#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
DBT	1629	broad.mit.edu	37	1	100706430	100706430	+	Missense_Mutation	SNP	C	C	T	rs533707792		TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr1:100706430C>T	ENST00000370132.4	-	2	75	c.62G>A	c.(61-63)cGc>cAc	p.R21H	DBT_ENST00000370131.3_Missense_Mutation_p.R21H	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	21					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity (GO:0043754)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		TTGAAAATAGCGAACACAAAT	0.313													C|||	1	0.000199681	0.0	0.0	5008	,	,		16853	0.0		0.0	False		,,,				2504	0.001					uc001dta.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19						c.(61-63)cGc>cAc		Homo sapiens dihydrolipoamide branched chain transacylase E2 (DBT), nuclear gene encoding mitochondrial protein, mRNA.							91.0	91.0	91.0					1																	100706430		2203	4296	6499	SO:0001583	missense	1629				branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding	g.chr1:100706430C>T	BC016675	CCDS767.1	1p31	2008-02-05	2004-11-15		ENSG00000137992	ENSG00000137992			2698	protein-coding gene	gene with protein product		248610	"""dihydrolipoamide branched chain transacylase (E2 component of branched chain keto acid dehydrogenase complex; maple syrup urine disease)"""			1420314, 1429740	Standard	NM_001918		Approved		uc001dta.3	P11182	OTTHUMG00000010921	ENST00000370132.4:c.62G>A	1.37:g.100706430C>T	ENSP00000359151:p.Arg21His					DBT_uc010oug.2_5'UTR|DBT_uc021oqo.1_Missense_Mutation_p.R21H	p.R21H	NM_001918	NP_001909	P11182	ODB2_HUMAN		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)	1	95	-		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)	21					B2R811|Q5VVL8	Missense_Mutation	SNP	ENST00000370132.4	37	c.62G>A	CCDS767.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.701243	0.30142	.	.	ENSG00000137992	ENST00000370132;ENST00000370131	T;T	0.32988	1.44;1.43	5.38	0.74	0.18330	.	0.292012	0.39020	N	0.001484	T	0.04272	0.0118	N	0.11560	0.145	0.29612	N	0.846851	B	0.10296	0.003	B	0.04013	0.001	T	0.31752	-0.9932	10	0.41790	T	0.15	-0.5706	3.3097	0.07013	0.0:0.3619:0.2096:0.4285	.	21	P11182	ODB2_HUMAN	H	21	ENSP00000359151:R21H;ENSP00000359150:R21H	ENSP00000359150:R21H	R	-	2	0	DBT	100479018	0.968000	0.33430	0.987000	0.45799	0.754000	0.42855	0.368000	0.20399	0.327000	0.23409	0.655000	0.94253	CGC		0.313	DBT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030101.2	NM_001918	
ANP32E	81611	broad.mit.edu	37	1	150202934	150202934	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr1:150202934A>G	ENST00000314136.8	-	3	668	c.299T>C	c.(298-300)aTa>aCa	p.I100T	ANP32E_ENST00000436748.2_Intron|ANP32E_ENST00000369119.3_Missense_Mutation_p.I52T|ANP32E_ENST00000369116.4_Intron|ANP32E_ENST00000533654.1_Missense_Mutation_p.I100T|ANP32E_ENST00000369114.5_Missense_Mutation_p.I100T|ANP32E_ENST00000369115.2_Intron	NM_001136478.2|NM_001280559.1|NM_030920.3	NP_001129950.1|NP_001267488.1|NP_112182.1	Q9BTT0	AN32E_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member E	100					histone exchange (GO:0043486)|negative regulation of catalytic activity (GO:0043086)	cytoplasmic membrane-bounded vesicle (GO:0016023)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	histone binding (GO:0042393)|phosphatase inhibitor activity (GO:0019212)			breast(3)|endometrium(3)|lung(7)|skin(1)|urinary_tract(1)	15	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGATCTTTTATTTTGTTTCC	0.363																																						uc001etw.3																			0				breast(3)|endometrium(3)|lung(7)|skin(1)|urinary_tract(1)	15						c.(298-300)aTa>aCa		Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member E (ANP32E), transcript variant 1, mRNA.							105.0	98.0	100.0					1																	150202934		2203	4300	6503	SO:0001583	missense	81611					cytoplasmic membrane-bounded vesicle|nucleus	phosphatase inhibitor activity	g.chr1:150202934A>G	AK092672	CCDS946.1, CCDS44214.1, CCDS44215.1, CCDS60245.1	1q22	2008-02-05			ENSG00000143401	ENSG00000143401		"""ANP32 acidic nuclear phosphoproteins"""	16673	protein-coding gene	gene with protein product		609611				12438741	Standard	NM_030920		Approved	LANPL, MGC5350, LANP-L	uc001etw.3	Q9BTT0	OTTHUMG00000012547	ENST00000314136.8:c.299T>C	1.37:g.150202934A>G	ENSP00000324074:p.Ile100Thr					ANP32E_uc010pbu.2_Missense_Mutation_p.I52T|ANP32E_uc010pbv.2_Intron|ANP32E_uc001etv.4_Missense_Mutation_p.I100T|ANP32E_uc010pbw.1_Missense_Mutation_p.I100T	p.I100T	NM_030920	NP_001129951	Q9BTT0	AN32E_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	669	-	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		100					B4E0I6|E9PEA6|Q5TB18|Q5TB20|Q8N1S4|Q8WWW9	Missense_Mutation	SNP	ENST00000314136.8	37	c.299T>C	CCDS946.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.168665	0.78339	.	.	ENSG00000143401	ENST00000314136;ENST00000369119;ENST00000369114;ENST00000533654;ENST00000532744	T;T;T;T;T	0.39056	1.99;1.99;1.1;1.1;1.99	6.02	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.73674	0.3617	H	0.99498	4.595	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.83886	0.0282	10	0.87932	D	0	.	11.5214	0.50553	0.9303:0.0:0.0697:0.0	.	100;100;52	E9PLC4;Q9BTT0;Q5TB20	.;AN32E_HUMAN;.	T	100;52;100;100;50	ENSP00000324074:I100T;ENSP00000358115:I52T;ENSP00000358110:I100T;ENSP00000435215:I100T;ENSP00000432684:I50T	ENSP00000324074:I100T	I	-	2	0	ANP32E	148469558	1.000000	0.71417	0.988000	0.46212	0.955000	0.61496	9.107000	0.94261	1.093000	0.41377	0.448000	0.29417	ATA		0.363	ANP32E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035056.1	NM_030920	
HMCN1	83872	broad.mit.edu	37	1	186084452	186084452	+	Silent	SNP	C	C	T			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr1:186084452C>T	ENST00000271588.4	+	75	11696	c.11467C>T	c.(11467-11469)Ctg>Ttg	p.L3823L	HMCN1_ENST00000367492.2_Silent_p.L3823L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3823	Ig-like C2-type 37.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCAAACTACTCTGGCTTGTGA	0.398																																						uc001grq.1																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(11467-11469)Ctg>Ttg		Homo sapiens hemicentin 1 (HMCN1), mRNA.							152.0	141.0	145.0					1																	186084452		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186084452C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.11467C>T	1.37:g.186084452C>T						MIR548F1_uc021pgf.1_Intron	p.L3823L	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			74	11696	+			3823			Ig-like C2-type 37.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.11467C>T	CCDS30956.1																																																																																				0.398	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
SMYD2	56950	broad.mit.edu	37	1	214505455	214505455	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr1:214505455C>A	ENST00000366957.5	+	10	1054	c.1032C>A	c.(1030-1032)taC>taA	p.Y344*	SMYD2_ENST00000415093.2_Intron|SMYD2_ENST00000491455.1_3'UTR	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN	SET and MYND domain containing 2	344					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|RNA polymerase II core binding (GO:0000993)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		ACATGATGTACCAGGCCATGG	0.517											OREG0012979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc021pix.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(1030-1032)taC>taA		Homo sapiens SET and MYND domain containing 2 (SMYD2), mRNA.							177.0	128.0	145.0					1																	214505455		2203	4300	6503	SO:0001587	stop_gained	56950				negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	cytosol|nucleus	histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding	g.chr1:214505455C>A	AF226053	CCDS31022.1	1q32.3	2011-07-01			ENSG00000143499	ENSG00000143499		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20982	protein-coding gene	gene with protein product		610663					Standard	NM_020197		Approved	HSKM-B, ZMYND14, KMT3C	uc021pix.1	Q9NRG4	OTTHUMG00000037066	ENST00000366957.5:c.1032C>A	1.37:g.214505455C>A	ENSP00000355924:p.Tyr344*		OREG0012979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2221	SMYD2_uc009xdl.1_Intron	p.Y344*	NM_020197	NP_064582	Q9NRG4	SMYD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)	9	1065	+			344					B2R9P9|I6L9H7|Q4V765|Q5VSH9|Q96AI4	Nonsense_Mutation	SNP	ENST00000366957.5	37	c.1032C>A	CCDS31022.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.040074	0.93630	.	.	ENSG00000143499	ENST00000366957;ENST00000416415	.	.	.	5.96	5.06	0.68205	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-13.1438	11.2434	0.48982	0.0:0.8108:0.0:0.1892	.	.	.	.	X	344;63	.	ENSP00000355924:Y344X	Y	+	3	2	SMYD2	212572078	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.881000	0.28173	1.537000	0.49254	0.655000	0.94253	TAC		0.517	SMYD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089998.1	NM_020197	
SLC39A12	221074	broad.mit.edu	37	10	18270258	18270258	+	Silent	SNP	G	G	A			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr10:18270258G>A	ENST00000377369.2	+	6	1215	c.942G>A	c.(940-942)agG>agA	p.R314R	SLC39A12_ENST00000539911.1_Silent_p.R180R|SLC39A12_ENST00000377374.4_Silent_p.R314R|SLC39A12_ENST00000377371.3_Silent_p.R314R	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	314					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TCTCTGCTAGGCAGCTGGTGG	0.448																																						uc001ipo.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(940-942)agG>agA		Homo sapiens solute carrier family 39 (zinc transporter), member 12 (SLC39A12), transcript variant 1, mRNA.							90.0	89.0	89.0					10																	18270258		2203	4300	6503	SO:0001819	synonymous_variant	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18270258G>A		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.942G>A	10.37:g.18270258G>A						SLC39A12_uc001ipn.2_Silent_p.R314R|SLC39A12_uc001ipp.2_Silent_p.R314R|SLC39A12_uc010qck.1_Silent_p.R180R	p.R314R	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN			5	1215	+			314					B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Silent	SNP	ENST00000377369.2	37	c.942G>A	CCDS44362.1																																																																																				0.448	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725	
FAM196A	642938	broad.mit.edu	37	10	128973691	128973691	+	Silent	SNP	C	C	T	rs139302074	byFrequency	TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr10:128973691C>T	ENST00000522781.1	-	4	1524	c.969G>A	c.(967-969)tcG>tcA	p.S323S	DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Silent_p.S323S	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	323										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TGTGAGTCTGCGACGGCTGCT	0.642													C|||	3	0.000599042	0.0023	0.0	5008	,	,		16306	0.0		0.0	False		,,,				2504	0.0					uc001lju.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(967-969)tcG>tcA		Homo sapiens family with sequence similarity 196, member A (FAM196A), mRNA.		C	,	5,4401	8.1+/-20.4	0,5,2198	73.0	77.0	76.0		969,	-0.7	0.0	10	dbSNP_134	76	0,8598		0,0,4299	no	coding-synonymous,intron	DOCK1,FAM196A	NM_001039762.2,NM_001380.3	,	0,5,6497	TT,TC,CC		0.0,0.1135,0.0384	,	323/480,	128973691	5,12999	2203	4299	6502	SO:0001819	synonymous_variant	642938							g.chr10:128973691C>T		CCDS31312.1	10q26.2	2009-09-11	2009-09-11	2009-09-11		ENSG00000188916			33859	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 141"""	C10orf141			Standard	NM_001039762		Approved	FLJ45557	uc001ljv.1	Q6ZSG2		ENST00000522781.1:c.969G>A	10.37:g.128973691C>T						DOCK1_uc001ljt.3_Intron|DOCK1_uc010qun.2_Intron|FAM196A_uc010quo.1_Silent_p.S323S|FAM196A_uc001ljv.1_Silent_p.S323S|FAM196A_uc009yap.1_Silent_p.S323S	p.S323S	NM_001039762	NP_001034851	Q6ZSG2	F196A_HUMAN			0	1010	-			323					B2RNT4|B7ZME7	Silent	SNP	ENST00000522781.1	37	c.969G>A	CCDS31312.1																																																																																				0.642	FAM196A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050978.2	NM_001039762	
MRPL23	6150	broad.mit.edu	37	11	1973439	1973439	+	Splice_Site	SNP	G	G	C			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr11:1973439G>C	ENST00000397298.3	+	3	308	c.223G>C	c.(223-225)Ggc>Cgc	p.G75R	MRPL23_ENST00000381514.3_Splice_Site_p.G75R|MRPL23_ENST00000381519.1_Splice_Site_p.G75R|MRPL23_ENST00000397294.3_Splice_Site_p.G75R|MRPL23_ENST00000397297.3_Splice_Site_p.G75R	NM_021134.3	NP_066957.3	Q16540	RM23_HUMAN	mitochondrial ribosomal protein L23	75					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(1)|ovary(1)	4		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)		GGTGCAGCATGGTGAGTGCCC	0.602																																						uc001lux.3																			0				large_intestine(2)|lung(1)|ovary(1)	4						c.e3+1		Homo sapiens mitochondrial ribosomal protein L23 (MRPL23), nuclear gene encoding mitochondrial protein, mRNA.							66.0	55.0	59.0					11																	1973439		2199	4299	6498	SO:0001630	splice_region_variant	6150				translation	mitochondrial large ribosomal subunit	nucleotide binding|RNA binding|structural constituent of ribosome	g.chr11:1973439G>C	AB051340	CCDS31336.1	11p15.5	2012-09-13			ENSG00000214026	ENSG00000214026		"""Mitochondrial ribosomal proteins / large subunits"""	10322	protein-coding gene	gene with protein product		600789		RPL23L		8541832	Standard	NM_021134		Approved	L23MRP	uc001lux.3	Q16540	OTTHUMG00000012476	ENST00000397298.3:c.223+1G>C	11.37:g.1973439G>C							p.G75_splice	NM_021134	NP_066957	Q16540	RM23_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)	3	314	+		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	75					A8MT29|Q96Q71	Missense_Mutation	SNP	ENST00000397298.3	37	c.223_splice	CCDS31336.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.999719	0.54147	.	.	ENSG00000214026	ENST00000397298;ENST00000381519;ENST00000397297;ENST00000381514;ENST00000397294	T;T;T;T;T	0.52754	1.73;1.73;0.65;1.73;0.65	3.87	3.87	0.44632	Ribosomal protein L23/L15e (1);Nucleotide-binding, alpha-beta plait (1);	0.065024	0.64402	U	0.000009	T	0.76069	0.3936	M	0.93241	3.395	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.83816	0.0244	10	0.62326	D	0.03	.	16.3905	0.83533	0.0:0.0:1.0:0.0	.	75	Q16540	RM23_HUMAN	R	75	ENSP00000380466:G75R;ENSP00000370930:G75R;ENSP00000380465:G75R;ENSP00000370925:G75R;ENSP00000380462:G75R	ENSP00000370925:G75R	G	+	1	0	MRPL23	1930015	1.000000	0.71417	0.945000	0.38365	0.011000	0.07611	5.434000	0.66526	2.173000	0.68751	0.491000	0.48974	GGC		0.602	MRPL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034765.2	NM_021134	Missense_Mutation
ANO5	203859	broad.mit.edu	37	11	22239813	22239813	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr11:22239813T>G	ENST00000324559.8	+	4	477	c.160T>G	c.(160-162)Ttc>Gtc	p.F54V		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	54					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATTCAATTTGTTCCTGAGGCG	0.403																																						uc001mqi.2																			0		p.L53F(1)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(160-162)Ttc>Gtc		Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA.							134.0	125.0	128.0					11																	22239813		2203	4300	6503	SO:0001583	missense	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22239813T>G	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.160T>G	11.37:g.22239813T>G	ENSP00000315371:p.Phe54Val					ANO5_uc001mqj.2_Missense_Mutation_p.F53V	p.F54V	NM_213599	NP_998764	Q75V66	ANO5_HUMAN			3	477	+			54						Missense_Mutation	SNP	ENST00000324559.8	37	c.160T>G	CCDS31444.1	.	.	.	.	.	.	.	.	.	.	T	16.26	3.072340	0.55646	.	.	ENSG00000171714	ENST00000324559	T	0.70986	-0.53	5.87	5.87	0.94306	.	0.188639	0.48286	D	0.000187	T	0.79411	0.4441	L	0.54323	1.7	0.42398	D	0.992557	D	0.76494	0.999	D	0.78314	0.991	T	0.74760	-0.3556	10	0.12430	T	0.62	.	16.2813	0.82687	0.0:0.0:0.0:1.0	.	54	Q75V66	ANO5_HUMAN	V	54	ENSP00000315371:F54V	ENSP00000315371:F54V	F	+	1	0	ANO5	22196389	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.195000	0.65131	2.244000	0.73946	0.533000	0.62120	TTC		0.403	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599	
OR5D16	390144	broad.mit.edu	37	11	55606889	55606889	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr11:55606889C>A	ENST00000378396.1	+	1	662	c.662C>A	c.(661-663)gCa>gAa	p.A221E		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	221						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)				ACATCTTATGCATTCATCATT	0.468																																						uc010rio.2																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(661-663)gCa>gAa		Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA.							204.0	167.0	179.0					11																	55606889		2201	4296	6497	SO:0001583	missense	390144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55606889C>A	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.662C>A	11.37:g.55606889C>A	ENSP00000367649:p.Ala221Glu						p.A221E	NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN			0	662	+		all_epithelial(135;0.208)	221					Q6IF65|Q96RB4	Missense_Mutation	SNP	ENST00000378396.1	37	c.662C>A	CCDS31512.1	.	.	.	.	.	.	.	.	.	.	.	15.81	2.943313	0.53079	.	.	ENSG00000205029	ENST00000378396	T	0.00193	8.58	4.47	-1.44	0.08856	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00468	0.0015	M	0.89715	3.055	0.09310	N	1	P	0.41929	0.765	P	0.57911	0.829	T	0.37753	-0.9692	9	0.66056	D	0.02	0.0276	2.8968	0.05693	0.1328:0.0777:0.2757:0.5138	.	221	Q8NGK9	OR5DG_HUMAN	E	221	ENSP00000367649:A221E	ENSP00000367649:A221E	A	+	2	0	OR5D16	55363465	0.000000	0.05858	0.000000	0.03702	0.382000	0.30200	-0.914000	0.04038	-0.417000	0.07461	-0.463000	0.05309	GCA		0.468	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496	
OR5D16	390144	broad.mit.edu	37	11	55606937	55606937	+	Missense_Mutation	SNP	G	G	A	rs148616685		TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr11:55606937G>A	ENST00000378396.1	+	1	710	c.710G>A	c.(709-711)cGc>cAc	p.R237H		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	237						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)				AGTGGGCACCGCAAAGTCTTC	0.488													-|||	1	0.000199681	0.0	0.0014	5008	,	,		18198	0.0		0.0	False		,,,				2504	0.0					uc010rio.2																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(709-711)cGc>cAc		Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA.		G	HIS/ARG	0,4402		0,0,2201	157.0	132.0	141.0		710	-1.2	0.0	11	dbSNP_134	141	1,8591		0,1,4295	no	missense	OR5D16	NM_001005496.1	29	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	benign	237/329	55606937	1,12993	2201	4296	6497	SO:0001583	missense	390144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55606937G>A	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.710G>A	11.37:g.55606937G>A	ENSP00000367649:p.Arg237His						p.R237H	NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN			0	710	+		all_epithelial(135;0.208)	237					Q6IF65|Q96RB4	Missense_Mutation	SNP	ENST00000378396.1	37	c.710G>A	CCDS31512.1	.	.	.	.	.	.	.	.	.	.	.	0.243	-1.011894	0.02095	0.0	1.16E-4	ENSG00000205029	ENST00000378396	T	0.00034	8.87	4.0	-1.2	0.09554	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00073	0.0002	N	0.11892	0.195	0.09310	N	1	B	0.25235	0.121	B	0.29440	0.102	T	0.01298	-1.1392	9	0.10636	T	0.68	-0.4145	4.9223	0.13876	0.4668:0.0:0.3947:0.1386	.	237	Q8NGK9	OR5DG_HUMAN	H	237	ENSP00000367649:R237H	ENSP00000367649:R237H	R	+	2	0	OR5D16	55363513	0.000000	0.05858	0.000000	0.03702	0.321000	0.28281	-2.847000	0.00734	-0.526000	0.06383	-0.430000	0.05897	CGC		0.488	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496	
OR5M3	219482	broad.mit.edu	37	11	56237927	56237927	+	Missense_Mutation	SNP	G	G	A	rs147367874	byFrequency	TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr11:56237927G>A	ENST00000312240.2	-	1	87	c.47C>T	c.(46-48)aCg>aTg	p.T16M		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	16						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					TCGACGGCTCGTTAGCCCCAA	0.383													G|||	19	0.00379393	0.0136	0.0	5008	,	,		17226	0.0		0.001	False		,,,				2504	0.0					uc010rjk.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37						c.(46-48)aCg>aTg		Homo sapiens olfactory receptor, family 5, subfamily M, member 3 (OR5M3), mRNA.		G	MET/THR	64,4338	59.9+/-96.7	1,62,2138	70.0	62.0	64.0		47	5.0	0.2	11	dbSNP_134	64	4,8586	3.7+/-12.6	0,4,4291	yes	missense	OR5M3	NM_001004742.2	81	1,66,6429	AA,AG,GG		0.0466,1.4539,0.5234	probably-damaging	16/308	56237927	68,12924	2201	4295	6496	SO:0001583	missense	219482				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56237927G>A	AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"""GPCR / Class A : Olfactory receptors"""	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.47C>T	11.37:g.56237927G>A	ENSP00000312208:p.Thr16Met					OR8U8_uc001nit.2_Intron	p.T16M	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN			0	88	-	Esophageal squamous(21;0.00448)		16					B2RNM7|Q6IEW4|Q96RC0	Missense_Mutation	SNP	ENST00000312240.2	37	c.47C>T	CCDS31532.1	6	0.0027472527472527475	5	0.01016260162601626	0	0.0	0	0.0	1	0.0013192612137203166	G	11.30	1.599435	0.28534	0.014539	4.66E-4	ENSG00000174937	ENST00000312240	T	0.00441	7.41	5.0	5.0	0.66597	.	0.000000	0.42821	D	0.000647	T	0.00998	0.0033	M	0.85710	2.77	0.09310	N	1	D	0.89917	1.0	D	0.76071	0.987	T	0.23797	-1.0178	10	0.87932	D	0	-16.6775	15.7991	0.78436	0.0:0.0:1.0:0.0	.	16	Q8NGP4	OR5M3_HUMAN	M	16	ENSP00000312208:T16M	ENSP00000312208:T16M	T	-	2	0	OR5M3	55994503	0.011000	0.17503	0.166000	0.22797	0.070000	0.16714	1.577000	0.36515	2.313000	0.78055	0.478000	0.44815	ACG		0.383	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	NM_001004742	
ANO1	55107	broad.mit.edu	37	11	69949227	69949227	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr11:69949227G>A	ENST00000355303.5	+	3	802	c.497G>A	c.(496-498)tGc>tAc	p.C166Y	ANO1_ENST00000538023.1_Missense_Mutation_p.C166Y|ANO1_ENST00000530676.1_Missense_Mutation_p.C50Y|ANO1_ENST00000398543.2_Missense_Mutation_p.C50Y|ANO1_ENST00000316296.5_Missense_Mutation_p.C138Y	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	166					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	AACGTGCTGTGCAGAGAGGCC	0.532																																						uc001opj.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						c.(496-498)tGc>tAc		Homo sapiens anoctamin 1, calcium activated chloride channel (ANO1), transcript variant 1, mRNA.							84.0	90.0	88.0					11																	69949227		2026	4164	6190	SO:0001583	missense	55107				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity	g.chr11:69949227G>A	BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	21625	protein-coding gene	gene with protein product		610108	"""oral cancer overexpressed 2"", ""transmembrane protein 16A"""	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.497G>A	11.37:g.69949227G>A	ENSP00000347454:p.Cys166Tyr					ANO1_uc001opl.2_Non-coding_Transcript|ANO1_uc001opk.1_Missense_Mutation_p.C138Y	p.C166Y	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN			2	802	+			166					A8KAM3|Q8IYY8|Q8N7V3	Missense_Mutation	SNP	ENST00000355303.5	37	c.497G>A	CCDS44663.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.53|19.53	3.845561|3.845561	0.71603|0.71603	.|.	.|.	ENSG00000131620|ENSG00000131620	ENST00000530480|ENST00000355303;ENST00000538023;ENST00000398543;ENST00000316296;ENST00000530676	.|T;T;T;T;T	.|0.68025	.|-0.3;-0.3;-0.3;-0.3;-0.3	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.79293|0.79293	0.4421|0.4421	L|L	0.58101|0.58101	1.795|1.795	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.995	.|D;P	.|0.85130	.|0.997;0.862	T|T	0.78244|0.78244	-0.2279|-0.2279	5|9	.|.	.|.	.|.	.|.	17.617|17.617	0.88070|0.88070	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|138;166	.|Q5XXA6-3;Q5XXA6	.|.;ANO1_HUMAN	T|Y	9|166;166;50;138;50	.|ENSP00000347454:C166Y;ENSP00000444689:C166Y;ENSP00000381551:C50Y;ENSP00000319477:C138Y;ENSP00000435797:C50Y	.|.	A|C	+|+	1|2	0|0	ANO1|ANO1	69626875|69626875	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.543000|0.543000	0.35085|0.35085	8.978000|8.978000	0.93450|0.93450	2.405000|2.405000	0.81733|0.81733	0.555000|0.555000	0.69702|0.69702	GCA|TGC		0.532	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1	NM_018043	
PAAF1	80227	broad.mit.edu	37	11	73627614	73627614	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr11:73627614G>A	ENST00000310571.3	+	9	897	c.844G>A	c.(844-846)Gct>Act	p.A282T	PAAF1_ENST00000535604.1_Missense_Mutation_p.A167T|PAAF1_ENST00000536003.1_Missense_Mutation_p.A265T|PAAF1_ENST00000376384.5_Missense_Mutation_p.A265T|PAAF1_ENST00000541951.1_Missense_Mutation_p.A167T|PAAF1_ENST00000544552.1_Missense_Mutation_p.A265T|PAAF1_ENST00000544909.1_Missense_Mutation_p.A283T	NM_025155.2	NP_079431.1	Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	282					viral process (GO:0016032)	proteasome complex (GO:0000502)				breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(11;7.42e-05)					TGGCTCAGACGCTTTCAACTG	0.423																																						uc001ouk.1																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(844-846)Gct>Act		Homo sapiens proteasomal ATPase-associated factor 1 (PAAF1), mRNA.							162.0	145.0	150.0					11																	73627614		2200	4293	6493	SO:0001583	missense	80227				interspecies interaction between organisms	proteasome complex	protein binding	g.chr11:73627614G>A	BC006142	CCDS8226.1, CCDS58157.1, CCDS58158.1	11q13.4	2013-05-21	2007-08-16	2007-08-16	ENSG00000175575	ENSG00000175575		"""WD repeat domain containing"""	25687	protein-coding gene	gene with protein product			"""WD repeat domain 71"""	WDR71		15831487, 17317272, 17289585	Standard	NM_001267803		Approved	FLJ11848, Rpn14	uc001ouk.2	Q9BRP4	OTTHUMG00000168062	ENST00000310571.3:c.844G>A	11.37:g.73627614G>A	ENSP00000311665:p.Ala282Thr					PAAF1_uc001oul.1_Missense_Mutation_p.A265T|PAAF1_uc001oum.1_Missense_Mutation_p.A265T	p.A282T	NM_025155	NP_079431	Q9BRP4	PAAF1_HUMAN			8	878	+	Breast(11;7.42e-05)		282					A6NDR5|B4DPB0|B7ZAS9|Q4G165|Q53HS9|Q7Z500|Q8TBU6|Q9HAB6	Missense_Mutation	SNP	ENST00000310571.3	37	c.844G>A	CCDS8226.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.865233	0.91511	.	.	ENSG00000175575	ENST00000541951;ENST00000310571;ENST00000535604;ENST00000536003;ENST00000544552;ENST00000546039;ENST00000376384;ENST00000544909	T;T;T;T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1;1.1;1.1;1.1	5.42	5.42	0.78866	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.077382	0.53938	D	0.000046	T	0.64962	0.2646	M	0.78049	2.395	0.34980	D	0.753999	D;D	0.89917	0.997;1.0	P;D	0.66602	0.839;0.945	T	0.73471	-0.3972	10	0.44086	T	0.13	-7.3136	17.7649	0.88475	0.0:0.0:1.0:0.0	.	265;282	Q9BRP4-2;Q9BRP4	.;PAAF1_HUMAN	T	167;282;167;265;265;146;265;283	ENSP00000441333:A167T;ENSP00000311665:A282T;ENSP00000438789:A167T;ENSP00000438124:A265T;ENSP00000441494:A265T;ENSP00000439877:A146T;ENSP00000365564:A265T;ENSP00000438071:A283T	ENSP00000311665:A282T	A	+	1	0	PAAF1	73305262	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.364000	0.73086	2.536000	0.85505	0.655000	0.94253	GCT		0.423	PAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397885.1	NM_025155	
XRRA1	143570	broad.mit.edu	37	11	74559419	74559419	+	Missense_Mutation	SNP	A	A	G	rs376387401	byFrequency	TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr11:74559419A>G	ENST00000340360.6	-	15	1776	c.1445T>C	c.(1444-1446)aTg>aCg	p.M482T	RN7SL239P_ENST00000490061.2_RNA|XRRA1_ENST00000321448.8_Missense_Mutation_p.M207T|XRRA1_ENST00000527087.1_Missense_Mutation_p.M395T	NM_182969.2	NP_892014.1			X-ray radiation resistance associated 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						TGGCTCTAGCATATCCTTTGA	0.552													A|||	4	0.000798722	0.003	0.0	5008	,	,		20487	0.0		0.0	False		,,,				2504	0.0					uc009yub.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						c.(1444-1446)aTg>aCg		Homo sapiens X-ray radiation resistance associated 1 (XRRA1), mRNA.		A	THR/MET	8,4190		0,8,2091	54.0	60.0	58.0		1445	-1.3	0.0	11		58	0,8380		0,0,4190	yes	missense	XRRA1	NM_182969.1	81	0,8,6281	GG,GA,AA		0.0,0.1906,0.0636	benign	482/793	74559419	8,12570	2099	4190	6289	SO:0001583	missense	143570				response to X-ray	cytoplasm|nucleus		g.chr11:74559419A>G	AK074152	CCDS44680.1, CCDS58159.1, CCDS58160.1	11q13.4	2010-03-19			ENSG00000166435	ENSG00000166435			18868	protein-coding gene	gene with protein product		609788				12908878, 17295261	Standard	NM_182969		Approved	FLJ00225	uc009yub.3	Q6P2D8		ENST00000340360.6:c.1445T>C	11.37:g.74559419A>G	ENSP00000339918:p.Met482Thr					XRRA1_uc001ovm.2_Non-coding_Transcript|XRRA1_uc001ovn.3_Missense_Mutation_p.M105T|XRRA1_uc001ovo.3_Missense_Mutation_p.M90T|XRRA1_uc001ovp.4_Missense_Mutation_p.M207T|XRRA1_uc001ovq.4_Missense_Mutation_p.M395T|XRRA1_uc001ovr.2_Missense_Mutation_p.M105T|XRRA1_uc001ovs.1_Missense_Mutation_p.M84T	p.M482T	NM_182969	NP_892014	Q6P2D8	XRRA1_HUMAN			14	1777	-			482						Missense_Mutation	SNP	ENST00000340360.6	37	c.1445T>C	CCDS44680.1	.	.	.	.	.	.	.	.	.	.	A	11.13	1.549275	0.27652	0.001906	0.0	ENSG00000166435	ENST00000340360;ENST00000321448;ENST00000344880;ENST00000398418;ENST00000527087	T;T;T	0.50813	0.73;1.49;0.74	3.82	-1.3	0.09259	.	0.827873	0.10584	N	0.657638	T	0.37517	0.1006	L	0.57536	1.79	0.09310	N	1	B;B;B;B;B;B;B	0.22746	0.001;0.074;0.005;0.005;0.005;0.005;0.005	B;B;B;B;B;B;B	0.19666	0.001;0.026;0.008;0.02;0.004;0.004;0.004	T	0.38436	-0.9661	10	0.56958	D	0.05	2.2308	3.0876	0.06283	0.482:0.0:0.3294:0.1886	.	482;84;38;395;426;92;468	Q6P2D8;B3KRF2;E9PP69;Q6P2D8-2;Q6P2D8-4;Q8TEH2;Q6P2D8-3	XRRA1_HUMAN;.;.;.;.;.;.	T	482;207;468;426;395	ENSP00000339918:M482T;ENSP00000319303:M207T;ENSP00000435838:M395T	ENSP00000319303:M207T	M	-	2	0	XRRA1	74237067	0.000000	0.05858	0.000000	0.03702	0.457000	0.32468	0.172000	0.16704	-0.249000	0.09569	0.482000	0.46254	ATG		0.552	XRRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384715.1	NM_182969	
ADAMTS8	11095	broad.mit.edu	37	11	130281492	130281492	+	Missense_Mutation	SNP	C	C	T	rs371697073		TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr11:130281492C>T	ENST00000257359.6	-	6	2276	c.1570G>A	c.(1570-1572)Gtg>Atg	p.V524M		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	524	Disintegrin.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.V553M(1)|p.V524M(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CCATCTGCCACGGGCTGCAAC	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		19254	0.001		0.0	False		,,,				2504	0.0					uc001qgg.4																			2	Substitution - Missense(2)	p.V553M(1)|p.V524M(1)	lung(2)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10						c.(1570-1572)Gtg>Atg		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA.		C	MET/VAL	1,4041		0,1,2020	46.0	49.0	48.0		1570	1.7	0.9	11		48	0,8364		0,0,4182	no	missense	ADAMTS8	NM_007037.4	21	0,1,6202	TT,TC,CC		0.0,0.0247,0.0081	benign	524/890	130281492	1,12405	2021	4182	6203	SO:0001583	missense	11095				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	g.chr11:130281492C>T	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	224	protein-coding gene	gene with protein product		605175	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"""			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.1570G>A	11.37:g.130281492C>T	ENSP00000257359:p.Val524Met					ADAMTS8_uc001qgf.3_Missense_Mutation_p.V5M	p.V524M	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)	5	1928	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	524			Disintegrin.		Q9NZS0	Missense_Mutation	SNP	ENST00000257359.6	37	c.1570G>A	CCDS41732.1	.	.	.	.	.	.	.	.	.	.	C	10.81	1.454419	0.26161	2.47E-4	0.0	ENSG00000134917	ENST00000257359;ENST00000414575	T	0.61158	0.13	5.87	1.73	0.24493	.	0.400931	0.26349	N	0.024882	T	0.27489	0.0675	N	0.03608	-0.345	0.22213	N	0.999287	B;B	0.25955	0.138;0.005	B;B	0.20184	0.028;0.003	T	0.16453	-1.0402	10	0.66056	D	0.02	.	4.285	0.10850	0.1098:0.469:0.2867:0.1345	.	524;5	Q9UP79;B3KVX9	ATS8_HUMAN;.	M	524;553	ENSP00000257359:V524M	ENSP00000257359:V524M	V	-	1	0	ADAMTS8	129786702	0.000000	0.05858	0.932000	0.37286	0.531000	0.34715	-0.362000	0.07602	0.395000	0.25257	-0.238000	0.12139	GTG		0.577	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037	
KRT4	3851	broad.mit.edu	37	12	53208029	53208029	+	De_novo_Start_OutOfFrame	SNP	G	G	A	rs143824965	byFrequency	TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr12:53208029G>A	ENST00000551956.1	-	0	306				KRT4_ENST00000293774.4_Silent_p.N12N|KRT4_ENST00000458244.2_5'Flank			P19013	K2C4_HUMAN	keratin 4						cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						TCCCGCACCCGTTGAGCATGT	0.542													G|||	3	0.000599042	0.0023	0.0	5008	,	,		19706	0.0		0.0	False		,,,				2504	0.0				Pancreas(190;284 2995 41444 45903)	uc001saz.3																			0				endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						c.(34-36)aaC>aaT		Homo sapiens keratin 4 (KRT4), mRNA.		G		10,3832		0,10,1911	67.0	72.0	70.0			3.9	1.0	12	dbSNP_134	70	0,8230		0,0,4115	no	near-gene-5				0,10,6026	AA,AG,GG		0.0,0.2603,0.0828			53208029	10,12062	1921	4115	6036			3851					keratin filament	structural molecule activity	g.chr12:53208029G>A		CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6441	protein-coding gene	gene with protein product	"""cytokeratin 4"", ""keratin, type II cytoskeletal 4"""	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.-187C>T	12.37:g.53208029G>A							p.N12N	NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN			0	36	-			0					F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Silent	SNP	ENST00000551956.1	37	c.36C>T	CCDS41787.2																																																																																				0.542	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	NM_002272	
MYO1A	4640	broad.mit.edu	37	12	57432332	57432332	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr12:57432332G>A	ENST00000442789.2	-	18	1911	c.1624C>T	c.(1624-1626)Ctc>Ttc	p.L542F	MYO1A_ENST00000300119.3_Missense_Mutation_p.L542F|MYO1A_ENST00000544473.1_Missense_Mutation_p.L380F|MYO1A_ENST00000476795.1_5'UTR	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	542	Myosin motor.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						GACCGAAGGAGGGGGTGCTGG	0.537																																						uc001smw.4																			0				breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						c.(1624-1626)Ctc>Ttc		Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA.							78.0	77.0	77.0					12																	57432332		2203	4300	6503	SO:0001583	missense	4640				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr12:57432332G>A	L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"""Myosins / Myosin superfamily : Class I"""	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.1624C>T	12.37:g.57432332G>A	ENSP00000393392:p.Leu542Phe					MYO1A_uc010sqz.2_Missense_Mutation_p.L380F|MYO1A_uc009zpd.3_Missense_Mutation_p.L542F	p.L542F	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN			16	1864	-			542			Myosin head-like.		Q9UQD7	Missense_Mutation	SNP	ENST00000442789.2	37	c.1624C>T	CCDS8929.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.423936	0.83667	.	.	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000544473	D;D;D	0.88124	-2.34;-2.34;-2.34	4.94	4.03	0.46877	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.89444	0.6717	L	0.39326	1.205	0.52099	D	0.999947	D	0.89917	1.0	D	0.91635	0.999	D	0.89235	0.3580	10	0.56958	D	0.05	.	11.9539	0.52970	0.0919:0.0:0.9081:0.0	.	542	Q9UBC5	MYO1A_HUMAN	F	542;542;380	ENSP00000300119:L542F;ENSP00000393392:L542F;ENSP00000440514:L380F	ENSP00000300119:L542F	L	-	1	0	MYO1A	55718599	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	5.730000	0.68546	2.477000	0.83638	0.561000	0.74099	CTC		0.537	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379	
C12orf66	144577	broad.mit.edu	37	12	64588399	64588399	+	Silent	SNP	G	G	A			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr12:64588399G>A	ENST00000398055.3	-	3	614	c.561C>T	c.(559-561)ttC>ttT	p.F187F	C12orf66_ENST00000544871.1_Silent_p.F134F|C12orf66_ENST00000311915.8_Silent_p.F187F	NM_152440.4	NP_689653	Q96MD2	CL066_HUMAN	chromosome 12 open reading frame 66	187										central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						CTTCCAGCTGGAAACTGCTTT	0.478																																						uc001srw.4																			0				central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						c.(559-561)ttC>ttT		Homo sapiens chromosome 12 open reading frame 66 (C12orf66), mRNA.							58.0	55.0	56.0					12																	64588399		1891	4135	6026	SO:0001819	synonymous_variant	144577							g.chr12:64588399G>A		CCDS41803.1, CCDS73490.1	12q14.2	2008-08-08			ENSG00000174206	ENSG00000174206			26517	protein-coding gene	gene with protein product						12477932	Standard	NM_152440		Approved	FLJ32549	uc001srw.4	Q96MD2	OTTHUMG00000168763	ENST00000398055.3:c.561C>T	12.37:g.64588399G>A							p.F187F	NM_152440	NP_689653	Q96MD2	CL066_HUMAN			2	620	-			187					C9JX54|Q8IYA0	Silent	SNP	ENST00000398055.3	37	c.561C>T	CCDS41803.1																																																																																				0.478	C12orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400921.1	NM_152440	
KSR2	283455	broad.mit.edu	37	12	118016952	118016952	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr12:118016952G>A	ENST00000339824.5	-	7	2024	c.1297C>T	c.(1297-1299)Ctt>Ttt	p.L433F	KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000425217.1_Missense_Mutation_p.L404F|KSR2_ENST00000302438.5_Missense_Mutation_p.L130F			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	433					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.L465F(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGGCCAAAAAGCATCCCTTTC	0.478																																						uc001two.2																			1	Substitution - Missense(1)	p.L465F(1)	central_nervous_system(1)	NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1210-1212)Ctt>Ttt		Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.							77.0	73.0	74.0					12																	118016952		1965	4156	6121	SO:0001583	missense	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:118016952G>A	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.1297C>T	12.37:g.118016952G>A	ENSP00000339952:p.Leu433Phe						p.L404F	NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN			6	1265	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		433					A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	ENST00000339824.5	37	c.1210C>T		.	.	.	.	.	.	.	.	.	.	G	11.62	1.692058	0.30052	.	.	ENSG00000171435	ENST00000425217;ENST00000339824;ENST00000302438;ENST00000542378	T;T;T	0.58797	0.31;0.31;0.31	4.6	3.68	0.42216	Protein kinase C-like, phorbol ester/diacylglycerol binding (3);	0.000000	0.64402	D	0.000002	T	0.37019	0.0988	N	0.01705	-0.755	0.47949	D	0.999558	D	0.59357	0.985	P	0.61477	0.889	T	0.50083	-0.8869	10	0.02654	T	1	.	6.7933	0.23711	0.2611:0.0:0.7389:0.0	.	433	Q6VAB6	KSR2_HUMAN	F	404;433;130;105	ENSP00000389715:L404F;ENSP00000339952:L433F;ENSP00000305466:L130F	ENSP00000305466:L130F	L	-	1	0	KSR2	116501335	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.666000	0.46799	2.268000	0.75426	0.400000	0.26472	CTT		0.478	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598	
CCDC60	160777	broad.mit.edu	37	12	119866567	119866567	+	Splice_Site	SNP	G	G	A			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr12:119866567G>A	ENST00000327554.2	+	2	635	c.170G>A	c.(169-171)cGc>cAc	p.R57H	CCDC60_ENST00000539847.1_Missense_Mutation_p.R57Q|CCDC60_ENST00000546345.1_3'UTR|RP11-768F21.1_ENST00000509470.2_lincRNA|CCDC60_ENST00000536742.1_Splice_Site_p.R57H	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	57										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		ATACGAAGCCGGTGAGTGAGC	0.502																																						uc001txe.3																			0				endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.e2+1		Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.							59.0	52.0	54.0					12																	119866567		2203	4300	6503	SO:0001630	splice_region_variant	160777							g.chr12:119866567G>A	BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.170+1G>A	12.37:g.119866567G>A						AF086288_uc001txf.3_Intron	p.R57_splice	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.207)	2	635	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		57						Missense_Mutation	SNP	ENST00000327554.2	37	c.170_splice	CCDS9190.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.74|15.74	2.923959|2.923959	0.52653|0.52653	.|.	.|.	ENSG00000183273|ENSG00000183273	ENST00000536742;ENST00000327554|ENST00000539847	T;T|T	0.60920|0.64803	0.15;1.37|-0.12	4.54|4.54	3.64|3.64	0.41730|0.41730	.|.	0.118494|0.118494	0.34603|0.34603	N|N	0.003830|0.003830	T|T	0.61060|0.61060	0.2317|0.2317	L|L	0.50333|0.50333	1.59|1.59	0.29353|0.29353	N|N	0.865219|0.865219	D|.	0.69078|.	0.997|.	P|.	0.59288|.	0.855|.	T|T	0.58674|0.58674	-0.7595|-0.7595	9|7	.|.	.|.	.|.	-3.9396|-3.9396	10.7273|10.7273	0.46077|0.46077	0.0:0.1925:0.8075:0.0|0.0:0.1925:0.8075:0.0	.|.	57|.	Q8IWA6|.	CCD60_HUMAN|.	H|Q	57|57	ENSP00000445505:R57H;ENSP00000333374:R57H|ENSP00000443403:R57Q	.|.	R|R	+|+	2|2	0|0	CCDC60|CCDC60	118350950|118350950	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	3.769000|3.769000	0.55303|0.55303	1.493000|1.493000	0.48517|0.48517	0.655000|0.655000	0.94253|0.94253	CGC|CGG		0.502	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1	NM_178499	Missense_Mutation
GPR133	283383	broad.mit.edu	37	12	131487816	131487816	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr12:131487816G>T	ENST00000261654.5	+	10	1672	c.1113G>T	c.(1111-1113)caG>caT	p.Q371H	GPR133_ENST00000535015.1_Missense_Mutation_p.Q403H|GPR133_ENST00000376682.4_Missense_Mutation_p.Q57H	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	371					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GCACGCCCCAGGTCACCGTGG	0.617																																						uc010tbm.2																			0				NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67						c.(1207-1209)caG>caT		Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.							97.0	81.0	86.0					12																	131487816		2203	4300	6503	SO:0001583	missense	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131487816G>T	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.1113G>T	12.37:g.131487816G>T	ENSP00000261654:p.Gln371His					GPR133_uc001uit.4_Missense_Mutation_p.Q371H	p.Q403H	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	10	1768	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		371					B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	37	c.1209G>T	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	G	9.836	1.189858	0.21954	.	.	ENSG00000111452	ENST00000261654;ENST00000535015;ENST00000544673;ENST00000545900;ENST00000376682	T;T;T	0.41758	1.02;1.02;0.99	4.88	0.211	0.15236	.	0.966484	0.08589	N	0.923391	T	0.22742	0.0549	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.27536	-1.0071	10	0.09590	T	0.72	.	6.568	0.22523	0.0:0.379:0.3014:0.3196	.	403;371	B7ZLF7;Q6QNK2	.;GP133_HUMAN	H	371;403;62;67;57	ENSP00000261654:Q371H;ENSP00000444425:Q403H;ENSP00000365872:Q57H	ENSP00000261654:Q371H	Q	+	3	2	GPR133	130053769	0.000000	0.05858	0.030000	0.17652	0.012000	0.07955	-0.167000	0.09940	0.448000	0.26722	0.511000	0.50034	CAG		0.617	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827	
DCLK1	9201	broad.mit.edu	37	13	36428681	36428681	+	Silent	SNP	C	C	T	rs200783749		TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr13:36428681C>T	ENST00000360631.3	-	6	1201	c.990G>A	c.(988-990)tcG>tcA	p.S330S	DCLK1_ENST00000379893.1_Silent_p.S23S|DCLK1_ENST00000379892.4_Silent_p.S330S|DCLK1_ENST00000255448.4_Silent_p.S330S|DCLK1_ENST00000460982.1_5'UTR			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	330	Pro/Ser-rich.				axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)	p.S330S(2)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		ATGGGCTTGGCGACTTGCCTG	0.493													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18161	0.0		0.0	False		,,,				2504	0.0					uc001uvf.3																			2	Substitution - coding silent(2)	p.S330S(3)	large_intestine(2)	breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64						c.(988-990)tcG>tcA		Homo sapiens doublecortin-like kinase 1 (DCLK1), transcript variant 1, mRNA.							132.0	116.0	121.0					13																	36428681		2203	4300	6503	SO:0001819	synonymous_variant	9201				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr13:36428681C>T	AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.990G>A	13.37:g.36428681C>T						MAB21L1_uc001uvc.3_Intron|DCLK1_uc001uve.4_Silent_p.S23S|DCLK1_uc010teh.2_Silent_p.S23S|DCLK1_uc010abk.3_Silent_p.S23S|DCLK1_uc001uvh.4_Silent_p.S23S	p.S330S	NM_004734	NP_004725	O15075	DCLK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)	5	1273	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	330			Pro/Ser-rich.		B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Silent	SNP	ENST00000360631.3	37	c.990G>A																																																																																					0.493	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734	
GRK1	6011	broad.mit.edu	37	13	114321752	114321752	+	Silent	SNP	C	C	T			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr13:114321752C>T	ENST00000335678.6	+	1	283	c.51C>T	c.(49-51)gcC>gcT	p.A17A		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	17	N-terminal.				negative regulation of apoptotic process (GO:0043066)|photoreceptor cell morphogenesis (GO:0008594)|phototransduction, visible light (GO:0007603)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)|rhodopsin kinase activity (GO:0050254)			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			CCTTCATCGCCGCCCGAGGCA	0.647																																						uc010tkf.2																			0				ovary(2)	2						c.(49-51)gcC>gcT		Homo sapiens G protein-coupled receptor kinase 1 (GRK1), mRNA.							32.0	39.0	37.0					13																	114321752		2082	4217	6299	SO:0001819	synonymous_variant	6011				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity	g.chr13:114321752C>T			13q34	2013-09-02	2004-03-23	2004-03-24	ENSG00000185974	ENSG00000185974	2.7.11.14		10013	protein-coding gene	gene with protein product		180381	"""rhodopsin kinase"""	RHOK		8812493, 15057823	Standard	NM_002929		Approved	GPRK1, RK	uc010tkf.2	Q15835	OTTHUMG00000185528	ENST00000335678.6:c.51C>T	13.37:g.114321752C>T							p.A17A	NM_002929	NP_002920	Q15835	RK_HUMAN	all cancers(43;0.234)		0	156	+	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	17			N-terminal.		Q53X14	Silent	SNP	ENST00000335678.6	37	c.51C>T																																																																																					0.647	GRK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470655.1	NM_002929	
SCFD1	23256	broad.mit.edu	37	14	31139520	31139520	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr14:31139520C>G	ENST00000458591.2	+	11	1141	c.914C>G	c.(913-915)gCt>gGt	p.A305G	SCFD1_ENST00000544052.2_Missense_Mutation_p.A238G|SCFD1_ENST00000421551.3_Missense_Mutation_p.A246G|SCFD1_ENST00000396629.2_Missense_Mutation_p.A213G|SCFD1_ENST00000541123.1_Missense_Mutation_p.A120G	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	305					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle docking involved in exocytosis (GO:0006904)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi transport complex (GO:0017119)|Golgi-associated vesicle (GO:0005798)|plasma membrane (GO:0005886)	syntaxin binding (GO:0019905)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		AACTCTCCAGCTGGTGCTAGA	0.328																																						uc001wqm.1																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13						c.(913-915)gCt>gGt		Homo sapiens sec1 family domain containing 1 (SCFD1), transcript variant 1, mRNA.							75.0	90.0	85.0					14																	31139520		2203	4297	6500	SO:0001583	missense	23256				post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding	g.chr14:31139520C>G	AF110646	CCDS9639.1, CCDS45092.1, CCDS58308.1	14q12	2006-04-04	2004-01-15	2004-01-16	ENSG00000092108	ENSG00000092108			20726	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 163"""	C14orf163			Standard	NM_016106		Approved	RA410, KIAA0917, STXBP1L2, SLY1	uc001wqm.2	Q8WVM8	OTTHUMG00000029420	ENST00000458591.2:c.914C>G	14.37:g.31139520C>G	ENSP00000390783:p.Ala305Gly					SCFD1_uc001wqn.1_Missense_Mutation_p.A238G|SCFD1_uc010tpg.1_Missense_Mutation_p.A246G|SCFD1_uc010tph.1_Missense_Mutation_p.A120G|SCFD1_uc010amf.1_Missense_Mutation_p.A120G|SCFD1_uc010tpi.1_Missense_Mutation_p.A213G|SCFD1_uc010amd.1_Missense_Mutation_p.A137G	p.A305G	NM_016106	NP_057190	Q8WVM8	SCFD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)	10	938	+	Hepatocellular(127;0.0877)		305					A8K2Z5|B7Z4U7|B7Z594|O60754|O94990|Q7Z529|Q9BZI3|Q9UNL3|Q9Y6A8	Missense_Mutation	SNP	ENST00000458591.2	37	c.914C>G	CCDS9639.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.510842	0.64522	.	.	ENSG00000092108	ENST00000458591;ENST00000544052;ENST00000421551;ENST00000541123;ENST00000396629	T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52	5.46	5.46	0.80206	.	0.167340	0.51477	D	0.000081	T	0.25457	0.0619	N	0.16743	0.435	0.58432	D	0.999998	B;B;B;B	0.20164	0.0;0.042;0.003;0.001	B;B;B;B	0.28385	0.001;0.089;0.008;0.003	T	0.04607	-1.0939	10	0.31617	T	0.26	-40.3392	19.6693	0.95905	0.0:1.0:0.0:0.0	.	246;238;213;305	B7Z738;B7Z4U7;B7Z594;Q8WVM8	.;.;.;SCFD1_HUMAN	G	305;238;246;120;213	ENSP00000390783:A305G;ENSP00000443010:A238G;ENSP00000388078:A246G;ENSP00000443537:A120G;ENSP00000379870:A213G	ENSP00000309417:A313G	A	+	2	0	SCFD1	30209271	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.518000	0.73764	2.711000	0.92665	0.650000	0.86243	GCT		0.328	SCFD1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276612.3	NM_182835	
FANCM	57697	broad.mit.edu	37	14	45665510	45665510	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr14:45665510G>A	ENST00000267430.5	+	21	5561	c.5476G>A	c.(5476-5478)Gaa>Aaa	p.E1826K	FANCM_ENST00000542564.2_Missense_Mutation_p.E1800K	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1826	Interaction with FAAP24 and EME1.				DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AGGTGGTCATGAAATCACTTC	0.418								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc001wwd.4																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						c.(5476-5478)Gaa>Aaa	Involved in tolerance or repair of DNA crosslinks	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.							130.0	125.0	127.0					14																	45665510		2203	4300	6503	SO:0001583	missense	57697	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45665510G>A	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.5476G>A	14.37:g.45665510G>A	ENSP00000267430:p.Glu1826Lys					FANCM_uc010anf.3_Missense_Mutation_p.E1800K|FANCM_uc001wwe.4_Missense_Mutation_p.E1362K|FANCM_uc010ang.3_Missense_Mutation_p.E1075K	p.E1826K	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN			20	5575	+			1826			Interaction with FAAP24 and EME1.		B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	c.5476G>A	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.428175	0.62844	.	.	ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250	T;T;T	0.26957	2.15;2.24;1.7	5.27	5.27	0.74061	DNA repair nuclease, XPF-type/Helicase (1);Restriction endonuclease, type II-like (1);ERCC4 domain (1);	0.143965	0.52532	D	0.000080	T	0.53206	0.1782	M	0.76328	2.33	0.38647	D	0.951747	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.994	T	0.56902	-0.7902	10	0.48119	T	0.1	.	18.5024	0.90887	0.0:0.0:1.0:0.0	.	1800;1826	B2RTQ9;Q8IYD8	.;FANCM_HUMAN	K	1826;1800;1342	ENSP00000267430:E1826K;ENSP00000442493:E1800K;ENSP00000452033:E1342K	ENSP00000267430:E1826K	E	+	1	0	FANCM	44735260	1.000000	0.71417	1.000000	0.80357	0.431000	0.31685	4.329000	0.59260	2.468000	0.83385	0.563000	0.77884	GAA		0.418	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128	
ESR2	2100	broad.mit.edu	37	14	64727172	64727172	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr14:64727172A>T	ENST00000341099.4	-	5	1364	c.947T>A	c.(946-948)aTt>aAt	p.I316N	ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000542956.1_Missense_Mutation_p.I316N|ESR2_ENST00000553796.1_Missense_Mutation_p.I316N|ESR2_ENST00000357782.2_Missense_Mutation_p.I316N|ESR2_ENST00000353772.3_Missense_Mutation_p.I316N|ESR2_ENST00000555278.1_Missense_Mutation_p.I316N|ESR2_ENST00000358599.5_Missense_Mutation_p.I316N|ESR2_ENST00000557772.1_Missense_Mutation_p.I316N|ESR2_ENST00000554572.1_Missense_Mutation_p.I316N|ESR2_ENST00000267525.6_Missense_Mutation_p.I316N	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	316	Steroid-binding.				brain development (GO:0007420)|cell-cell signaling (GO:0007267)|epithelial cell maturation involved in prostate gland development (GO:0060743)|extracellular negative regulation of signal transduction (GO:1900116)|gene expression (GO:0010467)|hormone-mediated apoptotic signaling pathway (GO:0008628)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|ovarian follicle development (GO:0001541)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|uterus development (GO:0060065)|vagina development (GO:0060068)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor antagonist activity (GO:0048019)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estropipate(DB04574)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	CCTACCGGGAATCTTCTTGGC	0.532																																						uc001xha.1																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23						c.(946-948)aTt>aAt		Homo sapiens estrogen receptor 2 (ER beta) (ESR2), transcript variant a, mRNA.	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)						98.0	102.0	101.0					14																	64727172		2203	4300	6503	SO:0001583	missense	2100				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding	g.chr14:64727172A>T	X99101	CCDS9762.1, CCDS32096.1, CCDS55920.1, CCDS61469.1, CCDS61470.1	14q21-q22	2013-01-16			ENSG00000140009	ENSG00000140009		"""Nuclear hormone receptors"""	3468	protein-coding gene	gene with protein product		601663				8769313	Standard	NM_001214902		Approved	NR3A2, Erb	uc001xha.1	Q92731	OTTHUMG00000141306	ENST00000341099.4:c.947T>A	14.37:g.64727172A>T	ENSP00000343925:p.Ile316Asn					ESR2_uc001xgy.2_Missense_Mutation_p.I316N|ESR2_uc001xgu.3_Missense_Mutation_p.I316N|ESR2_uc001xgv.3_Missense_Mutation_p.I316N|ESR2_uc001xgw.3_Non-coding_Transcript|ESR2_uc001xgx.3_Missense_Mutation_p.I316N|ESR2_uc010aqb.1_Non-coding_Transcript|ESR2_uc010aqc.1_Missense_Mutation_p.I316N|ESR2_uc001xgz.2_Missense_Mutation_p.I316N|ESR2_uc010aqd.1_Non-coding_Transcript	p.I316N	NM_001437	NP_001428	Q92731	ESR2_HUMAN		all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	4	1415	-			316			Steroid-binding.		A8K8K5|G3V5M5|O60608|O60685|O60702|O60703|O75583|O75584|Q0MWT5|Q0MWT6|Q86Z31|Q9UEV6|Q9UHD3|Q9UQK9	Missense_Mutation	SNP	ENST00000341099.4	37	c.947T>A	CCDS9762.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.514241	0.85389	.	.	ENSG00000140009	ENST00000556275;ENST00000542956;ENST00000554572;ENST00000353772;ENST00000358599;ENST00000555278;ENST00000553796;ENST00000357782;ENST00000557772;ENST00000341099;ENST00000267525	D;D;D;D;D;D;D;D;D;D;T	0.97016	-4.21;-4.21;-4.21;-4.21;-4.21;-4.21;-4.21;-4.21;-4.21;-4.21;0.3	5.83	5.83	0.93111	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98723	0.9571	H	0.95114	3.625	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.993;1.0;0.999;1.0;1.0	D	0.99731	1.1012	10	0.87932	D	0	.	16.2147	0.82198	1.0:0.0:0.0:0.0	.	316;316;316;316;316	Q92731-7;Q92731;Q92731-6;Q92731-5;F1D8N3	.;ESR2_HUMAN;.;.;.	N	316	ENSP00000452485:I316N;ENSP00000441792:I316N;ENSP00000450699:I316N;ENSP00000335551:I316N;ENSP00000351412:I316N;ENSP00000450488:I316N;ENSP00000452426:I316N;ENSP00000350427:I316N;ENSP00000451582:I316N;ENSP00000343925:I316N;ENSP00000267525:I316N	ENSP00000267525:I316N	I	-	2	0	ESR2	63796925	1.000000	0.71417	0.982000	0.44146	0.853000	0.48598	9.226000	0.95229	2.231000	0.72958	0.460000	0.39030	ATT		0.532	ESR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280621.1		
SERPINA6	866	broad.mit.edu	37	14	94780400	94780400	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr14:94780400C>T	ENST00000341584.3	-	2	732	c.586G>A	c.(586-588)Gtc>Atc	p.V196I		NM_001756.3	NP_001747	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	196					glucocorticoid metabolic process (GO:0008211)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)|steroid binding (GO:0005496)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	TTGACCAGGACGAGGATGGCT	0.502																																						uc001ycv.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26						c.(586-588)Gtc>Atc		Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 (SERPINA6), mRNA.	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)						116.0	114.0	115.0					14																	94780400		2203	4300	6503	SO:0001583	missense	866				regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding	g.chr14:94780400C>T	J02943	CCDS9924.1	14q32.13	2014-02-18	2005-08-18		ENSG00000170099	ENSG00000170099		"""Serine (or cysteine) peptidase inhibitors"""	1540	protein-coding gene	gene with protein product	"""corticosteroid binding globulin"", ""transcortin"""	122500	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6"""	CBG		3299377, 7912884, 24172014	Standard	NM_001756		Approved		uc001ycv.3	P08185	OTTHUMG00000171346	ENST00000341584.3:c.586G>A	14.37:g.94780400C>T	ENSP00000342850:p.Val196Ile					SERPINA6_uc010auv.3_Non-coding_Transcript	p.V196I	NM_001756	NP_001747	P08185	CBG_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	1	690	-		all_cancers(154;0.0482)|all_epithelial(191;0.166)	196					A8K456|Q7Z2Q9	Missense_Mutation	SNP	ENST00000341584.3	37	c.586G>A	CCDS9924.1	.	.	.	.	.	.	.	.	.	.	C	5.561	0.288392	0.10513	.	.	ENSG00000170099	ENST00000341584	D	0.85411	-1.98	5.06	-0.508	0.11980	Serpin domain (3);	0.989207	0.08230	N	0.977772	T	0.63331	0.2502	N	0.05124	-0.11	0.19575	N	0.999967	B	0.27765	0.188	B	0.25884	0.064	T	0.52351	-0.8587	10	0.19590	T	0.45	.	2.1852	0.03885	0.1151:0.347:0.1834:0.3545	.	196	P08185	CBG_HUMAN	I	196	ENSP00000342850:V196I	ENSP00000342850:V196I	V	-	1	0	SERPINA6	93850153	0.003000	0.15002	0.952000	0.39060	0.771000	0.43674	-1.158000	0.03153	0.085000	0.17107	-0.459000	0.05422	GTC		0.502	SERPINA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413065.1	NM_001756	
AHNAK2	113146	broad.mit.edu	37	14	105410846	105410846	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr14:105410846A>G	ENST00000333244.5	-	7	11061	c.10942T>C	c.(10942-10944)Ttc>Ctc	p.F3648L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3648						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GATACCCTGAATGACGGCATC	0.592																																						uc010axc.1																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(10942-10944)Ttc>Ctc		Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.							190.0	202.0	198.0					14																	105410846		1995	4160	6155	SO:0001583	missense	113146					nucleus		g.chr14:105410846A>G	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.10942T>C	14.37:g.105410846A>G	ENSP00000353114:p.Phe3648Leu					AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.F3548L	p.F3648L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		6	11062	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3648					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.10942T>C	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	a	9.968	1.224696	0.22457	.	.	ENSG00000185567	ENST00000333244	T	0.01629	4.72	4.3	3.05	0.35203	.	.	.	.	.	T	0.02533	0.0077	M	0.71036	2.16	0.09310	N	1	P	0.37731	0.607	B	0.39465	0.3	T	0.24905	-1.0147	9	0.07325	T	0.83	.	6.0947	0.20013	0.6708:0.1677:0.0:0.1614	.	3648	Q8IVF2	AHNK2_HUMAN	L	3648	ENSP00000353114:F3648L	ENSP00000353114:F3648L	F	-	1	0	AHNAK2	104481891	0.002000	0.14202	0.041000	0.18516	0.003000	0.03518	-0.040000	0.12104	1.585000	0.49928	0.402000	0.26972	TTC		0.592	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
AHNAK2	113146	broad.mit.edu	37	14	105417866	105417866	+	Missense_Mutation	SNP	C	C	T	rs532275274		TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr14:105417866C>T	ENST00000333244.5	-	7	4041	c.3922G>A	c.(3922-3924)Gca>Aca	p.A1308T	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1308						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCAGCTGTGCGCCATCCAAC	0.597													.|||	1	0.000199681	0.0	0.0	5008	,	,		14816	0.0		0.0	False		,,,				2504	0.001					uc010axc.1																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(3922-3924)Gca>Aca		Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.							102.0	88.0	94.0					14																	105417866		1927	3274	5201	SO:0001583	missense	113146					nucleus		g.chr14:105417866C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.3922G>A	14.37:g.105417866C>T	ENSP00000353114:p.Ala1308Thr					AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.A1208T	p.A1308T	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		6	4042	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1308					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.3922G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	N	8.821	0.937460	0.18206	.	.	ENSG00000185567	ENST00000333244	T	0.00651	5.97	3.18	-4.1	0.03940	.	.	.	.	.	T	0.00468	0.0015	L	0.27053	0.805	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.42732	-0.9434	9	0.14656	T	0.56	.	5.2254	0.15391	0.0:0.2637:0.2749:0.4614	.	1308	Q8IVF2	AHNK2_HUMAN	T	1308	ENSP00000353114:A1308T	ENSP00000353114:A1308T	A	-	1	0	AHNAK2	104488911	0.011000	0.17503	0.000000	0.03702	0.000000	0.00434	0.800000	0.27042	-2.064000	0.00888	-2.658000	0.00147	GCA		0.597	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
DUOX2	50506	broad.mit.edu	37	15	45392270	45392270	+	Silent	SNP	G	G	A	rs372592162		TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr15:45392270G>A	ENST00000603300.1	-	24	3364	c.3162C>T	c.(3160-3162)ggC>ggT	p.G1054G	DUOX2_ENST00000389039.6_Silent_p.G1054G	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1054	Interaction with TXNDC11. {ECO:0000250}.				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)		CTGCAAACACGCCAACACAGA	0.562													G|||	1	0.000199681	0.0	0.0	5008	,	,		21383	0.001		0.0	False		,,,				2504	0.0					uc001zun.3																			0				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						c.(3160-3162)ggC>ggT		Homo sapiens dual oxidase 2 (DUOX2), mRNA.		G		1,4395	2.1+/-5.4	0,1,2197	151.0	125.0	134.0		3162	2.4	1.0	15		134	0,8596		0,0,4298	no	coding-synonymous	DUOX2	NM_014080.4		0,1,6495	AA,AG,GG		0.0,0.0227,0.0077		1054/1549	45392270	1,12991	2198	4298	6496	SO:0001819	synonymous_variant	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.chr15:45392270G>A	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.3162C>T	15.37:g.45392270G>A						DUOX2_uc010bea.3_Silent_p.G1054G	p.G1054G	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)	23	3365	-		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)	1054			Interaction with TXNDC11 (By similarity).		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Silent	SNP	ENST00000603300.1	37	c.3162C>T	CCDS10117.1																																																																																				0.562	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080	
FBXO22	26263	broad.mit.edu	37	15	76205599	76205599	+	Frame_Shift_Del	DEL	T	T	-			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr15:76205599delT	ENST00000308275.3	+	3	440	c.335delT	c.(334-336)attfs	p.I112fs	FBXO22_ENST00000540507.1_Frame_Shift_Del_p.I8fs|FBXO22_ENST00000453211.2_Frame_Shift_Del_p.I112fs	NM_147188.2	NP_671717.1	Q8NEZ5	FBX22_HUMAN	F-box protein 22	112					cellular protein modification process (GO:0006464)|cellular response to starvation (GO:0009267)|nucleocytoplasmic transport (GO:0006913)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein polyubiquitination (GO:0000209)|regulation of skeletal muscle fiber development (GO:0048742)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GAAACTTTCATTAGTCTGGAA	0.358																																						uc002bbk.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(334-336)attfs		Homo sapiens F-box protein 22 (FBXO22), transcript variant 1, mRNA.							73.0	77.0	75.0					15																	76205599		2197	4294	6491	SO:0001589	frameshift_variant	26263				ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity	g.chr15:76205599delT	AF174602	CCDS10287.1, CCDS45310.1	15q23	2008-10-03	2004-06-15		ENSG00000167196	ENSG00000167196		"""F-boxes /  ""other"""""	13593	protein-coding gene	gene with protein product	"""FIST domain containing 1"""	609096	"""F-box only protein 22"""			10531035, 10531037, 17855421	Standard	NM_147188		Approved	FBX22, FISTC1	uc002bbk.3	Q8NEZ5	OTTHUMG00000142841	ENST00000308275.3:c.335delT	15.37:g.76205599delT	ENSP00000307833:p.Ile112fs					FBXO22_uc002bbj.2_Frame_Shift_Del_p.I112fs|FBXO22_uc002bbl.3_Frame_Shift_Del_p.I8fs	p.I112fs	NM_147188	NP_671717	Q8NEZ5	FBX22_HUMAN			2	440	+			112					Q0D2P8|Q6PIL5|Q8IXW3|Q9H824|Q9UKC0	Frame_Shift_Del	DEL	ENST00000308275.3	37	c.335delT	CCDS10287.1																																																																																				0.358	FBXO22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286477.2	NM_147188	
SYNM	23336	broad.mit.edu	37	15	99670079	99670079	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr15:99670079C>T	ENST00000560674.1	+	4	1125	c.656C>T	c.(655-657)aCg>aTg	p.T219M	SYNM_ENST00000328642.7_Missense_Mutation_p.T504M|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000336292.6_Missense_Mutation_p.T504M|SYNM_ENST00000561323.1_3'UTR			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	505	Coil 2.|Interaction with DMD and UTRN.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						GTGAAAGCCACGAGGGAGCAA	0.488																																					Pancreas(125;1071 1762 21750 40003 40381)	uc002bup.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						c.(1510-1512)aCg>aTg		Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA.							38.0	39.0	38.0					15																	99670079		1926	4132	6058	SO:0001583	missense	23336				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding	g.chr15:99670079C>T	AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"""A-kinase anchor proteins"", ""Intermediate filaments type IV"""	24466	protein-coding gene	gene with protein product	"""synemin alpha"", ""synemin beta"""	606087	"""desmuslin"""	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000560674.1:c.656C>T	15.37:g.99670079C>T	ENSP00000453040:p.Thr219Met					SYNM_uc002buo.3_Missense_Mutation_p.T504M|SYNM_uc002buq.3_Intron	p.T504M	NM_145728	NP_663780	O15061	SYNEM_HUMAN			4	1631	+			505			Tail.		A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Missense_Mutation	SNP	ENST00000560674.1	37	c.1511C>T		.	.	.	.	.	.	.	.	.	.	C	13.50	2.254525	0.39896	.	.	ENSG00000182253	ENST00000336292;ENST00000328642	T;T	0.25250	1.81;1.81	5.44	2.53	0.30540	.	.	.	.	.	T	0.14917	0.0360	.	.	.	0.09310	N	1	P;B	0.36837	0.571;0.205	B;B	0.25291	0.059;0.032	T	0.10086	-1.0645	8	0.46703	T	0.11	.	8.1686	0.31241	0.1297:0.7453:0.0:0.125	.	505;504	O15061;C9JIE4	SYNEM_HUMAN;.	M	504	ENSP00000336775:T504M;ENSP00000330469:T504M	ENSP00000330469:T504M	T	+	2	0	SYNM	97487602	0.000000	0.05858	0.000000	0.03702	0.456000	0.32438	0.492000	0.22435	0.357000	0.24183	0.655000	0.94253	ACG		0.488	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000415698.2	NM_145728	
LRRK1	79705	broad.mit.edu	37	15	101586198	101586198	+	Silent	SNP	C	C	T			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr15:101586198C>T	ENST00000388948.3	+	21	3335	c.2976C>T	c.(2974-2976)ccC>ccT	p.P992P	LRRK1_ENST00000284395.5_Silent_p.P989P|RP11-505E24.3_ENST00000558979.1_RNA	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ACCTCCTGCCCCATCTCCTTC	0.592																																						uc002bwr.3																			0				breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(2974-2976)ccC>ccT		Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.							103.0	111.0	109.0					15																	101586198		2037	4166	6203	SO:0001819	synonymous_variant	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101586198C>T	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.2976C>T	15.37:g.101586198C>T						LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript	p.P992P	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		20	3295	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		992						Silent	SNP	ENST00000388948.3	37	c.2976C>T	CCDS42086.1																																																																																				0.592	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652	
SPIRE2	84501	broad.mit.edu	37	16	89916966	89916966	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr16:89916966delC	ENST00000378247.3	+	3	586	c.543delC	c.(541-543)gacfs	p.D181fs	SPIRE2_ENST00000564878.1_3'UTR|SPIRE2_ENST00000393062.2_Frame_Shift_Del_p.D181fs	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	181	KIND. {ECO:0000255|PROSITE- ProRule:PRU00709}.				actin cytoskeleton organization (GO:0030036)|cleavage furrow formation (GO:0036089)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|intracellular transport (GO:0046907)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		GGCTGACCGACCCCCGGGGCG	0.751																																						uc002foz.1																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(541-543)gacfs		Homo sapiens spire homolog 2 (Drosophila) (SPIRE2), mRNA.							3.0	5.0	4.0					16																	89916966		1720	3549	5269	SO:0001589	frameshift_variant	84501				transport	cytoplasm|cytoskeleton	actin binding	g.chr16:89916966delC	AL834408	CCDS32516.1	16q24	2013-08-27	2013-08-27			ENSG00000204991			30623	protein-coding gene	gene with protein product		609217	"""spire homolog 2 (Drosophila)"", ""spire family actin nucleation factor 2"""			11347906	Standard	NM_032451		Approved	spir-2, KIAA1832	uc002foz.1	Q8WWL2		ENST00000378247.3:c.543delC	16.37:g.89916966delC	ENSP00000367494:p.Asp181fs					SPIRE2_uc010civ.1_Frame_Shift_Del_p.D96fs|SPIRE2_uc010ciw.1_Frame_Shift_Del_p.D181fs|SPIRE2_uc002fpa.1_Frame_Shift_Del_p.D133fs|SPIRE2_uc010cix.1_Frame_Shift_Del_p.D50fs	p.D181fs	NM_032451	NP_115827	Q8WWL2	SPIR2_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0286)	2	595	+		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)	181			KIND.		A4QPB1|Q2TA98|Q6P433|Q8ND47|Q96JJ5	Frame_Shift_Del	DEL	ENST00000378247.3	37	c.543delC	CCDS32516.1																																																																																				0.751	SPIRE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421843.1	XM_047462	
OR3A2	4995	broad.mit.edu	37	17	3181738	3181738	+	Silent	SNP	G	G	A	rs554078410	byFrequency	TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr17:3181738G>A	ENST00000408891.2	-	1	530	c.492C>T	c.(490-492)aaC>aaT	p.N164N	RP11-64J4.2_ENST00000573491.1_RNA	NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	164					sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|receptor activity (GO:0004872)			ovary(1)	1						GGGTCAGTGCGTTGGTGAAGG	0.582													G|||	3	0.000599042	0.0	0.0	5008	,	,		20392	0.0		0.0	False		,,,				2504	0.0031				GBM(166;478 2018 3875 5042 31983)|Esophageal Squamous(77;407 1232 1405 14297 15272)	uc002fvg.3																			0				ovary(1)	1						c.(490-492)aaC>aaT		Homo sapiens olfactory receptor, family 3, subfamily A, member 2 (OR3A2), mRNA.							153.0	141.0	145.0					17																	3181738		2203	4300	6503	SO:0001819	synonymous_variant	4995				sensory perception of smell	integral to plasma membrane	olfactory receptor activity	g.chr17:3181738G>A	U04713	CCDS42233.1	17p13.3	2012-08-09				ENSG00000221882		"""GPCR / Class A : Olfactory receptors"""	8283	protein-coding gene	gene with protein product						8921386, 10673334	Standard	NM_002551		Approved	OLFRA04, OR228, OR17-228	uc002fvg.3	P47893		ENST00000408891.2:c.492C>T	17.37:g.3181738G>A							p.N164N	NM_002551	NP_002542	P47893	OR3A2_HUMAN			0	531	-			164					Q6IFM3|Q9P1Q3	Silent	SNP	ENST00000408891.2	37	c.492C>T	CCDS42233.1																																																																																				0.582	OR3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438370.1		
DNAH2	146754	broad.mit.edu	37	17	7736507	7736507	+	Missense_Mutation	SNP	G	G	A	rs145226741		TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr17:7736507G>A	ENST00000572933.1	+	85	14557	c.13097G>A	c.(13096-13098)cGg>cAg	p.R4366Q	DNAH2_ENST00000389173.2_Missense_Mutation_p.R4366Q			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4366					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ATCCACTTCCGGCCTGCAGAG	0.622													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18120	0.0		0.0	False		,,,				2504	0.0					uc002giu.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(13096-13098)cGg>cAg		Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.		G	GLN/ARG	3,4403	6.2+/-15.9	0,3,2200	37.0	38.0	37.0		13097	2.9	1.0	17	dbSNP_134	37	0,8600		0,0,4300	no	missense	DNAH2	NM_020877.2	43	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	possibly-damaging	4366/4428	7736507	3,13003	2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7736507G>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.13097G>A	17.37:g.7736507G>A	ENSP00000458355:p.Arg4366Gln						p.R4366Q	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			83	13111	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	4366					A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.13097G>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.002869	0.54254	6.81E-4	0.0	ENSG00000183914	ENST00000389173	T	0.08458	3.09	3.9	2.92	0.33932	Dynein heavy chain (1);	0.197729	0.40554	N	0.001075	T	0.07188	0.0182	L	0.38175	1.15	0.80722	D	1	B	0.27823	0.19	B	0.32677	0.15	T	0.27297	-1.0078	10	0.28530	T	0.3	.	7.7207	0.28731	0.1846:0.0:0.8154:0.0	.	4366	Q9P225	DYH2_HUMAN	Q	4366	ENSP00000373825:R4366Q	ENSP00000373825:R4366Q	R	+	2	0	DNAH2	7677232	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.785000	0.38684	2.191000	0.70037	0.484000	0.47621	CGG		0.622	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877	
MLLT6	4302	broad.mit.edu	37	17	36873166	36873166	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr17:36873166C>T	ENST00000325718.7	+	10	1674	c.1583C>T	c.(1582-1584)tCc>tTc	p.S528F	CTB-58E17.9_ENST00000579499.1_RNA|MIR4726_ENST00000577947.1_RNA	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	528					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					GGAGGTCTGTCCTCCCGAACC	0.637			T	MLL	AL																																	uc002hqi.4				Dom	yes		17	17q21	4302	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17)"""			L	MLL		AL		0				breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						c.(1582-1584)tCc>tTc		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (MLLT6), mRNA.																																				SO:0001583	missense	4302				regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding	g.chr17:36873166C>T		CCDS11327.1	17q21	2014-04-10	2001-11-28		ENSG00000108292	ENSG00000275023		"""Zinc fingers, PHD-type"""	7138	protein-coding gene	gene with protein product	"""Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6"", ""trithorax homolog"""	600328	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6"""			8058765	Standard	NM_005937		Approved	AF17, FLJ23480	uc002hqi.4	P55198	OTTHUMG00000188498	ENST00000325718.7:c.1583C>T	17.37:g.36873166C>T	ENSP00000316426:p.Ser528Phe					MLLT6_uc002hqj.3_Intron|MLLT6_uc002hqk.4_5'Flank|MIR4726_uc021twg.1_5'Flank	p.S528F	NM_005937	NP_005928	P55198	AF17_HUMAN			9	1596	+	Breast(7;4.43e-21)		528					Q59F28|Q96IU3|Q9H5F6|Q9UF49	Missense_Mutation	SNP	ENST00000325718.7	37	c.1583C>T	CCDS11327.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.894369	0.72639	.	.	ENSG00000108292	ENST00000325718	T	0.15952	2.38	5.17	5.17	0.71159	.	0.341998	0.31233	N	0.008009	T	0.14527	0.0351	N	0.22421	0.69	0.23896	N	0.996534	B	0.22480	0.07	B	0.28011	0.085	T	0.19549	-1.0302	10	0.66056	D	0.02	.	14.0319	0.64619	0.0:1.0:0.0:0.0	.	528	P55198	AF17_HUMAN	F	528	ENSP00000316426:S528F	ENSP00000316426:S528F	S	+	2	0	MLLT6	34126692	0.990000	0.36364	1.000000	0.80357	0.916000	0.54674	2.959000	0.49153	2.700000	0.92200	0.561000	0.74099	TCC		0.637	MLLT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256799.1	NM_005937	
OR4D2	124538	broad.mit.edu	37	17	56247707	56247707	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr17:56247707G>A	ENST00000545221.1	+	1	691	c.691G>A	c.(691-693)Gag>Aag	p.E231K		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, 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)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						ACATCCAGGGGAGGCAAGAAG	0.537																																						uc010wnp.2																			0				breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						c.(691-693)Gag>Aag		Homo sapiens olfactory receptor, family 4, subfamily D, member 2 (OR4D2), mRNA.							170.0	116.0	135.0					17																	56247707		2203	4300	6503	SO:0001583	missense	124538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:56247707G>A		CCDS32688.1	17q22	2013-09-23			ENSG00000255713	ENSG00000255713		"""GPCR / Class A : Olfactory receptors"""	8294	protein-coding gene	gene with protein product							Standard	NM_001004707		Approved		uc010wnp.2	P58180	OTTHUMG00000178801	ENST00000545221.1:c.691G>A	17.37:g.56247707G>A	ENSP00000441354:p.Glu231Lys						p.E231K	NM_001004707	NP_001004707	P58180	OR4D2_HUMAN			0	691	+			231					Q6IFN8|Q96R75	Missense_Mutation	SNP	ENST00000545221.1	37	c.691G>A	CCDS32688.1	.	.	.	.	.	.	.	.	.	.	G	9.287	1.049530	0.19827	.	.	ENSG00000255713	ENST00000545221	T	0.00174	8.62	5.71	2.59	0.31030	GPCR, rhodopsin-like superfamily (1);	0.113538	0.38897	N	0.001525	T	0.00271	0.0008	M	0.68317	2.08	0.09310	N	1	B	0.15473	0.013	B	0.22880	0.042	T	0.40478	-0.9561	10	0.59425	D	0.04	-6.5905	15.7094	0.77612	0.0:0.5784:0.4216:0.0	.	231	P58180	OR4D2_HUMAN	K	231	ENSP00000441354:E231K	ENSP00000441354:E231K	E	+	1	0	OR4D2	53602706	0.000000	0.05858	0.025000	0.17156	0.476000	0.33039	0.402000	0.20965	0.420000	0.25954	-0.316000	0.08728	GAG		0.537	OR4D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443366.1		
TMEM241	85019	broad.mit.edu	37	18	20979531	20979531	+	Splice_Site	SNP	A	A	T			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr18:20979531A>T	ENST00000383233.3	-	4	330	c.278T>A	c.(277-279)cTg>cAg	p.L93Q	TMEM241_ENST00000450466.2_Intron|TMEM241_ENST00000399707.1_Splice_Site_p.L67Q|TMEM241_ENST00000542162.1_Splice_Site_p.L93Q	NM_032933.4	NP_116322.3	Q24JQ0	TM241_HUMAN	transmembrane protein 241	93						integral component of membrane (GO:0016021)											AATACTTACCAGTCTGGACAA	0.443																																						uc002kuf.3																			0											c.e4+1		Homo sapiens transmembrane protein 241 (TMEM241), mRNA.							140.0	132.0	135.0					18																	20979531		2203	4300	6503	SO:0001630	splice_region_variant	85019					integral to membrane		g.chr18:20979531A>T	BC082984	CCDS11876.2	18q11.2	2011-11-25	2011-11-25	2011-11-25	ENSG00000134490	ENSG00000134490			31723	protein-coding gene	gene with protein product		615430	"""chromosome 18 open reading frame 45"""	C18orf45		12477932	Standard	NM_032933		Approved	MGC11386, FLJ44259	uc002kuf.3	Q24JQ0	OTTHUMG00000131771	ENST00000383233.3:c.279+1T>A	18.37:g.20979531A>T						TMEM241_uc010xaq.2_Intron|TMEM241_uc010xar.2_Splice_Site|TMEM241_uc002kug.3_Splice_Site|TMEM241_uc002kuh.3_Splice_Site	p.L93_splice	NM_032933	NP_116322	Q24JQ0	CR045_HUMAN			4	388	-			93					I0J130|Q6ZTS7|Q6ZW41	Missense_Mutation	SNP	ENST00000383233.3	37	c.279_splice	CCDS11876.2	.	.	.	.	.	.	.	.	.	.	A	12.85	2.061641	0.36373	.	.	ENSG00000134490	ENST00000383233;ENST00000542162;ENST00000399707	T;T;T	0.72394	0.86;-0.65;0.86	5.36	5.36	0.76844	.	0.000000	0.56097	D	0.000029	T	0.82051	0.4953	M	0.72894	2.215	0.48087	D	0.999584	D	0.89917	1.0	D	0.83275	0.996	D	0.84012	0.0349	10	0.87932	D	0	-32.4244	11.7222	0.51689	1.0:0.0:0.0:0.0	.	93	Q24JQ0	CR045_HUMAN	Q	93;93;67	ENSP00000372720:L93Q;ENSP00000440152:L93Q;ENSP00000382615:L67Q	ENSP00000372720:L93Q	L	-	2	0	C18orf45	19233529	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.379000	0.66196	2.029000	0.59856	0.460000	0.39030	CTG		0.443	TMEM241-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254702.3	NM_032933	Missense_Mutation
LGALS13	29124	broad.mit.edu	37	19	40095888	40095888	+	Nonsense_Mutation	SNP	C	C	T	rs534285827		TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr19:40095888C>T	ENST00000221797.4	+	3	208	c.163C>T	c.(163-165)Cga>Tga	p.R55*		NM_013268.2	NP_037400.1	Q9UHV8	PP13_HUMAN	lectin, galactoside-binding, soluble, 13	55	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)|phospholipid metabolic process (GO:0006644)		carbohydrate binding (GO:0030246)|lysophospholipase activity (GO:0004622)			lung(5)|ovary(1)|urinary_tract(1)	7	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			CTTCCGTTTCCGAGTGCACTT	0.498													.|||	1	0.000199681	0.0	0.0	5008	,	,		23270	0.0		0.0	False		,,,				2504	0.001					uc002omb.3																			0		p.F54F(1)		lung(5)|ovary(1)|urinary_tract(1)	7						c.(163-165)Cga>Tga		Homo sapiens lectin, galactoside-binding, soluble, 13 (LGALS13), mRNA.							242.0	178.0	200.0					19																	40095888		2203	4300	6503	SO:0001587	stop_gained	29124				lipid catabolic process|phospholipid metabolic process		carboxylesterase activity|lysophospholipase activity|sugar binding	g.chr19:40095888C>T	AF117383	CCDS33024.1	19q13.2	2014-03-19	2008-07-25		ENSG00000105198	ENSG00000105198		"""Lectins, galactoside-binding"""	15449	protein-coding gene	gene with protein product	"""galectin 13"""	608717				6856484, 10527825	Standard	NM_013268		Approved	PP13, PLAC8	uc002omb.3	Q9UHV8	OTTHUMG00000183073	ENST00000221797.4:c.163C>T	19.37:g.40095888C>T	ENSP00000221797:p.Arg55*						p.R55*	NM_013268	NP_037400	Q9UHV8	PP13_HUMAN	Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)		2	203	+	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		55			Galectin.		C5HZ15	Nonsense_Mutation	SNP	ENST00000221797.4	37	c.163C>T	CCDS33024.1	.	.	.	.	.	.	.	.	.	.	.	7.669	0.686497	0.14973	.	.	ENSG00000105198	ENST00000221797	.	.	.	0.744	-1.49	0.08718	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	.	.	.	.	.	.	.	X	55	.	ENSP00000221797:R55X	R	+	1	2	LGALS13	44787728	0.023000	0.18921	0.001000	0.08648	0.015000	0.08874	-1.085000	0.03390	-2.080000	0.00870	-2.332000	0.00249	CGA		0.498	LGALS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464968.1	NM_013268	
CEACAM7	1087	broad.mit.edu	37	19	42187746	42187746	+	Missense_Mutation	SNP	G	G	A	rs369677539		TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr19:42187746G>A	ENST00000006724.3	-	3	877	c.676C>T	c.(676-678)Cgc>Tgc	p.R226C	CEACAM7_ENST00000338196.4_Intron|CEACAM7_ENST00000602225.1_Intron|CEACAM7_ENST00000599715.1_5'Flank|CEACAM7_ENST00000401731.1_Missense_Mutation_p.R226C	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	226	Ig-like C2-type.					anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		GGGTCACTGCGGCTGGCACCC	0.552																																						uc002ori.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						c.(676-678)Cgc>Tgc		Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 7 (CEACAM7), mRNA.		G	CYS/ARG	0,4406		0,0,2203	165.0	162.0	163.0		676	1.7	0.2	19		163	1,8599	1.2+/-3.3	0,1,4299	no	missense	CEACAM7	NM_006890.3	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	226/266	42187746	1,13005	2203	4300	6503	SO:0001583	missense	1087					anchored to membrane|integral to membrane|plasma membrane		g.chr19:42187746G>A	X98311	CCDS12583.1	19q13.2	2013-01-29			ENSG00000007306	ENSG00000007306		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1819	protein-coding gene	gene with protein product	"""carcinoembryonic antigen gene family member 2"""			CGM2		7806520, 9135022	Standard	XM_005278379		Approved	CEA	uc002ori.1	Q14002	OTTHUMG00000151063	ENST00000006724.3:c.676C>T	19.37:g.42187746G>A	ENSP00000006724:p.Arg226Cys					CEACAM7_uc010ehx.2_Missense_Mutation_p.R226C|CEACAM7_uc010ehy.1_Intron	p.R226C	NM_006890	NP_008821	Q14002	CEAM7_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)	2	678	-			226			Ig-like C2-type.		A8K848|O15148|O15149|Q0VAC1|Q13983|Q9UPJ2	Missense_Mutation	SNP	ENST00000006724.3	37	c.676C>T	CCDS12583.1	.	.	.	.	.	.	.	.	.	.	G	4.401	0.074019	0.08485	0.0	1.16E-4	ENSG00000007306	ENST00000006724;ENST00000412062;ENST00000401731	T;T	0.12774	2.65;2.65	3.02	1.72	0.24424	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.23532	0.0569	M	0.86502	2.82	0.09310	N	0.999998	B	0.31290	0.318	B	0.38194	0.267	T	0.24261	-1.0165	9	0.72032	D	0.01	.	6.1342	0.20221	0.0:0.0:0.6032:0.3968	.	226	Q14002	CEAM7_HUMAN	C	226;205;226	ENSP00000006724:R226C;ENSP00000385932:R226C	ENSP00000006724:R226C	R	-	1	0	CEACAM7	46879586	0.000000	0.05858	0.219000	0.23793	0.110000	0.19582	-0.329000	0.07935	1.388000	0.46506	0.313000	0.20887	CGC		0.552	CEACAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321145.1	NM_006890	
BCAM	4059	broad.mit.edu	37	19	45322967	45322967	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr19:45322967C>T	ENST00000270233.6	+	13	1769	c.1747C>T	c.(1747-1749)Cgg>Tgg	p.R583W	BCAM_ENST00000589651.1_Missense_Mutation_p.R583W	NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	583					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	laminin binding (GO:0043236)|laminin receptor activity (GO:0005055)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				CCGCCAGCGGCGGGAGAAGGG	0.642																																						uc002ozu.3																			0				central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22						c.(1747-1749)Cgg>Tgg		Homo sapiens basal cell adhesion molecule (Lutheran blood group) (BCAM), transcript variant 1, mRNA.							14.0	17.0	16.0					19																	45322967		2183	4243	6426	SO:0001583	missense	4059				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity	g.chr19:45322967C>T	X83425	CCDS12644.1, CCDS42575.1	19q12-q13	2014-07-18	2006-02-23	2006-01-12		ENSG00000187244		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6722	protein-coding gene	gene with protein product		612773	"""Lutheran blood group (Auberger b antigen included)"", ""basal cell adhesion molecule (Lu and Au blood groups)"""	LU			Standard	NM_005581		Approved	CD239	uc002ozu.4	P50895		ENST00000270233.6:c.1747C>T	19.37:g.45322967C>T	ENSP00000270233:p.Arg583Trp					BCAM_uc002ozt.1_Missense_Mutation_p.R583W	p.R583W	NM_005581	NP_005572	P50895	BCAM_HUMAN			12	1791	+	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)	583					A8MYF9|A9YWT5|A9YWT6|Q86VC7	Missense_Mutation	SNP	ENST00000270233.6	37	c.1747C>T	CCDS12644.1	.	.	.	.	.	.	.	.	.	.	.	7.544	0.661234	0.14645	.	.	ENSG00000187244	ENST00000270233;ENST00000391955	T;T	0.60299	0.2;0.29	4.08	0.262	0.15597	.	.	.	.	.	T	0.32102	0.0818	N	0.08118	0	0.09310	N	1	D	0.57257	0.979	B	0.40444	0.329	T	0.19910	-1.0291	9	0.66056	D	0.02	-5.8905	6.6117	0.22755	0.1102:0.3595:0.5303:0.0	.	583	P50895	BCAM_HUMAN	W	583	ENSP00000270233:R583W;ENSP00000375817:R583W	ENSP00000270233:R583W	R	+	1	2	BCAM	50014807	0.000000	0.05858	0.042000	0.18584	0.020000	0.10135	-0.632000	0.05489	0.319000	0.23209	-0.366000	0.07423	CGG		0.642	BCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453220.1	NM_005581	
FPR2	2358	broad.mit.edu	37	19	52272072	52272072	+	Missense_Mutation	SNP	G	G	A	rs192933693	byFrequency	TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr19:52272072G>A	ENST00000598776.1	+	2	933	c.161G>A	c.(160-162)cGg>cAg	p.R54Q	FPR2_ENST00000598953.1_Missense_Mutation_p.R54Q|FPR2_ENST00000340023.6_Missense_Mutation_p.R54Q	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	54					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|N-formyl peptide receptor activity (GO:0004982)			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						GCTGGATTCCGGATGACACGC	0.562													G|||	2	0.000399361	0.0015	0.0	5008	,	,		20931	0.0		0.0	False		,,,				2504	0.0					uc002pxr.3																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						c.(160-162)cGg>cAg		Homo sapiens formyl peptide receptor 2 (FPR2), transcript variant 2, mRNA.							200.0	158.0	172.0					19																	52272072		2203	4300	6503	SO:0001583	missense	2358				cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52272072G>A	M88107	CCDS12840.1	19q13.3-q13.4	2012-08-10	2008-04-17	2008-04-17		ENSG00000171049		"""GPCR / Class A : Formyl peptide receptors"", ""GPCR / Class A : Leukotriene receptors"""	3827	protein-coding gene	gene with protein product		136538	"""formyl peptide receptor-like 1"""	FPRL1		9054386	Standard	NM_001462		Approved	LXA4R, HM63, FPRH2, FMLPX, FPR2A, FMLP-R-II, ALXR	uc002pxr.3	P25090		ENST00000598776.1:c.161G>A	19.37:g.52272072G>A	ENSP00000468897:p.Arg54Gln					FPR2_uc002pxs.4_Missense_Mutation_p.R54Q|FPR2_uc010epf.3_Missense_Mutation_p.R54Q|FPR2_uc021uyp.1_Missense_Mutation_p.R54Q	p.R54Q	NM_001005738	NP_001453	P25090	FPR2_HUMAN			1	206	+			54					A8K3E2	Missense_Mutation	SNP	ENST00000598776.1	37	c.161G>A	CCDS12840.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	.	17.74	3.464087	0.63513	.	.	ENSG00000171049	ENST00000340023	T	0.40756	1.02	3.61	2.56	0.30785	GPCR, rhodopsin-like superfamily (1);	0.335546	0.27696	U	0.018226	T	0.33498	0.0865	L	0.41632	1.29	0.31442	N	0.671801	P	0.41345	0.746	B	0.42188	0.379	T	0.34229	-0.9837	10	0.32370	T	0.25	.	9.2399	0.37489	0.1118:0.0:0.8882:0.0	.	54	P25090	FPR2_HUMAN	Q	54	ENSP00000340191:R54Q	ENSP00000340191:R54Q	R	+	2	0	FPR2	56963884	0.998000	0.40836	1.000000	0.80357	0.931000	0.56810	0.896000	0.28377	0.885000	0.36088	-0.333000	0.08304	CGG		0.562	FPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466912.2	NM_001005738	
CCDC88A	55704	broad.mit.edu	37	2	55561635	55561635	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr2:55561635G>C	ENST00000436346.1	-	15	3163	c.2322C>G	c.(2320-2322)aaC>aaG	p.N774K	AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000336838.6_Missense_Mutation_p.N774K|CCDC88A_ENST00000263630.8_Missense_Mutation_p.N774K|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000608103.1_RNA|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599475.1_RNA|CCDC88A_ENST00000413716.2_Missense_Mutation_p.N774K	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	774					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TTTTATTGCTGTTCTCTAAAG	0.338																																						uc002ryv.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						c.(2320-2322)aaC>aaG		Homo sapiens coiled-coil domain containing 88A (CCDC88A), transcript variant 1, mRNA.							95.0	94.0	95.0					2																	55561635		2202	4299	6501	SO:0001583	missense	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55561635G>C	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.2322C>G	2.37:g.55561635G>C	ENSP00000410608:p.Asn774Lys					CCDC88A_uc010ypa.1_Missense_Mutation_p.N774K|CCDC88A_uc010yoz.1_Missense_Mutation_p.N774K|CCDC88A_uc010ypb.1_Missense_Mutation_p.N676K|CCDC88A_uc002ryu.2_Missense_Mutation_p.N57K|CCDC88A_uc002ryw.3_Missense_Mutation_p.N57K	p.N774K	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN			14	3164	-			774					A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37	c.2322C>G		.	.	.	.	.	.	.	.	.	.	G	14.23	2.473732	0.43942	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716	T;T;T;T	0.14266	2.52;2.77;2.72;2.54	5.04	-1.82	0.07857	.	0.000000	0.51477	U	0.000091	T	0.21761	0.0524	L	0.59436	1.845	0.80722	D	1	P;D;P;D;D	0.71674	0.902;0.998;0.949;0.998;0.996	P;D;P;D;D	0.80764	0.778;0.994;0.621;0.971;0.937	T	0.43130	-0.9410	10	0.05620	T	0.96	-16.9525	10.3683	0.44038	0.5449:0.0:0.4551:0.0	.	774;774;774;774;774	B7ZM78;Q3V6T2-2;Q3V6T2;Q3V6T2-3;Q3V6T2-4	.;.;GRDN_HUMAN;.;.	K	774	ENSP00000338728:N774K;ENSP00000263630:N774K;ENSP00000410608:N774K;ENSP00000404431:N774K	ENSP00000263630:N774K	N	-	3	2	CCDC88A	55415139	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	1.237000	0.32695	-0.134000	0.11516	0.456000	0.33151	AAC		0.338	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571	
RMND5A	64795	broad.mit.edu	37	2	86992995	86992995	+	Silent	SNP	G	G	A			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr2:86992995G>A	ENST00000283632.4	+	6	1197	c.702G>A	c.(700-702)ttG>ttA	p.L234L	RMND5A_ENST00000472843.1_3'UTR	NM_022780.3	NP_073617.1	Q9H871	RMD5A_HUMAN	required for meiotic nuclear division 5 homolog A (S. cerevisiae)	234										kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	17						TTCAGGTTTTGATGGGAAGCC	0.428																																						uc002srr.2																			0				kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	17						c.(700-702)ttG>ttA		Homo sapiens required for meiotic nuclear division 5 homolog A (S. cerevisiae) (RMND5A), mRNA.							125.0	105.0	112.0					2																	86992995		2203	4300	6503	SO:0001819	synonymous_variant	64795							g.chr2:86992995G>A	BC012165	CCDS1991.1	2p11.2	2012-07-20			ENSG00000153561	ENSG00000153561			25850	protein-coding gene	gene with protein product	"""GID complex subunit 2 homolog A"""					12477932	Standard	NM_022780		Approved	FLJ13910, RMD5, GID2, GID2A	uc002srs.4	Q9H871	OTTHUMG00000130262	ENST00000283632.4:c.702G>A	2.37:g.86992995G>A						RMND5A_uc002srs.4_Intron	p.L234L	NM_022780	NP_073617	Q9H871	RMD5A_HUMAN			5	1079	+			234					D6W5M6|Q6NTF0|Q9H6W5|Q9H9H2	Silent	SNP	ENST00000283632.4	37	c.702G>A	CCDS1991.1																																																																																				0.428	RMND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252591.2	NM_022780	
DDX18	8886	broad.mit.edu	37	2	118587005	118587005	+	Silent	SNP	G	G	T			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr2:118587005G>T	ENST00000263239.2	+	13	1961	c.1833G>T	c.(1831-1833)ctG>ctT	p.L611L		NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	611					ATP catabolic process (GO:0006200)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGGTTGCTCTGTCATTTGGTT	0.403																																						uc002tlh.1																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1831-1833)ctG>ctT		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 (DDX18), mRNA.							160.0	153.0	155.0					2																	118587005		2203	4300	6503	SO:0001819	synonymous_variant	8886						ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr2:118587005G>T	X98743	CCDS2120.1	2q21.2	2008-02-05	2003-06-13		ENSG00000088205	ENSG00000088205		"""DEAD-boxes"""	2741	protein-coding gene	gene with protein product		606355	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 (Myc-regulated)"""			8861962	Standard	NM_006773		Approved	MrDb	uc002tlh.1	Q9NVP1	OTTHUMG00000058521	ENST00000263239.2:c.1833G>T	2.37:g.118587005G>T							p.L611L	NM_006773	NP_006764	Q9NVP1	DDX18_HUMAN			12	1932	+			611					Q6GTZ9|Q6IAU4|Q92732|Q9BQB7	Silent	SNP	ENST00000263239.2	37	c.1833G>T	CCDS2120.1																																																																																				0.403	DDX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129632.3	NM_006773	
TTN	7273	broad.mit.edu	37	2	179556814	179556814	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr2:179556814G>T	ENST00000591111.1	-	119	30964	c.30740C>A	c.(30739-30741)cCc>cAc	p.P10247H	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P9320H|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.P10564H|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.|Pro-rich.				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)			GGGTTTCTTGGGAACCTCAGG	0.433																																						uc021vsy.1																			0				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						c.(27958-27960)cCc>cAc		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							87.0	82.0	84.0					2																	179556814		1828	4098	5926	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179556814G>T	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.30740C>A	2.37:g.179556814G>T	ENSP00000465570:p.Pro10247His					TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P5981H|TTN_uc010fre.1_Missense_Mutation_p.P431H	p.P9320H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		117	28184	-			10247			Ig-like 76.		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.27959C>A		.	.	.	.	.	.	.	.	.	.	G	17.92	3.505718	0.64410	.	.	ENSG00000155657	ENST00000342992;ENST00000414766;ENST00000473181	T	0.73047	-0.71	5.56	5.56	0.83823	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	D	0.86920	0.6049	M	0.86953	2.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.88699	0.3214	9	0.87932	D	0	.	19.1359	0.93428	0.0:0.0:1.0:0.0	.	10247;10247	Q8WZ42;Q8WZ42-5	TITIN_HUMAN;.	H	9320;442;74	ENSP00000343764:P9320H	ENSP00000343764:P9320H	P	-	2	0	TTN	179265059	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.986000	0.56937	2.624000	0.88883	0.650000	0.86243	CCC		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179569962	179569962	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr2:179569962C>T	ENST00000591111.1	-	101	28816	c.28592G>A	c.(28591-28593)cGa>cAa	p.R9531Q	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R8604Q|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.R9848Q|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	13610					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)			AAGAAGACCTCGGAAGTCAGT	0.383																																						uc021vsy.1																			0				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						c.(25810-25812)cGa>cAa		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							113.0	109.0	110.0					2																	179569962		1882	4110	5992	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179569962C>T	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.28592G>A	2.37:g.179569962C>T	ENSP00000465570:p.Arg9531Gln					TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R5265Q	p.R8604Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		99	26036	-			9531					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.25811G>A		.	.	.	.	.	.	.	.	.	.	C	22.2	4.262051	0.80358	.	.	ENSG00000155657	ENST00000342992	D	0.97665	-4.48	5.82	5.82	0.92795	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	D	0.98513	0.9504	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.99222	1.0879	9	0.87932	D	0	.	20.088	0.97803	0.0:1.0:0.0:0.0	.	9531	Q8WZ42	TITIN_HUMAN	Q	8604	ENSP00000343764:R8604Q	ENSP00000343764:R8604Q	R	-	2	0	TTN	179278207	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.757000	0.85209	2.739000	0.93911	0.655000	0.94253	CGA		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
SPTLC3	55304	broad.mit.edu	37	20	13029756	13029756	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr20:13029756C>A	ENST00000399002.2	+	2	555	c.281C>A	c.(280-282)gCt>gAt	p.A94D	SPTLC3_ENST00000378194.4_Missense_Mutation_p.A94D|SPTLC3_ENST00000476791.1_3'UTR	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	94					small molecule metabolic process (GO:0044281)|sphingoid biosynthetic process (GO:0046520)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						TGCAACGCAGCTGTGGAAAGA	0.423																																						uc002wod.1																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						c.(280-282)gCt>gAt		Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA.	Pyridoxal Phosphate(DB00114)						122.0	118.0	119.0					20																	13029756		2203	4300	6503	SO:0001583	missense	55304				sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr20:13029756C>A	AL109983	CCDS13115.2	20p12.1	2011-07-05	2006-12-21	2006-12-21	ENSG00000172296	ENSG00000172296	2.3.1.50		16253	protein-coding gene	gene with protein product		611120	"""chromosome 20 open reading frame 38"", ""serine palmitoyltransferase, long chain base subunit 2-like (aminotransferase 2)"""	C20orf38, SPTLC2L		17023427	Standard	NM_018327		Approved	LCB2B, FLJ11112, hLCB2b	uc002wod.1	Q9NUV7	OTTHUMG00000031899	ENST00000399002.2:c.281C>A	20.37:g.13029756C>A	ENSP00000381968:p.Ala94Asp					SPTLC3_uc002woc.3_Missense_Mutation_p.A94D	p.A94D	NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN			1	570	+			94					A2A2I4|B9EK64|Q05DQ8|Q5T1U4|Q9H1L1|Q9H1Z0	Missense_Mutation	SNP	ENST00000399002.2	37	c.281C>A	CCDS13115.2	.	.	.	.	.	.	.	.	.	.	C	17.42	3.386271	0.61956	.	.	ENSG00000172296	ENST00000434210;ENST00000399002;ENST00000378194;ENST00000450297	T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.82852	0.5127	M	0.67569	2.06	0.80722	D	1	D;D	0.89917	0.991;1.0	P;D	0.83275	0.862;0.996	T	0.80688	-0.1271	10	0.35671	T	0.21	-16.6857	18.3527	0.90344	0.0:1.0:0.0:0.0	.	94;94	Q9NUV7;Q9NUV7-2	SPTC3_HUMAN;.	D	94;94;94;67	ENSP00000389749:A94D;ENSP00000381968:A94D;ENSP00000367436:A94D;ENSP00000409125:A67D	ENSP00000367436:A94D	A	+	2	0	SPTLC3	12977756	1.000000	0.71417	0.911000	0.35937	0.055000	0.15305	7.095000	0.76952	2.695000	0.91970	0.655000	0.94253	GCT		0.423	SPTLC3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254544.1	NM_018327	
PLCG1	5335	broad.mit.edu	37	20	39788360	39788360	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr20:39788360A>G	ENST00000373271.1	+	2	737	c.332A>G	c.(331-333)tAt>tGt	p.Y111C	PLCG1_ENST00000244007.3_Missense_Mutation_p.Y111C|PLCG1_ENST00000373272.2_Missense_Mutation_p.Y111C	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	111	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|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)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GTCATTCTCTATGGAATGGAA	0.537																																						uc002xjp.1																			0				breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46						c.(331-333)tAt>tGt		Homo sapiens phospholipase C, gamma 1 (PLCG1), transcript variant 2, mRNA.							101.0	104.0	103.0					20																	39788360		2203	4300	6503	SO:0001583	missense	5335				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity	g.chr20:39788360A>G	M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"", ""SH2 domain containing"""	9065	protein-coding gene	gene with protein product		172420	"""phospholipase C, gamma 1 (formerly subtype 148)"""	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.332A>G	20.37:g.39788360A>G	ENSP00000362368:p.Tyr111Cys					PLCG1_uc002xjo.1_Missense_Mutation_p.Y111C	p.Y111C	NM_182811	NP_877963	P19174	PLCG1_HUMAN			1	453	+		Myeloproliferative disorder(115;0.00878)	111			PH 1.		B7ZLY7|B9EGH4|E1P5W4|Q2V575	Missense_Mutation	SNP	ENST00000373271.1	37	c.332A>G	CCDS13314.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.677680	0.88445	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	T;T;T	0.65732	-0.17;-0.17;-0.17	5.07	5.07	0.68467	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.80959	0.4724	M	0.86268	2.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.84616	0.0681	10	0.87932	D	0	.	14.8326	0.70159	1.0:0.0:0.0:0.0	.	111;111	P19174;A2A284	PLCG1_HUMAN;.	C	111	ENSP00000244007:Y111C;ENSP00000362368:Y111C;ENSP00000362369:Y111C	ENSP00000244007:Y111C	Y	+	2	0	PLCG1	39221774	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.906000	0.92626	1.912000	0.55364	0.528000	0.53228	TAT		0.537	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811	
RRP1B	23076	broad.mit.edu	37	21	45107441	45107441	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr21:45107441C>T	ENST00000340648.4	+	13	1303	c.1186C>T	c.(1186-1188)Ctt>Ttt	p.L396F		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	396					negative regulation of phosphatase activity (GO:0010923)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleolus (GO:0005730)|nucleus (GO:0005634)|preribosome, small subunit precursor (GO:0030688)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		TGAAAGCAGTCTTCAAAAGAG	0.532																																						uc002zdk.3																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21						c.(1186-1188)Ctt>Ttt		Homo sapiens ribosomal RNA processing 1 homolog B (S. cerevisiae) (RRP1B), mRNA.							55.0	65.0	62.0					21																	45107441		2151	4216	6367	SO:0001583	missense	23076				rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding	g.chr21:45107441C>T	AK124620	CCDS33577.1	21q22.3	2014-06-13	2013-07-02	2007-03-26	ENSG00000160208	ENSG00000160208			23818	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 136"""	610654	"""KIAA0179"", ""ribosomal RNA processing 1 homolog B (S. cerevisiae)"""	KIAA0179			Standard	NM_015056		Approved	Nnp1, RRP1, PPP1R136	uc002zdk.3	Q14684	OTTHUMG00000086872	ENST00000340648.4:c.1186C>T	21.37:g.45107441C>T	ENSP00000339145:p.Leu396Phe					RRP1B_uc002zdl.3_5'UTR	p.L396F	NM_015056	NP_055871	Q14684	RRP1B_HUMAN		STAD - Stomach adenocarcinoma(101;0.178)	12	1300	+			396					Q8TBZ4	Missense_Mutation	SNP	ENST00000340648.4	37	c.1186C>T	CCDS33577.1	.	.	.	.	.	.	.	.	.	.	C	6.620	0.482789	0.12581	.	.	ENSG00000160208	ENST00000340648	T	0.01051	5.4	4.67	-9.34	0.00636	.	1.557970	0.03609	N	0.234509	T	0.01156	0.0038	L	0.40543	1.245	0.09310	N	1	P	0.40476	0.718	B	0.36030	0.216	T	0.38672	-0.9650	10	0.87932	D	0	0.3556	8.8892	0.35423	0.2173:0.4345:0.3482:0.0	.	396	Q14684	RRP1B_HUMAN	F	396	ENSP00000339145:L396F	ENSP00000339145:L396F	L	+	1	0	RRP1B	43931869	0.000000	0.05858	0.000000	0.03702	0.147000	0.21601	-2.074000	0.01375	-1.387000	0.02095	-0.397000	0.06425	CTT		0.532	RRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195651.1	NM_015056	
CABIN1	23523	broad.mit.edu	37	22	24487684	24487684	+	Missense_Mutation	SNP	G	G	A	rs528073328		TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr22:24487684G>A	ENST00000398319.2	+	24	4058	c.3673G>A	c.(3673-3675)Gtt>Att	p.V1225I	CABIN1_ENST00000263119.5_Missense_Mutation_p.V1225I|CABIN1_ENST00000405822.2_Missense_Mutation_p.V1175I	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1225					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GCCACCCACCGTTTACTTGCT	0.612													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18834	0.0		0.0	False		,,,				2504	0.0					uc002zzi.1																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(3673-3675)Gtt>Att		Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.							85.0	68.0	74.0					22																	24487684		2203	4300	6503	SO:0001583	missense	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24487684G>A	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.3673G>A	22.37:g.24487684G>A	ENSP00000381364:p.Val1225Ile					CABIN1_uc021wnc.1_Missense_Mutation_p.V1175I|CABIN1_uc002zzj.1_Missense_Mutation_p.V1175I|CABIN1_uc002zzl.2_Missense_Mutation_p.V1225I	p.V1225I	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN			23	3800	+			1225					G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	c.3673G>A	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.033390	0.35893	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319	T;T;T	0.25912	1.77;1.77;1.77	4.79	2.68	0.31781	Tetratricopeptide-like helical (1);	0.140254	0.49305	D	0.000150	T	0.11153	0.0272	N	0.16790	0.44	0.34117	D	0.663644	P;P	0.40638	0.725;0.605	B;B	0.26770	0.073;0.033	T	0.23048	-1.0199	10	0.48119	T	0.1	.	8.3958	0.32557	0.2468:0.0:0.7532:0.0	.	1175;1225	G5E9F3;Q9Y6J0	.;CABIN_HUMAN	I	1225;1175;1225	ENSP00000263119:V1225I;ENSP00000384694:V1175I;ENSP00000381364:V1225I	ENSP00000263119:V1225I	V	+	1	0	CABIN1	22817684	1.000000	0.71417	0.013000	0.15412	0.953000	0.61014	4.876000	0.63079	0.711000	0.32018	0.585000	0.79938	GTT		0.612	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295	
FGD5	152273	broad.mit.edu	37	3	14862435	14862435	+	Silent	SNP	C	C	T			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr3:14862435C>T	ENST00000285046.5	+	1	1967	c.1857C>T	c.(1855-1857)ttC>ttT	p.F619F	FGD5_ENST00000543601.1_Silent_p.F378F	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	619					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CACCTCCTTTCGACCTGGCCT	0.557																																						uc003bzc.3																			0				NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						c.(1855-1857)ttC>ttT		Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.							52.0	53.0	52.0					3																	14862435		1960	4128	6088	SO:0001819	synonymous_variant	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14862435C>T	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.1857C>T	3.37:g.14862435C>T						FGD5_uc011avk.2_Silent_p.F619F	p.F619F	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN			0	1967	+			619					B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Silent	SNP	ENST00000285046.5	37	c.1857C>T	CCDS46767.1																																																																																				0.557	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536	
GCSAM	257144	broad.mit.edu	37	3	111842437	111842437	+	Silent	SNP	A	A	G			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr3:111842437A>G	ENST00000308910.4	-	6	586	c.402T>C	c.(400-402)ccT>ccC	p.P134P	GCSAM_ENST00000484193.1_Silent_p.P136P|C3orf52_ENST00000467942.2_Intron	NM_001190259.1|NM_001190260.1|NM_152785.4	NP_001177188.1|NP_001177189.1|NP_689998.1	Q8N6F7	GCSAM_HUMAN	germinal center-associated, signaling and motility	134					negative regulation of lymphocyte migration (GO:2000402)|regulation of B cell receptor signaling pathway (GO:0050855)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|myosin II binding (GO:0045159)|protein kinase binding (GO:0019901)										GGTCTGTAGAAGGCATATGTA	0.483																																						uc021xcl.1																			0		p.S135S(1)		endometrium(3)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	8						c.(406-408)ccT>ccC		Homo sapiens germinal center expressed transcript 2 (GCET2), transcript variant 3, mRNA.							136.0	137.0	137.0					3																	111842437		2203	4300	6503	SO:0001819	synonymous_variant	257144					mitochondrion		g.chr3:111842437A>G	BC030506	CCDS2964.1, CCDS54621.1, CCDS54622.1	3q13.13	2012-09-03	2012-08-23	2012-08-23	ENSG00000174500	ENSG00000174500			20253	protein-coding gene	gene with protein product	"""human germinal center-associated lymphoma"""	607792	"""germinal center expressed transcript 2"""	GCET2			Standard	NM_152785		Approved	MGC40441, HGAL	uc021xcl.1	Q8N6F7	OTTHUMG00000159231	ENST00000308910.4:c.402T>C	3.37:g.111842437A>G						C3orf52_uc011bht.1_Intron|C3orf52_uc003dyr.1_Intron|GCET2_uc003dys.2_Silent_p.P134P|GCET2_uc021xcm.1_Silent_p.P119P	p.P136P	NM_001190259	NP_001177188	Q8N6F7	GCET2_HUMAN			5	593	-			134					C9JD17|C9JUG6	Silent	SNP	ENST00000308910.4	37	c.408T>C	CCDS2964.1																																																																																				0.483	GCSAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353967.2	NM_152785	
ABCF3	55324	broad.mit.edu	37	3	183907351	183907351	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr3:183907351C>A	ENST00000429586.2	+	13	1305	c.1120C>A	c.(1120-1122)Ccc>Acc	p.P374T	ABCF3_ENST00000292808.5_Missense_Mutation_p.P368T|EIF2B5_ENST00000444495.1_Intron	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	374	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)	membrane (GO:0016020)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCAGACGTGGCCCTCCACCAT	0.617																																						uc003fmz.2																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39						c.(1120-1122)Ccc>Acc		Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 3 (ABCF3), mRNA.							70.0	61.0	64.0					3																	183907351		2203	4300	6503	SO:0001583	missense	55324						ATP binding|ATPase activity	g.chr3:183907351C>A	U66685	CCDS3254.1	3q27.1	2012-05-16			ENSG00000161204	ENSG00000161204		"""ATP binding cassette transporters / subfamily F"""	72	protein-coding gene	gene with protein product						8894702	Standard	NM_018358		Approved	EST201864	uc003fmz.2	Q9NUQ8	OTTHUMG00000156824	ENST00000429586.2:c.1120C>A	3.37:g.183907351C>A	ENSP00000411471:p.Pro374Thr					ABCF3_uc003fna.2_Missense_Mutation_p.P368T|ABCF3_uc003fnb.2_Missense_Mutation_p.P55T	p.P374T	NM_018358	NP_060828	Q9NUQ8	ABCF3_HUMAN	Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		12	1253	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		374			ABC transporter 1.		A8K241|Q86UA2|Q8NAN1|Q96GS8|Q9H7A8	Missense_Mutation	SNP	ENST00000429586.2	37	c.1120C>A	CCDS3254.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.612595	0.46631	.	.	ENSG00000161204	ENST00000429586;ENST00000292808	D;D	0.92048	-2.96;-2.96	4.2	4.2	0.49525	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.135827	0.51477	D	0.000100	D	0.89928	0.6857	L	0.51914	1.62	0.58432	D	0.999995	B;B	0.25312	0.123;0.082	B;B	0.28232	0.087;0.064	D	0.88861	0.3326	10	0.56958	D	0.05	-13.0744	15.7155	0.77663	0.0:1.0:0.0:0.0	.	368;374	Q9NUQ8-2;Q9NUQ8	.;ABCF3_HUMAN	T	374;368	ENSP00000411471:P374T;ENSP00000292808:P368T	ENSP00000292808:P368T	P	+	1	0	ABCF3	185390045	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.331000	0.65905	2.186000	0.69663	0.563000	0.77884	CCC		0.617	ABCF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346047.1	NM_018358	
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C	rs369326402	byFrequency	TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597																																						uc021xjp.1																			10	Substitution - Missense(10)	p.H4205Q(10)	kidney(4)|prostate(3)|urinary_tract(2)|endometrium(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(12613-12615)caC>caG		Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.							15.0	14.0	14.0					3																	195505836		687	1573	2260	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195505836G>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12615C>G	3.37:g.195505836G>C	ENSP00000417498:p.His4205Gln					MUC4_uc003fva.3_5'Flank|MUC4_uc003fvb.3_5'Flank|MUC4_uc003fvc.3_5'Flank|MUC4_uc003fvd.3_5'Flank|MUC4_uc003fve.3_5'Flank|MUC4_uc010hzr.3_5'Flank|MUC4_uc021xjm.1_Intron|MUC4_uc021xjn.1_Intron|MUC4_uc021xjo.1_Intron|MUC4_uc021xjg.1_Intron|MUC4_uc021xjh.1_Intron|MUC4_uc021xji.1_Intron|MUC4_uc021xjj.1_Intron|MUC4_uc021xjk.1_Intron|MUC4_uc021xjl.1_Intron|MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	p.H4205Q	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	1	12771	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	968					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.12615C>G	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	0.099	-1.155501	0.01686	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.30448	1.55;1.53	.	.	.	.	.	.	.	.	T	0.17619	0.0423	N	0.19112	0.55	0.21950	N	0.999454	P	0.35208	0.49	B	0.40038	0.317	T	0.24368	-1.0162	6	.	.	.	.	.	.	.	.	4077	E7ESK3	.	Q	4205	ENSP00000417498:H4205Q;ENSP00000420243:H4205Q	.	H	-	3	2	MUC4	196990615	.	.	0.016000	0.15963	0.046000	0.14306	.	.	-0.849000	0.04158	0.074000	0.15403	CAC		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
EVC2	132884	broad.mit.edu	37	4	5630350	5630350	+	Missense_Mutation	SNP	G	G	A	rs371876802		TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr4:5630350G>A	ENST00000344408.5	-	12	1875	c.1822C>T	c.(1822-1824)Cgt>Tgt	p.R608C	EVC2_ENST00000344938.1_Missense_Mutation_p.R608C|EVC2_ENST00000310917.2_Missense_Mutation_p.R528C	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	608					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CCCTGCACACGGGTCTCTGAT	0.507																																						uc003gij.3																			0		p.R608H(2)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						c.(1822-1824)Cgt>Tgt		Homo sapiens Ellis van Creveld syndrome 2 (EVC2), transcript variant 1, mRNA.		G	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	115.0	106.0	109.0		1582,1822	4.0	1.0	4		109	0,8600		0,0,4300	no	missense,missense	EVC2	NM_001166136.1,NM_147127.4	180,180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	528/1229,608/1309	5630350	1,13005	2203	4300	6503	SO:0001583	missense	132884					integral to membrane		g.chr4:5630350G>A	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.1822C>T	4.37:g.5630350G>A	ENSP00000342144:p.Arg608Cys					EVC2_uc003gik.3_Missense_Mutation_p.R528C|EVC2_uc011bwb.2_Missense_Mutation_p.R48C	p.R608C	NM_147127	NP_667338	Q86UK5	LBN_HUMAN			11	1876	-			608					Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	c.1822C>T	CCDS3382.2	.	.	.	.	.	.	.	.	.	.	G	20.6	4.023859	0.75390	2.27E-4	0.0	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.78707	-1.2;-1.2;-1.2	4.89	4.03	0.46877	.	0.241588	0.35555	N	0.003133	D	0.85252	0.5654	M	0.65975	2.015	0.46356	D	0.999006	D	0.89917	1.0	D	0.71414	0.973	D	0.86591	0.1860	10	0.72032	D	0.01	-15.3919	13.1941	0.59728	0.0821:0.0:0.9179:0.0	.	608	Q86UK5	LBN_HUMAN	C	608;528;608	ENSP00000339954:R608C;ENSP00000311683:R528C;ENSP00000342144:R608C	ENSP00000311683:R528C	R	-	1	0	EVC2	5681251	0.981000	0.34729	0.996000	0.52242	0.980000	0.70556	2.654000	0.46699	2.426000	0.82243	0.484000	0.47621	CGT		0.507	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127	
SLC2A9	56606	broad.mit.edu	37	4	9889261	9889261	+	Silent	SNP	G	G	A	rs369754879		TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr4:9889261G>A	ENST00000264784.3	-	10	1274	c.1221C>T	c.(1219-1221)caC>caT	p.H407H	SLC2A9_ENST00000309065.3_Silent_p.H378H|SLC2A9_ENST00000506583.1_Silent_p.H378H	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	407					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	CCCAGGGGGCGTGGTCCTGGG	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		18107	0.0		0.0	False		,,,				2504	0.001					uc003gmc.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						c.(1219-1221)caC>caT		Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 9 (SLC2A9), transcript variant 1, mRNA.		G	,	0,4400		0,0,2200	81.0	79.0	80.0		1134,1221	-10.2	0.0	4		80	1,8587		0,1,4293	no	coding-synonymous,coding-synonymous	SLC2A9	NM_001001290.1,NM_020041.2	,	0,1,6493	AA,AG,GG		0.0116,0.0,0.0077	,	378/512,407/541	9889261	1,12987	2200	4294	6494	SO:0001819	synonymous_variant	56606				glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity	g.chr4:9889261G>A	AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"""Solute carriers"""	13446	protein-coding gene	gene with protein product	"""urate voltage-driven efflux transporter 1"""	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000264784.3:c.1221C>T	4.37:g.9889261G>A						SLC2A9_uc003gmd.3_Silent_p.H378H	p.H407H	NM_020041	NP_064425	Q9NRM0	GTR9_HUMAN			9	1282	-			407					Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Silent	SNP	ENST00000264784.3	37	c.1221C>T	CCDS3407.1																																																																																				0.632	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207055.1		
PCDH7	5099	broad.mit.edu	37	4	30724267	30724267	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr4:30724267A>G	ENST00000361762.2	+	1	2231	c.1223A>G	c.(1222-1224)gAg>gGg	p.E408G	PCDH7_ENST00000543491.1_Missense_Mutation_p.E408G	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	408	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						ATCAAAGACGAGAACGACAAC	0.642																																						uc003gsk.1																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						c.(1222-1224)gAg>gGg		Homo sapiens protocadherin 7 (PCDH7), transcript variant a, mRNA.							42.0	45.0	44.0					4																	30724267		2202	4300	6502	SO:0001583	missense	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30724267A>G	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.1223A>G	4.37:g.30724267A>G	ENSP00000355243:p.Glu408Gly					PCDH7_uc011bxx.2_Missense_Mutation_p.E408G|PCDH7_uc021xnd.1_Missense_Mutation_p.E408G|PCDH7_uc021xnc.1_Missense_Mutation_p.E408G	p.E408G	NM_002589	NP_002580	O60245	PCDH7_HUMAN			0	2231	+			408			Cadherin 3.		O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	c.1223A>G	CCDS33971.1	.	.	.	.	.	.	.	.	.	.	A	15.92	2.974225	0.53720	.	.	ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135	T;T	0.61040	0.14;0.14	5.24	5.24	0.73138	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.75925	0.3916	M	0.84585	2.705	0.51233	D	0.99991	P;P;P	0.51537	0.946;0.946;0.91	P;P;P	0.59546	0.859;0.859;0.727	T	0.80901	-0.1175	9	0.87932	D	0	.	15.1391	0.72595	1.0:0.0:0.0:0.0	.	408;361;408	F5GWJ1;O60245-3;O60245	.;.;PCDH7_HUMAN	G	408;408;361	ENSP00000355243:E408G;ENSP00000441802:E408G	ENSP00000330302:E361G	E	+	2	0	PCDH7	30333365	1.000000	0.71417	1.000000	0.80357	0.491000	0.33493	6.119000	0.71590	1.985000	0.57927	0.533000	0.62120	GAG		0.642	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589	
CXCL6	6372	broad.mit.edu	37	4	74702791	74702791	+	Missense_Mutation	SNP	C	C	A	rs149811429		TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr4:74702791C>A	ENST00000226317.5	+	2	474	c.220C>A	c.(220-222)Cag>Aag	p.Q74K	CXCL6_ENST00000515050.1_Missense_Mutation_p.Q74K	NM_002993.3	NP_002984.1	P80162	CXCL6_HUMAN	chemokine (C-X-C motif) ligand 6	74					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|heparin binding (GO:0008201)			large_intestine(1)|lung(7)	8	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			CGCAGGCCCGCAGTGCTCCAA	0.542																																						uc003hhf.3																			0		p.P73P(1)		large_intestine(1)|lung(7)	8						c.(220-222)Cag>Aag		Homo sapiens chemokine (C-X-C motif) ligand 6 (granulocyte chemotactic protein 2) (CXCL6), mRNA.		C	LYS/GLN	0,4406		0,0,2203	100.0	132.0	121.0		220	3.9	0.6	4	dbSNP_134	121	1,8599	1.2+/-3.3	0,1,4299	no	missense	CXCL6	NM_002993.3	53	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	possibly-damaging	74/115	74702791	1,13005	2203	4300	6503	SO:0001583	missense	6372				cell-cell signaling|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding	g.chr4:74702791C>A	U83303	CCDS3560.1	4q13.3	2013-02-25	2012-10-17	2002-08-23	ENSG00000124875	ENSG00000124875		"""Endogenous ligands"""	10643	protein-coding gene	gene with protein product	"""granulocyte chemotactic protein 2"""	138965	"""small inducible cytokine subfamily B (Cys-X-Cys), member 6 (granulocyte chemotactic protein 2)"", ""chemokine (C-X-C motif) ligand 6 (granulocyte chemotactic protein 2)"""	SCYB6		9465307	Standard	NM_002993		Approved	GCP-2, CKA-3	uc003hhf.3	P80162	OTTHUMG00000130010	ENST00000226317.5:c.220C>A	4.37:g.74702791C>A	ENSP00000226317:p.Gln74Lys						p.Q74K	NM_002993	NP_002984	P80162	CXCL6_HUMAN	all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)		1	415	+	Breast(15;0.00102)		74					B2R4X3|Q4W5D4	Missense_Mutation	SNP	ENST00000226317.5	37	c.220C>A	CCDS3560.1	.	.	.	.	.	.	.	.	.	.	C	10.30	1.311649	0.23821	0.0	1.16E-4	ENSG00000124875	ENST00000226317;ENST00000515050	T;T	0.04654	3.58;3.58	3.86	3.86	0.44501	CXC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.369424	0.30235	N	0.010085	T	0.09024	0.0223	M	0.85859	2.78	0.23468	N	0.99762	P	0.34934	0.476	B	0.29267	0.1	T	0.13845	-1.0494	10	0.66056	D	0.02	.	11.494	0.50398	0.0:1.0:0.0:0.0	.	74	P80162	CXCL6_HUMAN	K	74	ENSP00000226317:Q74K;ENSP00000424819:Q74K	ENSP00000226317:Q74K	Q	+	1	0	CXCL6	74921655	0.810000	0.29049	0.597000	0.28824	0.130000	0.20726	1.205000	0.32308	2.148000	0.66965	0.585000	0.79938	CAG		0.542	CXCL6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252283.2	NM_002993	
NPNT	255743	broad.mit.edu	37	4	106863540	106863540	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr4:106863540C>A	ENST00000379987.2	+	8	1056	c.840C>A	c.(838-840)gaC>gaA	p.D280E	NPNT_ENST00000514622.1_Missense_Mutation_p.D280E|NPNT_ENST00000427316.2_Missense_Mutation_p.D310E|NPNT_ENST00000506666.1_Missense_Mutation_p.D310E|NPNT_ENST00000305572.8_Missense_Mutation_p.D280E|NPNT_ENST00000453617.2_Missense_Mutation_p.D297E	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	280					branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to tumor necrosis factor (GO:0071356)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|pilomotor reflex (GO:0097195)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|ureteric bud development (GO:0001657)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integrin alpha8-beta1 complex (GO:0034678)|proteinaceous extracellular matrix (GO:0005578)|smooth muscle contractile fiber (GO:0030485)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		TAAAGGGTGACACAGGAAATA	0.393																																						uc011cfd.2																			0				kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21						c.(928-930)gaC>gaA		Homo sapiens nephronectin (NPNT), transcript variant 3, mRNA.							94.0	87.0	89.0					4																	106863540		2203	4300	6503	SO:0001583	missense	255743				cell differentiation	membrane	calcium ion binding	g.chr4:106863540C>A		CCDS34046.1, CCDS54784.1, CCDS54785.1, CCDS54786.1, CCDS54787.1	4q25	2005-10-07							27405	protein-coding gene	gene with protein product		610306				15754038	Standard	NM_001033047		Approved	EGFL6L, POEM	uc011cfd.2	Q6UXI9		ENST00000379987.2:c.840C>A	4.37:g.106863540C>A	ENSP00000369323:p.Asp280Glu					NPNT_uc011cfc.2_Missense_Mutation_p.D297E|NPNT_uc011cfe.2_Missense_Mutation_p.D310E|NPNT_uc003hya.3_Missense_Mutation_p.D280E|NPNT_uc011cff.2_Missense_Mutation_p.D280E	p.D310E	NM_001184691	NP_001171620	Q6UXI9	NPNT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)	8	1143	+		Hepatocellular(203;0.217)	280			Pro-rich.		A6NFT9|A8K1W4|B4DIT4|B4DYK3|B4E2H7|B4E3H2|D6RCA1|E9PCK8|E9PCQ1|E9PE64|E9PF04	Missense_Mutation	SNP	ENST00000379987.2	37	c.930C>A	CCDS34046.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.33|13.33	2.204714|2.204714	0.38905|0.38905	.|.	.|.	ENSG00000168743|ENSG00000168743	ENST00000379987;ENST00000453617;ENST00000427316;ENST00000514622;ENST00000305572;ENST00000506666;ENST00000503451|ENST00000514837	T;T;T;T;T;T;T|.	0.77877|.	-0.73;-1.08;-0.82;-1.13;-0.82;-0.8;0.03|.	4.85|4.85	-1.06|-1.06	0.10002|0.10002	.|.	0.456851|.	0.24843|.	N|.	0.035152|.	T|T	0.17874|0.17874	0.0429|0.0429	N|N	0.08118|0.08118	0|0	0.23156|0.23156	N|N	0.998207|0.998207	P;P;P;P;B;P;P|.	0.36837|.	0.495;0.547;0.547;0.547;0.349;0.571;0.536|.	B;B;B;B;B;B;B|.	0.30855|.	0.053;0.114;0.08;0.08;0.08;0.121;0.08|.	T|T	0.30937|0.30937	-0.9961|-0.9961	10|5	0.20046|.	T|.	0.44|.	.|.	10.1974|10.1974	0.43062|0.43062	0.0:0.3869:0.0:0.6131|0.0:0.3869:0.0:0.6131	.|.	280;310;310;297;327;280;280|.	E9PF04;E9PE64;E9PCQ1;E9PCK8;D6RH31;Q6UXI9-2;Q6UXI9|.	.;.;.;.;.;.;NPNT_HUMAN|.	E|N	280;297;310;280;280;310;327|257	ENSP00000369323:D280E;ENSP00000402884:D297E;ENSP00000389252:D310E;ENSP00000422044:D280E;ENSP00000302557:D280E;ENSP00000422474:D310E;ENSP00000426146:D327E|.	ENSP00000302557:D280E|.	D|H	+|+	3|1	2|0	NPNT|NPNT	107082989|107082989	0.733000|0.733000	0.28132|0.28132	0.995000|0.995000	0.50966|0.50966	0.284000|0.284000	0.27059|0.27059	0.012000|0.012000	0.13287|0.13287	-0.246000|-0.246000	0.09611|0.09611	-1.036000|-1.036000	0.02392|0.02392	GAC|CAC		0.393	NPNT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364083.1	NM_198278	
TLL1	7092	broad.mit.edu	37	4	166960565	166960565	+	Silent	SNP	C	C	T			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr4:166960565C>T	ENST00000061240.2	+	10	1880	c.1233C>T	c.(1231-1233)gaC>gaT	p.D411D	TLL1_ENST00000507499.1_Silent_p.D411D	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	411	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AAGTAAGAGACGGGTACTGGA	0.388																																						uc003irh.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(1231-1233)gaC>gaT		Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.							138.0	130.0	132.0					4																	166960565		2203	4300	6503	SO:0001819	synonymous_variant	7092				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr4:166960565C>T	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.1233C>T	4.37:g.166960565C>T						TLL1_uc011cjn.2_Silent_p.D411D|TLL1_uc011cjo.2_Silent_p.D235D	p.D411D	NM_012464	NP_036596	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	9	1880	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	411			CUB 1.		B2RMU2|Q96AN3|Q9NQS4	Silent	SNP	ENST00000061240.2	37	c.1233C>T	CCDS3811.1																																																																																				0.388	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1		
TENM3	55714	broad.mit.edu	37	4	183594220	183594220	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr4:183594220C>T	ENST00000511685.1	+	7	1297	c.1174C>T	c.(1174-1176)Cga>Tga	p.R392*	TENM3_ENST00000406950.2_Nonsense_Mutation_p.R392*			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	392					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TGATATTGGCCGAAGAGCAAT	0.388																																						uc003ivd.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129						c.(1174-1176)Cga>Tga		Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.							41.0	39.0	39.0					4																	183594220		1808	4079	5887	SO:0001587	stop_gained	55714				signal transduction	integral to membrane		g.chr4:183594220C>T	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.1174C>T	4.37:g.183594220C>T	ENSP00000424226:p.Arg392*						p.R392*	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	5	1249	+		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)	392					Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Nonsense_Mutation	SNP	ENST00000511685.1	37	c.1174C>T	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	C	39	7.743866	0.98465	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.0138	0.92886	0.0:1.0:0.0:0.0	.	.	.	.	X	392	.	ENSP00000385276:R392X	R	+	1	2	ODZ3	183831214	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.583000	0.60964	2.789000	0.95967	0.650000	0.86243	CGA		0.388	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1		
TENM3	55714	broad.mit.edu	37	4	183594343	183594343	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr4:183594343C>T	ENST00000511685.1	+	7	1420	c.1297C>T	c.(1297-1299)Cgg>Tgg	p.R433W	TENM3_ENST00000406950.2_Missense_Mutation_p.R433W			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	433					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										AGTATATGGCCGGAAAGGCTT	0.388																																						uc003ivd.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129						c.(1297-1299)Cgg>Tgg		Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.							63.0	59.0	60.0					4																	183594343		1817	4081	5898	SO:0001583	missense	55714				signal transduction	integral to membrane		g.chr4:183594343C>T	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.1297C>T	4.37:g.183594343C>T	ENSP00000424226:p.Arg433Trp						p.R433W	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	5	1372	+		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)	433					Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.1297C>T	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.323099	0.60634	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	T;T	0.35605	1.3;1.3	4.9	4.05	0.47172	.	.	.	.	.	T	0.58652	0.2137	M	0.82517	2.595	0.54753	D	0.999984	D	0.89917	1.0	D	0.75020	0.985	T	0.62987	-0.6737	9	0.87932	D	0	.	8.7897	0.34843	0.1484:0.7758:0.0:0.0758	.	433	Q9P273	TEN3_HUMAN	W	433	ENSP00000424226:R433W;ENSP00000385276:R433W	ENSP00000385276:R433W	R	+	1	2	ODZ3	183831337	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	2.863000	0.48396	1.413000	0.46997	0.655000	0.94253	CGG		0.388	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1		
FAT1	2195	broad.mit.edu	37	4	187557880	187557880	+	Silent	SNP	G	G	A	rs553222395		TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr4:187557880G>A	ENST00000441802.2	-	5	4040	c.3831C>T	c.(3829-3831)acC>acT	p.T1277T		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1277	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CATCCTTGTCGGTGGCTATGA	0.493										HNSCC(5;0.00058)			G|||	0	0.0	0.0	0.0	5008	,	,		16094	0.0		0.0	False		,,,				2504	0.0				Colon(197;1040 2055 4143 4984 49344)	uc003izf.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(3829-3831)acC>acT		Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.							214.0	216.0	215.0					4																	187557880		1887	4115	6002	SO:0001819	synonymous_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187557880G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.3831C>T	4.37:g.187557880G>A		HNSCC(5;0.00058)					p.T1277T	NM_005245	NP_005236	Q14517	FAT1_HUMAN			4	4019	-			1277			Cadherin 11.			Silent	SNP	ENST00000441802.2	37	c.3831C>T	CCDS47177.1																																																																																				0.493	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245	
TTC37	9652	broad.mit.edu	37	5	94856458	94856458	+	Silent	SNP	G	G	A	rs200525903		TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr5:94856458G>A	ENST00000358746.2	-	20	2374	c.2076C>T	c.(2074-2076)gcC>gcT	p.A692A	RNU6-308P_ENST00000390957.1_RNA	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	692						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TGTAGTCTACGGCTTTTCCAT	0.299																																						uc003klb.3																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						c.(2074-2076)gcC>gcT		Homo sapiens tetratricopeptide repeat domain 37 (TTC37), mRNA.		G		0,4406		0,0,2203	71.0	74.0	73.0		2076	2.7	1.0	5		73	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous	TTC37	NM_014639.3		0,1,6499	AA,AG,GG		0.0116,0.0,0.0077		692/1565	94856458	1,12999	2203	4297	6500	SO:0001819	synonymous_variant	9652						binding	g.chr5:94856458G>A	AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"""Tetratricopeptide (TTC) repeat domain containing"""	23639	protein-coding gene	gene with protein product		614589	"""KIAA0372"""	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.2076C>T	5.37:g.94856458G>A							p.A692A	NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN			19	2373	-			692					O15077|Q6PJI3	Silent	SNP	ENST00000358746.2	37	c.2076C>T	CCDS4072.1																																																																																				0.299	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639	
DMXL1	1657	broad.mit.edu	37	5	118503534	118503534	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr5:118503534A>G	ENST00000311085.8	+	23	5453	c.5373A>G	c.(5371-5373)atA>atG	p.I1791M	DMXL1_ENST00000539542.1_Missense_Mutation_p.I1791M	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1791										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		AAACATTAATAAAGCAACCTA	0.343																																						uc010jcl.1																			0				breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86						c.(5371-5373)atA>atG		Homo sapiens Dmx-like 1 (DMXL1), mRNA.							55.0	57.0	57.0					5																	118503534		2202	4300	6502	SO:0001583	missense	1657							g.chr5:118503534A>G	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.5373A>G	5.37:g.118503534A>G	ENSP00000309690:p.Ile1791Met					DMXL1_uc003ksd.2_Missense_Mutation_p.I1791M|DMXL1_uc021ycw.1_Missense_Mutation_p.I1618M	p.I1791M	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	22	5554	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	1791						Missense_Mutation	SNP	ENST00000311085.8	37	c.5373A>G	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	A	14.69	2.611090	0.46631	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.51817	0.69;0.69	5.89	4.72	0.59763	.	0.224236	0.48286	D	0.000199	T	0.59636	0.2208	M	0.73217	2.22	0.41541	D	0.98851	D;D	0.61080	0.989;0.984	D;D	0.65233	0.918;0.933	T	0.62895	-0.6757	10	0.87932	D	0	-23.9363	3.6621	0.08242	0.6594:0.1301:0.0704:0.1401	.	1791;1791	F5H269;Q9Y485	.;DMXL1_HUMAN	M	1791	ENSP00000309690:I1791M;ENSP00000439479:I1791M	ENSP00000309690:I1791M	I	+	3	3	DMXL1	118531433	0.999000	0.42202	1.000000	0.80357	0.548000	0.35241	0.530000	0.23036	1.042000	0.40150	-0.399000	0.06403	ATA		0.343	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509	
ABLIM3	22885	broad.mit.edu	37	5	148620291	148620291	+	Silent	SNP	C	C	G			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr5:148620291C>G	ENST00000506113.1	+	13	1739	c.1257C>G	c.(1255-1257)tcC>tcG	p.S419S	ABLIM3_ENST00000504238.1_Intron|ABLIM3_ENST00000309868.7_Silent_p.S419S|ABLIM3_ENST00000356541.3_Intron|ABLIM3_ENST00000326685.7_Intron|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000508983.1_Intron|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000517451.1_5'Flank|RP11-331K21.1_ENST00000522685.1_RNA			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	419					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGTGAGGTCCTCCACTCCAA	0.572																																						uc003lpy.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1255-1257)tcC>tcG		Homo sapiens actin binding LIM protein family, member 3 (ABLIM3), mRNA.							127.0	117.0	121.0					5																	148620291		2203	4300	6503	SO:0001819	synonymous_variant	22885				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding	g.chr5:148620291C>G	AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.1257C>G	5.37:g.148620291C>G						ABLIM3_uc003lpz.1_Silent_p.S419S|ABLIM3_uc003lqa.1_Intron|ABLIM3_uc003lqb.3_Intron|ABLIM3_uc003lqc.1_Intron|ABLIM3_uc003lqd.1_Intron|ABLIM3_uc003lqe.1_Intron|ABLIM3_uc003lqf.3_Intron	p.S419S	NM_014945	NP_055760	O94929	ABLM3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		13	1508	+			419					A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Silent	SNP	ENST00000506113.1	37	c.1257C>G	CCDS4294.1																																																																																				0.572	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	NM_014945	
SLIT3	6586	broad.mit.edu	37	5	168112727	168112727	+	Missense_Mutation	SNP	C	C	T	rs200822063		TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr5:168112727C>T	ENST00000519560.1	-	31	3939	c.3520G>A	c.(3520-3522)Gcc>Acc	p.A1174T	SLIT3_ENST00000404867.3_Missense_Mutation_p.A1174T|SLIT3_ENST00000332966.8_Missense_Mutation_p.A1181T	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1174	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.A1174T(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGGACCTTGGCGGAGGCCAGT	0.627													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18331	0.0		0.0	False		,,,				2504	0.0				Ovarian(29;311 847 10864 17279 24903)	uc010jjg.3																			1	Substitution - Missense(1)	p.A1174T(1)	ovary(1)	endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(3541-3543)Gcc>Acc		Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.							73.0	78.0	76.0					5																	168112727		2203	4300	6503	SO:0001583	missense	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168112727C>T	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.3520G>A	5.37:g.168112727C>T	ENSP00000430333:p.Ala1174Thr					SLIT3_uc003mab.3_Missense_Mutation_p.A1174T	p.A1181T	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		30	3961	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1174			Laminin G-like.		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	c.3541G>A	CCDS4369.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	8.487	0.861180	0.17178	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.68765	-0.35;-0.35;-0.35	4.76	3.87	0.44632	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.200754	0.53938	D	0.000050	T	0.45074	0.1324	N	0.19112	0.55	0.41357	D	0.987401	B	0.15473	0.013	B	0.14023	0.01	T	0.33214	-0.9877	10	0.14656	T	0.56	.	7.8458	0.29424	0.1612:0.7564:0.0:0.0823	.	1174	O75094	SLIT3_HUMAN	T	1174;1181;1174	ENSP00000430333:A1174T;ENSP00000332164:A1181T;ENSP00000384890:A1174T	ENSP00000332164:A1181T	A	-	1	0	SLIT3	168045305	1.000000	0.71417	0.984000	0.44739	0.925000	0.55904	3.095000	0.50235	2.349000	0.79799	0.561000	0.74099	GCC		0.627	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062	
STK10	6793	broad.mit.edu	37	5	171479966	171479966	+	Silent	SNP	C	C	T			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr5:171479966C>T	ENST00000176763.5	-	18	3076	c.2733G>A	c.(2731-2733)aaG>aaA	p.K911K		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	911					cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCCGCCATTCCTTCAGGTTCT	0.567																																						uc003mbo.1																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47						c.(2731-2733)aaG>aaA		Homo sapiens serine/threonine kinase 10 (STK10), mRNA.							106.0	93.0	98.0					5																	171479966		2203	4300	6503	SO:0001819	synonymous_variant	6793						ATP binding|protein serine/threonine kinase activity	g.chr5:171479966C>T	AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.2733G>A	5.37:g.171479966C>T							p.K911K	NM_005990	NP_005981	O94804	STK10_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		17	3033	-	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	911					A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Silent	SNP	ENST00000176763.5	37	c.2733G>A	CCDS34290.1	.	.	.	.	.	.	.	.	.	.	C	9.943	1.218085	0.22373	.	.	ENSG00000072786	ENST00000520476	.	.	.	4.64	3.77	0.43336	.	.	.	.	.	T	0.56337	0.1978	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52260	-0.8599	4	.	.	.	.	7.3546	0.26711	0.0:0.801:0.0:0.199	.	.	.	.	K	184	.	.	R	-	2	0	STK10	171412571	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.659000	0.46741	1.097000	0.41459	0.555000	0.69702	AGG		0.567	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990	
LMAN2	10960	broad.mit.edu	37	5	176765541	176765541	+	Silent	SNP	G	G	A	rs372993074		TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr5:176765541G>A	ENST00000303127.7	-	3	585	c.381C>T	c.(379-381)aaC>aaT	p.N127N	LMAN2_ENST00000515209.1_Silent_p.N127N|LMAN2_ENST00000506310.1_5'UTR|RN7SL562P_ENST00000582768.1_RNA	NM_006816.2	NP_006807.1	Q12907	LMAN2_HUMAN	lectin, mannose-binding 2	127	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.				positive regulation of phagocytosis (GO:0050766)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)|heat shock protein binding (GO:0031072)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCCATGGAGGTTCTTCTTCC	0.632																																						uc003mge.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16						c.(379-381)aaC>aaT		Homo sapiens lectin, mannose-binding 2 (LMAN2), mRNA.		G		2,4404	4.2+/-10.8	0,2,2201	290.0	228.0	249.0		381	-4.1	1.0	5		249	0,8600		0,0,4300	no	coding-synonymous	LMAN2	NM_006816.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		127/357	176765541	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	10960				protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	metal ion binding|sugar binding	g.chr5:176765541G>A	U10362	CCDS4417.1	5q35	2008-02-05		2003-07-04	ENSG00000169223	ENSG00000169223			16986	protein-coding gene	gene with protein product		609551	"""chromosome 5 open reading frame 8"""	C5orf8		12609988	Standard	NM_006816		Approved	GP36B, VIP36	uc003mge.3	Q12907	OTTHUMG00000130860	ENST00000303127.7:c.381C>T	5.37:g.176765541G>A							p.N127N	NM_006816	NP_006807	Q12907	LMAN2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	618	-	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	127			L-type lectin-like.		Q53HH1	Silent	SNP	ENST00000303127.7	37	c.381C>T	CCDS4417.1																																																																																				0.632	LMAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253434.1	NM_006816	
CANX	821	broad.mit.edu	37	5	179132740	179132740	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr5:179132740G>A	ENST00000247461.4	+	2	258	c.58G>A	c.(58-60)Gct>Act	p.A20T	CANX_ENST00000452673.2_Missense_Mutation_p.A20T|CANX_ENST00000512607.2_5'UTR|CANX_ENST00000415618.2_Missense_Mutation_p.A55T|CANX_ENST00000504734.1_Missense_Mutation_p.A20T	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	20					aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein folding (GO:0061077)|clathrin-mediated endocytosis (GO:0072583)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein secretion (GO:0009306)|synaptic vesicle endocytosis (GO:0048488)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ribosome (GO:0005840)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Antihemophilic Factor(DB00025)|Tenecteplase(DB00031)	tattgttgaggctcatgatgg	0.423																																						uc011dgp.2																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22						c.(163-165)Gct>Act		Homo sapiens calnexin (CANX), transcript variant 1, mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)						561.0	450.0	488.0					5																	179132740		2203	4300	6503	SO:0001583	missense	821				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding	g.chr5:179132740G>A	L18887	CCDS4447.1	5q35	2008-07-18			ENSG00000127022	ENSG00000127022			1473	protein-coding gene	gene with protein product	"""major histocompatibility complex class I antigen-binding protein p88"""	114217				1326756, 8136357	Standard	NM_001746		Approved	CNX, IP90, P90	uc003mkl.3	P27824	OTTHUMG00000130910	ENST00000247461.4:c.58G>A	5.37:g.179132740G>A	ENSP00000247461:p.Ala20Thr					CANX_uc010jlb.1_Missense_Mutation_p.A20T|CANX_uc003mkk.3_Missense_Mutation_p.A20T|CANX_uc003mkl.3_Missense_Mutation_p.A20T|CANX_uc011dgq.2_5'UTR	p.A55T	NM_001746	NP_001737	P27824	CALX_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	238	+	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	20					B2R5V8|B4DGP8|B4E2T8|D3DWQ3|D6R9K3	Missense_Mutation	SNP	ENST00000247461.4	37	c.163G>A	CCDS4447.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943056	0.73672	.	.	ENSG00000127022	ENST00000514383;ENST00000502296;ENST00000504734;ENST00000415618;ENST00000452673;ENST00000247461;ENST00000502498;ENST00000507307;ENST00000502673;ENST00000513246;ENST00000354394;ENST00000509563;ENST00000376953	T;T;T;T;D;T	0.83591	0.69;0.66;0.69;0.69;-1.74;0.01	4.57	4.57	0.56435	.	0.225320	0.44483	D	0.000451	T	0.72534	0.3472	L	0.31926	0.97	0.80722	D	1	B;B;B	0.14438	0.001;0.01;0.01	B;B;B	0.12156	0.001;0.004;0.007	T	0.65463	-0.6162	10	0.12103	T	0.63	-16.3725	13.0276	0.58825	0.0:0.0:1.0:0.0	.	55;20;20	B4DGP8;Q6ZP56;P27824	.;.;CALX_HUMAN	T	20;20;20;55;20;20;20;20;20;20;12;20;20	ENSP00000424063:A20T;ENSP00000394817:A55T;ENSP00000391646:A20T;ENSP00000247461:A20T;ENSP00000425246:A20T;ENSP00000421107:A20T	ENSP00000247461:A20T	A	+	1	0	CANX	179065346	0.999000	0.42202	0.938000	0.37757	0.825000	0.46686	4.180000	0.58296	2.516000	0.84829	0.561000	0.74099	GCT		0.423	CANX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253500.2	NM_001024649	
ABCF1	23	broad.mit.edu	37	6	30552069	30552069	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr6:30552069delG	ENST00000326195.8	+	13	1315	c.1203delG	c.(1201-1203)ctgfs	p.L401fs	ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Frame_Shift_Del_p.L363fs|MIR877_ENST00000401282.1_RNA	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	401	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						AGGGACAGCTGGAACAAGGGG	0.592																																						uc003nql.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						c.(1201-1203)ctgfs		Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 1 (ABCF1), transcript variant 1, mRNA.							83.0	72.0	76.0					6																	30552069		1510	2708	4218	SO:0001589	frameshift_variant	23				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding	g.chr6:30552069delG	AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"""ATP binding cassette transporters / subfamily F"""	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.1203delG	6.37:g.30552069delG	ENSP00000313603:p.Leu401fs					ABCF1_uc003nqk.2_Frame_Shift_Del_p.L402fs|ABCF1_uc003nqm.3_Frame_Shift_Del_p.L363fs|MIR877_uc021yud.1_5'Flank	p.L401fs	NM_001025091	NP_001020262	Q8NE71	ABCF1_HUMAN			12	1298	+			401			ABC transporter 1.		A2BF75|O14897|Q69YP6	Frame_Shift_Del	DEL	ENST00000326195.8	37	c.1203delG	CCDS34380.1																																																																																				0.592	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076137.3		
LRFN2	57497	broad.mit.edu	37	6	40359856	40359856	+	Silent	SNP	C	C	T			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr6:40359856C>T	ENST00000338305.6	-	3	2738	c.2196G>A	c.(2194-2196)gcG>gcA	p.A732A		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	732						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CTCCCGCCGCCGCAGCAGCAA	0.682																																						uc003oph.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(2194-2196)gcG>gcA		Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.																																				SO:0001819	synonymous_variant	57497					cell junction|integral to membrane|postsynaptic membrane		g.chr6:40359856C>T	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.2196G>A	6.37:g.40359856C>T							p.A732A	NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN			2	2661	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		732					A5PKU3|Q5SYP9	Silent	SNP	ENST00000338305.6	37	c.2196G>A	CCDS34443.1																																																																																				0.682	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372	
UNC5CL	222643	broad.mit.edu	37	6	40996138	40996138	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr6:40996138C>T	ENST00000373164.1	-	8	1591	c.1531G>A	c.(1531-1533)Ggc>Agc	p.G511S	UNC5CL_ENST00000470102.1_5'UTR|UNC5CL_ENST00000244565.3_Missense_Mutation_p.G511S			Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	511					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|proteolysis (GO:0006508)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	peptidase activity (GO:0008233)			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGCTCCAGGCCCTGGTTATCC	0.687											OREG0017423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003opi.3																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13						c.(1531-1533)Ggc>Agc		Homo sapiens unc-5 homolog C (C. elegans)-like (UNC5CL), mRNA.							10.0	12.0	11.0					6																	40996138		2189	4275	6464	SO:0001583	missense	222643				signal transduction	cytoplasm|integral to membrane		g.chr6:40996138C>T	BC035284	CCDS4847.1	6p21.1	2013-10-15			ENSG00000124602	ENSG00000124602			21203	protein-coding gene	gene with protein product	"""ZU5 and death domain containing"""					14769797	Standard	NM_173561		Approved	MGC34763, ZUD	uc003opi.3	Q8IV45	OTTHUMG00000014665	ENST00000373164.1:c.1531G>A	6.37:g.40996138C>T	ENSP00000362258:p.Gly511Ser		OREG0017423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	897		p.G511S	NM_173561	NP_775832	Q8IV45	UN5CL_HUMAN			8	1630	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		511					Q5TGU1	Missense_Mutation	SNP	ENST00000373164.1	37	c.1531G>A	CCDS4847.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.455788	0.43634	.	.	ENSG00000124602	ENST00000244565;ENST00000373164	T;T	0.13538	2.58;2.58	4.53	3.63	0.41609	.	0.161489	0.29293	N	0.012574	T	0.04003	0.0112	L	0.32530	0.975	0.23563	N	0.997404	B	0.06786	0.001	B	0.04013	0.001	T	0.33059	-0.9883	10	0.62326	D	0.03	-3.5614	10.3376	0.43858	0.0:0.7994:0.2006:0.0	.	511	Q8IV45	UN5CL_HUMAN	S	511	ENSP00000244565:G511S;ENSP00000362258:G511S	ENSP00000244565:G511S	G	-	1	0	UNC5CL	41104116	0.001000	0.12720	0.570000	0.28473	0.688000	0.40055	1.059000	0.30517	0.858000	0.35431	0.563000	0.77884	GGC		0.687	UNC5CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040491.1	NM_173561	
SMPD2	6610	broad.mit.edu	37	6	109764877	109764877	+	Silent	SNP	A	A	G	rs142982624|rs370460899	byFrequency	TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr6:109764877A>G	ENST00000258052.3	+	10	1400	c.1041A>G	c.(1039-1041)ggA>ggG	p.G347G	PPIL6_ENST00000521072.2_5'Flank|PPIL6_ENST00000424445.2_5'Flank|PPIL6_ENST00000440797.2_5'Flank	NM_003080.2	NP_003071.2	O60906	NSMA_HUMAN	sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)	347					apoptotic signaling pathway (GO:0097190)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|neurotrophin TRK receptor signaling pathway (GO:0048011)|response to mechanical stimulus (GO:0009612)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin metabolic process (GO:0006684)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		TGGCGGCTGGAGGAGGGGCCG	0.632																																						uc003pti.3																			0				endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8						c.(1039-1041)ggA>ggG		Homo sapiens sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase) (SMPD2), mRNA.							41.0	52.0	48.0					6																	109764877		2202	4300	6502	SO:0001819	synonymous_variant	6610				induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process	integral to plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity	g.chr6:109764877A>G	AJ222801	CCDS5075.1	6q21	2009-10-23			ENSG00000135587	ENSG00000135587	3.1.4.12		11121	protein-coding gene	gene with protein product		603498				9520418	Standard	XM_005267109		Approved	nSMase, ISC1	uc003pti.3	O60906	OTTHUMG00000015348	ENST00000258052.3:c.1041A>G	6.37:g.109764877A>G						PPIL6_uc010kdp.3_5'Flank|PPIL6_uc003ptg.4_5'Flank|PPIL6_uc021zdq.1_5'Flank|PPIL6_uc003pth.1_5'Flank	p.G347G	NM_003080	NP_003071	O60906	NSMA_HUMAN		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)	9	1435	+		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)	347					Q5TED1|Q9BWR3	Silent	SNP	ENST00000258052.3	37	c.1041A>G	CCDS5075.1																																																																																				0.632	SMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041755.1		
UTRN	7402	broad.mit.edu	37	6	144809879	144809879	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr6:144809879T>A	ENST00000367545.3	+	29	4043	c.4043T>A	c.(4042-4044)gTc>gAc	p.V1348D		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1348	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ATGCTTCAAGTCTTGCAAGAG	0.483																																						uc003qkt.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(4042-4044)gTc>gAc		Homo sapiens utrophin (UTRN), mRNA.							80.0	78.0	78.0					6																	144809879		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144809879T>A	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.4043T>A	6.37:g.144809879T>A	ENSP00000356515:p.Val1348Asp						p.V1348D	NM_007124	NP_009055	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	28	4135	+		Ovarian(120;0.218)	1348			Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.4043T>A	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	T	18.96	3.733064	0.69189	.	.	ENSG00000152818	ENST00000367545	T	0.35048	1.33	5.43	5.43	0.79202	.	0.000000	0.45867	D	0.000337	T	0.38719	0.1051	L	0.51422	1.61	0.80722	D	1	D	0.69078	0.997	D	0.63033	0.91	T	0.10154	-1.0642	10	0.19590	T	0.45	.	15.7693	0.78152	0.0:0.0:0.0:1.0	.	1348	P46939	UTRO_HUMAN	D	1348	ENSP00000356515:V1348D	ENSP00000356515:V1348D	V	+	2	0	UTRN	144851572	0.933000	0.31639	0.914000	0.36105	0.920000	0.55202	1.650000	0.37292	2.180000	0.69256	0.533000	0.62120	GTC		0.483	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1		
SLC29A4	222962	broad.mit.edu	37	7	5330480	5330480	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr7:5330480A>G	ENST00000396872.3	+	3	448	c.287A>G	c.(286-288)cAt>cGt	p.H96R	SLC29A4_ENST00000297195.4_Missense_Mutation_p.H96R|SLC29A4_ENST00000406453.3_Missense_Mutation_p.H96R			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	96					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	Metformin(DB00331)	GACTACCTGCATCACAAGTAC	0.627																																						uc003sod.3																			0				breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20						c.(286-288)cAt>cGt		Homo sapiens solute carrier family 29 (nucleoside transporters), member 4 (SLC29A4), transcript variant 2, mRNA.							88.0	74.0	79.0					7																	5330480		2203	4300	6503	SO:0001583	missense	222962				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity	g.chr7:5330480A>G	AK075422	CCDS5340.1, CCDS75561.1	7p22.2	2013-07-17	2013-07-17		ENSG00000164638	ENSG00000164638		"""Solute carriers"""	23097	protein-coding gene	gene with protein product		609149	"""solute carrier family 29 (nucleoside transporters), member 4"""			12838422	Standard	NM_153247		Approved	FLJ34923, ENT4	uc003soc.3	Q7RTT9	OTTHUMG00000023797	ENST00000396872.3:c.287A>G	7.37:g.5330480A>G	ENSP00000380081:p.His96Arg					SLC29A4_uc011jwg.1_Non-coding_Transcript|SLC29A4_uc003soc.3_Missense_Mutation_p.H96R|SLC29A4_uc003soe.3_Missense_Mutation_p.H96R	p.H96R	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	2	448	+		Ovarian(82;0.0175)	96					Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	Missense_Mutation	SNP	ENST00000396872.3	37	c.287A>G	CCDS5340.1	.	.	.	.	.	.	.	.	.	.	A	19.16	3.774626	0.70107	.	.	ENSG00000164638	ENST00000434816;ENST00000396872;ENST00000444741;ENST00000297195;ENST00000406453	T;D;T;D;T	0.81659	1.56;-1.52;1.56;-1.52;1.56	4.15	4.15	0.48705	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.86335	0.5908	M	0.62723	1.935	0.58432	D	0.99999	D;D	0.89917	1.0;0.973	D;P	0.83275	0.996;0.654	D	0.84590	0.0666	10	0.31617	T	0.26	-10.3863	11.8321	0.52301	1.0:0.0:0.0:0.0	.	96;96	Q7RTT9-2;Q7RTT9	.;S29A4_HUMAN	R	96	ENSP00000406803:H96R;ENSP00000380081:H96R;ENSP00000413271:H96R;ENSP00000297195:H96R;ENSP00000385845:H96R	ENSP00000297195:H96R	H	+	2	0	SLC29A4	5297006	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	8.382000	0.90154	1.526000	0.49068	0.454000	0.30748	CAT		0.627	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060118.6	NM_153247	
STK31	56164	broad.mit.edu	37	7	23830449	23830449	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr7:23830449C>T	ENST00000355870.3	+	22	2763	c.2644C>T	c.(2644-2646)Cga>Tga	p.R882*	STK31_ENST00000428484.1_Nonsense_Mutation_p.R859*|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000354639.3_Nonsense_Mutation_p.R859*|STK31_ENST00000433467.2_Nonsense_Mutation_p.R882*	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	882	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GCAGAGTCAGCGAGCCTCGGT	0.378																																						uc003sws.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(2644-2646)Cga>Tga		Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.							156.0	148.0	151.0					7																	23830449		2203	4300	6503	SO:0001587	stop_gained	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23830449C>T	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.2644C>T	7.37:g.23830449C>T	ENSP00000348132:p.Arg882*					STK31_uc003swt.4_Nonsense_Mutation_p.R859*|STK31_uc011jze.2_Nonsense_Mutation_p.R882*|STK31_uc010kuq.3_Nonsense_Mutation_p.R859*|STK31_uc003swv.1_Nonsense_Mutation_p.R48*	p.R882*	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN			21	2711	+			882			Protein kinase.		B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Nonsense_Mutation	SNP	ENST00000355870.3	37	c.2644C>T	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	C	43	10.320362	0.99382	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	.	.	.	5.38	2.43	0.29744	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.3566	14.22	0.65820	0.373:0.627:0.0:0.0	.	.	.	.	X	882;882;859;859	.	ENSP00000346660:R859X	R	+	1	2	STK31	23796974	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	2.791000	0.47829	0.184000	0.20083	0.557000	0.71058	CGA		0.378	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414	
EGFR	1956	broad.mit.edu	37	7	55233035	55233035	+	Silent	SNP	C	C	T			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr7:55233035C>T	ENST00000275493.2	+	15	1962	c.1785C>T	c.(1783-1785)tgC>tgT	p.C595C	EGFR_ENST00000342916.3_Silent_p.C595C|EGFR_ENST00000344576.2_Silent_p.C595C|EGFR_ENST00000442591.1_Silent_p.C595C|EGFR_ENST00000455089.1_Silent_p.C550C|EGFR_ENST00000454757.2_Silent_p.C542C	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	595					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)			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)	TCAAGACCTGCCCGGCAGGAG	0.567		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		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"""		0				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						c.(1783-1785)tgC>tgT		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						92.0	80.0	84.0					7																	55233035		2203	4300	6503	SO:0001819	synonymous_variant	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.chr7:55233035C>T		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.1785C>T	7.37:g.55233035C>T		TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqi.3_Silent_p.C595C|EGFR_uc003tqj.3_Silent_p.C595C|EGFR_uc022adm.1_Silent_p.C595C|EGFR_uc010kzg.2_Silent_p.C550C|EGFR_uc022adn.1_Silent_p.C550C|EGFR_uc011kco.2_Silent_p.C542C|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	p.C595C	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)		14	2031	+	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)		595					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Silent	SNP	ENST00000275493.2	37	c.1785C>T	CCDS5514.1																																																																																				0.567	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
LOC407835	407835	broad.mit.edu	37	7	128767702	128767702	+	RNA	DEL	T	T	-			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr7:128767702delT	ENST00000471777.1	+	0	229																											AAGAAGCGGATTTTGCCTGCT	0.582																																						uc003voo.3																			0											c.(1129-1131)gatfs		Homo sapiens mitogen-activated protein kinase kinase 2 pseudogene (LOC407835), non-coding RNA.																																						407835							g.chr7:128767702delT																													7.37:g.128767702delT							p.D377fs							0	1378	+									Frame_Shift_Del	DEL	ENST00000471777.1	37	c.1131delT																																																																																					0.582	RP11-286H14.4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000350981.1		
MCM4	4173	broad.mit.edu	37	8	48889249	48889249	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr8:48889249A>G	ENST00000262105.2	+	16	2712	c.2503A>G	c.(2503-2505)Att>Gtt	p.I835V	RNU6-519P_ENST00000410590.1_RNA|MCM4_ENST00000523944.1_Missense_Mutation_p.I835V	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	835					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				CCCACAGGCAATTACTAAAGA	0.423																																						uc003xqk.2																			0		p.A834T(1)		biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44						c.(2503-2505)Att>Gtt		Homo sapiens minichromosome maintenance complex component 4 (MCM4), transcript variant 2, mRNA.							118.0	111.0	113.0					8																	48889249		2203	4300	6503	SO:0001583	missense	4173				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	g.chr8:48889249A>G		CCDS6143.1	8q12-q13	2008-02-05	2007-04-04		ENSG00000104738	ENSG00000104738			6947	protein-coding gene	gene with protein product		602638	"""MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)"""	CDC21		7601140	Standard	NM_005914		Approved	CDC54, hCdc21, P1-Cdc21, MGC33310	uc003xql.2	P33991	OTTHUMG00000164205	ENST00000262105.2:c.2503A>G	8.37:g.48889249A>G	ENSP00000262105:p.Ile835Val					MCM4_uc003xql.2_Missense_Mutation_p.I835V|MCM4_uc011ldi.2_Missense_Mutation_p.I822V	p.I835V	NM_182746	NP_877423	P33991	MCM4_HUMAN			16	3329	+		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)	835					Q8NEH1|Q99658	Missense_Mutation	SNP	ENST00000262105.2	37	c.2503A>G	CCDS6143.1	.	.	.	.	.	.	.	.	.	.	A	0.548	-0.850810	0.02651	.	.	ENSG00000104738	ENST00000523944;ENST00000262105;ENST00000396826;ENST00000429229;ENST00000524276	T;T	0.02579	4.24;4.24	5.95	5.95	0.96441	.	0.093060	0.64402	D	0.000001	T	0.01592	0.0051	N	0.12746	0.255	0.46542	D	0.999098	B;B	0.09022	0.002;0.002	B;B	0.12837	0.008;0.008	T	0.41840	-0.9486	10	0.02654	T	1	-27.1984	6.3605	0.21425	0.8122:0.0:0.1878:0.0	.	835;835	B3KMX0;P33991	.;MCM4_HUMAN	V	835;835;822;795;119	ENSP00000430194:I835V;ENSP00000262105:I835V	ENSP00000262105:I835V	I	+	1	0	MCM4	49051802	1.000000	0.71417	0.984000	0.44739	0.306000	0.27790	2.661000	0.46758	2.279000	0.76181	0.533000	0.62120	ATT		0.423	MCM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377791.1	NM_005914	
TTC39B	158219	broad.mit.edu	37	9	15185345	15185345	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr9:15185345G>A	ENST00000512701.2	-	16	1583	c.1547C>T	c.(1546-1548)gCt>gTt	p.A516V	TTC39B_ENST00000380850.4_Missense_Mutation_p.A503V|TTC39B_ENST00000297615.5_Missense_Mutation_p.A447V|TTC39B_ENST00000507993.1_Missense_Mutation_p.A351V|TTC39B_ENST00000507285.1_Missense_Mutation_p.A351V|TTC39B_ENST00000355694.2_Missense_Mutation_p.A450V			Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	516										NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						CTTCCTCACAGCAAACTTCTC	0.507																																						uc003zlr.2																			0		p.D516Y(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						c.(1546-1548)gCt>gTt		Homo sapiens tetratricopeptide repeat domain 39B (TTC39B), transcript variant 1, mRNA.							106.0	102.0	103.0					9																	15185345		2203	4300	6503	SO:0001583	missense	158219						binding	g.chr9:15185345G>A	AK091187	CCDS6477.1, CCDS6477.2, CCDS55294.1, CCDS55295.1, CCDS55296.1	9p22.2	2013-01-11	2008-06-23	2008-06-23	ENSG00000155158	ENSG00000155158		"""Tetratricopeptide (TTC) repeat domain containing"""	23704	protein-coding gene	gene with protein product		613574	"""chromosome 9 open reading frame 52"""	C9orf52			Standard	NM_001168339		Approved	FLJ33868	uc003zlr.2	Q5VTQ0	OTTHUMG00000019581	ENST00000512701.2:c.1547C>T	9.37:g.15185345G>A	ENSP00000422496:p.Ala516Val					TTC39B_uc003zlq.2_Missense_Mutation_p.A419V|TTC39B_uc011lmp.2_Missense_Mutation_p.A351V|TTC39B_uc010mie.2_Missense_Mutation_p.A514V|TTC39B_uc011lmr.2_Missense_Mutation_p.A447V|TTC39B_uc011lmq.2_Missense_Mutation_p.A503V|TTC39B_uc003zlp.2_Missense_Mutation_p.A33V	p.A516V	NM_152574	NP_001161814	Q5VTQ0	TT39B_HUMAN			15	1584	-			450					A5PLN1|B4DQ10|B4DQX4|B4DW93|Q8IVR7|Q8IXZ6|Q8N267	Missense_Mutation	SNP	ENST00000512701.2	37	c.1547C>T	CCDS6477.2	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995905	0.74703	.	.	ENSG00000155158	ENST00000380850;ENST00000297615;ENST00000355694;ENST00000512701;ENST00000507285;ENST00000507993	T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03;1.03	5.85	5.85	0.93711	.	0.111112	0.64402	D	0.000013	T	0.52581	0.1743	L	0.38733	1.17	0.80722	D	1	D;D;P;P;D	0.89917	1.0;1.0;0.526;0.526;1.0	D;D;P;P;D	0.97110	1.0;1.0;0.557;0.557;0.998	T	0.32955	-0.9887	10	0.02654	T	1	-11.4383	20.1588	0.98128	0.0:0.0:1.0:0.0	.	447;503;448;450;33	F5H705;E9PAQ9;A5PLN1;Q5VTQ0;Q8IXZ6	.;.;.;TT39B_HUMAN;.	V	503;447;450;516;351;351	ENSP00000370231:A503V;ENSP00000297615:A447V;ENSP00000347920:A450V;ENSP00000422496:A516V;ENSP00000426539:A351V;ENSP00000423392:A351V	ENSP00000297615:A447V	A	-	2	0	TTC39B	15175345	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.700000	0.98707	2.770000	0.95276	0.563000	0.77884	GCT		0.507	TTC39B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051758.3	NM_152574	
RP11-383M4.6	0	broad.mit.edu	37	9	84547688	84547688	+	lincRNA	SNP	G	G	A			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr9:84547688G>A	ENST00000585776.1	-	0	1039				SPATA31D4_ENST00000341875.4_RNA|RP11-383M4.2_ENST00000427387.1_lincRNA																							ATTAAACATCGAAATTTGGCA	0.458																																						uc004amh.2																			0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(57)|ovary(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(2611-2613)cGa>cAa		Homo sapiens family with sequence similarity 75, member D4 (FAM75D4), mRNA.							59.0	57.0	58.0					9																	84547688		674	1534	2208			389761					integral to membrane		g.chr9:84547688G>A																													9.37:g.84547688G>A						AK097447_uc004ami.1_Intron|DQ577940_uc004amj.1_5'Flank	p.R871Q	NM_001145197	NP_001138669	Q6ZUB0	YI020_HUMAN			3	2698	+			871						Missense_Mutation	SNP	ENST00000585776.1	37	c.2612G>A																																																																																					0.458	RP11-383M4.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000453562.1		
TMEM246	84302	broad.mit.edu	37	9	104238682	104238682	+	Silent	SNP	G	G	A			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr9:104238682G>A	ENST00000374851.1	-	4	1840	c.693C>T	c.(691-693)cgC>cgT	p.R231R	RP11-490D19.6_ENST00000425734.1_RNA|RP11-490D19.6_ENST00000450109.1_RNA|RP11-490D19.6_ENST00000424154.1_RNA|TMEM246_ENST00000374848.3_Silent_p.R231R|TMEM246_ENST00000374847.1_Silent_p.R231R|RP11-490D19.6_ENST00000431507.1_RNA			Q9BRR3	TM246_HUMAN	transmembrane protein 246	231						integral component of membrane (GO:0016021)											GCTCAGAGAAGCGAGCCCGCA	0.542																																						uc004bbm.3																			0											c.(691-693)cgC>cgT		Homo sapiens chromosome 9 open reading frame 125 (C9orf125), mRNA.							77.0	73.0	74.0					9																	104238682		2203	4300	6503	SO:0001819	synonymous_variant	84302					integral to membrane		g.chr9:104238682G>A	BC006115	CCDS6757.1	9q31.1	2012-04-02	2012-04-02	2012-04-02	ENSG00000165152	ENSG00000165152			28180	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 125"""	C9orf125		12477932	Standard	NM_032342		Approved	MGC12992	uc004bbm.3	Q9BRR3	OTTHUMG00000020381	ENST00000374851.1:c.693C>T	9.37:g.104238682G>A						AK094413_uc004bbl.1_5'Flank|TMEM246_uc022blf.1_Silent_p.R231R	p.R231R	NM_032342	NP_115718	Q9BRR3	CI125_HUMAN			1	1015	-			231					Q49AQ4	Silent	SNP	ENST00000374851.1	37	c.693C>T	CCDS6757.1																																																																																				0.542	TMEM246-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053444.1	NM_032342	
SMC2	10592	broad.mit.edu	37	9	106885401	106885401	+	Silent	SNP	A	A	G			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr9:106885401A>G	ENST00000286398.7	+	17	2433	c.2145A>G	c.(2143-2145)ctA>ctG	p.L715L	SMC2_ENST00000374787.3_Silent_p.L715L|SMC2_ENST00000374793.3_Silent_p.L715L|SMC2_ENST00000303219.8_Silent_p.L715L	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	715					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						ATCGCCAACTAAAACAGCAGT	0.348																																						uc004bbv.3																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						c.(2143-2145)ctA>ctG		Homo sapiens structural maintenance of chromosomes 2 (SMC2), transcript variant 2, mRNA.							67.0	62.0	64.0					9																	106885401		2203	4300	6503	SO:0001819	synonymous_variant	10592				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	g.chr9:106885401A>G	AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.2145A>G	9.37:g.106885401A>G						SMC2_uc004bbu.1_Silent_p.L715L|SMC2_uc004bbw.3_Silent_p.L715L|SMC2_uc011lvl.2_Silent_p.L715L|SMC2_uc004bbx.3_Silent_p.L715L	p.L715L	NM_001042551	NP_006435	O95347	SMC2_HUMAN			16	2433	+			715					Q6IEE0|Q9P1P2	Silent	SNP	ENST00000286398.7	37	c.2145A>G	CCDS35086.1																																																																																				0.348	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1		
COL27A1	85301	broad.mit.edu	37	9	117071558	117071558	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr9:117071558C>T	ENST00000356083.3	+	60	5627	c.5236C>T	c.(5236-5238)Cgg>Tgg	p.R1746W		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1746	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TGCCATCAGCCGGGTCCAGAT	0.607																																						uc011lxl.2																			0		p.R1746L(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.(5236-5238)Cgg>Tgg		Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.							140.0	145.0	143.0					9																	117071558		2203	4300	6503	SO:0001583	missense	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:117071558C>T	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.5236C>T	9.37:g.117071558C>T	ENSP00000348385:p.Arg1746Trp					COL27A1_uc004bii.3_Non-coding_Transcript|COL27A1_uc011lxn.2_Missense_Mutation_p.R61W	p.R1746W	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN			59	5236	+			1746			Fibrillar collagen NC1.		Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	c.5236C>T	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.441536	0.63067	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	T	0.73789	-0.78	5.53	5.53	0.82687	Fibrillar collagen, C-terminal (3);	.	.	.	.	D	0.83004	0.5160	M	0.61703	1.905	0.50039	D	0.999844	D;D	0.89917	0.999;1.0	D;D	0.80764	0.967;0.994	D	0.83547	0.0099	9	0.72032	D	0.01	.	11.8241	0.52256	0.1745:0.8255:0.0:0.0	.	61;1746	Q9HAA3;Q8IZC6	.;CORA1_HUMAN	W	1746;1753	ENSP00000348385:R1746W	ENSP00000348385:R1746W	R	+	1	2	COL27A1	116111379	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.007000	0.49536	2.882000	0.98803	0.655000	0.94253	CGG		0.607	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888	
ATP6V1G1	9550	broad.mit.edu	37	9	117359986	117359986	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr9:117359986G>A	ENST00000374050.3	+	3	413	c.320G>A	c.(319-321)cGg>cAg	p.R107Q		NM_004888.3	NP_004879.1	O75348	VATG1_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1	107					cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATPase binding (GO:0051117)|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)			endometrium(1)|lung(2)|prostate(1)|skin(1)	5						TGTGACATTCGGCCAGAAATC	0.478																																						uc004bjc.3																			0		p.R107R(1)		endometrium(1)|lung(2)|prostate(1)|skin(1)	5						c.(319-321)cGg>cAg		Homo sapiens ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 (ATP6V1G1), mRNA.							93.0	84.0	87.0					9																	117359986		2203	4300	6503	SO:0001583	missense	9550				cellular iron ion homeostasis|insulin receptor signaling pathway|proton transport|transferrin transport	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex	ATPase binding|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances	g.chr9:117359986G>A	AF038954	CCDS6807.1	9q33.1	2010-04-21	2006-01-13	2002-05-10	ENSG00000136888	ENSG00000136888		"""ATPases / V-type"""	864	protein-coding gene	gene with protein product		607296	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), member J"", ""ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G isoform 1"""	ATP6J, ATP6G1		9653160	Standard	NM_004888		Approved	ATP6GL, Vma10, ATP6G, DKFZp547P234	uc004bjc.3	O75348	OTTHUMG00000021023	ENST00000374050.3:c.320G>A	9.37:g.117359986G>A	ENSP00000363162:p.Arg107Gln						p.R107Q	NM_004888	NP_004879	O75348	VATG1_HUMAN			2	445	+			107					Q6IB33	Missense_Mutation	SNP	ENST00000374050.3	37	c.320G>A	CCDS6807.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271615	0.59649	.	.	ENSG00000136888	ENST00000374050	T	0.40756	1.02	6.17	1.88	0.25563	.	0.390390	0.29916	N	0.010872	T	0.19927	0.0479	N	0.11560	0.145	0.35984	D	0.836192	B	0.11235	0.004	B	0.08055	0.003	T	0.08106	-1.0738	10	0.31617	T	0.26	.	6.4515	0.21906	0.617:0.0:0.383:0.0	.	107	O75348	VATG1_HUMAN	Q	107	ENSP00000363162:R107Q	ENSP00000363162:R107Q	R	+	2	0	ATP6V1G1	116399807	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	4.003000	0.57061	0.492000	0.27815	0.655000	0.94253	CGG		0.478	ATP6V1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055454.1	NM_004888	
NSMF	26012	broad.mit.edu	37	9	140351900	140351900	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr9:140351900C>T	ENST00000371475.3	-	3	818	c.587G>A	c.(586-588)cGc>cAc	p.R196H	NSMF_ENST00000371468.1_5'Flank|NSMF_ENST00000371472.2_Missense_Mutation_p.R196H|PNPLA7_ENST00000492278.1_5'Flank|NSMF_ENST00000371474.3_Missense_Mutation_p.R196H|NSMF_ENST00000437259.1_Missense_Mutation_p.R196H|NSMF_ENST00000371482.1_5'Flank|NSMF_ENST00000392812.4_Missense_Mutation_p.R196H|NSMF_ENST00000371473.3_Missense_Mutation_p.R196H|NSMF_ENST00000541195.1_5'Flank|NSMF_ENST00000339554.3_5'UTR|NSMF_ENST00000265663.7_Missense_Mutation_p.R196H	NM_001130969.1	NP_001124441.1	Q6X4W1	NSMF_HUMAN	NMDA receptor synaptonuclear signaling and neuronal migration factor	196	Necessary and sufficient to elicit dendritic processes and synaptic contacts. {ECO:0000250}.		R -> H (in HH9; phenotype consistent with Kallmann syndrome; the patient also carries a mutation in FGFR1). {ECO:0000269|PubMed:23643382}.		cellular response to amino acid stimulus (GO:0071230)|cellular response to electrical stimulus (GO:0071257)|cellular response to gonadotropin stimulus (GO:0071371)|positive regulation of neuron migration (GO:2001224)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of dendrite morphogenesis (GO:0048814)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuronal synaptic plasticity (GO:0048168)	apical dendrite (GO:0097440)|cell junction (GO:0030054)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuron projection (GO:0043005)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium-dependent protein binding (GO:0048306)										CAGCTTCTTGCGGCGACCGGA	0.652																																						uc004cna.3																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	10						c.(586-588)cGc>cAc		Homo sapiens nasal embryonic LHRH factor (NELF), transcript variant 1, mRNA.							70.0	40.0	50.0					9																	140351900		2200	4288	6488	SO:0001583	missense	26012					nucleus|plasma membrane		g.chr9:140351900C>T		CCDS7044.1, CCDS48067.1, CCDS48068.1, CCDS48069.1, CCDS55357.1	9q34.3	2013-01-14	2013-01-14	2013-01-14	ENSG00000165802	ENSG00000165802			29843	protein-coding gene	gene with protein product		608137	"""nasal embryonic LHRH factor"""	NELF		11230166, 10898796	Standard	NM_015537		Approved		uc004cna.3	Q6X4W1	OTTHUMG00000020989	ENST00000371475.3:c.587G>A	9.37:g.140351900C>T	ENSP00000360530:p.Arg196His					NELF_uc011mex.2_5'Flank|NELF_uc010nci.3_5'Flank|NELF_uc011mey.2_Non-coding_Transcript|NELF_uc004cnb.3_Missense_Mutation_p.R196H|NELF_uc004cmz.3_Missense_Mutation_p.R196H|NELF_uc011mez.2_Missense_Mutation_p.R196H|NELF_uc004cnc.3_Missense_Mutation_p.R196H|NELF_uc022bqi.1_Missense_Mutation_p.R196H	p.R196H	NM_001130969	NP_001124441	Q6X4W1	NELF_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000222)|Epithelial(140;0.000888)	2	819	-	all_cancers(76;0.0926)		196					Q2TB96|Q6X4V7|Q6X4V8|Q6X4V9|Q8N2M2|Q96SY1|Q9NPM4|Q9NPP3|Q9NPS3	Missense_Mutation	SNP	ENST00000371475.3	37	c.587G>A	CCDS48069.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.103040	0.37145	.	.	ENSG00000165802	ENST00000371475;ENST00000265663;ENST00000437259;ENST00000392812;ENST00000371474;ENST00000371473;ENST00000371472	T;T;T;T;T;T;T	0.47869	0.84;0.84;0.83;0.83;0.83;0.85;0.84	4.41	1.39	0.22231	.	0.447120	0.20443	N	0.092257	T	0.25382	0.0617	N	0.17082	0.46	0.80722	D	1	B;B;B;B;B	0.14012	0.009;0.009;0.009;0.007;0.007	B;B;B;B;B	0.11329	0.006;0.006;0.006;0.004;0.004	T	0.05022	-1.0911	10	0.19590	T	0.45	-8.1039	6.0132	0.19588	0.0:0.6648:0.1562:0.1789	.	196;196;196;196;196	Q6X4W1-3;Q2TB96;Q6X4W1-4;Q6X4W1;Q6X4W1-2	.;.;.;NELF_HUMAN;.	H	196	ENSP00000360530:R196H;ENSP00000265663:R196H;ENSP00000412007:R196H;ENSP00000376559:R196H;ENSP00000360529:R196H;ENSP00000360528:R196H;ENSP00000360527:R196H	ENSP00000265663:R196H	R	-	2	0	NELF	139471721	1.000000	0.71417	0.995000	0.50966	0.912000	0.54170	1.487000	0.35540	-0.012000	0.14223	0.555000	0.69702	CGC		0.652	NSMF-204	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015537	
SHOX	6473	broad.mit.edu	37	X	591909	591909	+	Splice_Site	SNP	G	G	A			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chrX:591909G>A	ENST00000554971.1	+	1	368	c.277G>A	c.(277-279)Ggg>Agg	p.G93R	SHOX_ENST00000334060.3_Splice_Site_p.G93R|SHOX_ENST00000381575.1_Splice_Site_p.G93R|SHOX_ENST00000381578.1_Splice_Site_p.G93R			O15266	SHOX_HUMAN	short stature homeobox	93					skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|lung(9)|prostate(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGTGGCAGAAGGTAAGTTCCT	0.647																																					Ovarian(95;18 1419 12424 14056 28266)	uc004cph.1																			0				endometrium(3)|lung(9)|prostate(1)	13						c.e2+1		Homo sapiens short stature homeobox (SHOX), transcript variant 1, mRNA.							45.0	54.0	51.0					X																	591909		2203	4296	6499	SO:0001630	splice_region_variant	6473				skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:591909G>A	U82668	CCDS14106.1, CCDS14107.1	Xp22.33 and Yp11.32	2014-07-16			ENSG00000185960	ENSG00000185960		"""Pseudoautosomal regions / PAR1"", ""Homeoboxes / PRD class"""	10853	protein-coding gene	gene with protein product		312865, 400020				9259282, 9140395	Standard	XR_247282		Approved	PHOG, GCFX, SS, SHOXY	uc004cph.1	O15266	OTTHUMG00000021053	ENST00000554971.1:c.277+1G>A	X.37:g.591909G>A						SHOX_uc004cpi.3_Splice_Site_p.G93_splice	p.G93_splice	NM_000451	NP_000442	O15266	SHOX_HUMAN			2	968	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	93					O00412|O00413|O15267	Missense_Mutation	SNP	ENST00000554971.1	37	c.277_splice	CCDS14107.1	.	.	.	.	.	.	.	.	.	.	G	7.454	0.643284	0.14451	.	.	ENSG00000185960	ENST00000334060;ENST00000381578;ENST00000554971;ENST00000381575	D;D;D;D	0.94576	-3.46;-3.33;-3.33;-3.46	1.73	1.73	0.24493	.	0.487586	0.20583	U	0.089488	D	0.91442	0.7299	M	0.69823	2.125	0.09310	N	1	B;B	0.13145	0.007;0.0	B;B	0.12156	0.007;0.002	T	0.76852	-0.2806	10	0.09590	T	0.72	.	11.6658	0.51372	0.0:0.0:1.0:0.0	.	93;93	O15266-2;O15266	.;SHOX_HUMAN	R	93	ENSP00000335505:G93R;ENSP00000370990:G93R;ENSP00000452016:G93R;ENSP00000370987:G93R	ENSP00000335505:G93R	G	+	1	0	SHOX	511909	1.000000	0.71417	0.159000	0.22649	0.020000	0.10135	6.881000	0.75584	0.764000	0.33197	0.275000	0.19346	GGG		0.647	SHOX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411999.3	NM_000451	Missense_Mutation
FOXR2	139628	broad.mit.edu	37	X	55650926	55650926	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chrX:55650926A>C	ENST00000339140.3	+	1	1094	c.782A>C	c.(781-783)gAt>gCt	p.D261A		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	261					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						AAGGATGAAGATAATGCAAGA	0.517																																						uc004duo.3																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(781-783)gAt>gCt		Homo sapiens forkhead box R2 (FOXR2), mRNA.							89.0	80.0	83.0					X																	55650926		2203	4300	6503	SO:0001583	missense	139628				embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chrX:55650926A>C	BC012934	CCDS35308.1	Xp11	2006-12-15			ENSG00000189299	ENSG00000189299		"""Forkhead boxes"""	30469	protein-coding gene	gene with protein product						15202009, 15202027	Standard	NM_198451		Approved	MGC21658, FOXN6	uc004duo.3	Q6PJQ5	OTTHUMG00000021661	ENST00000339140.3:c.782A>C	X.37:g.55650926A>C	ENSP00000427329:p.Asp261Ala						p.D261A	NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN			0	1094	+			261						Missense_Mutation	SNP	ENST00000339140.3	37	c.782A>C	CCDS35308.1	.	.	.	.	.	.	.	.	.	.	A	0.008	-1.866641	0.00547	.	.	ENSG00000189299	ENST00000339140	D	0.95205	-3.64	3.37	0.4	0.16331	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	2.386240	0.01645	N	0.024271	T	0.81969	0.4935	N	0.02539	-0.55	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.77308	-0.2636	10	0.08837	T	0.75	.	1.2977	0.02073	0.2345:0.4235:0.2044:0.1377	.	261	Q6PJQ5	FOXR2_HUMAN	A	261	ENSP00000427329:D261A	ENSP00000427329:D261A	D	+	2	0	FOXR2	55667651	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.655000	0.05348	-0.034000	0.13713	-0.269000	0.10298	GAT		0.517	FOXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056877.2	NM_198451	
