T24T|PAEP_uc011mdp.1_Silent_p.T24T|PAEP_uc004cgg.1_Silent_p.T24T|PAEP_uc010nbc.1_Silent_p.T24T|PAEP_uc004cgf.1_Silent_p.T24T	p.T24T	NM_001018049	NP_001018059	P09466	PAEP_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)	1	116	+			24					Q5T6T1|Q9UG92	Silent	SNP	ENST00000479141.1	37	c.72C>A	CCDS35173.1	.	.	.	.	.	.	.	.	.	.	C	1.766	-0.485694	0.04352	.	.	ENSG00000122133	ENST00000433563	.	.	.	1.38	-0.765	0.11023	.	.	.	.	.	T	0.21145	0.0509	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25257	-1.0137	4	.	.	.	.	2.6884	0.05114	0.0:0.4723:0.3092:0.2185	.	.	.	.	K	10	.	.	Q	+	1	0	PAEP	137593540	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.291000	0.18994	-0.257000	0.09459	-0.339000	0.08088	CAA		0.682	PAEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055010.1	NM_001018049	
MXRA5	25878	broad.mit.edu	37	X	3235331	3235331	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chrX:3235331C>T	ENST00000217939.6	-	6	6545	c.6391G>A	c.(6391-6393)Gcg>Acg	p.A2131T		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2131	Ig-like C2-type 5.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTCCTGCGCGCGGAGCCTACC	0.662																																						uc004crg.3																			0				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(6391-6393)GCG>ACG		adlican precursor							34.0	27.0	29.0					X																	3235331		2201	4299	6500	SO:0001583	missense	25878					extracellular region		g.chrX:3235331C>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.6391G>A	X.37:g.3235331C>T	ENSP00000217939:p.Ala2131Thr						p.A2131T	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			6	6548	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2131			Ig-like C2-type 5.		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.6391G>A	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	c	13.67	2.306364	0.40795	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.68903	-0.36	3.48	2.55	0.30701	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.36628	U	0.002485	T	0.72195	0.3430	L	0.42632	1.34	0.26804	N	0.969145	D	0.89917	1.0	D	0.81914	0.995	T	0.62671	-0.6805	10	0.37606	T	0.19	.	11.6221	0.51124	0.1781:0.8219:0.0:0.0	.	2131	Q9NR99	MXRA5_HUMAN	T	2131	ENSP00000217939:A2131T	ENSP00000217939:A2131T	A	-	1	0	MXRA5	3245331	0.896000	0.30565	0.972000	0.41901	0.148000	0.21650	1.677000	0.37576	1.354000	0.45846	0.597000	0.82753	GCG		0.662	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419	
MAGEB6	158809	broad.mit.edu	37	X	26212996	26212996	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chrX:26212996C>T	ENST00000379034.1	+	2	1182	c.1033C>T	c.(1033-1035)Cgg>Tgg	p.R345W		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	345	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.R345W(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CGTGGTTTACCGGCAGGTGTG	0.498																																						uc004dbr.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1033-1035)CGG>TGG		melanoma antigen family B, 6							93.0	92.0	92.0					X																	26212996		2201	4281	6482	SO:0001583	missense	158809							g.chrX:26212996C>T	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.1033C>T	X.37:g.26212996C>T	ENSP00000368320:p.Arg345Trp					MAGEB6_uc010ngc.1_Missense_Mutation_p.R125W	p.R345W	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN			2	1182	+			345			MAGE.		Q6GS19|Q9H219	Missense_Mutation	SNP	ENST00000379034.1	37	c.1033C>T	CCDS14217.1	.	.	.	.	.	.	.	.	.	.	C	9.347	1.064495	0.20067	.	.	ENSG00000176746	ENST00000379034	T	0.06449	3.3	3.29	1.5	0.22942	.	0.845487	0.09939	U	0.736191	T	0.09512	0.0234	M	0.75777	2.31	0.09310	N	1	B	0.20052	0.041	B	0.22601	0.04	T	0.32587	-0.9901	10	0.62326	D	0.03	.	4.8155	0.13365	0.0:0.6982:0.0:0.3018	.	345	Q8N7X4	MAGB6_HUMAN	W	345	ENSP00000368320:R345W	ENSP00000368320:R345W	R	+	1	2	MAGEB6	26122917	0.000000	0.05858	0.004000	0.12327	0.004000	0.04260	0.419000	0.21247	0.269000	0.21961	0.594000	0.82650	CGG		0.498	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523	
USP9X	8239	broad.mit.edu	37	X	41075579	41075579	+	Missense_Mutation	SNP	G	G	C			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chrX:41075579G>C	ENST00000324545.8	+	35	6392	c.5759G>C	c.(5758-5760)tGt>tCt	p.C1920S	USP9X_ENST00000378308.2_Missense_Mutation_p.C1920S	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1920	USP.				axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						AAAAACCAGTGTTTTGGTGGA	0.388																																					Ovarian(172;1807 2695 35459 49286)	uc004dfb.2																			0				lung(3)|breast(2)|ovary(1)	6						c.(5758-5760)TGT>TCT		ubiquitin specific protease 9, X-linked isoform							136.0	132.0	134.0					X																	41075579		2201	4299	6500	SO:0001583	missense	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41075579G>C	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.5759G>C	X.37:g.41075579G>C	ENSP00000316357:p.Cys1920Ser					USP9X_uc004dfc.2_Missense_Mutation_p.C1920S	p.C1920S	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN			35	6392	+			1920					O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	c.5759G>C	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.248543	0.80024	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.27720	1.65;1.65	5.8	5.8	0.92144	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.56615	0.1997	M	0.68593	2.085	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.77557	0.99;0.987	T	0.57271	-0.7840	10	0.62326	D	0.03	.	19.0114	0.92874	0.0:0.0:1.0:0.0	.	1920;1920	Q93008-1;Q93008	.;USP9X_HUMAN	S	1920	ENSP00000367558:C1920S;ENSP00000316357:C1920S	ENSP00000316357:C1920S	C	+	2	0	USP9X	40960523	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.465000	0.97660	2.439000	0.82584	0.544000	0.68410	TGT		0.388	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652	
SLC9A7	84679	broad.mit.edu	37	X	46491045	46491047	+	In_Frame_Del	DEL	GTT	GTT	-			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chrX:46491045_46491047delGTT	ENST00000328306.4	-	14	1736_1738	c.1711_1713delAAC	c.(1711-1713)aacdel	p.N571del	SLC9A7_ENST00000464933.1_5'UTR	NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	571					ion transport (GO:0006811)|potassium ion transmembrane transport (GO:0071805)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)	potassium:proton antiporter activity (GO:0015386)|protein homodimerization activity (GO:0042803)|sodium:proton antiporter activity (GO:0015385)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						GAAAGCTGTCGTTGTTGGGTGGT	0.483																																					Pancreas(118;454 1696 1930 13865 39976)	uc004dgu.1																			0				ovary(2)	2						c.(1711-1713)AACdel		solute carrier family 9, member 7																																				SO:0001651	inframe_deletion	84679				regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity	g.chrX:46491045_46491047delGTT	AF298591	CCDS14269.1, CCDS75967.1	Xp11.3	2013-05-22	2012-03-22		ENSG00000065923	ENSG00000065923		"""Solute carriers"""	17123	protein-coding gene	gene with protein product		300368	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 7"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 7"""			11279194	Standard	NM_001257291		Approved	NHE7	uc004dgv.2	Q96T83	OTTHUMG00000021428	ENST00000328306.4:c.1711_1713delAAC	X.37:g.46491048_46491050delGTT	ENSP00000330320:p.Asn571del						p.N571del	NM_032591	NP_115980	Q96T83	SL9A7_HUMAN			14	1719_1721	-			571					O75827|Q5JXP9	In_Frame_Del	DEL	ENST00000328306.4	37	c.1711_1713delAAC	CCDS14269.1																																																																																				0.483	SLC9A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056370.1	NM_032591	
CXorf67	340602	broad.mit.edu	37	X	51150985	51150985	+	Missense_Mutation	SNP	G	G	C			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chrX:51150985G>C	ENST00000342995.2	+	1	1219	c.1117G>C	c.(1117-1119)Ggg>Cgg	p.G373R				Q86X51	CX067_HUMAN	chromosome X open reading frame 67	373	Ser-rich.									breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						TCCTTCCTGTGGGACTGGCTC	0.602																																						uc004dpj.2																			0											c.(1117-1119)GGG>CGG		hypothetical protein LOC340602							57.0	46.0	49.0					X																	51150985		2203	4300	6503	SO:0001583	missense	0							g.chrX:51150985G>C	BC046248		Xp11.22	2014-04-30			ENSG00000187690	ENSG00000187690			33738	protein-coding gene	gene with protein product						23959973	Standard	XR_113306		Approved			Q86X51	OTTHUMG00000187481	ENST00000342995.2:c.1117G>C	X.37:g.51150985G>C	ENSP00000342680:p.Gly373Arg						p.G373R	NM_203407	NP_981952					1	1219	+									Missense_Mutation	SNP	ENST00000342995.2	37	c.1117G>C		.	.	.	.	.	.	.	.	.	.	g	11.82	1.752864	0.31046	.	.	ENSG00000187690	ENST00000342995	T	0.56275	0.47	3.01	0.717	0.18196	.	0.932998	0.08771	N	0.896182	T	0.39759	0.1090	.	.	.	0.09310	N	1	P	0.41784	0.762	B	0.41135	0.348	T	0.36089	-0.9762	9	0.62326	D	0.03	-1.065	0.5372	0.00638	0.1876:0.2339:0.3384:0.2401	.	373	Q86X51	CX067_HUMAN	R	373	ENSP00000342680:G373R	ENSP00000342680:G373R	G	+	1	0	CXorf67	51167725	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.929000	0.03976	0.086000	0.17137	-0.223000	0.12442	GGG		0.602	CXorf67-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_203407	
SSX7	280658	broad.mit.edu	37	X	52677324	52677324	+	Silent	SNP	A	A	G			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chrX:52677324A>G	ENST00000298181.5	-	6	611	c.453T>C	c.(451-453)atT>atC	p.I151I		NM_173358.2	NP_775494.1	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7	151					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					ATGTCTTGTTAATCTTCTCAG	0.512																																						uc004dqx.1																			0				skin(1)	1						c.(451-453)ATT>ATC		synovial sarcoma, X breakpoint 7							175.0	150.0	158.0					X																	52677324		2203	4300	6503	SO:0001819	synonymous_variant	280658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:52677324A>G	BK000687	CCDS14343.1	Xp11.23	2011-02-10			ENSG00000187754	ENSG00000187754			19653	protein-coding gene	gene with protein product		300542				12216073	Standard	NM_173358		Approved		uc004dqx.1	Q7RTT5	OTTHUMG00000021572	ENST00000298181.5:c.453T>C	X.37:g.52677324A>G							p.I151I	NM_173358	NP_775494	Q7RTT5	SSX7_HUMAN			6	612	-	Ovarian(276;0.236)		151						Silent	SNP	ENST00000298181.5	37	c.453T>C	CCDS14343.1																																																																																				0.512	SSX7-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056671.1	NM_173358	
KIAA2022	340533	broad.mit.edu	37	X	73963402	73963402	+	Silent	SNP	C	C	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chrX:73963402C>T	ENST00000055682.6	-	3	1601	c.990G>A	c.(988-990)caG>caA	p.Q330Q		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	330					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GGGCATCTTCCTGCATCAAAA	0.448																																						uc004eby.2																			0				ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(988-990)CAG>CAA		hypothetical protein LOC340533							80.0	68.0	72.0					X																	73963402		2203	4300	6503	SO:0001819	synonymous_variant	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73963402C>T		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.990G>A	X.37:g.73963402C>T							p.Q330Q	NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN			3	1607	-			330					A7YY87|Q5JUX9|Q8IVE9	Silent	SNP	ENST00000055682.6	37	c.990G>A	CCDS35337.1																																																																																				0.448	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537	
PAK3	5063	broad.mit.edu	37	X	110406206	110406208	+	In_Frame_Del	DEL	GAA	GAA	-	rs374572591		TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chrX:110406206_110406208delGAA	ENST00000372010.1	+	10	1019_1021	c.577_579delGAA	c.(577-579)gaadel	p.E197del	PAK3_ENST00000360648.4_In_Frame_Del_p.E218del|PAK3_ENST00000417227.1_In_Frame_Del_p.E203del|PAK3_ENST00000425146.1_In_Frame_Del_p.E182del|PAK3_ENST00000519681.1_In_Frame_Del_p.E203del|PAK3_ENST00000372007.5_In_Frame_Del_p.E182del|PAK3_ENST00000262836.4_In_Frame_Del_p.E197del|PAK3_ENST00000518291.1_In_Frame_Del_p.E218del|PAK3_ENST00000446737.1_In_Frame_Del_p.E182del			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	197	Linker.|Poly-Glu.				activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						agatgaagaggaagaagaagaag	0.394										TSP Lung(19;0.15)																												uc004epa.2																			0				lung(6)|ovary(3)|large_intestine(1)	10						c.(577-579)GAAdel		p21-activated kinase 3 isoform d																																				SO:0001651	inframe_deletion	5063				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	g.chrX:110406206_110406208delGAA	AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"""mental retardation, X-linked 47"", ""p21 (CDKN1A)-activated kinase 3"""	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.577_579delGAA	X.37:g.110406215_110406217delGAA	ENSP00000361080:p.Glu197del	TSP Lung(19;0.15)				PAK3_uc010npt.1_In_Frame_Del_p.E182del|PAK3_uc010npu.1_In_Frame_Del_p.E182del|PAK3_uc004eoy.1_5'UTR|PAK3_uc004eoz.2_In_Frame_Del_p.E182del|PAK3_uc011mst.1_RNA|PAK3_uc010npv.1_In_Frame_Del_p.E218del|PAK3_uc010npw.1_In_Frame_Del_p.E203del	p.E197del	NM_001128173	NP_001121645	O75914	PAK3_HUMAN			6	604_606	+			197			Linker.		A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	In_Frame_Del	DEL	ENST00000372010.1	37	c.577_579delGAA	CCDS48153.1																																																																																				0.394	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578	
KIAA1210	57481	broad.mit.edu	37	X	118220581	118220581	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chrX:118220581C>T	ENST00000402510.2	-	11	4611	c.4612G>A	c.(4612-4614)Gtt>Att	p.V1538I		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1538										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TTATCTGCAACGTAAGATATT	0.507																																						uc004era.3																			0				ovary(4)|skin(1)	5						c.(4612-4614)GTT>ATT		hypothetical protein LOC57481							89.0	81.0	84.0					X																	118220581		1913	4109	6022	SO:0001583	missense	57481							g.chrX:118220581C>T	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.4612G>A	X.37:g.118220581C>T	ENSP00000384670:p.Val1538Ile						p.V1538I	NM_020721	NP_065772	Q9ULL0	K1210_HUMAN			11	4612	-			1538					B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	c.4612G>A	CCDS48156.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.068|2.068	-0.413739|-0.413739	0.04799|0.04799	.|.	.|.	ENSG00000248857|ENSG00000250423	ENST00000440399|ENST00000402510	.|T	.|0.09723	.|2.95	4.95|4.95	-9.89|-9.89	0.00464|0.00464	.|.	.|.	.|.	.|.	.|.	T|T	0.05547|0.05547	0.0146|0.0146	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	1|1	.|B	.|0.24675	.|0.109	.|B	.|0.09377	.|0.004	T|T	0.24835|0.24835	-1.0149|-1.0149	5|9	.|0.32370	.|T	.|0.25	.|.	0.9765|0.9765	0.01426|0.01426	0.1936:0.33:0.1558:0.3206|0.1936:0.33:0.1558:0.3206	.|.	.|1538	.|Q9ULL0	.|K1210_HUMAN	H|I	944|1538	.|ENSP00000384670:V1538I	.|ENSP00000384670:V1538I	R|V	-|-	2|1	0|0	KIAA1210|RP13-347D8.6	118104609|118104609	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-2.022000|-2.022000	0.01439|0.01439	-2.348000|-2.348000	0.00619|0.00619	-2.931000|-2.931000	0.00088|0.00088	CGT|GTT		0.507	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721	
DCAF12L1	139170	broad.mit.edu	37	X	125686304	125686304	+	Silent	SNP	C	C	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chrX:125686304C>T	ENST00000371126.1	-	1	530	c.288G>A	c.(286-288)acG>acA	p.T96T		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	96										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CCTTGTTGACCGTGCCCAGCT	0.657																																						uc004eul.2																			0				skin(3)|ovary(1)	4						c.(286-288)ACG>ACA		DDB1 and CUL4 associated factor 12-like 1							94.0	72.0	80.0					X																	125686304		2203	4300	6503	SO:0001819	synonymous_variant	139170							g.chrX:125686304C>T	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.288G>A	X.37:g.125686304C>T							p.T96T	NM_178470	NP_848565	Q5VU92	DC121_HUMAN			1	539	-			96					Q8IYK3	Silent	SNP	ENST00000371126.1	37	c.288G>A	CCDS14610.1																																																																																				0.657	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470	
USP26	83844	broad.mit.edu	37	X	132160788	132160788	+	Frame_Shift_Del	DEL	A	A	-			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chrX:132160788delA	ENST00000511190.1	-	6	1930	c.1461delT	c.(1459-1461)tttfs	p.F487fs	USP26_ENST00000406273.1_Frame_Shift_Del_p.F487fs|USP26_ENST00000370832.1_Frame_Shift_Del_p.F487fs	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	487	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.G488fs*6(2)|p.F487fs*7(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					CTTCTGCTCCAAAAAAAAGAT	0.383																																					NSCLC(104;342 1621 36940 47097 52632)	uc010nrm.1																			3	Insertion - Frameshift(3)	p.G488fs*6(2)|p.F487fs*7(1)	central_nervous_system(3)	lung(3)|central_nervous_system(3)|kidney(1)|liver(1)	8						c.(1459-1461)TTTfs		ubiquitin-specific protease 26							122.0	123.0	122.0					X																	132160788		2203	4300	6503	SO:0001589	frameshift_variant	83844				protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chrX:132160788delA	AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"""Ubiquitin-specific peptidases"""	13485	protein-coding gene	gene with protein product		300309	"""ubiquitin specific protease 26"""			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.1461delT	X.37:g.132160788delA	ENSP00000423390:p.Phe487fs					USP26_uc011mvf.1_Frame_Shift_Del_p.F487fs	p.F487fs	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN			6	1931	-	Acute lymphoblastic leukemia(192;0.000127)		487					B9WRT6|Q5H9H4	Frame_Shift_Del	DEL	ENST00000511190.1	37	c.1461delT	CCDS14635.1																																																																																				0.383	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1	NM_031907	
MAGEA10	4109	broad.mit.edu	37	X	151303934	151303934	+	Silent	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chrX:151303934G>A	ENST00000370323.4	-	4	475	c.159C>T	c.(157-159)ccC>ccT	p.P53P	MAGEA10_ENST00000244096.3_Silent_p.P53P|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	53						nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					aggaggaggagggaaaagagg	0.562																																						uc004ffk.2																			0					0						c.(157-159)CCC>CCT		melanoma antigen family A, 10							60.0	64.0	63.0					X																	151303934		2203	4300	6503	SO:0001819	synonymous_variant	4109							g.chrX:151303934G>A		CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"""MAGE-10 antigen"", ""melanoma-associated antigen 10"", ""cancer/testis antigen family 1, member 10"""	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.159C>T	X.37:g.151303934G>A						MAGEA10_uc004ffl.2_Silent_p.P53P	p.P53P	NM_001011543	NP_001011543	P43363	MAGAA_HUMAN			5	567	-	Acute lymphoblastic leukemia(192;6.56e-05)		53						Silent	SNP	ENST00000370323.4	37	c.159C>T	CCDS14705.1																																																																																				0.562	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060916.3	NM_021048	
RENBP	5973	broad.mit.edu	37	X	153209567	153209567	+	Missense_Mutation	SNP	C	C	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chrX:153209567C>A	ENST00000393700.3	-	3	258	c.178G>T	c.(178-180)Gat>Tat	p.D60Y	RENBP_ENST00000462086.1_5'Flank|RENBP_ENST00000412763.1_Missense_Mutation_p.D60Y|RENBP_ENST00000369997.3_Intron	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	60					N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)|regulation of blood pressure (GO:0008217)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|endopeptidase inhibitor activity (GO:0004866)|N-acylglucosamine 2-epimerase activity (GO:0050121)			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	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)				N-Acetyl-D-glucosamine(DB00141)	TTGAGGTCATCATACACCCGC	0.632																																						uc004fjo.1																			0				ovary(1)|pancreas(1)	2						c.(178-180)GAT>TAT		renin binding protein	N-Acetyl-D-glucosamine(DB00141)						52.0	45.0	47.0					X																	153209567		2203	4300	6503	SO:0001583	missense	5973				mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity	g.chrX:153209567C>A		CCDS14738.2	Xq28	2013-09-23	2001-11-28		ENSG00000102032	ENSG00000102032			9959	protein-coding gene	gene with protein product	"""N-acylglucosamine 2-epimerase"", ""GlcNAc 2-epimerase"", ""N-acetyl-D-glucosamine 2-epimerase"""	312420	"""renin-binding protein"""			1618798	Standard	NM_002910		Approved	RNBP, RBP	uc004fjo.2	P51606	OTTHUMG00000024224	ENST00000393700.3:c.178G>T	X.37:g.153209567C>A	ENSP00000377303:p.Asp60Tyr					RENBP_uc011mzh.1_Missense_Mutation_p.D60Y	p.D60Y	NM_002910	NP_002901	P51606	RENBP_HUMAN			3	348	-	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)		60					B4DNZ3|Q96BI6	Missense_Mutation	SNP	ENST00000393700.3	37	c.178G>T	CCDS14738.2	.	.	.	.	.	.	.	.	.	.	C	8.116	0.779821	0.16120	.	.	ENSG00000102032	ENST00000393700;ENST00000412763	T;T	0.36699	1.29;1.24	4.86	3.99	0.46301	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);	0.000000	0.85682	D	0.000000	T	0.66396	0.2785	M	0.92833	3.35	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.72613	-0.4240	10	0.87932	D	0	-24.4029	11.2683	0.49122	0.0:0.9063:0.0:0.0937	.	60;60	P51606-2;P51606	.;RENBP_HUMAN	Y	60	ENSP00000377303:D60Y;ENSP00000387811:D60Y	ENSP00000377303:D60Y	D	-	1	0	RENBP	152862761	1.000000	0.71417	0.026000	0.17262	0.140000	0.21249	4.947000	0.63583	0.831000	0.34780	0.513000	0.50165	GAT		0.632	RENBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061103.3	NM_002910	
