#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SLC30A3	7781	broad.mit.edu	37	2	27480105	27480105	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr2:27480105C>T	ENST00000233535.4	-	5	1046	c.694G>A	c.(694-696)Gtc>Atc	p.V232I	SLC30A3_ENST00000447008.2_Missense_Mutation_p.V227I	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	232					positive regulation of transport (GO:0051050)|regulation of sequestering of zinc ion (GO:0061088)|transmembrane transport (GO:0055085)|transport (GO:0006810)|zinc ion transmembrane transport (GO:0071577)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	zinc transporting ATPase activity (GO:0015633)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCGCCCGGACGCTGGTGTTC	0.647																																						ENST00000233535.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20						c.(694-696)Gtc>Atc		solute carrier family 30 (zinc transporter), member 3							48.0	48.0	48.0					2																	27480105		2203	4300	6503	SO:0001583	missense	7781				regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity	g.chr2:27480105C>T	U76010	CCDS1743.1	2p23.3	2013-05-22			ENSG00000115194	ENSG00000115194		"""Solute carriers"""	11014	protein-coding gene	gene with protein product		602878		ZNT3		8962159	Standard	NM_003459		Approved		uc002rjj.3	Q99726	OTTHUMG00000128409	ENST00000233535.4:c.694G>A	2.37:g.27480105C>T	ENSP00000233535:p.Val232Ile					SLC30A3_ENST00000447008.2_Missense_Mutation_p.V227I	p.V232I	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN			5	1046	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		232					Q8TC03	Missense_Mutation	SNP	ENST00000233535.4	37	c.694G>A	CCDS1743.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.286900	0.80803	.	.	ENSG00000115194	ENST00000233535;ENST00000447008;ENST00000445870;ENST00000432351;ENST00000426924	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.75019	0.3793	L	0.61036	1.89	0.58432	D	0.999999	D;D	0.71674	0.997;0.998	P;D	0.64595	0.88;0.927	T	0.76116	-0.3077	10	0.51188	T	0.08	-32.5045	16.1547	0.81649	0.0:1.0:0.0:0.0	.	227;232	F5H3B7;Q99726	.;ZNT3_HUMAN	I	232;227;169;183;219	ENSP00000233535:V232I;ENSP00000415226:V227I;ENSP00000414320:V183I;ENSP00000393545:V219I	ENSP00000233535:V232I	V	-	1	0	SLC30A3	27333609	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	5.936000	0.70153	2.489000	0.83994	0.555000	0.69702	GTC		0.647	SLC30A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250189.2			20	36	0	0	0	1	0	20	36				
VWF	7450	broad.mit.edu	37	12	6103064	6103064	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr12:6103064C>T	ENST00000261405.5	-	37	6816	c.6562G>A	c.(6562-6564)Ggg>Agg	p.G2188R		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2188					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	ACGCAGACCCCGTTGGTCCGA	0.557																																						ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(6562-6564)Ggg>Agg		von Willebrand factor	Antihemophilic Factor(DB00025)						66.0	56.0	59.0					12																	6103064		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6103064C>T		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.6562G>A	12.37:g.6103064C>T	ENSP00000261405:p.Gly2188Arg						p.G2188R	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			37	6816	-			2188					Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.6562G>A	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327682	0.81690	.	.	ENSG00000110799	ENST00000261405	D	0.81908	-1.55	5.3	5.3	0.74995	Uncharacterised domain, cysteine-rich (2);	0.000000	0.42964	D	0.000622	D	0.94006	0.8080	H	0.95402	3.665	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95620	0.8680	10	0.87932	D	0	.	17.9818	0.89144	0.0:1.0:0.0:0.0	.	2188	P04275	VWF_HUMAN	R	2188	ENSP00000261405:G2188R	ENSP00000261405:G2188R	G	-	1	0	VWF	5973325	0.997000	0.39634	0.919000	0.36401	0.967000	0.64934	4.894000	0.63206	2.482000	0.83794	0.655000	0.94253	GGG		0.557	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		16	49	0	0	0	1	0	16	49				
ATP8A2	51761	broad.mit.edu	37	13	26411376	26411376	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr13:26411376C>T	ENST00000381655.2	+	29	2972	c.2830C>T	c.(2830-2832)Ccc>Tcc	p.P944S	ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Missense_Mutation_p.P879S	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	904					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.P944S(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GCTCAGGTTTCCCCAGCTCTA	0.493																																						ENST00000381655.2																			1	Substitution - Missense(1)	p.P944S(1)	ovary(1)	breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72						c.(2830-2832)Ccc>Tcc		ATPase, aminophospholipid transporter, class I, type 8A, member 2							120.0	114.0	116.0					13																	26411376		1930	4130	6060	SO:0001583	missense	51761				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:26411376C>T	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.2830C>T	13.37:g.26411376C>T	ENSP00000371070:p.Pro944Ser					ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Missense_Mutation_p.P879S	p.P944S	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)	29	2972	+		Breast(139;0.0201)|Lung SC(185;0.0225)	904					Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	c.2830C>T	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	C	32	5.161683	0.94727	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	D;D	0.99070	-5.39;-5.39	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.99603	0.9856	H	0.96662	3.86	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.995;0.998;0.991	D	0.97938	1.0324	10	0.87932	D	0	.	20.1184	0.97949	0.0:1.0:0.0:0.0	.	879;724;904	B7Z880;F5GZN5;Q9NTI2	.;.;AT8A2_HUMAN	S	944;879;724	ENSP00000371070:P944S;ENSP00000255283:P879S	ENSP00000255283:P879S	P	+	1	0	ATP8A2	25309376	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	7.818000	0.86416	2.769000	0.95229	0.655000	0.94253	CCC		0.493	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529		16	133	0	0	0	1	0	16	133				
SLC22A18	5002	broad.mit.edu	37	11	2940615	2940615	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr11:2940615C>G	ENST00000380574.1	+	8	1273	c.842C>G	c.(841-843)tCc>tGc	p.S281C	SLC22A18_ENST00000347936.2_Missense_Mutation_p.S281C|SLC22A18_ENST00000449793.2_Missense_Mutation_p.S183C|SLC22A18_ENST00000312221.5_Missense_Mutation_p.S281C|SLC22A18_ENST00000441077.1_3'UTR			Q96BI1	S22AI_HUMAN	solute carrier family 22, member 18	281					drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|excretion (GO:0007588)|organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|symporter activity (GO:0015293)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)		TACCTCATGTCCTTCTTCGGG	0.632																																						ENST00000380574.1																			0				central_nervous_system(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8						c.(841-843)tCc>tGc		solute carrier family 22, member 18							76.0	72.0	73.0					11																	2940615		2202	4299	6501	SO:0001583	missense	5002				excretion|organic cation transport	apical plasma membrane|cytoplasmic part|integral to membrane|nuclear envelope	drug:hydrogen antiporter activity|symporter activity|ubiquitin protein ligase binding	g.chr11:2940615C>G	AF028738	CCDS7740.1	11p15.5	2013-05-22	2008-01-11	2004-01-21	ENSG00000110628	ENSG00000110628		"""Solute carriers"""	10964	protein-coding gene	gene with protein product		602631	"""solute carrier family 22 (organic cation transporter), member 1-like"""	ORCTL2, BWSCR1A, IMPT1, SLC22A1L		9499412, 9520460	Standard	NM_183233		Approved	BWR1A, TSSC5, ITM	uc001lwx.3	Q96BI1	OTTHUMG00000010037	ENST00000380574.1:c.842C>G	11.37:g.2940615C>G	ENSP00000369948:p.Ser281Cys					SLC22A18_ENST00000312221.5_Missense_Mutation_p.S281C|SLC22A18_ENST00000441077.1_3'UTR|SLC22A18_ENST00000449793.2_Missense_Mutation_p.S183C|SLC22A18_ENST00000347936.2_Missense_Mutation_p.S281C	p.S281C			Q96BI1	S22AI_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)	8	1273	+		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)	281					O14906|O43562|O60485|O60680|Q7LDS5|Q7LGF7	Missense_Mutation	SNP	ENST00000380574.1	37	c.842C>G	CCDS7740.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.147245	0.57151	.	.	ENSG00000110628	ENST00000347936;ENST00000312221;ENST00000449793;ENST00000380574	T;T;T;T	0.61627	0.21;0.21;0.09;0.21	4.08	4.08	0.47627	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.259458	0.31601	N	0.007367	T	0.70876	0.3274	M	0.64997	1.995	0.42251	D	0.991972	D;D	0.89917	1.0;0.998	D;D	0.69654	0.962;0.965	T	0.75144	-0.3421	10	0.72032	D	0.01	-2.408	13.2568	0.60083	0.0:1.0:0.0:0.0	.	183;281	E9PRM7;Q96BI1	.;S22AI_HUMAN	C	281;281;183;281	ENSP00000307859:S281C;ENSP00000311139:S281C;ENSP00000392072:S183C;ENSP00000369948:S281C	ENSP00000311139:S281C	S	+	2	0	SLC22A18	2897191	1.000000	0.71417	1.000000	0.80357	0.588000	0.36517	6.005000	0.70716	1.848000	0.53677	0.196000	0.17591	TCC		0.632	SLC22A18-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027770.1	NM_183233		15	118	0	0	0	1	0	15	118				
HTR1F	3355	broad.mit.edu	37	3	88040261	88040261	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr3:88040261G>A	ENST00000319595.4	+	1	416	c.362G>A	c.(361-363)cGg>cAg	p.R121Q		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	121					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Ketamine(DB01221)|Methysergide(DB00247)|Mianserin(DB06148)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	GCTTTGGATCGGTATCGAGCA	0.438																																						ENST00000319595.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						c.(361-363)cGg>cAg		5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)						82.0	71.0	75.0					3																	88040261		2203	4300	6503	SO:0001583	missense	3355				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity	g.chr3:88040261G>A	L05597	CCDS2920.1	3p12	2012-08-08	2012-02-03		ENSG00000179097	ENSG00000179097		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5292	protein-coding gene	gene with protein product		182134	"""5-hydroxytryptamine (serotonin) receptor 1F"""			8384716, 8380639	Standard	NM_000866		Approved	HTR1EL, 5-HT1F	uc003dqr.2	P30939	OTTHUMG00000159008	ENST00000319595.4:c.362G>A	3.37:g.88040261G>A	ENSP00000322924:p.Arg121Gln						p.R121Q	NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	1	416	+	all_cancers(8;0.147)	Lung NSC(201;0.0283)	121						Missense_Mutation	SNP	ENST00000319595.4	37	c.362G>A	CCDS2920.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.674238	0.88445	.	.	ENSG00000179097	ENST00000319595	D	0.97161	-4.27	5.18	5.18	0.71444	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.98918	0.9633	H	0.95504	3.68	0.53005	D	0.999963	D	0.89917	1.0	D	0.91635	0.999	D	0.99597	1.0977	10	0.87932	D	0	.	16.1741	0.81840	0.0:0.0:1.0:0.0	.	121	P30939	5HT1F_HUMAN	Q	121	ENSP00000322924:R121Q	ENSP00000322924:R121Q	R	+	2	0	HTR1F	88122951	1.000000	0.71417	0.997000	0.53966	0.957000	0.61999	9.823000	0.99369	2.426000	0.82243	0.484000	0.47621	CGG		0.438	HTR1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352890.1	NM_000866		27	72	0	0	0	1	0	27	72				
SREBF2	6721	broad.mit.edu	37	22	42280888	42280888	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr22:42280888C>T	ENST00000361204.4	+	11	2247	c.2081C>T	c.(2080-2082)gCg>gTg	p.A694V		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	694					cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GTACACATGGCGTTGTGTGCC	0.547																																						ENST00000361204.4																			0				NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(2080-2082)gCg>gTg		sterol regulatory element binding transcription factor 2							133.0	106.0	115.0					22																	42280888		2203	4300	6503	SO:0001583	missense	6721				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding	g.chr22:42280888C>T	U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"""Basic helix-loop-helix proteins"""	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.2081C>T	22.37:g.42280888C>T	ENSP00000354476:p.Ala694Val						p.A694V	NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN			11	2247	+			694					Q05BD5|Q6GTH7|Q86V36|Q9UH04	Missense_Mutation	SNP	ENST00000361204.4	37	c.2081C>T	CCDS14023.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361930	0.82353	.	.	ENSG00000198911	ENST00000361204;ENST00000457567	T	0.16324	2.35	4.76	4.76	0.60689	.	0.052611	0.85682	D	0.000000	T	0.35740	0.0942	L	0.58101	1.795	0.80722	D	1	D	0.71674	0.998	P	0.60012	0.867	T	0.09618	-1.0666	10	0.52906	T	0.07	-10.4939	17.7719	0.88495	0.0:1.0:0.0:0.0	.	694	Q12772	SRBP2_HUMAN	V	694	ENSP00000354476:A694V	ENSP00000354476:A694V	A	+	2	0	SREBF2	40610834	1.000000	0.71417	0.956000	0.39512	0.183000	0.23260	7.567000	0.82357	2.219000	0.72066	0.313000	0.20887	GCG		0.547	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599		4	89	0	0	0	1	0	4	89				
ATP2B3	492	broad.mit.edu	37	X	152826216	152826216	+	Silent	SNP	C	C	T			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chrX:152826216C>T	ENST00000349466.2	+	18	3248	c.2922C>T	c.(2920-2922)aaC>aaT	p.N974N	ATP2B3_ENST00000359149.3_Silent_p.N974N|ATP2B3_ENST00000393842.1_Silent_p.N960N|ATP2B3_ENST00000263519.4_Silent_p.N974N|ATP2B3_ENST00000370181.2_Silent_p.N960N|ATP2B3_ENST00000370186.1_Silent_p.N960N|ATP2B3_ENST00000460549.1_3'UTR			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	974					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCATCTTCAACACGTTCGTCA	0.557																																						ENST00000370186.1																			0				NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50						c.(2878-2880)aaC>aaT		ATPase, Ca++ transporting, plasma membrane 3							265.0	193.0	217.0					X																	152826216		2203	4300	6503	SO:0001819	synonymous_variant	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152826216C>T	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.2922C>T	X.37:g.152826216C>T						ATP2B3_ENST00000393842.1_Silent_p.N960N|ATP2B3_ENST00000370181.2_Silent_p.N960N|ATP2B3_ENST00000359149.3_Silent_p.N974N|ATP2B3_ENST00000349466.2_Silent_p.N974N|ATP2B3_ENST00000263519.4_Silent_p.N974N|ATP2B3_ENST00000460549.1_3'UTR	p.N960N			Q16720	AT2B3_HUMAN			17	3206	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		974					B7WNR8|B7WNY5|Q12995|Q16858	Silent	SNP	ENST00000349466.2	37	c.2880C>T	CCDS35440.1																																																																																				0.557	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		49	87	0	0	0	1	0	49	87				
TAF1B	9014	broad.mit.edu	37	2	10008510	10008510	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr2:10008510G>A	ENST00000263663.5	+	6	693	c.505G>A	c.(505-507)Gac>Aac	p.D169N	TAF1B_ENST00000396242.3_5'UTR|TAF1B_ENST00000402170.1_3'UTR	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	169	N-terminal cyclin fold.				gene expression (GO:0010467)|RNA polymerase I transcriptional preinitiation complex assembly at the promoter for the nuclear large rRNA transcript (GO:0001189)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I core factor complex (GO:0070860)	metal ion binding (GO:0046872)|RNA polymerase I CORE element sequence-specific DNA binding (GO:0001164)|RNA polymerase I CORE element sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001187)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TBP-class protein binding (GO:0017025)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTCTCAGTCTGACATCCACAC	0.438																																						ENST00000263663.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(505-507)Gac>Aac		TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa							95.0	83.0	87.0					2																	10008510		2203	4300	6503	SO:0001583	missense	9014				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:10008510G>A	L39061	CCDS33143.1	2p25	2008-06-02	2002-08-29		ENSG00000115750	ENSG00000115750			11533	protein-coding gene	gene with protein product		604904	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kD"""			7801123	Standard	NM_005680		Approved	TAFI63, SL1, RAF1B, RAFI63	uc002qzz.3	Q53T94	OTTHUMG00000151673	ENST00000263663.5:c.505G>A	2.37:g.10008510G>A	ENSP00000263663:p.Asp169Asn					TAF1B_ENST00000402170.1_3'UTR|TAF1B_ENST00000396242.3_5'UTR	p.D169N	NM_005680.2	NP_005671.2	Q53T94	TAF1B_HUMAN			6	693	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		169					B4DI42|F8WD72|Q15574|Q8WVC3	Missense_Mutation	SNP	ENST00000263663.5	37	c.505G>A	CCDS33143.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.822823	0.32237	.	.	ENSG00000115750	ENST00000263663;ENST00000402170	T	0.02579	4.24	5.41	5.41	0.78517	.	0.466873	0.25186	N	0.032482	T	0.07908	0.0198	M	0.63843	1.955	0.80722	D	1	D;B;B	0.54047	0.964;0.003;0.003	P;B;B	0.50314	0.637;0.003;0.006	T	0.06881	-1.0802	9	.	.	.	-20.1973	14.5601	0.68130	0.0:0.0:1.0:0.0	.	169;169;169	B5MD29;Q53T94;Q53T94-2	.;TAF1B_HUMAN;.	N	169	ENSP00000263663:D169N	.	D	+	1	0	TAF1B	9925961	1.000000	0.71417	0.939000	0.37840	0.023000	0.10783	2.108000	0.41854	2.798000	0.96311	0.655000	0.94253	GAC		0.438	TAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323426.2	NM_005680		53	67	0	0	0	1	0	53	67				
LRRC18	474354	broad.mit.edu	37	10	50122062	50122062	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr10:50122062G>C	ENST00000374160.3	-	1	215	c.139C>G	c.(139-141)Ctg>Gtg	p.L47V	WDFY4_ENST00000413659.2_Intron|WDFY4_ENST00000325239.5_Intron|RP11-523O18.7_ENST00000430438.1_RNA|LRRC18_ENST00000298124.3_Missense_Mutation_p.L47V	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	47						cytoplasm (GO:0005737)				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						CTAAGGCGCAGAATACACTTG	0.507																																						ENST00000374160.3																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						c.(139-141)Ctg>Gtg		leucine rich repeat containing 18							98.0	86.0	90.0					10																	50122062		2203	4300	6503	SO:0001583	missense	474354					cytoplasm		g.chr10:50122062G>C	AY358137	CCDS31197.1	10q11.23	2011-02-10			ENSG00000165383	ENSG00000165383			23199	protein-coding gene	gene with protein product							Standard	NM_001006939		Approved	UNQ933, MGC34773, UNQ9338, VKGE9338	uc001jhd.3	Q8N456	OTTHUMG00000018182	ENST00000374160.3:c.139C>G	10.37:g.50122062G>C	ENSP00000363275:p.Leu47Val					LRRC18_ENST00000298124.3_Missense_Mutation_p.L47V|WDFY4_ENST00000325239.5_Intron|WDFY4_ENST00000413659.2_Intron|RP11-523O18.7_ENST00000430438.1_RNA	p.L47V	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN			1	215	-			47					Q6UY02	Missense_Mutation	SNP	ENST00000374160.3	37	c.139C>G	CCDS31197.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.151092	0.38021	.	.	ENSG00000165383	ENST00000374160;ENST00000298124	T;T	0.52526	0.66;0.66	5.91	2.01	0.26516	.	0.320586	0.30374	N	0.009773	T	0.48187	0.1486	N	0.21508	0.67	0.43480	D	0.995708	D	0.71674	0.998	D	0.69654	0.965	T	0.25847	-1.0120	9	.	.	.	.	10.0855	0.42415	0.2721:0.0:0.7279:0.0	.	47	Q8N456	LRC18_HUMAN	V	47	ENSP00000363275:L47V;ENSP00000298124:L47V	.	L	-	1	2	LRRC18	49792068	1.000000	0.71417	0.021000	0.16686	0.489000	0.33432	1.729000	0.38115	0.116000	0.18110	0.650000	0.86243	CTG		0.507	LRRC18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047964.1	NM_001006939		28	144	0	0	0	1	0	28	144				
TIAM1	7074	broad.mit.edu	37	21	32493110	32493110	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr21:32493110G>A	ENST00000286827.3	-	29	4823	c.4352C>T	c.(4351-4353)gCt>gTt	p.A1451V	TIAM1_ENST00000541036.1_Missense_Mutation_p.A1391V	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1451					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A1451G(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CCTGTTTCGAGCCAGCCGCCG	0.547																																						ENST00000286827.3																			2	Substitution - Missense(2)	p.A1451G(2)	prostate(2)	autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						c.(4351-4353)gCt>gTt		T-cell lymphoma invasion and metastasis 1							26.0	30.0	28.0					21																	32493110		2198	4293	6491	SO:0001583	missense	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32493110G>A		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.4352C>T	21.37:g.32493110G>A	ENSP00000286827:p.Ala1451Val					TIAM1_ENST00000541036.1_Missense_Mutation_p.A1391V	p.A1451V	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN			29	4823	-			1451					B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.4352C>T	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.157203	0.38119	.	.	ENSG00000156299	ENST00000286827;ENST00000541036	T;T	0.39056	1.1;1.1	5.14	4.26	0.50523	.	0.131736	0.51477	D	0.000082	T	0.23014	0.0556	N	0.11106	0.095	0.35805	D	0.823408	B;B	0.14012	0.009;0.005	B;B	0.09377	0.004;0.003	T	0.14587	-1.0467	10	0.32370	T	0.25	.	10.0808	0.42388	0.1536:0.0:0.8464:0.0	.	1391;1451	F5GZ53;Q13009	.;TIAM1_HUMAN	V	1451;1391	ENSP00000286827:A1451V;ENSP00000441570:A1391V	ENSP00000286827:A1451V	A	-	2	0	TIAM1	31414981	1.000000	0.71417	0.962000	0.40283	0.999000	0.98932	6.967000	0.76079	1.150000	0.42419	0.655000	0.94253	GCT		0.547	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		14	63	0	0	0	1	0	14	63				
LRRIQ4	344657	broad.mit.edu	37	3	169540297	169540297	+	Silent	SNP	C	C	T			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr3:169540297C>T	ENST00000340806.6	+	1	588	c.588C>T	c.(586-588)gaC>gaT	p.D196D		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	196								p.D196D(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TTGACCTGGACGAGAACAAAA	0.517																																						ENST00000340806.6																			1	Substitution - coding silent(1)	p.D196D(1)	endometrium(1)	breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						c.(586-588)gaC>gaT		leucine-rich repeats and IQ motif containing 4							88.0	90.0	89.0					3																	169540297		1867	4104	5971	SO:0001819	synonymous_variant	344657							g.chr3:169540297C>T		CCDS46951.1	3q26.2	2008-08-08	2008-06-12	2008-06-12	ENSG00000188306	ENSG00000188306			34298	protein-coding gene	gene with protein product	"""leucine rich repeat containing 64"""						Standard	NM_001080460		Approved	LRRC64	uc003fgb.3	A6NIV6	OTTHUMG00000164420	ENST00000340806.6:c.588C>T	3.37:g.169540297C>T							p.D196D	NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN			1	588	+			196						Silent	SNP	ENST00000340806.6	37	c.588C>T	CCDS46951.1																																																																																				0.517	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378698.1	NM_001080460		47	114	0	0	0	1	0	47	114				
PKD1	5310	broad.mit.edu	37	16	2159762	2159762	+	Silent	SNP	C	C	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr16:2159762C>G	ENST00000262304.4	-	15	5614	c.5406G>C	c.(5404-5406)gtG>gtC	p.V1802V	PKD1_ENST00000423118.1_Silent_p.V1802V|RP11-304L19.4_ENST00000568795.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1802	PKD 13. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TGAGGCCACTCACAGGCACCT	0.667																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(5404-5406)gtG>gtC		polycystic kidney disease 1 (autosomal dominant)							14.0	14.0	14.0					16																	2159762		2170	4282	6452	SO:0001819	synonymous_variant	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2159762C>G	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.5406G>C	16.37:g.2159762C>G						PKD1_ENST00000423118.1_Silent_p.V1802V	p.V1802V	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			15	5614	-			1802			PKD 13.		Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	c.5406G>C	CCDS32369.1																																																																																				0.667	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			9	20	0	0	0	1	0	9	20				
CCDC73	493860	broad.mit.edu	37	11	32635985	32635985	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr11:32635985C>T	ENST00000335185.5	-	16	1922	c.1879G>A	c.(1879-1881)Gca>Aca	p.A627T	CCDC73_ENST00000534415.1_5'Flank	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	627										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TCCAAATCTGCTTTGGTTTGG	0.343																																						ENST00000335185.5																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51						c.(1879-1881)Gca>Aca		coiled-coil domain containing 73							76.0	68.0	71.0					11																	32635985		1812	4080	5892	SO:0001583	missense	493860							g.chr11:32635985C>T	AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.1879G>A	11.37:g.32635985C>T	ENSP00000335325:p.Ala627Thr						p.A627T	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN			16	1922	-	Breast(20;0.112)		627					Q6P5Q7|Q6ZMW0|Q86WE7	Missense_Mutation	SNP	ENST00000335185.5	37	c.1879G>A	CCDS41630.1	.	.	.	.	.	.	.	.	.	.	C	6.649	0.488282	0.12641	.	.	ENSG00000186714	ENST00000335185	.	.	.	4.89	1.85	0.25348	.	0.452208	0.22605	N	0.057920	T	0.18923	0.0454	N	0.21448	0.665	0.09310	N	1	B	0.29646	0.253	B	0.26202	0.067	T	0.11743	-1.0575	9	0.39692	T	0.17	.	3.5389	0.07804	0.2012:0.4591:0.2543:0.0854	.	627	Q6ZRK6	CCD73_HUMAN	T	627	.	ENSP00000335325:A627T	A	-	1	0	CCDC73	32592561	0.000000	0.05858	0.320000	0.25306	0.436000	0.31835	-0.525000	0.06214	0.167000	0.19631	0.591000	0.81541	GCA		0.343	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	NM_001008391		4	154	0	0	0	1	0	4	154				
PCBP4	57060	broad.mit.edu	37	3	51992879	51992879	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr3:51992879C>G	ENST00000461554.1	-	13	1181	c.850G>C	c.(850-852)Gct>Cct	p.A284P	PCBP4_ENST00000471622.1_Missense_Mutation_p.A284P|PCBP4_ENST00000322099.7_Missense_Mutation_p.A284P|PCBP4_ENST00000484633.1_Missense_Mutation_p.A241P|PCBP4_ENST00000395013.3_Missense_Mutation_p.A124P|PCBP4_ENST00000428823.2_Missense_Mutation_p.A241P|RP11-155D18.12_ENST00000488257.1_RNA|PCBP4_ENST00000395014.2_Missense_Mutation_p.A305P|PCBP4_ENST00000355852.2_Missense_Mutation_p.A284P	NM_001174100.1	NP_001167571.1	P57723	PCBP4_HUMAN	poly(rC) binding protein 4	284	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.					cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1)	8				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CGCTCCCCAGCGCCCTCTGCT	0.637																																						ENST00000461554.1																			0				endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1)	8						c.(850-852)Gct>Cct		poly(rC) binding protein 4							114.0	105.0	108.0					3																	51992879		2203	4300	6503	SO:0001583	missense	57060					cytoplasm|ribonucleoprotein complex	DNA binding|RNA binding	g.chr3:51992879C>G	AF176330	CCDS2839.1, CCDS2840.1, CCDS2840.2	3p21	2013-07-16	2001-11-28		ENSG00000090097	ENSG00000090097			8652	protein-coding gene	gene with protein product	"""RNA binding protein MCG10"", ""LYST-interacting protein"", ""alphaCP-4 protein"""	608503	"""poly(rC)-binding protein 4"""			10936052	Standard	NM_033008		Approved	MCG10, LIP4	uc003dch.2	P57723	OTTHUMG00000157366	ENST00000461554.1:c.850G>C	3.37:g.51992879C>G	ENSP00000417196:p.Ala284Pro					PCBP4_ENST00000395014.2_Missense_Mutation_p.A305P|PCBP4_ENST00000484633.1_Missense_Mutation_p.A241P|PCBP4_ENST00000322099.7_Missense_Mutation_p.A284P|PCBP4_ENST00000471622.1_Missense_Mutation_p.A284P|PCBP4_ENST00000355852.2_Missense_Mutation_p.A284P|PCBP4_ENST00000395013.3_Missense_Mutation_p.A124P|PCBP4_ENST00000428823.2_Missense_Mutation_p.A241P	p.A284P	NM_001174100.1	NP_001167571.1	P57723	PCBP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	13	1181	-			284			KH 3.		Q96AH7	Missense_Mutation	SNP	ENST00000461554.1	37	c.850G>C	CCDS2839.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.305127	0.60305	.	.	ENSG00000090097	ENST00000355852;ENST00000322099;ENST00000461554;ENST00000484633;ENST00000395013;ENST00000428823;ENST00000395014;ENST00000471622;ENST00000294192	T;T;T;T;T;T;T;T	0.31769	1.54;1.54;1.54;1.52;1.5;1.52;1.48;1.95	5.12	3.05	0.35203	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.130859	0.52532	D	0.000067	T	0.25121	0.0610	N	0.16903	0.455	0.42398	D	0.992551	B;B;B;B;D;B	0.55172	0.038;0.107;0.24;0.13;0.97;0.011	B;B;B;B;P;B	0.50970	0.04;0.156;0.221;0.242;0.655;0.02	T	0.02226	-1.1192	10	0.27082	T	0.32	-10.8355	11.1248	0.48310	0.6183:0.3817:0.0:0.0	.	284;241;124;284;305;250	C9J0A4;P57723-2;B3KM64;P57723;Q9GZT1;Q9HCU2	.;.;.;PCBP4_HUMAN;.;.	P	284;284;284;241;124;241;305;284;284	ENSP00000348111:A284P;ENSP00000322341:A284P;ENSP00000417196:A284P;ENSP00000417100:A241P;ENSP00000378460:A124P;ENSP00000395030:A241P;ENSP00000378461:A305P;ENSP00000418925:A284P	ENSP00000294192:A284P	A	-	1	0	PCBP4	51967919	0.419000	0.25449	0.710000	0.30468	0.974000	0.67602	0.932000	0.28884	1.079000	0.41038	0.462000	0.41574	GCT		0.637	PCBP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348597.1	NM_020418		18	123	0	0	0	1	0	18	123				
KRT36	8689	broad.mit.edu	37	17	39646040	39646040	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr17:39646040G>C	ENST00000328119.6	-	1	76	c.77C>G	c.(76-78)tCt>tGt	p.S26C	KRT36_ENST00000393986.2_Intron	NM_003771.4	NP_003762.1	O76013	KRT36_HUMAN	keratin 36	26	Head.				regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of epidermis (GO:0030280)			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				GGACACCCGAGAGATGCCGCC	0.627																																						ENST00000328119.6																			0				breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17						c.(76-78)tCt>tGt		keratin 36							43.0	46.0	45.0					17																	39646040		2203	4300	6503	SO:0001583	missense	8689					intermediate filament	protein binding|structural constituent of epidermis	g.chr17:39646040G>C	Y16792	CCDS11395.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000126337	ENSG00000126337		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6454	protein-coding gene	gene with protein product		604540	"""keratin, hair, acidic, 6"""	KRTHA6		9756910, 16831889	Standard	XM_005257762		Approved		uc002hwt.3	O76013	OTTHUMG00000133431	ENST00000328119.6:c.77C>G	17.37:g.39646040G>C	ENSP00000329165:p.Ser26Cys					KRT36_ENST00000393986.2_Intron	p.S26C	NM_003771.4	NP_003762.1	O76013	KRT36_HUMAN			1	76	-		Breast(137;0.000286)	26			Head.		Q86XG4	Missense_Mutation	SNP	ENST00000328119.6	37	c.77C>G	CCDS11395.1	.	.	.	.	.	.	.	.	.	.	G	6.367	0.435817	0.12104	.	.	ENSG00000126337	ENST00000328119	D	0.82255	-1.59	5.43	4.45	0.53987	.	0.156736	0.29653	N	0.011548	T	0.79592	0.4472	L	0.55481	1.735	0.09310	N	1	B	0.11235	0.004	B	0.12156	0.007	T	0.65319	-0.6197	9	.	.	.	.	15.5896	0.76517	0.0:0.3908:0.6092:0.0	.	26	O76013	KRT36_HUMAN	C	26	ENSP00000329165:S26C	.	S	-	2	0	KRT36	36899566	0.984000	0.35163	0.908000	0.35775	0.406000	0.30931	3.386000	0.52492	1.276000	0.44395	0.563000	0.77884	TCT		0.627	KRT36-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259508.1	NM_003771		12	85	0	0	0	1	0	12	85				
ZAN	7455	broad.mit.edu	37	7	100334235	100334235	+	RNA	SNP	G	G	A			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr7:100334235G>A	ENST00000348028.3	+	0	401				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GGGGCCCCCGGGGGGTACCCT	0.662																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							42.0	41.0	41.0					7																	100334235		1767	3858	5625			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100334235G>A	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100334235G>A						ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	384	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	G	14.84	2.654115	0.47362	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.02085	4.46;4.46;4.46	4.55	4.55	0.56014	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.000000	0.33477	N	0.004863	T	0.12050	0.0293	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.00111	-1.2045	10	0.72032	D	0.01	.	13.546	0.61705	0.0:0.0:1.0:0.0	.	79;79	F5H0T8;Q9Y493	.;ZAN_HUMAN	E	79	ENSP00000445943:G79E;ENSP00000445091:G79E;ENSP00000444427:G79E	ENSP00000423579:G79E	G	+	2	0	ZAN	100172171	0.998000	0.40836	0.918000	0.36340	0.077000	0.17291	2.800000	0.47900	2.470000	0.83445	0.561000	0.74099	GGG		0.662	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		71	19	0	0	0	1	0	71	19				
MBOAT2	129642	broad.mit.edu	37	2	8998901	8998901	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr2:8998901T>A	ENST00000305997.3	-	13	1669	c.1471A>T	c.(1471-1473)Aat>Tat	p.N491Y	MBOAT2_ENST00000486484.1_5'Flank	NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN	membrane bound O-acyltransferase domain containing 2	491					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)		MBOAT2/PRKCE(2)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCCAAAGAATTTTCTCCTTCA	0.348																																					Ovarian(194;1699 3813 22401)	ENST00000305997.3																		MBOAT2/PRKCE(2)	0				endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15						c.(1471-1473)Aat>Tat		membrane bound O-acyltransferase domain containing 2							92.0	97.0	95.0					2																	8998901		2202	4299	6501	SO:0001583	missense	129642				phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr2:8998901T>A	BC016005	CCDS1660.1	2p25	2008-02-05	2006-06-29	2006-06-29	ENSG00000143797	ENSG00000143797			25193	protein-coding gene	gene with protein product		611949	"""O-acyltransferase (membrane bound) domain containing 2"""	OACT2			Standard	NM_138799		Approved	FLJ14415, FLJ90298	uc002qzg.1	Q6ZWT7	OTTHUMG00000090363	ENST00000305997.3:c.1471A>T	2.37:g.8998901T>A	ENSP00000302177:p.Asn491Tyr						p.N491Y	NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN			13	1669	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		491					A9EDR2|Q8NCE7|Q96KY4	Missense_Mutation	SNP	ENST00000305997.3	37	c.1471A>T	CCDS1660.1	.	.	.	.	.	.	.	.	.	.	T	14.26	2.480946	0.44044	.	.	ENSG00000143797	ENST00000305997	T	0.10477	2.87	5.69	3.28	0.37604	.	2.967120	0.00939	N	0.002807	T	0.20861	0.0502	L	0.47716	1.5	0.22050	N	0.999398	P	0.49447	0.924	P	0.48030	0.564	T	0.42155	-0.9468	10	0.62326	D	0.03	-7.1005	12.8077	0.57622	0.0:0.0:0.2582:0.7418	.	491	Q6ZWT7	MBOA2_HUMAN	Y	491	ENSP00000302177:N491Y	ENSP00000302177:N491Y	N	-	1	0	MBOAT2	8916352	0.426000	0.25506	0.103000	0.21229	0.516000	0.34256	1.890000	0.39728	0.412000	0.25729	-0.291000	0.09656	AAT		0.348	MBOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206735.1	NM_138799		59	85	0	0	0	1	0	59	85				
TBR1	10716	broad.mit.edu	37	2	162279930	162279930	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr2:162279930C>G	ENST00000389554.3	+	6	1558	c.1241C>G	c.(1240-1242)tCg>tGg	p.S414W	AC009487.5_ENST00000505579.1_RNA|TBR1_ENST00000410035.1_Missense_Mutation_p.S127W|AC009487.4_ENST00000437683.1_RNA|TBR1_ENST00000489530.1_3'UTR|AC009487.4_ENST00000444164.1_RNA	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	414					axon guidance (GO:0007411)|brain development (GO:0007420)|hindbrain development (GO:0030902)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of neuron projection development (GO:0010975)|specification of organ identity (GO:0010092)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						CCCAACGACTCGCCGCGCTCG	0.687																																						ENST00000389554.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						c.(1240-1242)tCg>tGg		T-box, brain, 1							24.0	27.0	26.0					2																	162279930		1912	3944	5856	SO:0001583	missense	10716					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:162279930C>G	U49250	CCDS33310.1	2q24.2	2011-06-13			ENSG00000136535	ENSG00000136535		"""T-boxes"""	11590	protein-coding gene	gene with protein product		604616				7619531	Standard	NM_006593		Approved		uc002ubw.1	Q16650	OTTHUMG00000153888	ENST00000389554.3:c.1241C>G	2.37:g.162279930C>G	ENSP00000374205:p.Ser414Trp					TBR1_ENST00000489530.1_3'UTR|TBR1_ENST00000410035.1_Missense_Mutation_p.S127W|AC009487.4_ENST00000437683.1_RNA	p.S414W	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN			6	1558	+			414					B0AZS4|B2R6G5|Q14DC5|Q53TH0|Q56A81	Missense_Mutation	SNP	ENST00000389554.3	37	c.1241C>G	CCDS33310.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.517654	0.85495	.	.	ENSG00000136535	ENST00000389554;ENST00000411412;ENST00000410035	D;D;D	0.89050	-2.46;-1.63;-1.78	3.67	3.67	0.42095	.	0.299857	0.31747	U	0.007140	D	0.89897	0.6848	M	0.78049	2.395	0.80722	D	1	P	0.44309	0.832	B	0.44163	0.443	D	0.91094	0.4909	10	0.49607	T	0.09	.	15.6293	0.76888	0.0:1.0:0.0:0.0	.	414	Q16650	TBR1_HUMAN	W	414;149;127	ENSP00000374205:S414W;ENSP00000393934:S149W;ENSP00000387023:S127W	ENSP00000374205:S414W	S	+	2	0	TBR1	161988176	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	7.231000	0.78106	1.913000	0.55393	0.306000	0.20318	TCG		0.687	TBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332845.1	NM_006593		7	68	0	0	0	1	0	7	68				
LRRC37A4P	55073	broad.mit.edu	37	17	43587730	43587730	+	RNA	SNP	A	A	C			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr17:43587730A>C	ENST00000579913.1	-	0	1394				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		GTATTGATTCATTTTATTCAT	0.343																																						ENST00000253803.2																			0																																																			0							g.chr17:43587730A>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587730A>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.343	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		3	87	0	0	0	1	0	3	87				
GINS4	84296	broad.mit.edu	37	8	41397213	41397213	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr8:41397213C>T	ENST00000276533.3	+	5	524	c.314C>T	c.(313-315)cCt>cTt	p.P105L	GINS4_ENST00000523277.2_Missense_Mutation_p.P105L|GINS4_ENST00000518671.1_Missense_Mutation_p.P105L|RP11-360L9.7_ENST00000578500.1_RNA|RP11-360L9.4_ENST00000523081.1_RNA|RP11-360L9.7_ENST00000524133.1_RNA	NM_032336.2	NP_115712.1	Q9BRT9	SLD5_HUMAN	GINS complex subunit 4 (Sld5 homolog)	105					DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)				breast(1)|lung(2)|skin(1)	4	Ovarian(28;0.014)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.00732)|Lung NSC(58;0.0207)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00329)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)			AAGTTTTTCCCTCATGTCCTT	0.458																																						ENST00000523277.2																			0				breast(1)|lung(2)|skin(1)	4						c.(313-315)cCt>cTt		GINS complex subunit 4 (Sld5 homolog)							93.0	97.0	96.0					8																	41397213		2203	4300	6503	SO:0001583	missense	84296				DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm		g.chr8:41397213C>T	BC005995	CCDS6116.1	8p11.21	2006-05-04			ENSG00000147536	ENSG00000147536			28226	protein-coding gene	gene with protein product		610611				12477932	Standard	NM_032336		Approved	MGC14799, SLD5	uc003xnx.3	Q9BRT9	OTTHUMG00000164079	ENST00000276533.3:c.314C>T	8.37:g.41397213C>T	ENSP00000276533:p.Pro105Leu					RP11-360L9.4_ENST00000523081.1_RNA|GINS4_ENST00000276533.3_Missense_Mutation_p.P105L|GINS4_ENST00000518671.1_Missense_Mutation_p.P105L	p.P105L			Q9BRT9	SLD5_HUMAN	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00329)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)		5	481	+	Ovarian(28;0.014)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.00732)|Lung NSC(58;0.0207)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	105					B2R8H5|D3DSY0|Q8N648	Missense_Mutation	SNP	ENST00000276533.3	37	c.314C>T	CCDS6116.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.190620	0.58017	.	.	ENSG00000147536	ENST00000276533;ENST00000518671;ENST00000523277	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.46983	0.1421	N	0.19112	0.55	0.80722	D	1	D	0.55800	0.973	P	0.49301	0.606	T	0.22626	-1.0211	9	0.10111	T	0.7	-13.9826	19.8676	0.96824	0.0:1.0:0.0:0.0	.	105	Q9BRT9	SLD5_HUMAN	L	105	.	ENSP00000276533:P105L	P	+	2	0	GINS4	41516370	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.469000	0.80959	2.941000	0.99782	0.655000	0.94253	CCT		0.458	GINS4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377150.1	NM_032336		86	108	0	0	0	1	0	86	108				
CELSR2	1952	broad.mit.edu	37	1	109792762	109792762	+	Silent	SNP	T	T	C			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr1:109792762T>C	ENST00000271332.3	+	1	122	c.61T>C	c.(61-63)Ttg>Ctg	p.L21L		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	21					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		gctgctgctgttgctgctgct	0.746																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(61-63)Ttg>Ctg		cadherin, EGF LAG seven-pass G-type receptor 2							9.0	11.0	11.0					1																	109792762		1973	3925	5898	SO:0001819	synonymous_variant	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109792762T>C	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.61T>C	1.37:g.109792762T>C							p.L21L	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	122	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	21					Q5T2Y7|Q92566	Silent	SNP	ENST00000271332.3	37	c.61T>C	CCDS796.1																																																																																				0.746	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		3	25	0	0	0	1	0	3	25				
TRIM33	51592	broad.mit.edu	37	1	114964058	114964058	+	Splice_Site	SNP	C	C	A			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr1:114964058C>A	ENST00000358465.2	-	11	2144	c.2061G>T	c.(2059-2061)caG>caT	p.Q687H	TRIM33_ENST00000450349.2_Splice_Site_p.Q295H|TRIM33_ENST00000369543.2_Splice_Site_p.Q687H	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	687					gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAATACAAACCTGTATGGGTG	0.378			T	RET	papillary thyroid																																	ENST00000358465.2				Dom	yes		1	1p13	51592	T	""" tripartite motif-containing 33 (PTC7,TIF1G)"""			E	RET		papillary thyroid		0				breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48						c.e11+1		tripartite motif containing 33							135.0	137.0	136.0					1																	114964058		2203	4300	6503	SO:0001630	splice_region_variant	51592				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding	g.chr1:114964058C>A	AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"", ""RING-type (C3HC4) zinc fingers"""	16290	protein-coding gene	gene with protein product	"""transcriptional intermediary factor 1 gamma"", ""ret-fused gene 7"""	605769	"""tripartite motif-containing 33"""			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.2061+1G>T	1.37:g.114964058C>A						TRIM33_ENST00000369543.2_Splice_Site_p.Q687_splice|TRIM33_ENST00000450349.2_Splice_Site_p.Q295_splice	p.Q687_splice	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	11	2144	-	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	687					O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Splice_Site	SNP	ENST00000358465.2	37	c.2061_splice	CCDS872.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.3|28.3	4.909874|4.909874	0.92107|0.92107	.|.	.|.	ENSG00000197323|ENSG00000197323	ENST00000358465;ENST00000369543;ENST00000450349|ENST00000448034	T;T;T|.	0.56611|.	0.45;0.45;0.45|.	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.60547|0.60547	0.2277|0.2277	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.71674|.	0.996;0.996;0.998;0.996|.	D;D;D;D|.	0.80764|.	0.93;0.953;0.994;0.986|.	T|T	0.52909|0.52909	-0.8512|-0.8512	9|5	.|.	.|.	.|.	-0.7433|-0.7433	20.5827|20.5827	0.99408|0.99408	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	295;295;687;687|.	E7EN20;B3KN30;Q9UPN9-2;Q9UPN9|.	.;.;.;TRI33_HUMAN|.	H|M	687;687;295|424	ENSP00000351250:Q687H;ENSP00000358556:Q687H;ENSP00000412077:Q295H|.	.|.	Q|R	-|-	3|2	2|0	TRIM33|TRIM33	114765581|114765581	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.273000|7.273000	0.78527|0.78527	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CAG|AGG		0.378	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906	Missense_Mutation	65	60	1	0	1.33661e-31	1	1.41734e-31	65	60				
TNFSF14	8740	broad.mit.edu	37	19	6664977	6664977	+	Missense_Mutation	SNP	C	C	T	rs377428053		TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr19:6664977C>T	ENST00000599359.1	-	5	1064	c.683G>A	c.(682-684)cGt>cAt	p.R228H	TNFSF14_ENST00000245912.3_Missense_Mutation_p.R192H|TNFSF14_ENST00000326176.9_Missense_Mutation_p.R192H			O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	228					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of T cell chemotaxis (GO:0010820)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|receptor binding (GO:0005102)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						GGTACCATCACGCAGTCGAAC	0.602																																						ENST00000326176.9																			0				breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						c.(574-576)cGt>cAt		tumor necrosis factor (ligand) superfamily, member 14		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	197.0	164.0	175.0		683,575	-0.6	0.0	19		175	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	TNFSF14	NM_003807.3,NM_172014.2	29,29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign	228/241,192/205	6664977	2,13004	2203	4300	6503	SO:0001583	missense	0				cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding	g.chr19:6664977C>T	AF036581	CCDS12171.1, CCDS45939.1	19p13.3	2008-02-05				ENSG00000125735		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11930	protein-coding gene	gene with protein product		604520				9462508	Standard	NM_172014		Approved	LIGHT, LTg, HVEM-L, CD258	uc002mfk.2	O43557		ENST00000599359.1:c.683G>A	19.37:g.6664977C>T	ENSP00000469049:p.Arg228His					TNFSF14_ENST00000599359.1_Missense_Mutation_p.R228H|TNFSF14_ENST00000245912.3_Missense_Mutation_p.R192H	p.R192H	NM_003807.3|NM_172014.2	NP_003798.2|NP_742011.2	O43557	TNF14_HUMAN			5	956	-			228					A8K7M2|C9J5H4|O75476|Q6FHA1|Q8WVF8|Q96LD2	Missense_Mutation	SNP	ENST00000599359.1	37	c.575G>A	CCDS12171.1	.	.	.	.	.	.	.	.	.	.	C	5.834	0.338165	0.11069	0.0	2.33E-4	ENSG00000125735	ENST00000245912;ENST00000326176	D	0.94828	-3.53	4.46	-0.591	0.11675	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	1.487500	0.03912	N	0.282081	D	0.88551	0.6467	N	0.16478	0.41	0.09310	N	1	B;B	0.13594	0.008;0.006	B;B	0.06405	0.002;0.001	T	0.77755	-0.2469	10	0.42905	T	0.14	-8.0554	8.0512	0.30579	0.0:0.4374:0.0:0.5626	.	228;192	O43557;O43557-2	TNF14_HUMAN;.	H	228;192	ENSP00000326940:R192H	ENSP00000245912:R228H	R	-	2	0	TNFSF14	6615977	0.000000	0.05858	0.001000	0.08648	0.031000	0.12232	0.419000	0.21247	0.044000	0.15775	0.561000	0.74099	CGT		0.602	TNFSF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457863.1			40	125	0	0	0	1	0	40	125				
CXCL1	2919	broad.mit.edu	37	4	74735501	74735501	+	Silent	SNP	C	C	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr4:74735501C>G	ENST00000395761.3	+	2	283	c.216C>G	c.(214-216)acC>acG	p.T72T	CXCL1_ENST00000509101.1_3'UTR	NM_001511.3	NP_001502.1	P09341	GROA_HUMAN	chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha)	72					actin cytoskeleton organization (GO:0030036)|cell chemotaxis (GO:0060326)|cell proliferation (GO:0008283)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|positive regulation of catalytic activity (GO:0043085)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|enzyme activator activity (GO:0008047)|receptor binding (GO:0005102)			lung(2)	2	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			GCGCCCAAACCGAAGTCATGT	0.652																																						ENST00000395761.3																			0				lung(2)	2						c.(214-216)acC>acG		chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha)							79.0	97.0	91.0					4																	74735501		2203	4300	6503	SO:0001819	synonymous_variant	2919				actin cytoskeleton organization|cell proliferation|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|intracellular signal transduction|negative regulation of cell proliferation|nervous system development	extracellular space|intracellular	chemokine activity|enzyme activator activity|growth factor activity	g.chr4:74735501C>G	J03561	CCDS47074.1	4q13.3	2013-02-25	2002-08-22	2002-08-23		ENSG00000163739		"""Endogenous ligands"""	4602	protein-coding gene	gene with protein product		155730	"""GRO1 oncogene (melanoma growth stimulating activity, alpha)"", ""fibroblast secretory protein"""	MGSA, GRO1, FSP		2217207	Standard	NM_001511		Approved	SCYB1, GROa, MGSA-a, NAP-3	uc003hhh.3	P09341		ENST00000395761.3:c.216C>G	4.37:g.74735501C>G						CXCL1_ENST00000509101.1_3'UTR	p.T72T	NM_001511.3	NP_001502.1	P09341	GROA_HUMAN	all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)		2	283	+	Breast(15;0.00102)		72					Q9UCR7	Silent	SNP	ENST00000395761.3	37	c.216C>G	CCDS47074.1																																																																																				0.652	CXCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362734.1			26	175	0	0	0	1	0	26	175				
TSPAN12	23554	broad.mit.edu	37	7	120478922	120478922	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr7:120478922G>A	ENST00000222747.3	-	4	801	c.194C>T	c.(193-195)cCg>cTg	p.P65L	TSPAN12_ENST00000415871.1_Missense_Mutation_p.P65L	NM_012338.3	NP_036470.1	O95859	TSN12_HUMAN	tetraspanin 12	65					angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|regulation of angiogenesis (GO:0045765)|retina layer formation (GO:0010842)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)		p.P65Q(1)		endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10	all_neural(327;0.117)					AATCATGACCGGATGAACCAC	0.373																																						ENST00000222747.3																			1	Substitution - Missense(1)	p.P65Q(1)	lung(1)	endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10						c.(193-195)cCg>cTg		tetraspanin 12							162.0	153.0	156.0					7																	120478922		2203	4300	6503	SO:0001583	missense	23554				angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction		g.chr7:120478922G>A	AF124522	CCDS5777.1	7q31.31	2013-02-14	2005-03-21	2005-03-21	ENSG00000106025	ENSG00000106025		"""Tetraspanins"""	21641	protein-coding gene	gene with protein product		613138	"""transmembrane 4 superfamily member 12"""	TM4SF12			Standard	NM_012338		Approved	NET-2	uc003vjk.3	O95859	OTTHUMG00000156980	ENST00000222747.3:c.194C>T	7.37:g.120478922G>A	ENSP00000222747:p.Pro65Leu					TSPAN12_ENST00000415871.1_Missense_Mutation_p.P65L	p.P65L	NM_012338.3	NP_036470.1	O95859	TSN12_HUMAN			4	801	-	all_neural(327;0.117)		65					A4D0V8|B4DRG6|Q549U9|Q8N5Y0	Missense_Mutation	SNP	ENST00000222747.3	37	c.194C>T	CCDS5777.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.127309	0.77549	.	.	ENSG00000106025	ENST00000222747;ENST00000415871;ENST00000441017;ENST00000433758;ENST00000424710;ENST00000430985	T;T;T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96;-0.96;-0.96	5.99	5.99	0.97316	.	0.052782	0.85682	D	0.000000	T	0.70500	0.3231	L	0.45581	1.43	0.80722	D	1	B	0.32829	0.386	B	0.32465	0.146	T	0.65047	-0.6263	10	0.21540	T	0.41	-14.5881	20.5371	0.99232	0.0:0.0:1.0:0.0	.	65	O95859	TSN12_HUMAN	L	65	ENSP00000222747:P65L;ENSP00000397699:P65L;ENSP00000411158:P65L;ENSP00000399059:P65L;ENSP00000404942:P65L;ENSP00000388819:P65L	ENSP00000222747:P65L	P	-	2	0	TSPAN12	120266158	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.398000	0.90195	2.857000	0.98124	0.650000	0.86243	CCG		0.373	TSPAN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346951.1	NM_012338		4	324	0	0	0	1	0	4	324				
HTR5A	3361	broad.mit.edu	37	7	154862767	154862767	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr7:154862767C>T	ENST00000287907.2	+	1	734	c.158C>T	c.(157-159)gCg>gTg	p.A53V	HTR5A-AS1_ENST00000395731.2_Missense_Mutation_p.A83T|HTR5A-AS1_ENST00000543018.1_Missense_Mutation_p.A83T|HTR5A-AS1_ENST00000493904.1_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	53					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	CTGGTGGCGGCGACGTTCGCC	0.642																																						ENST00000287907.2																			0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48						c.(157-159)gCg>gTg		5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled							94.0	73.0	80.0					7																	154862767		2203	4300	6503	SO:0001583	missense	3361					integral to plasma membrane	serotonin receptor activity	g.chr7:154862767C>T		CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5300	protein-coding gene	gene with protein product		601305	"""5-hydroxytryptamine (serotonin) receptor 5A"""			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.158C>T	7.37:g.154862767C>T	ENSP00000287907:p.Ala53Val					AC093726.4_ENST00000395731.2_Missense_Mutation_p.A83T|AC093726.4_ENST00000493904.1_5'UTR|AC093726.4_ENST00000543018.1_Missense_Mutation_p.A83T	p.A53V	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	1	734	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	53					Q2M2D2	Missense_Mutation	SNP	ENST00000287907.2	37	c.158C>T	CCDS5936.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.313315|5.313315	0.95655|0.95655	.|.	.|.	ENSG00000220575|ENSG00000157219	ENST00000395731;ENST00000543018|ENST00000287907	.|T	.|0.32272	.|1.46	4.44|4.44	4.44|4.44	0.53790|0.53790	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.31638|0.31638	0.0803|0.0803	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	D|D	0.89917|0.89917	1.0|1.0	D|D	0.87578|0.64595	0.998|0.927	T|T	0.17228|0.17228	-1.0376|-1.0376	9|10	0.87932|0.15952	D|T	0|0.53	.|.	17.2701|17.2701	0.87098|0.87098	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	83|53	B7Z8E6|P47898	.|5HT5A_HUMAN	T|V	83|53	.|ENSP00000287907:A53V	ENSP00000379080:A83T|ENSP00000287907:A53V	A|A	-|+	1|2	0|0	AC093726.4|HTR5A	154493700|154493700	1.000000|1.000000	0.71417|0.71417	0.930000|0.930000	0.37139|0.37139	0.949000|0.949000	0.60115|0.60115	7.246000|7.246000	0.78247|0.78247	2.309000|2.309000	0.77851|0.77851	0.467000|0.467000	0.42956|0.42956	GCC|GCG		0.642	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		8	80	0	0	0	1	0	8	80				
LRRC36	55282	broad.mit.edu	37	16	67401214	67401214	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr16:67401214G>A	ENST00000329956.6	+	8	1068	c.1049G>A	c.(1048-1050)aGg>aAg	p.R350K	LRRC36_ENST00000290940.7_Missense_Mutation_p.R82K|LRRC36_ENST00000563189.1_Missense_Mutation_p.R229K|LRRC36_ENST00000435835.3_Missense_Mutation_p.R229K|LRRC36_ENST00000541146.1_Intron	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	350										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		CTTGGTAAAAGGCCTCAGAGA	0.408																																						ENST00000329956.6																			0				endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24						c.(1048-1050)aGg>aAg		leucine rich repeat containing 36							181.0	185.0	184.0					16																	67401214		2198	4300	6498	SO:0001583	missense	55282							g.chr16:67401214G>A	BC026156	CCDS32467.1, CCDS58474.1	16q22.1	2008-02-05				ENSG00000159708			25615	protein-coding gene	gene with protein product						12477932	Standard	NM_001161575		Approved	FLJ11004	uc002esv.3	Q1X8D7		ENST00000329956.6:c.1049G>A	16.37:g.67401214G>A	ENSP00000329943:p.Arg350Lys					LRRC36_ENST00000290940.7_Missense_Mutation_p.R82K|LRRC36_ENST00000541146.1_Intron|LRRC36_ENST00000563189.1_Missense_Mutation_p.R229K|LRRC36_ENST00000435835.3_Missense_Mutation_p.R229K	p.R350K	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)	8	1068	+		Ovarian(137;0.192)	350					A4FTV6|A6NDE9|A8K8E6|Q7Z5K5	Missense_Mutation	SNP	ENST00000329956.6	37	c.1049G>A	CCDS32467.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.148504	0.37923	.	.	ENSG00000159708	ENST00000329956;ENST00000290940;ENST00000435835	T;T;T	0.48836	3.11;0.8;1.39	6.17	1.66	0.24008	.	0.612512	0.17516	N	0.171423	T	0.28632	0.0709	L	0.29908	0.895	0.80722	D	1	B;B;B	0.16603	0.009;0.009;0.018	B;B;B	0.18561	0.022;0.013;0.005	T	0.08207	-1.0733	10	0.26408	T	0.33	-5.5187	3.522	0.07745	0.2781:0.0:0.5441:0.1778	.	229;229;350	B7Z7B3;Q1X8D7-2;Q1X8D7	.;.;LRC36_HUMAN	K	350;82;229	ENSP00000329943:R350K;ENSP00000290940:R82K;ENSP00000411122:R229K	ENSP00000290940:R82K	R	+	2	0	LRRC36	65958715	0.866000	0.29940	1.000000	0.80357	0.790000	0.44656	0.353000	0.20130	0.939000	0.37446	-0.140000	0.14226	AGG		0.408	LRRC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421770.1	NM_018296		15	356	0	0	0	1	0	15	356				
PCDHB15	56121	broad.mit.edu	37	5	140627084	140627084	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr5:140627084C>G	ENST00000231173.3	+	1	1938	c.1938C>G	c.(1936-1938)gaC>gaG	p.D646E		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	646	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTCAAGGACAATGGCGAGC	0.706																																						ENST00000231173.3																			0				NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61						c.(1936-1938)gaC>gaG									40.0	43.0	42.0					5																	140627084		2176	4274	6450	SO:0001583	missense	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140627084C>G	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.1938C>G	5.37:g.140627084C>G	ENSP00000231173:p.Asp646Glu						p.D646E	NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1938	+			646			Cadherin 6.		Q8IUX5	Missense_Mutation	SNP	ENST00000231173.3	37	c.1938C>G	CCDS4257.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.943714	0.53079	.	.	ENSG00000113248	ENST00000231173	T	0.67865	-0.29	4.11	2.25	0.28309	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.85318	0.5669	H	0.95850	3.73	0.32397	N	0.552419	D	0.76494	0.999	D	0.73380	0.98	D	0.87158	0.2213	9	0.87932	D	0	.	10.2247	0.43218	0.0:0.8214:0.0:0.1786	.	646	Q9Y5E8	PCDBF_HUMAN	E	646	ENSP00000231173:D646E	ENSP00000231173:D646E	D	+	3	2	PCDHB15	140607268	0.886000	0.30341	0.953000	0.39169	0.812000	0.45895	0.055000	0.14229	0.869000	0.35703	0.549000	0.68633	GAC		0.706	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		35	116	0	0	0	1	0	35	116				
TTN	7273	broad.mit.edu	37	2	179453777	179453777	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr2:179453777C>T	ENST00000591111.1	-	254	57976	c.57752G>A	c.(57751-57753)gGt>gAt	p.G19251D	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G11952D|TTN_ENST00000342992.6_Missense_Mutation_p.G18324D|TTN_ENST00000460472.2_Missense_Mutation_p.G11827D|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G12019D|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G20892D|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590932.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19251	Fibronectin type-III 39. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCACAGCCACCATCATCTTC	0.403																																						ENST00000589042.1																			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.(62674-62676)gGt>gAt		titin							50.0	49.0	49.0					2																	179453777		1917	4126	6043	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179453777C>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.57752G>A	2.37:g.179453777C>T	ENSP00000465570:p.Gly19251Asp					TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G11827D|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G11952D|TTN_ENST00000342992.6_Missense_Mutation_p.G18324D|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G12019D|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G19251D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA	p.G20892D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		304	62899	-			19251		T -> N.	Fibronectin type-III 51.		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.62675G>A		.	.	.	.	.	.	.	.	.	.	C	14.40	2.522825	0.44866	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	5.92	5.92	0.95590	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.80303	0.4598	M	0.91510	3.215	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.83499	0.0074	9	0.87932	D	0	.	20.3213	0.98679	0.0:1.0:0.0:0.0	.	11827;11952;12019;19251	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	D	18324;11827;12019;11952;11825	ENSP00000343764:G18324D;ENSP00000434586:G11827D;ENSP00000340554:G12019D;ENSP00000352154:G11952D	ENSP00000340554:G12019D	G	-	2	0	TTN	179162023	1.000000	0.71417	0.670000	0.29842	0.970000	0.65996	7.818000	0.86416	2.810000	0.96702	0.650000	0.86243	GGT		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		11	53	0	0	0	1	0	11	53				
C17orf53	78995	broad.mit.edu	37	17	42225301	42225301	+	Missense_Mutation	SNP	C	C	T	rs147787171	byFrequency	TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr17:42225301C>T	ENST00000319977.4	+	3	367	c.130C>T	c.(130-132)Cct>Tct	p.P44S	C17orf53_ENST00000245382.6_Missense_Mutation_p.P44S|C17orf53_ENST00000585683.1_Missense_Mutation_p.P44S	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	44										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GCGCCTGAGACCTGTCTCTTC	0.567													C|||	2	0.000399361	0.0015	0.0	5008	,	,		18681	0.0		0.0	False		,,,				2504	0.0					ENST00000319977.4																			0				NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22						c.(130-132)Cct>Tct		chromosome 17 open reading frame 53		C	SER/PRO,SER/PRO	4,4402	8.1+/-20.4	0,4,2199	72.0	69.0	70.0		130,130	1.0	0.1	17	dbSNP_134	70	0,8600		0,0,4300	yes	missense,missense	C17orf53	NM_001171251.1,NM_024032.3	74,74	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	probably-damaging,probably-damaging	44/647,44/648	42225301	4,13002	2203	4300	6503	SO:0001583	missense	78995							g.chr17:42225301C>T	AK021656	CCDS11477.1, CCDS59293.1	17q21.31	2012-10-11			ENSG00000125319	ENSG00000125319			28460	protein-coding gene	gene with protein product							Standard	NM_001171251		Approved	MGC3130	uc002ifi.2	Q8N3J3	OTTHUMG00000181808	ENST00000319977.4:c.130C>T	17.37:g.42225301C>T	ENSP00000313500:p.Pro44Ser					C17orf53_ENST00000585683.1_Missense_Mutation_p.P44S|C17orf53_ENST00000245382.6_Missense_Mutation_p.P44S	p.P44S	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	3	367	+		Breast(137;0.0364)|Prostate(33;0.0376)	44					A8K7A9|Q9BWM9|Q9HAI1	Missense_Mutation	SNP	ENST00000319977.4	37	c.130C>T	CCDS11477.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	13.30	2.196424	0.38806	9.08E-4	0.0	ENSG00000125319	ENST00000319977;ENST00000245382;ENST00000253405	T;T	0.46063	0.88;0.88	5.28	0.996	0.19844	.	0.266838	0.31884	N	0.006909	T	0.53190	0.1781	L	0.59436	1.845	0.31237	N	0.695685	D;B;D	0.89917	1.0;0.291;1.0	D;B;D	0.91635	0.999;0.137;0.999	T	0.55509	-0.8130	10	0.87932	D	0	-5.3615	6.5301	0.22322	0.1271:0.6568:0.0:0.2161	.	44;44;44	A8K7A9;Q8N3J3-3;Q8N3J3	.;.;CQ053_HUMAN	S	44	ENSP00000313500:P44S;ENSP00000245382:P44S	ENSP00000245382:P44S	P	+	1	0	C17orf53	39580827	0.096000	0.21769	0.134000	0.22075	0.094000	0.18550	0.475000	0.22164	0.377000	0.24735	-0.314000	0.08810	CCT		0.567	C17orf53-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457697.1	NM_024032		43	98	0	0	0	1	0	43	98				
KCNN2	3781	broad.mit.edu	37	5	113698753	113698753	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr5:113698753G>C	ENST00000512097.3	+	2	1299	c.281G>C	c.(280-282)gGc>gCc	p.G94A	KCNN2_ENST00000264773.3_Missense_Mutation_p.G94A			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	94	Poly-Gly.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	ggaggaggcggcggcggtggc	0.652																																						ENST00000512097.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(280-282)gGc>gCc		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2							21.0	21.0	21.0					5																	113698753		2192	4289	6481	SO:0001583	missense	3781					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr5:113698753G>C	AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.281G>C	5.37:g.113698753G>C	ENSP00000427120:p.Gly94Ala					KCNN2_ENST00000264773.3_Missense_Mutation_p.G94A	p.G94A			Q9H2S1	KCNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	2	1299	+		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)	94			Poly-Gly.		A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Missense_Mutation	SNP	ENST00000512097.3	37	c.281G>C	CCDS4114.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.778708	0.49891	.	.	ENSG00000080709	ENST00000512097;ENST00000264773	D;D	0.98649	-5.05;-5.05	5.17	5.17	0.71159	.	0.272201	0.33110	N	0.005264	D	0.94971	0.8373	N	0.22421	0.69	0.80722	D	1	P	0.35745	0.518	B	0.33454	0.164	D	0.94784	0.7956	10	0.09338	T	0.73	.	13.3805	0.60764	0.0:0.1578:0.8422:0.0	.	94	Q9H2S1	KCNN2_HUMAN	A	94	ENSP00000427120:G94A;ENSP00000264773:G94A	ENSP00000264773:G94A	G	+	2	0	KCNN2	113726652	1.000000	0.71417	0.986000	0.45419	0.883000	0.51084	3.430000	0.52807	2.407000	0.81776	0.655000	0.94253	GGC		0.652	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614		7	28	0	0	0	1	0	7	28				
SLC35F5	80255	broad.mit.edu	37	2	114508047	114508047	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr2:114508047C>T	ENST00000245680.2	-	4	785	c.372G>A	c.(370-372)tgG>tgA	p.W124*	SLC35F5_ENST00000409342.1_Nonsense_Mutation_p.W118*	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	124					transport (GO:0006810)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						ACTGTTGTCTCCATGGCTTCC	0.368																																						ENST00000245680.2																			0				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						c.(370-372)tgG>tgA		solute carrier family 35, member F5							93.0	96.0	95.0					2																	114508047		2203	4300	6503	SO:0001587	stop_gained	80255				transport	integral to membrane		g.chr2:114508047C>T	AF529364	CCDS2119.1	2q14.1	2013-05-22			ENSG00000115084	ENSG00000115084		"""Solute carriers"""	23617	protein-coding gene	gene with protein product							Standard	XM_005263799		Approved	FLJ22004	uc002tku.1	Q8WV83	OTTHUMG00000131361	ENST00000245680.2:c.372G>A	2.37:g.114508047C>T	ENSP00000245680:p.Trp124*					SLC35F5_ENST00000409342.1_Nonsense_Mutation_p.W118*	p.W124*	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN			4	785	-			124					Q9H6P8|Q9H7D8	Nonsense_Mutation	SNP	ENST00000245680.2	37	c.372G>A	CCDS2119.1	.	.	.	.	.	.	.	.	.	.	C	45	11.530766	0.99572	.	.	ENSG00000115084	ENST00000245680;ENST00000409106;ENST00000409342	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.8564	17.7733	0.88500	0.0:1.0:0.0:0.0	.	.	.	.	X	124;118;118	.	ENSP00000245680:W124X	W	-	3	0	SLC35F5	114224517	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.236000	0.78154	2.710000	0.92621	0.655000	0.94253	TGG		0.368	SLC35F5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254150.1	NM_025181		50	67	0	0	0	1	0	50	67				
TRPM8	79054	broad.mit.edu	37	2	234869448	234869448	+	Missense_Mutation	SNP	C	C	T	rs143538093		TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr2:234869448C>T	ENST00000324695.4	+	12	1431	c.1391C>T	c.(1390-1392)aCg>aTg	p.T464M	TRPM8_ENST00000433712.2_Missense_Mutation_p.T152M	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	464					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GTCATGTTTACGGCTCTCATA	0.423																																						ENST00000324695.4																			0				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66						c.(1390-1392)aCg>aTg		transient receptor potential cation channel, subfamily M, member 8	Menthol(DB00825)	C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	107.0	100.0	103.0		1391	0.7	0.0	2	dbSNP_134	103	0,8600		0,0,4300	no	missense	TRPM8	NM_024080.4	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	464/1105	234869448	1,13005	2203	4300	6503	SO:0001583	missense	79054					integral to membrane		g.chr2:234869448C>T	AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.1391C>T	2.37:g.234869448C>T	ENSP00000323926:p.Thr464Met					TRPM8_ENST00000433712.2_Missense_Mutation_p.T152M	p.T464M	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	12	1431	+		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)	464					A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Missense_Mutation	SNP	ENST00000324695.4	37	c.1391C>T	CCDS33407.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.104330	0.37145	2.27E-4	0.0	ENSG00000144481	ENST00000324695;ENST00000433712	T;T	0.36157	1.27;1.27	5.8	0.678	0.17969	.	0.458728	0.23110	N	0.051817	T	0.26919	0.0659	L	0.38531	1.155	0.09310	N	1	B;D	0.65815	0.007;0.995	B;P	0.45474	0.001;0.482	T	0.15896	-1.0421	10	0.59425	D	0.04	-5.6271	5.8371	0.18613	0.0:0.561:0.1274:0.3116	.	152;464	A0AVG2;Q7Z2W7	.;TRPM8_HUMAN	M	464;152	ENSP00000323926:T464M;ENSP00000404423:T152M	ENSP00000323926:T464M	T	+	2	0	TRPM8	234534187	0.005000	0.15991	0.006000	0.13384	0.526000	0.34562	0.869000	0.27996	-0.162000	0.10964	0.655000	0.94253	ACG		0.423	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080		4	134	0	0	0	1	0	4	134				
GPRASP1	9737	broad.mit.edu	37	X	101909040	101909040	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chrX:101909040G>T	ENST00000361600.5	+	5	1000	c.199G>T	c.(199-201)Gag>Tag	p.E67*	GPRASP1_ENST00000444152.1_Nonsense_Mutation_p.E67*|GPRASP1_ENST00000537097.1_Nonsense_Mutation_p.E67*|GPRASP1_ENST00000415986.1_Nonsense_Mutation_p.E67*|RP4-769N13.7_ENST00000602441.1_RNA	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	67					endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CACCAAAGTTGAGACAAGTGC	0.542																																						ENST00000537097.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(199-201)Gag>Tag		G protein-coupled receptor associated sorting protein 1							139.0	136.0	137.0					X																	101909040		2203	4300	6503	SO:0001587	stop_gained	9737					cytoplasm	protein binding	g.chrX:101909040G>T	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.199G>T	X.37:g.101909040G>T	ENSP00000355146:p.Glu67*					RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000361600.5_Nonsense_Mutation_p.E67*|GPRASP1_ENST00000444152.1_Nonsense_Mutation_p.E67*|GPRASP1_ENST00000415986.1_Nonsense_Mutation_p.E67*	p.E67*	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN			6	1012	+			67					O43168|Q96LA1	Nonsense_Mutation	SNP	ENST00000361600.5	37	c.199G>T	CCDS35352.1	.	.	.	.	.	.	.	.	.	.	G	42	9.229049	0.99106	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	.	.	.	2.18	1.27	0.21489	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	0.0036	6.7052	0.23246	0.1683:0.0:0.8317:0.0	.	.	.	.	X	67	.	ENSP00000355146:E67X	E	+	1	0	GPRASP1	101795696	0.080000	0.21391	0.001000	0.08648	0.683000	0.39861	1.810000	0.38932	0.332000	0.23536	0.292000	0.19580	GAG		0.542	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		8	320	1	0	0.000157383	1	0.000159401	8	320				
MED13	9969	broad.mit.edu	37	17	60140431	60140431	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr17:60140431A>G	ENST00000397786.2	-	2	374	c.298T>C	c.(298-300)Tca>Cca	p.S100P		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	100					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CTTTCACCTGATAAGTCATGG	0.383																																						ENST00000397786.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(298-300)Tca>Cca		mediator complex subunit 13							98.0	101.0	100.0					17																	60140431		1852	4091	5943	SO:0001583	missense	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60140431A>G	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.298T>C	17.37:g.60140431A>G	ENSP00000380888:p.Ser100Pro						p.S100P	NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN			2	374	-			100					B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	c.298T>C	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	A	12.29	1.895015	0.33442	.	.	ENSG00000108510	ENST00000397786	T	0.78364	-1.17	5.43	1.9	0.25705	Mediator complex, subunit Med13, N-terminal, metazoa/fungi (1);	1.121610	0.06538	N	0.742715	T	0.71600	0.3359	L	0.40543	1.245	0.53688	D	0.999973	B	0.27316	0.175	B	0.33254	0.16	T	0.59516	-0.7440	10	0.33141	T	0.24	.	8.6069	0.33778	0.5085:0.3885:0.0:0.1029	.	100	Q9UHV7	MED13_HUMAN	P	100	ENSP00000380888:S100P	ENSP00000380888:S100P	S	-	1	0	MED13	57495213	0.620000	0.27068	1.000000	0.80357	0.991000	0.79684	0.652000	0.24888	0.883000	0.36040	-0.291000	0.09656	TCA		0.383	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		8	139	0	0	0	1	0	8	139				
NLRP13	126204	broad.mit.edu	37	19	56443629	56443629	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr19:56443629G>A	ENST00000342929.3	-	1	48	c.49C>T	c.(49-51)Ctt>Ttt	p.L17F	NLRP13_ENST00000588751.1_Missense_Mutation_p.L17F	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	17	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.						ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TAAGGCAGAAGCCCTTGGTTG	0.527																																						ENST00000588751.1																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109						c.(49-51)Ctt>Ttt		NLR family, pyrin domain containing 13							86.0	80.0	82.0					19																	56443629		2203	4300	6503	SO:0001583	missense	126204						ATP binding	g.chr19:56443629G>A	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.49C>T	19.37:g.56443629G>A	ENSP00000343891:p.Leu17Phe					NLRP13_ENST00000342929.3_Missense_Mutation_p.L17F	p.L17F			Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	1	73	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	17			DAPIN.		Q7RTR5	Missense_Mutation	SNP	ENST00000342929.3	37	c.49C>T	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.561334	0.27915	.	.	ENSG00000173572	ENST00000342929	T	0.75704	-0.96	1.97	0.921	0.19403	Pyrin (2);DEATH-like (2);	.	.	.	.	T	0.72503	0.3468	M	0.76328	2.33	0.09310	N	1	B	0.28400	0.21	B	0.36719	0.231	T	0.65717	-0.6100	9	0.54805	T	0.06	.	4.4338	0.11540	0.1974:0.0:0.8026:0.0	.	17	Q86W25	NAL13_HUMAN	F	17	ENSP00000343891:L17F	ENSP00000343891:L17F	L	-	1	0	NLRP13	61135441	0.005000	0.15991	0.002000	0.10522	0.002000	0.02628	0.627000	0.24506	0.403000	0.25479	-0.229000	0.12294	CTT		0.527	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		34	74	0	0	0	1	0	34	74				
UBFD1	56061	broad.mit.edu	37	16	23569512	23569512	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr16:23569512G>C	ENST00000395878.3	+	2	648	c.267G>C	c.(265-267)aaG>aaC	p.K89N	UBFD1_ENST00000219638.4_Missense_Mutation_p.K313N|EARS2_ENST00000449606.1_5'Flank|UBFD1_ENST00000571064.1_3'UTR|EARS2_ENST00000563459.1_5'Flank|UBFD1_ENST00000567212.1_Missense_Mutation_p.K80N|EARS2_ENST00000564501.1_5'Flank|EARS2_ENST00000563232.1_5'Flank|UBFD1_ENST00000567264.1_Missense_Mutation_p.K89N	NM_019116.2	NP_061989.2	O14562	UBFD1_HUMAN	ubiquitin family domain containing 1	89	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.						poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7				GBM - Glioblastoma multiforme(48;0.0331)		TGGACTTGAAGATCATCTGGA	0.637																																					Melanoma(22;290 1069 22358 48158)	ENST00000395878.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(265-267)aaG>aaC		ubiquitin family domain containing 1							43.0	49.0	47.0					16																	23569512		2014	4187	6201	SO:0001583	missense	56061							g.chr16:23569512G>C	AK124139	CCDS10613.2	16p12.1	2008-11-05			ENSG00000103353	ENSG00000103353			30565	protein-coding gene	gene with protein product	"""ubiquitin-binding protein homolog"""					10493829	Standard	XM_006721064		Approved	FLJ42145, FLJ38870, UBPH	uc002dlv.3	O14562	OTTHUMG00000128855	ENST00000395878.3:c.267G>C	16.37:g.23569512G>C	ENSP00000379217:p.Lys89Asn					UBFD1_ENST00000571064.1_3'UTR|UBFD1_ENST00000219638.4_Missense_Mutation_p.K313N|UBFD1_ENST00000567264.1_Missense_Mutation_p.K89N|UBFD1_ENST00000567212.1_Missense_Mutation_p.K80N	p.K89N	NM_019116.2	NP_061989.2	O14562	UBFD1_HUMAN		GBM - Glioblastoma multiforme(48;0.0331)	2	648	+			89			Ubiquitin-like.		A8MW58|D3DWF2	Missense_Mutation	SNP	ENST00000395878.3	37	c.267G>C	CCDS10613.2	.	.	.	.	.	.	.	.	.	.	G	23.6	4.433273	0.83776	.	.	ENSG00000103353	ENST00000219638;ENST00000395878	.	.	.	4.4	4.4	0.53042	Ubiquitin supergroup (1);Ubiquitin (1);	0.057063	0.64402	D	0.000002	T	0.76263	0.3963	M	0.80847	2.515	0.46499	D	0.99907	D	0.60160	0.987	P	0.57679	0.825	T	0.80422	-0.1389	9	0.54805	T	0.06	-9.6562	16.352	0.83215	0.0:0.0:1.0:0.0	.	89	O14562	UBFD1_HUMAN	N	313;89	.	ENSP00000219638:K313N	K	+	3	2	UBFD1	23477013	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.720000	0.38022	2.148000	0.66965	0.460000	0.39030	AAG		0.637	UBFD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250795.2	NM_019116		12	71	0	0	0	1	0	12	71				
PI4KB	5298	broad.mit.edu	37	1	151262420	151262420	+	IGR	SNP	G	G	C	rs199686732		TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr1:151262420G>C	ENST00000368873.1	-	0	3340				ZNF687_ENST00000368879.2_Silent_p.L967L			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta						phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCTGTGGCCTGTGTCACTCCT	0.662													G|||	1	0.000199681	0.0	0.0	5008	,	,		17008	0.0		0.001	False		,,,				2504	0.0				Colon(154;765 1838 9854 28443 37492)	ENST00000368879.2																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32						c.(2899-2901)ctG>ctC		zinc finger protein 687		G		0,4382		0,0,2191	13.0	14.0	14.0		2901	-10.5	0.4	1		14	3,8555		0,3,4276	no	coding-synonymous	ZNF687	NM_020832.1		0,3,6467	CC,CG,GG		0.0351,0.0,0.0232		967/1238	151262420	3,12937	2191	4279	6470	SO:0001628	intergenic_variant	57592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	g.chr1:151262420G>C	AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348		1.37:g.151262420G>C							p.L967L	NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		6	2999	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		967					B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Silent	SNP	ENST00000368873.1	37	c.2901G>C		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	6.978	0.550456	0.13374	0.0	3.51E-4	ENSG00000143373	ENST00000426871	.	.	.	5.25	-10.5	0.00291	.	.	.	.	.	T	0.26304	0.0642	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49995	-0.8879	4	.	.	.	.	7.0733	0.25191	0.0866:0.3417:0.4558:0.1159	.	.	.	.	S	570	.	.	C	+	2	0	ZNF687	149529044	0.000000	0.05858	0.393000	0.26258	0.968000	0.65278	-3.377000	0.00492	-2.108000	0.00839	0.313000	0.20887	TGT		0.662	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3	NM_002651		7	12	0	0	0	1	0	7	12				
ZDHHC17	23390	broad.mit.edu	37	12	77242026	77242026	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr12:77242026C>G	ENST00000426126.2	+	15	2170	c.1521C>G	c.(1519-1521)caC>caG	p.H507Q	ZDHHC17_ENST00000550789.1_3'UTR|ZDHHC17_ENST00000334822.5_Missense_Mutation_p.H507Q	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	507					lipoprotein transport (GO:0042953)|magnesium ion transport (GO:0015693)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein palmitoylation (GO:0018345)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						GGGGACTCCACTGTGAGACCA	0.428																																						ENST00000426126.2																			0				breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						c.(1519-1521)caC>caG		zinc finger, DHHC-type containing 17							170.0	164.0	166.0					12																	77242026		1972	4160	6132	SO:0001583	missense	23390				lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding	g.chr12:77242026C>G	AB023163	CCDS44946.1	12q21.2	2013-01-10				ENSG00000186908		"""Zinc fingers, DHHC-type"", ""Ankyrin repeat domain containing"""	18412	protein-coding gene	gene with protein product		607799				9700202, 18794299	Standard	NM_015336		Approved	HIP14, HYPH, KIAA0946	uc001syk.1	Q8IUH5	OTTHUMG00000169917	ENST00000426126.2:c.1521C>G	12.37:g.77242026C>G	ENSP00000403397:p.His507Gln					ZDHHC17_ENST00000334822.5_Missense_Mutation_p.H507Q|ZDHHC17_ENST00000550789.1_3'UTR	p.H507Q	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN			15	2170	+			507					B4DR39|O75407|Q7Z2I0|Q86W89|Q86YK0|Q9P088|Q9UPZ8	Missense_Mutation	SNP	ENST00000426126.2	37	c.1521C>G	CCDS44946.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.826332	0.50739	.	.	ENSG00000186908	ENST00000426126;ENST00000334822	T;T	0.23348	1.91;1.91	5.58	2.8	0.32819	.	0.000000	0.85682	D	0.000000	T	0.21387	0.0515	N	0.04820	-0.15	0.80722	D	1	D	0.63880	0.993	D	0.65987	0.94	T	0.06516	-1.0822	10	0.13108	T	0.6	-9.8576	8.731	0.34498	0.0:0.7131:0.0:0.2869	.	507	Q8IUH5	ZDH17_HUMAN	Q	507	ENSP00000403397:H507Q;ENSP00000334868:H507Q	ENSP00000334868:H507Q	H	+	3	2	ZDHHC17	75766157	0.998000	0.40836	1.000000	0.80357	0.952000	0.60782	0.701000	0.25616	0.316000	0.23135	-0.136000	0.14681	CAC		0.428	ZDHHC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406555.1	NM_015336		7	52	0	0	0	1	0	7	52				
GPRASP1	9737	broad.mit.edu	37	X	101909041	101909041	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chrX:101909041A>G	ENST00000361600.5	+	5	1001	c.200A>G	c.(199-201)gAg>gGg	p.E67G	GPRASP1_ENST00000444152.1_Missense_Mutation_p.E67G|GPRASP1_ENST00000537097.1_Missense_Mutation_p.E67G|GPRASP1_ENST00000415986.1_Missense_Mutation_p.E67G|RP4-769N13.7_ENST00000602441.1_RNA	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	67					endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						ACCAAAGTTGAGACAAGTGCA	0.542																																						ENST00000537097.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(199-201)gAg>gGg		G protein-coupled receptor associated sorting protein 1							140.0	136.0	137.0					X																	101909041		2203	4300	6503	SO:0001583	missense	9737					cytoplasm	protein binding	g.chrX:101909041A>G	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.200A>G	X.37:g.101909041A>G	ENSP00000355146:p.Glu67Gly					RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000361600.5_Missense_Mutation_p.E67G|GPRASP1_ENST00000444152.1_Missense_Mutation_p.E67G|GPRASP1_ENST00000415986.1_Missense_Mutation_p.E67G	p.E67G	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN			6	1013	+			67					O43168|Q96LA1	Missense_Mutation	SNP	ENST00000361600.5	37	c.200A>G	CCDS35352.1	.	.	.	.	.	.	.	.	.	.	A	9.703	1.154913	0.21371	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.11169	2.8;2.8;2.8;2.8	2.18	-3.17	0.05202	.	.	.	.	.	T	0.06962	0.0177	L	0.27053	0.805	0.09310	N	1	B	0.16166	0.016	B	0.13407	0.009	T	0.35773	-0.9775	9	0.72032	D	0.01	0.0036	6.4832	0.22075	0.4251:0.0:0.0:0.5749	.	67	Q5JY77	GASP1_HUMAN	G	67	ENSP00000393691:E67G;ENSP00000409420:E67G;ENSP00000355146:E67G;ENSP00000445683:E67G	ENSP00000355146:E67G	E	+	2	0	GPRASP1	101795697	0.054000	0.20591	0.000000	0.03702	0.688000	0.40055	0.954000	0.29175	-0.802000	0.04421	0.242000	0.17961	GAG		0.542	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		8	317	0	0	0	1	0	8	317				
GPR112	139378	broad.mit.edu	37	X	135439900	135439900	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chrX:135439900C>T	ENST00000394143.1	+	10	7256	c.6965C>T	c.(6964-6966)tCc>tTc	p.S2322F	GPR112_ENST00000287534.4_Intron|GPR112_ENST00000412101.1_Missense_Mutation_p.S2117F|GPR112_ENST00000394141.1_Missense_Mutation_p.S2117F|GPR112_ENST00000370652.1_Missense_Mutation_p.S2322F	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2322					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(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GCTACAATTTCCTATGTACCA	0.363																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(6964-6966)tCc>tTc		G protein-coupled receptor 112							215.0	199.0	204.0					X																	135439900		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135439900C>T	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.6965C>T	X.37:g.135439900C>T	ENSP00000377699:p.Ser2322Phe					GPR112_ENST00000287534.4_Intron|GPR112_ENST00000412101.1_Missense_Mutation_p.S2117F|GPR112_ENST00000394141.1_Missense_Mutation_p.S2117F|GPR112_ENST00000370652.1_Missense_Mutation_p.S2322F	p.S2322F	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			10	7256	+	Acute lymphoblastic leukemia(192;0.000127)		2322					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.6965C>T	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	C	8.771	0.925990	0.18056	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000394141	T;T;T;T	0.29397	1.6;1.6;1.57;1.57	5.43	2.64	0.31445	.	.	.	.	.	T	0.11793	0.0287	N	0.08118	0	0.46499	D	0.999073	B;B	0.18461	0.028;0.02	B;B	0.19946	0.027;0.007	T	0.13522	-1.0506	9	0.08381	T	0.77	.	4.2492	0.10686	0.1817:0.6184:0.0:0.1999	.	2117;2322	Q8IZF6-3;Q8IZF6	.;GP112_HUMAN	F	2322;2322;2117;2117	ENSP00000377699:S2322F;ENSP00000359686:S2322F;ENSP00000416526:S2117F;ENSP00000377697:S2117F	ENSP00000359686:S2322F	S	+	2	0	GPR112	135267566	0.901000	0.30685	0.935000	0.37517	0.972000	0.66771	1.307000	0.33516	0.191000	0.20236	0.600000	0.82982	TCC		0.363	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			5	397	0	0	0	1	0	5	397				
CLEC18A	348174	broad.mit.edu	37	16	69988452	69988452	+	Silent	SNP	C	C	T			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr16:69988452C>T	ENST00000288040.6	+	3	619	c.432C>T	c.(430-432)aaC>aaT	p.N144N	CLEC18A_ENST00000393701.2_Silent_p.N144N|CLEC18A_ENST00000568461.1_Silent_p.N144N|CLEC18A_ENST00000449317.2_Silent_p.N144N	NM_001136214.2	NP_001129686.1	A5D8T8	CL18A_HUMAN	C-type lectin domain family 18, member A	144	SCP.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(2)|lung(1)|skin(1)	5						GTGCTCGCAACGCCACCTGCA	0.612																																						ENST00000288040.6																			0				NS(1)|endometrium(2)|lung(1)|skin(1)	5						c.(430-432)aaC>aaT		C-type lectin domain family 18, member A							19.0	21.0	20.0					16																	69988452		2190	4250	6440	SO:0001819	synonymous_variant	348174					extracellular region	sugar binding	g.chr16:69988452C>T	AF428259	CCDS10886.1	16q22.1	2010-04-27	2009-03-10	2009-03-10		ENSG00000157322		"""C-type lectin domain containing"""	30388	protein-coding gene	gene with protein product	"""mannose receptor-like"""					12975309	Standard	NM_001136214		Approved	MRCL	uc010vlo.3	A5D8T8		ENST00000288040.6:c.432C>T	16.37:g.69988452C>T						CLEC18A_ENST00000568461.1_Silent_p.N144N|CLEC18A_ENST00000449317.2_Silent_p.N144N|CLEC18A_ENST00000393701.2_Silent_p.N144N	p.N144N	NM_001136214.1|NM_001271197.1	NP_001129686.1|NP_001258126.1	A5D8T8	CL18A_HUMAN			3	619	+			144			SCP.		A8K1G9|Q6DCB3|Q7Z5K9|Q96HH2	Silent	SNP	ENST00000288040.6	37	c.432C>T	CCDS10886.1																																																																																				0.612	CLEC18A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268955.2	NM_182619		8	37	0	0	0	1	0	8	37				
CELSR2	1952	broad.mit.edu	37	1	109792765	109792765	+	Silent	SNP	C	C	T			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr1:109792765C>T	ENST00000271332.3	+	1	125	c.64C>T	c.(64-66)Ctg>Ttg	p.L22L		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	22					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		gctgctgttgctgctgctgct	0.746																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(64-66)Ctg>Ttg		cadherin, EGF LAG seven-pass G-type receptor 2							9.0	12.0	11.0					1																	109792765		2003	3967	5970	SO:0001819	synonymous_variant	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109792765C>T	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.64C>T	1.37:g.109792765C>T							p.L22L	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	125	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	22					Q5T2Y7|Q92566	Silent	SNP	ENST00000271332.3	37	c.64C>T	CCDS796.1																																																																																				0.746	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		3	26	0	0	0	1	0	3	26				
NPEPPS	9520	broad.mit.edu	37	17	45668227	45668227	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr17:45668227G>A	ENST00000322157.4	+	10	1477	c.1240G>A	c.(1240-1242)Gat>Aat	p.D414N	NPEPPS_ENST00000544660.1_Missense_Mutation_p.D334N|NPEPPS_ENST00000530173.1_Missense_Mutation_p.D410N|NPEPPS_ENST00000525037.1_3'UTR	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	414					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to hypoxia (GO:0071456)|protein polyubiquitination (GO:0000209)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						TGACGCCTTAGATAACAGCCA	0.403																																						ENST00000322157.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						c.(1240-1242)Gat>Aat		aminopeptidase puromycin sensitive							111.0	80.0	89.0					17																	45668227		1862	4088	5950	SO:0001583	missense	9520				proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding	g.chr17:45668227G>A	Y07701	CCDS45721.1	17q12-q21	2008-07-18			ENSG00000141279	ENSG00000141279	3.4.11.2		7900	protein-coding gene	gene with protein product	"""puromycin-sensitive aminopeptidase"", ""metalloproteinase MP100"""	606793				9048733, 10329370	Standard	NM_006310		Approved	PSA, MP100	uc002ilr.4	P55786	OTTHUMG00000165471	ENST00000322157.4:c.1240G>A	17.37:g.45668227G>A	ENSP00000320324:p.Asp414Asn					NPEPPS_ENST00000525037.1_3'UTR|NPEPPS_ENST00000530173.1_Missense_Mutation_p.D410N|NPEPPS_ENST00000544660.1_Missense_Mutation_p.D334N	p.D414N	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN			10	1477	+			414					B7Z463|Q6P145|Q9NP16|Q9UEM2	Missense_Mutation	SNP	ENST00000322157.4	37	c.1240G>A	CCDS45721.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.350171	0.82132	.	.	ENSG00000141279	ENST00000530173;ENST00000322157;ENST00000539572;ENST00000544660;ENST00000527964;ENST00000527360	T;T;T;T;T	0.02737	4.18;4.18;4.18;4.18;4.18	5.58	5.58	0.84498	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.043386	0.85682	D	0.000000	T	0.02688	0.0081	N	0.12853	0.265	0.80722	D	1	B;B;B	0.17038	0.02;0.007;0.007	B;B;B	0.17433	0.018;0.014;0.014	T	0.60286	-0.7293	10	0.19147	T	0.46	.	19.5562	0.95349	0.0:0.0:1.0:0.0	.	414;410;414	A6NEC2;E9PLK3;P55786	PSAL_HUMAN;.;PSA_HUMAN	N	410;414;401;334;97;111	ENSP00000433287:D410N;ENSP00000320324:D414N;ENSP00000442461:D334N;ENSP00000435639:D97N;ENSP00000435966:D111N	ENSP00000320324:D414N	D	+	1	0	NPEPPS	43023226	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.714000	0.98744	2.622000	0.88805	0.591000	0.81541	GAT		0.403	NPEPPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384269.1	NM_006310		24	233	0	0	0	1	0	24	233				
KRTAP10-2	386679	broad.mit.edu	37	21	45971301	45971301	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr21:45971301G>C	ENST00000391621.1	-	1	87	c.41C>G	c.(40-42)aCc>aGc	p.T14S	KRTAP10-2_ENST00000498210.1_5'UTR|TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	14						keratin filament (GO:0045095)				large_intestine(1)|lung(4)|skin(1)	6						CCAGGAGTTGGTGCAGGCGCT	0.667																																						ENST00000391621.1																			0				large_intestine(1)|lung(4)|skin(1)	6						c.(40-42)aCc>aGc		keratin associated protein 10-2							81.0	86.0	84.0					21																	45971301		2203	4300	6503	SO:0001583	missense	386679					keratin filament		g.chr21:45971301G>C	AJ566381	CCDS42955.1	21q22.3	2007-10-05			ENSG00000205445	ENSG00000205445		"""Keratin associated proteins"""	22967	protein-coding gene	gene with protein product				KRTAP18-2			Standard	NM_198693		Approved	KAP10.2, KAP18.2	uc002zfi.1	P60368	OTTHUMG00000057625	ENST00000391621.1:c.41C>G	21.37:g.45971301G>C	ENSP00000375479:p.Thr14Ser					TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron|KRTAP10-2_ENST00000498210.1_5'UTR	p.T14S	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN			1	87	-			14					Q70LJ5	Missense_Mutation	SNP	ENST00000391621.1	37	c.41C>G	CCDS42955.1	.	.	.	.	.	.	.	.	.	.	g	0.010	-1.753356	0.00663	.	.	ENSG00000205445	ENST00000391621	T	0.04454	3.62	3.46	3.46	0.39613	.	.	.	.	.	T	0.02230	0.0069	N	0.03999	-0.3	0.09310	N	1	B	0.15719	0.014	B	0.11329	0.006	T	0.39482	-0.9612	9	0.02654	T	1	.	10.4666	0.44611	0.0:0.0:1.0:0.0	.	14	P60368	KR102_HUMAN	S	14	ENSP00000375479:T14S	ENSP00000375479:T14S	T	-	2	0	KRTAP10-2	44795729	0.001000	0.12720	0.005000	0.12908	0.052000	0.14988	0.323000	0.19593	1.486000	0.48398	0.306000	0.20318	ACC		0.667	KRTAP10-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128027.1			19	138	0	0	0	1	0	19	138				
DMD	1756	broad.mit.edu	37	X	31854865	31854865	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chrX:31854865G>C	ENST00000357033.4	-	49	7376	c.7170C>G	c.(7168-7170)taC>taG	p.Y2390*	DMD_ENST00000359836.1_5'UTR|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000378677.2_Nonsense_Mutation_p.Y2386*|DMD_ENST00000541735.1_5'UTR	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2390					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GTTTTTCCTTGTACAAATGCT	0.428																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(7168-7170)taC>taG		dystrophin							216.0	178.0	191.0					X																	31854865		2202	4300	6502	SO:0001587	stop_gained	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31854865G>C	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.7170C>G	X.37:g.31854865G>C	ENSP00000354923:p.Tyr2390*					DMD_ENST00000378677.2_Nonsense_Mutation_p.Y2386*|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000343523.2_5'UTR	p.Y2390*	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			49	7376	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	2390					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Nonsense_Mutation	SNP	ENST00000357033.4	37	c.7170C>G	CCDS14233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	50|50	16.632147|16.632147	0.99868|0.99868	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000465285|ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	.|.	.|.	.|.	5.64|5.64	4.76|4.76	0.60689|0.60689	.|.	.|0.000000	.|0.32244	.|U	.|0.006361	T|.	0.35158|.	0.0922|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.11446|.	-1.0587|.	4|.	.|0.09084	.|T	.|0.74	.|.	6.393|6.393	0.21597|0.21597	0.2799:0.0:0.7201:0.0|0.2799:0.0:0.7201:0.0	.|.	.|.	.|.	.|.	E|X	119|2382;1049;1046;86;2386;2390;2390;2267	.|.	.|ENSP00000354923:Y2390X	Q|Y	-|-	1|3	0|2	DMD|DMD	31764786|31764786	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.931000|0.931000	0.56810|0.56810	1.708000|1.708000	0.37899|0.37899	1.116000|1.116000	0.41820|0.41820	0.422000|0.422000	0.28245|0.28245	CAA|TAC		0.428	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		84	150	0	0	0	1	0	84	150				
ZNF724P	440519	broad.mit.edu	37	19	23406026	23406026	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr19:23406026C>G	ENST00000418100.1	-	4	1138	c.1021G>C	c.(1021-1023)Gaa>Caa	p.E341Q				A8MTY0	ZN724_HUMAN	zinc finger protein 724, pseudogene	341					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						CCACATTCTTCACATTTATAA	0.383																																						ENST00000418100.1																			0				endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						c.(1021-1023)Gaa>Caa																																						SO:0001583	missense	0							g.chr19:23406026C>G			19p12	2014-02-14	2010-08-03		ENSG00000196081	ENSG00000196081			32460	pseudogene	pseudogene			"""zinc finger protein 724 pseudogene"", ""zinc finger protein 724 (pseudogene)"""				Standard	NR_045525		Approved		uc021uru.1	A8MTY0	OTTHUMG00000183231	ENST00000418100.1:c.1021G>C	19.37:g.23406026C>G	ENSP00000413411:p.Glu341Gln						p.E341Q							4	1138	-									Missense_Mutation	SNP	ENST00000418100.1	37	c.1021G>C		.	.	.	.	.	.	.	.	.	.	C	3.605	-0.080812	0.07141	.	.	ENSG00000196081	ENST00000418100	T	0.07688	3.17	1.07	-2.14	0.07123	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04998	0.0134	.	.	.	0.09310	N	1	D	0.65815	0.995	B	0.41510	0.359	T	0.24977	-1.0145	8	0.45353	T	0.12	.	1.057	0.01592	0.2005:0.2122:0.3951:0.1922	.	341	A8MTY0	ZN724_HUMAN	Q	341	ENSP00000413411:E341Q	ENSP00000413411:E341Q	E	-	1	0	ZNF724P	23197866	0.000000	0.05858	0.542000	0.28115	0.486000	0.33341	-5.223000	0.00140	-0.511000	0.06514	-0.512000	0.04463	GAA		0.383	ZNF724P-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000465743.1			5	29	0	0	0	1	0	5	29				
ESPNL	339768	broad.mit.edu	37	2	239039021	239039021	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr2:239039021C>G	ENST00000343063.3	+	9	1929	c.1666C>G	c.(1666-1668)Ccc>Gcc	p.P556A	ESPNL_ENST00000409506.1_Missense_Mutation_p.P188A|ESPNL_ENST00000477241.1_3'UTR|ESPNL_ENST00000409169.1_Missense_Mutation_p.P512A	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	556										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CCACTTCCTGCCCCGGGCGCC	0.701																																						ENST00000343063.3																			0				endometrium(1)|lung(8)|pancreas(2)|skin(2)	13						c.(1666-1668)Ccc>Gcc		espin-like							10.0	12.0	11.0					2																	239039021		2148	4232	6380	SO:0001583	missense	339768							g.chr2:239039021C>G	AK124559	CCDS2525.1	2q37.3	2013-01-10			ENSG00000144488	ENSG00000144488		"""Ankyrin repeat domain containing"""	27937	protein-coding gene	gene with protein product						12975309	Standard	NM_194312		Approved	FLJ42568	uc002vxq.4	Q6ZVH7	OTTHUMG00000133335	ENST00000343063.3:c.1666C>G	2.37:g.239039021C>G	ENSP00000339115:p.Pro556Ala					ESPNL_ENST00000409506.1_Missense_Mutation_p.P188A|ESPNL_ENST00000409169.1_Missense_Mutation_p.P512A|ESPNL_ENST00000477241.1_3'UTR	p.P556A	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)	9	1929	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	556					Q66K27|Q6ZVG1|Q8IVU2	Missense_Mutation	SNP	ENST00000343063.3	37	c.1666C>G	CCDS2525.1	.	.	.	.	.	.	.	.	.	.	C	5.915	0.352919	0.11182	.	.	ENSG00000144488	ENST00000343063;ENST00000409169;ENST00000409506	T;T;T	0.26660	1.72;1.72;1.72	3.05	0.974	0.19715	.	0.438124	0.16648	N	0.205344	T	0.19287	0.0463	L	0.47716	1.5	0.27420	N	0.954326	P;B	0.41978	0.767;0.172	B;B	0.38264	0.269;0.058	T	0.10520	-1.0626	10	0.56958	D	0.05	-15.5951	6.6468	0.22939	0.1753:0.7132:0.0:0.1115	.	512;556	Q6ZVH7-2;Q6ZVH7	.;ESPNL_HUMAN	A	556;512;188	ENSP00000339115:P556A;ENSP00000386577:P512A;ENSP00000386579:P188A	ENSP00000339115:P556A	P	+	1	0	ESPNL	238703760	0.992000	0.36948	0.958000	0.39756	0.183000	0.23260	1.103000	0.31062	0.632000	0.30432	0.400000	0.26472	CCC		0.701	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257164.2	NM_194312		9	11	0	0	0	1	0	9	11				
ZNF823	55552	broad.mit.edu	37	19	11833735	11833735	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr19:11833735C>G	ENST00000341191.6	-	4	767	c.614G>C	c.(613-615)aGt>aCt	p.S205T	ZNF823_ENST00000545749.1_Missense_Mutation_p.S23T	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	205					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						ATGAAATAAACTGGGCCAAAC	0.418										HNSCC(68;0.2)																												ENST00000341191.6																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						c.(613-615)aGt>aCt		zinc finger protein 823							94.0	100.0	98.0					19																	11833735		2202	4299	6501	SO:0001583	missense	55552				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11833735C>G	X51760	CCDS45981.1	19p13.2	2013-01-08			ENSG00000197933	ENSG00000197933		"""Zinc fingers, C2H2-type"", ""-"""	30936	protein-coding gene	gene with protein product	"""ZFP 36 for a zinc finger protein"""						Standard	XM_006722789		Approved	HSZFP36	uc002msm.2	P16415	OTTHUMG00000156528	ENST00000341191.6:c.614G>C	19.37:g.11833735C>G	ENSP00000340683:p.Ser205Thr	HNSCC(68;0.2)				ZNF823_ENST00000545749.1_Missense_Mutation_p.S23T	p.S205T	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN			4	767	-			205					A0PJL4|B7Z8D4|Q6P4A9	Missense_Mutation	SNP	ENST00000341191.6	37	c.614G>C	CCDS45981.1	.	.	.	.	.	.	.	.	.	.	c	15.26	2.779409	0.49891	.	.	ENSG00000197933	ENST00000545749;ENST00000341191;ENST00000431998	T;T;T	0.07567	3.18;3.18;3.18	0.632	-1.03	0.10102	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13841	0.0335	L	0.38953	1.18	0.09310	N	1	D	0.76494	0.999	D	0.78314	0.991	T	0.18304	-1.0341	9	0.48119	T	0.1	.	3.8337	0.08885	0.2635:0.4745:0.262:0.0	.	205	P16415	ZN823_HUMAN	T	23;205;161	ENSP00000440162:S23T;ENSP00000340683:S205T;ENSP00000410654:S161T	ENSP00000340683:S205T	S	-	2	0	ZNF823	11694735	0.000000	0.05858	0.000000	0.03702	0.925000	0.55904	-1.304000	0.02741	-0.266000	0.09339	0.298000	0.19748	AGT		0.418	ZNF823-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344516.2	NM_001080493		34	187	0	0	0	1	0	34	187				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			47	72	0	0	0	1	0	47	72				
FAT1	2195	broad.mit.edu	37	4	187539809	187539809	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr4:187539809T>C	ENST00000441802.2	-	10	8140	c.7931A>G	c.(7930-7932)gAg>gGg	p.E2644G		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2644	Cadherin 24. {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						TTCCAAATTCTCTTTTACACT	0.423										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(7930-7932)gAg>gGg		FAT atypical cadherin 1							51.0	48.0	49.0					4																	187539809		1875	4115	5990	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187539809T>C	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.7931A>G	4.37:g.187539809T>C	ENSP00000406229:p.Glu2644Gly	HNSCC(5;0.00058)					p.E2644G	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			10	8140	-			2644			Cadherin 24.			Missense_Mutation	SNP	ENST00000441802.2	37	c.7931A>G	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	T	15.69	2.907827	0.52333	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.48522	0.81	5.2	5.2	0.72013	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.42291	0.1196	L	0.37697	1.125	0.80722	D	1	B	0.27380	0.177	B	0.31869	0.137	T	0.30621	-0.9972	10	0.38643	T	0.18	.	15.526	0.75905	0.0:0.0:0.0:1.0	.	2644	Q14517	FAT1_HUMAN	G	2644;2646	ENSP00000406229:E2644G	ENSP00000260147:E2646G	E	-	2	0	FAT1	187776803	1.000000	0.71417	0.997000	0.53966	0.830000	0.47004	7.868000	0.87116	2.308000	0.77769	0.533000	0.62120	GAG		0.423	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		21	50	0	0	0	1	0	21	50				
CXorf23	256643	broad.mit.edu	37	X	19953961	19953961	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chrX:19953961C>T	ENST00000379682.4	-	9	1949	c.1916G>A	c.(1915-1917)gGa>gAa	p.G639E	CXorf23_ENST00000356980.3_Intron|CXorf23_ENST00000379687.3_Missense_Mutation_p.G610E			A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	639						mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						TCGGTGGTTTCCCTCAACCTC	0.348																																						ENST00000379687.3																			0				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						c.(1828-1830)gGa>gAa		chromosome X open reading frame 23							339.0	292.0	308.0					X																	19953961		2203	4300	6503	SO:0001583	missense	256643					mitochondrion		g.chrX:19953961C>T	AL833278	CCDS14194.2	Xp22.13	2012-11-27			ENSG00000173681	ENSG00000173681			27413	protein-coding gene	gene with protein product						14702039	Standard	NM_198279		Approved		uc004czp.3	A2AJT9	OTTHUMG00000021226	ENST00000379682.4:c.1916G>A	X.37:g.19953961C>T	ENSP00000369004:p.Gly639Glu					CXorf23_ENST00000379682.4_Missense_Mutation_p.G639E|CXorf23_ENST00000356980.3_Intron	p.G610E	NM_198279.3	NP_938020.2	A2AJT9	CX023_HUMAN			9	1862	-			639					A1A4E8|Q5VSM7|Q5VSN1|Q6ZS60|Q8N1W7	Missense_Mutation	SNP	ENST00000379682.4	37	c.1829G>A		.	.	.	.	.	.	.	.	.	.	C	0.003	-2.435197	0.00182	.	.	ENSG00000173681	ENST00000379687;ENST00000379682	T;T	0.12672	2.66;2.67	5.1	-2.69	0.06022	.	.	.	.	.	T	0.06234	0.0161	N	0.08118	0	0.09310	N	1	B;B	0.11235	0.001;0.004	B;B	0.11329	0.004;0.006	T	0.44050	-0.9353	8	.	.	.	.	10.9251	0.47187	0.0:0.3369:0.0:0.6631	.	610;639	A2AJT9-2;A2AJT9	.;CX023_HUMAN	E	610;639	ENSP00000369009:G610E;ENSP00000369004:G639E	.	G	-	2	0	CXorf23	19863882	0.001000	0.12720	0.001000	0.08648	0.058000	0.15608	-0.452000	0.06787	-0.650000	0.05423	0.538000	0.68166	GGA		0.348	CXorf23-006	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000055991.2	NM_198279		71	422	0	0	0	1	0	71	422				
FGD3	89846	broad.mit.edu	37	9	95797674	95797674	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr9:95797674G>C	ENST00000375482.3	+	18	2477	c.1981G>C	c.(1981-1983)Gac>Cac	p.D661H	FGD3_ENST00000416701.2_Missense_Mutation_p.D660H|FGD3_ENST00000337352.6_Missense_Mutation_p.D661H|FGD3_ENST00000538555.1_Missense_Mutation_p.D264H	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	661	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|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)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						GAGTGTGCCGGACCCTGAGGA	0.677																																						ENST00000375482.3																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						c.(1981-1983)Gac>Cac		FYVE, RhoGEF and PH domain containing 3							29.0	36.0	34.0					9																	95797674		2135	4241	6376	SO:0001583	missense	89846				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr9:95797674G>C	AK000004	CCDS43849.1, CCDS69619.1	9q22	2013-01-10	2004-08-24		ENSG00000127084	ENSG00000127084		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16027	protein-coding gene	gene with protein product			"""FGD1 family, member 3"""			11214971	Standard	NM_001083536		Approved	FLJ00004, ZFYVE5	uc004asz.2	Q5JSP0	OTTHUMG00000021032	ENST00000375482.3:c.1981G>C	9.37:g.95797674G>C	ENSP00000364631:p.Asp661His					FGD3_ENST00000337352.6_Missense_Mutation_p.D661H|FGD3_ENST00000416701.2_Missense_Mutation_p.D660H|FGD3_ENST00000538555.1_Missense_Mutation_p.D264H	p.D661H	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN			18	2477	+			661			PH 2.		F8W7P2|Q4VX84|Q7Z7D9|Q8N5G1	Missense_Mutation	SNP	ENST00000375482.3	37	c.1981G>C	CCDS43849.1	.	.	.	.	.	.	.	.	.	.	g	12.74	2.028563	0.35797	.	.	ENSG00000127084	ENST00000375482;ENST00000416701;ENST00000337352;ENST00000538555	T;T;T;T	0.74002	-0.71;-0.71;-0.71;-0.8	4.51	4.51	0.55191	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.381500	0.19270	N	0.118459	T	0.73353	0.3576	M	0.72894	2.215	0.09310	N	1	B;B	0.18461	0.028;0.023	B;B	0.20955	0.032;0.03	T	0.66945	-0.5795	10	0.56958	D	0.05	.	13.4491	0.61161	0.0:0.0:1.0:0.0	.	660;661	F8W7P2;Q5JSP0	.;FGD3_HUMAN	H	661;660;661;264	ENSP00000364631:D661H;ENSP00000413833:D660H;ENSP00000336914:D661H;ENSP00000442560:D264H	ENSP00000336914:D661H	D	+	1	0	FGD3	94837495	0.322000	0.24634	0.013000	0.15412	0.001000	0.01503	4.607000	0.61133	2.464000	0.83262	0.556000	0.70494	GAC		0.677	FGD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055493.1	NM_033086		4	11	0	0	0	1	0	4	11				
SEL1L	6400	broad.mit.edu	37	14	81950595	81950595	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr14:81950595G>A	ENST00000336735.4	-	19	2136	c.2020C>T	c.(2020-2022)Cat>Tat	p.H674Y		NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	674	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway (GO:0007219)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		CCTTTCTCATGCATATATCCC	0.393																																						ENST00000336735.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28						c.(2020-2022)Cat>Tat		sel-1 suppressor of lin-12-like (C. elegans)							342.0	335.0	337.0					14																	81950595		2203	4300	6503	SO:0001583	missense	6400				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr14:81950595G>A		CCDS9876.1, CCDS58333.1	14q31	2011-03-31	2001-11-28		ENSG00000071537	ENSG00000071537			10717	protein-coding gene	gene with protein product	"""sel-1 suppressor of lin-12-like 1 (C. elegans)"""	602329	"""sel-1 (suppressor of lin-12, C.elegans)-like"""			9417916, 10051412, 16331677	Standard	NM_005065		Approved	IBD2, SEL1L1	uc010tvv.2	Q9UBV2		ENST00000336735.4:c.2020C>T	14.37:g.81950595G>A	ENSP00000337053:p.His674Tyr						p.H674Y	NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0299)	19	2136	-			674			Interaction with ERLEC1, OS9 and SYVN1.		Q6UWT6|Q9P1T9|Q9UHK7	Missense_Mutation	SNP	ENST00000336735.4	37	c.2020C>T	CCDS9876.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.470798	0.84533	.	.	ENSG00000071537	ENST00000336735;ENST00000261258	T	0.39056	1.1	5.82	5.82	0.92795	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.35885	0.0947	N	0.00707	-1.245	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63761	-0.6564	10	0.30854	T	0.27	.	20.1178	0.97943	0.0:0.0:1.0:0.0	.	674	Q9UBV2	SE1L1_HUMAN	Y	674;35	ENSP00000337053:H674Y	ENSP00000261258:H35Y	H	-	1	0	SEL1L	81020348	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.335000	0.96500	2.759000	0.94783	0.557000	0.71058	CAT		0.393	SEL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413325.1	NM_005065		6	704	0	0	0	1	0	6	704				
DIAPH3	81624	broad.mit.edu	37	13	60490363	60490363	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr13:60490363G>A	ENST00000400324.4	-	19	2411	c.2191C>T	c.(2191-2193)Cgg>Tgg	p.R731W	DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400320.1_Missense_Mutation_p.R685W|DIAPH3_ENST00000377908.2_Missense_Mutation_p.R720W|DIAPH3_ENST00000400319.1_Missense_Mutation_p.R661W|DIAPH3_ENST00000267215.4_Missense_Mutation_p.R731W|DIAPH3_ENST00000400330.1_Missense_Mutation_p.R731W	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	731	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		TATGGCACCCGAAAAGAGCTC	0.343																																						ENST00000400324.4																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(2191-2193)Cgg>Tgg		diaphanous-related formin 3							114.0	100.0	104.0					13																	60490363		1822	4084	5906	SO:0001583	missense	81624				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr13:60490363G>A	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.2191C>T	13.37:g.60490363G>A	ENSP00000383178:p.Arg731Trp					DIAPH3_ENST00000400319.1_Missense_Mutation_p.R661W|DIAPH3_ENST00000400320.1_Missense_Mutation_p.R685W|DIAPH3_ENST00000267215.4_Missense_Mutation_p.R731W|DIAPH3_ENST00000377908.2_Missense_Mutation_p.R720W|DIAPH3_ENST00000400330.1_Missense_Mutation_p.R731W|DIAPH3_ENST00000465066.1_5'UTR	p.R731W	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN		GBM - Glioblastoma multiforme(99;2.77e-05)	19	2411	-		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)	731			FH2.		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	ENST00000400324.4	37	c.2191C>T	CCDS41898.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.439653	0.83885	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320;ENST00000267215;ENST00000267214;ENST00000453990	T;T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12;0.9	5.87	5.87	0.94306	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	D	0.84092	0.5396	M	0.89715	3.055	0.47819	D	0.99952	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.989;0.999;1.0	D	0.86408	0.1746	10	0.87932	D	0	.	19.8113	0.96547	0.0:0.0:1.0:0.0	.	468;468;731	Q9NSV4-2;Q9NSV4-1;Q9NSV4	.;.;DIAP3_HUMAN	W	731;731;720;685;661;720;661;685;731;468;731	ENSP00000383178:R731W;ENSP00000383184:R731W;ENSP00000367141:R720W;ENSP00000383173:R661W;ENSP00000383174:R685W;ENSP00000267215:R731W	ENSP00000267214:R468W	R	-	1	2	DIAPH3	59388364	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.569000	0.82380	2.767000	0.95098	0.591000	0.81541	CGG		0.343	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		14	80	0	0	0	1	0	14	80				
IL4R	3566	broad.mit.edu	37	16	27374364	27374364	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr16:27374364C>A	ENST00000395762.2	+	11	1950	c.1691C>A	c.(1690-1692)gCt>gAt	p.A564D	IL4R_ENST00000380922.3_Missense_Mutation_p.A549D|IL4R_ENST00000543915.2_Missense_Mutation_p.A564D|IL4R_ENST00000170630.2_Missense_Mutation_p.A564D	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	564	Poly-Ala.|Required for IL4-induced gene expression.				defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CATGGGGCAGCTGCAGCCCCC	0.657																																						ENST00000395762.2																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						c.(1690-1692)gCt>gAt		interleukin 4 receptor							26.0	32.0	30.0					16																	27374364		2197	4300	6497	SO:0001583	missense	3566				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	g.chr16:27374364C>A	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"""Interleukins and interleukin receptors"", ""CD molecules"""	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.1691C>A	16.37:g.27374364C>A	ENSP00000379111:p.Ala564Asp					IL4R_ENST00000543915.2_Missense_Mutation_p.A564D|IL4R_ENST00000170630.2_Missense_Mutation_p.A564D|IL4R_ENST00000380922.3_Missense_Mutation_p.A549D	p.A564D	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN			11	1950	+			564			Poly-Ala.|Required for IL4-induced gene expression.		B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Missense_Mutation	SNP	ENST00000395762.2	37	c.1691C>A	CCDS10629.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.656949	0.47467	.	.	ENSG00000077238	ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	T;T;T;T	0.12255	2.7;2.7;2.7;2.7	4.84	2.47	0.30058	.	1.625670	0.03868	N	0.275213	T	0.29817	0.0745	L	0.54323	1.7	0.09310	N	1	D;D;D	0.64830	0.994;0.994;0.994	P;P;P	0.59889	0.865;0.823;0.865	T	0.10965	-1.0607	10	0.72032	D	0.01	-26.9722	8.085	0.30767	0.0:0.78:0.0:0.22	.	549;564;564	B4E076;B9EGC0;P24394	.;.;IL4RA_HUMAN	D	564;564;549;564	ENSP00000379111:A564D;ENSP00000441667:A564D;ENSP00000370309:A549D;ENSP00000170630:A564D	ENSP00000170630:A564D	A	+	2	0	IL4R	27281865	0.004000	0.15560	0.020000	0.16555	0.006000	0.05464	0.719000	0.25881	1.045000	0.40225	0.555000	0.69702	GCT		0.657	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			17	51	1	0	7.07596e-05	1	7.21291e-05	17	51				
CKMT2	1160	broad.mit.edu	37	5	80547053	80547053	+	Silent	SNP	G	G	A			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr5:80547053G>A	ENST00000424301.2	+	3	340	c.102G>A	c.(100-102)cgG>cgA	p.R34R	CKMT2-AS1_ENST00000503483.2_RNA|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2_ENST00000437669.1_Silent_p.R34R|CKMT2-AS1_ENST00000512287.1_RNA|CKMT2-AS1_ENST00000500148.2_RNA|CKMT2-AS1_ENST00000511495.1_RNA|CKMT2-AS1_ENST00000505295.1_RNA|CKMT2_ENST00000505704.1_3'UTR|CKMT2_ENST00000254035.4_Silent_p.R34R|CKMT2-AS1_ENST00000501927.2_RNA	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	34					cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	TGCTGAACCGGCAGAAAGTGT	0.547																																						ENST00000424301.2																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17						c.(100-102)cgG>cgA		creatine kinase, mitochondrial 2 (sarcomeric)	Creatine(DB00148)						156.0	151.0	153.0					5																	80547053		2203	4300	6503	SO:0001819	synonymous_variant	1160				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity	g.chr5:80547053G>A		CCDS4053.1	5q14.1	2013-09-20			ENSG00000131730	ENSG00000131730	2.7.3.2		1996	protein-coding gene	gene with protein product		123295				2324105	Standard	NM_001825		Approved	SMTCK	uc003khd.4	P17540	OTTHUMG00000119013	ENST00000424301.2:c.102G>A	5.37:g.80547053G>A						CKMT2_ENST00000505704.1_3'UTR|CKMT2_ENST00000437669.1_Silent_p.R34R|CTC-281B15.1_ENST00000505295.1_RNA|CTC-281B15.1_ENST00000512287.1_RNA|CTC-281B15.1_ENST00000511495.1_RNA|CTC-281B15.1_ENST00000501927.2_RNA|CKMT2_ENST00000254035.4_Silent_p.R34R|CTC-281B15.1_ENST00000503483.2_RNA|CTC-281B15.1_ENST00000502041.2_RNA|CTC-281B15.1_ENST00000500148.2_RNA	p.R34R	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	3	340	+		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)	34					Q6ICS8|Q8N1E1	Silent	SNP	ENST00000424301.2	37	c.102G>A	CCDS4053.1																																																																																				0.547	CKMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369600.1	NM_001825		4	269	0	0	0	1	0	4	269				
CDH17	1015	broad.mit.edu	37	8	95189844	95189844	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr8:95189844T>C	ENST00000027335.3	-	4	380	c.256A>G	c.(256-258)Agg>Ggg	p.R86G	CDH17_ENST00000450165.2_Missense_Mutation_p.R86G|CDH17_ENST00000441892.2_Missense_Mutation_p.R86G	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	86	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CTTGTTTCCCTGTCCAAGGCT	0.463																																						ENST00000027335.3																			0				NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52						c.(256-258)Agg>Ggg		cadherin 17, LI cadherin (liver-intestine)							218.0	207.0	211.0					8																	95189844		2203	4300	6503	SO:0001583	missense	1015					integral to membrane	calcium ion binding	g.chr8:95189844T>C	X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"""Cadherins / Major cadherins"""	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.256A>G	8.37:g.95189844T>C	ENSP00000027335:p.Arg86Gly					CDH17_ENST00000450165.2_Missense_Mutation_p.R86G|CDH17_ENST00000441892.2_Missense_Mutation_p.R86G	p.R86G	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		4	380	-	Breast(36;4.65e-06)		86			Cadherin 1.		Q15336|Q2M2E0	Missense_Mutation	SNP	ENST00000027335.3	37	c.256A>G	CCDS6260.1	.	.	.	.	.	.	.	.	.	.	T	15.70	2.910391	0.52439	.	.	ENSG00000079112	ENST00000027335;ENST00000441892;ENST00000450165;ENST00000521491	T;T;T;T	0.65732	-0.17;4.66;-0.17;0.22	6.04	3.55	0.40652	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000009	T	0.81498	0.4835	H	0.96111	3.77	0.32677	N	0.516087	D;P	0.89917	1.0;0.913	D;B	0.97110	1.0;0.345	T	0.82667	-0.0344	10	0.44086	T	0.13	-21.5268	4.7853	0.13222	0.2339:0.0823:0.0:0.6838	.	86;86	E7EN24;Q12864	.;CAD17_HUMAN	G	86	ENSP00000027335:R86G;ENSP00000392811:R86G;ENSP00000401468:R86G;ENSP00000428189:R86G	ENSP00000027335:R86G	R	-	1	2	CDH17	95259020	1.000000	0.71417	1.000000	0.80357	0.337000	0.28794	0.586000	0.23894	1.107000	0.41642	0.460000	0.39030	AGG		0.463	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063		53	155	0	0	0	1	0	53	155				
OR4N5	390437	broad.mit.edu	37	14	20612565	20612565	+	Missense_Mutation	SNP	G	G	A	rs143406902	byFrequency	TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr14:20612565G>A	ENST00000333629.1	+	1	671	c.671G>A	c.(670-672)cGt>cAt	p.R224H	RNA5SP381_ENST00000516076.1_RNA	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		ATCCTCTGTCGTATAAGGGAG	0.483													G|||	2	0.000399361	0.0	0.0	5008	,	,		20895	0.002		0.0	False		,,,				2504	0.0					ENST00000333629.1																			0				endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29						c.(670-672)cGt>cAt		olfactory receptor, family 4, subfamily N, member 5		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	114.0	107.0	110.0		671	-3.2	0.0	14	dbSNP_134	110	0,8600		0,0,4300	yes	missense	OR4N5	NM_001004724.1	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	224/309	20612565	1,13005	2203	4300	6503	SO:0001583	missense	390437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20612565G>A		CCDS32031.1	14q11.2	2013-09-23			ENSG00000184394	ENSG00000184394		"""GPCR / Class A : Olfactory receptors"""	15358	protein-coding gene	gene with protein product							Standard	NM_001004724		Approved		uc010tla.2	Q8IXE1	OTTHUMG00000170784	ENST00000333629.1:c.671G>A	14.37:g.20612565G>A	ENSP00000332110:p.Arg224His						p.R224H	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)	1	671	+	all_cancers(95;0.00108)		224					Q6IF11	Missense_Mutation	SNP	ENST00000333629.1	37	c.671G>A	CCDS32031.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	0.004	-2.307466	0.00240	2.27E-4	0.0	ENSG00000184394	ENST00000333629	T	0.00099	8.73	3.31	-3.22	0.05125	GPCR, rhodopsin-like superfamily (1);	0.617765	0.13216	N	0.404725	T	0.00073	0.0002	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.05533	-1.0879	10	0.33141	T	0.24	.	10.3315	0.43825	0.6833:0.0:0.3167:0.0	.	224	Q8IXE1	OR4N5_HUMAN	H	224	ENSP00000332110:R224H	ENSP00000332110:R224H	R	+	2	0	OR4N5	19682405	0.000000	0.05858	0.000000	0.03702	0.077000	0.17291	-3.074000	0.00617	-0.811000	0.04369	-0.127000	0.14921	CGT		0.483	OR4N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410347.1			43	226	0	0	0	1	0	43	226				
RFX7	64864	broad.mit.edu	37	15	56395801	56395801	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr15:56395801C>G	ENST00000559447.2	-	5	449	c.178G>C	c.(178-180)Gtc>Ctc	p.V60L	RFX7_ENST00000317318.6_Missense_Mutation_p.V157L|RFX7_ENST00000423270.1_Missense_Mutation_p.V157L|RFX7_ENST00000422057.1_Missense_Mutation_p.V60L			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	60					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TTTGGAAAGACGTTTTTCATG	0.393																																						ENST00000423270.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(469-471)Gtc>Ctc		regulatory factor X, 7							88.0	83.0	85.0					15																	56395801		1879	4107	5986	SO:0001583	missense	64864				regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr15:56395801C>G			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.178G>C	15.37:g.56395801C>G	ENSP00000453281:p.Val60Leu					RFX7_ENST00000317318.6_Missense_Mutation_p.V157L|RFX7_ENST00000422057.1_Missense_Mutation_p.V60L|RFX7_ENST00000559447.2_Missense_Mutation_p.V60L	p.V157L	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN			5	468	-			60					Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Missense_Mutation	SNP	ENST00000559447.2	37	c.469G>C		.	.	.	.	.	.	.	.	.	.	C	24.7	4.565364	0.86439	.	.	ENSG00000181827	ENST00000422057;ENST00000317318;ENST00000423270	D;D;D	0.83837	-1.77;-1.77;-1.77	5.54	3.63	0.41609	Winged helix-turn-helix transcription repressor DNA-binding (1);DNA-binding RFX (1);	0.341796	0.26193	N	0.025796	D	0.85212	0.5645	L	0.36672	1.1	0.58432	D	0.999995	D	0.76494	0.999	D	0.75020	0.985	D	0.84549	0.0643	10	0.59425	D	0.04	-7.4732	10.72	0.46034	0.0:0.7964:0.132:0.0716	.	60	Q2KHR2	RFX7_HUMAN	L	60;157;157	ENSP00000387504:V60L;ENSP00000313299:V157L;ENSP00000397644:V157L	ENSP00000313299:V157L	V	-	1	0	RFX7	54183093	1.000000	0.71417	0.968000	0.41197	0.982000	0.71751	6.052000	0.71080	0.791000	0.33826	0.557000	0.71058	GTC		0.393	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841		7	15	0	0	0	1	0	7	15				
MBL2	4153	broad.mit.edu	37	10	54530513	54530513	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr10:54530513C>T	ENST00000373968.3	-	2	285	c.221G>A	c.(220-222)gGa>gAa	p.G74E		NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	74	Collagen-like.				acute-phase response (GO:0006953)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|killing by host of symbiont cells (GO:0051873)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of viral process (GO:0048525)|opsonization (GO:0008228)|positive regulation of phagocytosis (GO:0050766)|response to oxidative stress (GO:0006979)	cell surface (GO:0009986)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium-dependent protein binding (GO:0048306)|mannose binding (GO:0005537)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						CCCCAACTTTCCAGGGGGGCC	0.522																																						ENST00000373968.3																			0				breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(220-222)gGa>gAa		mannose-binding lectin (protein C) 2, soluble							79.0	90.0	86.0					10																	54530513		2203	4300	6503	SO:0001583	missense	4153				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding	g.chr10:54530513C>T	AF360991	CCDS7247.1	10q11.2	2014-09-17	2011-02-02		ENSG00000165471	ENSG00000165471		"""Collectins"""	6922	protein-coding gene	gene with protein product		154545	"""mannose-binding lectin (protein C) 2, soluble (opsonic defect)"""	MBL		1675710, 1672848	Standard	NM_000242		Approved	COLEC1	uc001jjt.3	P11226	OTTHUMG00000150270	ENST00000373968.3:c.221G>A	10.37:g.54530513C>T	ENSP00000363079:p.Gly74Glu					MBL2_ENST00000493043.1_5'UTR	p.G74E	NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN			2	285	-			74			Collagen-like.		Q4VB12|Q4VB13|Q4VB14|Q5SQS3|Q86SI4|Q96KE4|Q96TF7|Q96TF8|Q96TF9	Missense_Mutation	SNP	ENST00000373968.3	37	c.221G>A	CCDS7247.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.105896	0.77096	.	.	ENSG00000165471	ENST00000373968	D	0.99619	-6.28	4.98	4.98	0.66077	.	0.000000	0.64402	D	0.000017	D	0.99843	0.9928	H	0.99516	4.605	0.49915	D	0.999834	D	0.89917	1.0	D	0.91635	0.999	D	0.96498	0.9369	10	0.87932	D	0	-14.0931	16.5462	0.84446	0.0:1.0:0.0:0.0	.	74	P11226	MBL2_HUMAN	E	74	ENSP00000363079:G74E	ENSP00000363079:G74E	G	-	2	0	MBL2	54200519	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	4.094000	0.57721	2.683000	0.91414	0.655000	0.94253	GGA		0.522	MBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048115.1	NM_000242		54	145	0	0	0	1	0	54	145				
CRIP2	1397	broad.mit.edu	37	14	105945517	105945517	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr14:105945517G>C	ENST00000329146.4	+	6	1175	c.462G>C	c.(460-462)gaG>gaC	p.E154D	CRIP2_ENST00000483017.3_Missense_Mutation_p.E228D|CRIP2_ENST00000548989.1_3'UTR	NM_001312.3	NP_001303.1	P52943	CRIP2_HUMAN	cysteine-rich protein 2	154	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)	cell cortex (GO:0005938)	zinc ion binding (GO:0008270)			lung(2)	2		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.235)		TGCGCTGCGAGCGCTGCGGGA	0.751																																						ENST00000329146.4																			0				lung(2)	2						c.(460-462)gaG>gaC		cysteine-rich protein 2							17.0	21.0	20.0					14																	105945517		2147	4218	6365	SO:0001583	missense	1397						zinc ion binding	g.chr14:105945517G>C		CCDS10003.1, CCDS59246.1	14q32.3	2008-08-11			ENSG00000182809	ENSG00000182809			2361	protein-coding gene	gene with protein product		601183				8843343, 10681529	Standard	NM_001312		Approved	CRP2, ESP1	uc031qqr.1	P52943	OTTHUMG00000029906	ENST00000329146.4:c.462G>C	14.37:g.105945517G>C	ENSP00000328521:p.Glu154Asp					CRIP2_ENST00000548989.1_3'UTR|CRIP2_ENST00000483017.3_Missense_Mutation_p.E228D	p.E154D	NM_001312.2	NP_001303.1	P52943	CRIP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.235)	6	1175	+		Melanoma(154;0.226)	154			LIM zinc-binding 2.		A1A4U1|B7Z6C0|E9PD13	Missense_Mutation	SNP	ENST00000329146.4	37	c.462G>C	CCDS10003.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	14.51|14.51	2.556797|2.556797	0.45590|0.45590	.|.	.|.	ENSG00000182809|ENSG00000182809	ENST00000550577;ENST00000538259|ENST00000483017;ENST00000329146	.|D;D	.|0.87571	.|-2.27;-2.27	3.7|3.7	3.7|3.7	0.42460|0.42460	.|Zinc finger, LIM-type (5);	.|0.000000	.|0.48286	.|U	.|0.000186	T|T	0.81828|0.81828	0.4905|0.4905	L|L	0.56396|0.56396	1.775|1.775	0.51767|0.51767	D|D	0.999935|0.999935	.|B;P;B	.|0.36616	.|0.316;0.561;0.097	.|B;B;B	.|0.35655	.|0.165;0.207;0.058	T|T	0.78023|0.78023	-0.2366|-0.2366	5|10	.|0.26408	.|T	.|0.33	-4.0011|-4.0011	8.2867|8.2867	0.31932|0.31932	0.1136:0.0:0.8864:0.0|0.1136:0.0:0.8864:0.0	.|.	.|228;154;154	.|B7Z6C0;Q53FN1;P52943	.|.;.;CRIP2_HUMAN	P|D	50;138|228;154	.|ENSP00000426119:E228D;ENSP00000328521:E154D	.|ENSP00000328521:E154D	A|E	+|+	1|3	0|2	CRIP2|CRIP2	105016562|105016562	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.872000|0.872000	0.50106|0.50106	3.487000|3.487000	0.53222|0.53222	1.902000|1.902000	0.55061|0.55061	0.282000|0.282000	0.19409|0.19409	GCG|GAG		0.751	CRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074597.3	NM_001312		8	46	0	0	0	1	0	8	46				
CSF2	1437	broad.mit.edu	37	5	131409573	131409573	+	Silent	SNP	C	C	T			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr5:131409573C>T	ENST00000296871.2	+	1	91	c.57C>T	c.(55-57)ccC>ccT	p.P19P		NM_000758.3	NP_000749.2	P04141	CSF2_HUMAN	colony stimulating factor 2 (granulocyte-macrophage)	19					cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|embryonic placenta development (GO:0001892)|epithelial fluid transport (GO:0042045)|immune response (GO:0006955)|macrophage activation (GO:0042116)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cytolysis (GO:0045918)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of podosome assembly (GO:0071803)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	granulocyte macrophage colony-stimulating factor receptor binding (GO:0005129)			skin(1)	1		all_cancers(142;4.28e-07)|all_lung(232;2.81e-05)|Lung NSC(810;0.000693)|Lung SC(612;0.122)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCTCTGCACCCGCCCGCTCGC	0.617																																						ENST00000296871.2																			0				skin(1)	1						c.(55-57)ccC>ccT		colony stimulating factor 2 (granulocyte-macrophage)	Sargramostim(DB00020)						31.0	35.0	33.0					5																	131409573		2203	4299	6502	SO:0001819	synonymous_variant	1437				immune response|negative regulation of cytolysis|positive regulation of DNA replication|positive regulation of interleukin-23 production|positive regulation of macrophage derived foam cell differentiation|positive regulation of podosome assembly|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|granulocyte macrophage colony-stimulating factor receptor binding|growth factor activity	g.chr5:131409573C>T	M11734	CCDS4150.1	5q23-q31	2012-10-02			ENSG00000164400	ENSG00000164400			2434	protein-coding gene	gene with protein product	"""sargramostim"", ""molgramostin"", ""granulocyte-macrophage colony stimulating factor"""	138960				3898082, 2999978	Standard	NM_000758		Approved	GM-CSF, GMCSF	uc003kwf.4	P04141	OTTHUMG00000059637	ENST00000296871.2:c.57C>T	5.37:g.131409573C>T							p.P19P	NM_000758.3	NP_000749.2	P04141	CSF2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		1	91	+		all_cancers(142;4.28e-07)|all_lung(232;2.81e-05)|Lung NSC(810;0.000693)|Lung SC(612;0.122)|Breast(839;0.198)	19					Q14CE8|Q2VPI8|Q8NFI6	Silent	SNP	ENST00000296871.2	37	c.57C>T	CCDS4150.1																																																																																				0.617	CSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132636.2	NM_000758		3	54	0	0	0	1	0	3	54				
COL4A2	1284	broad.mit.edu	37	13	111109707	111109707	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr13:111109707A>G	ENST00000360467.5	+	21	1663	c.1357A>G	c.(1357-1359)Aaa>Gaa	p.K453E	COL4A2-AS2_ENST00000458403.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	453	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GTTTGGGCTGAAAGGAGCAAA	0.632																																						ENST00000360467.5																			0				NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(1357-1359)Aaa>Gaa		collagen, type IV, alpha 2							68.0	74.0	72.0					13																	111109707		1912	4116	6028	SO:0001583	missense	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111109707A>G	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.1357A>G	13.37:g.111109707A>G	ENSP00000353654:p.Lys453Glu					COL4A2-AS2_ENST00000458403.2_RNA	p.K453E	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		21	1663	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	453			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	c.1357A>G	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	A	4.447	0.082785	0.08533	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.93547	-3.24	4.34	4.34	0.51931	.	0.000000	0.48286	D	0.000192	D	0.92977	0.7765	L	0.56199	1.76	0.34476	D	0.703351	D	0.63046	0.992	P	0.61722	0.893	D	0.91163	0.4962	10	0.06365	T	0.9	.	9.5873	0.39524	0.8433:0.0:0.0:0.1567	.	453	P08572	CO4A2_HUMAN	E	453	ENSP00000353654:K453E	ENSP00000257309:K453E	K	+	1	0	COL4A2	109907708	0.986000	0.35501	0.720000	0.30636	0.031000	0.12232	2.869000	0.48444	1.731000	0.51592	0.379000	0.24179	AAA		0.632	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		11	54	0	0	0	1	0	11	54				
CDH8	1006	broad.mit.edu	37	16	61687749	61687749	+	Silent	SNP	G	G	T			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr16:61687749G>T	ENST00000577390.1	-	12	3117	c.2163C>A	c.(2161-2163)gtC>gtA	p.V721V	CDH8_ENST00000577730.1_Intron|CDH8_ENST00000299345.6_Intron	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	721					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)	p.V721V(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TAAATTCATCGACATCAACAC	0.443																																						ENST00000577390.1																			1	Substitution - coding silent(1)	p.V721V(1)	large_intestine(1)	biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112						c.(2161-2163)gtC>gtA		cadherin 8, type 2							95.0	99.0	98.0					16																	61687749		2203	4300	6503	SO:0001819	synonymous_variant	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61687749G>T	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.2163C>A	16.37:g.61687749G>T						CDH8_ENST00000577730.1_Intron|CDH8_ENST00000299345.6_Intron	p.V721V	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	12	3117	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	721					B3KWC1|Q14DC6|Q9ULB2	Silent	SNP	ENST00000577390.1	37	c.2163C>A	CCDS10802.1																																																																																				0.443	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		29	149	1	0	1.08312e-15	1	1.13333e-15	29	149				
MUC16	94025	broad.mit.edu	37	19	9089401	9089401	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr19:9089401C>G	ENST00000397910.4	-	1	2617	c.2414G>C	c.(2413-2415)aGt>aCt	p.S805T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	805	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTGAGGACACTCCCTGCTGT	0.512																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(2413-2415)aGt>aCt		mucin 16, cell surface associated							231.0	222.0	225.0					19																	9089401		2047	4191	6238	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9089401C>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.2414G>C	19.37:g.9089401C>G	ENSP00000381008:p.Ser805Thr						p.S805T	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	2617	-			805			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.2414G>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	2.826	-0.243798	0.05906	.	.	ENSG00000181143	ENST00000397910	T	0.02552	4.25	1.56	1.56	0.23342	.	.	.	.	.	T	0.01156	0.0038	N	0.03608	-0.345	.	.	.	P	0.50710	0.938	B	0.32022	0.139	T	0.46034	-0.9220	8	0.87932	D	0	.	6.5643	0.22503	0.0:1.0:0.0:0.0	.	805	B5ME49	.	T	805	ENSP00000381008:S805T	ENSP00000381008:S805T	S	-	2	0	MUC16	8950401	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-1.046000	0.03525	1.175000	0.42826	0.205000	0.17691	AGT		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		93	184	0	0	0	1	0	93	184				
IL1RAPL1	11141	broad.mit.edu	37	X	29938151	29938151	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chrX:29938151T>C	ENST00000378993.1	+	8	1670	c.997T>C	c.(997-999)Tcc>Ccc	p.S333P	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.S333P	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	333	Ig-like C2-type 3.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						GGGAAATTACTCCTGTTATGT	0.423																																						ENST00000378993.1																			0				biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(997-999)Tcc>Ccc		interleukin 1 receptor accessory protein-like 1							180.0	149.0	159.0					X																	29938151		2202	4300	6502	SO:0001583	missense	11141				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chrX:29938151T>C	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.997T>C	X.37:g.29938151T>C	ENSP00000368278:p.Ser333Pro					IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.S333P	p.S333P	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN			8	1670	+			333			Ig-like C2-type 3.		A0AVG4|Q9UJ53	Missense_Mutation	SNP	ENST00000378993.1	37	c.997T>C	CCDS14218.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.128328	0.77549	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	T;T	0.14516	2.5;2.5	5.91	5.91	0.95273	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.28333	0.0700	L	0.56769	1.78	0.52501	D	0.999958	D	0.63046	0.992	P	0.61800	0.894	T	0.01456	-1.1350	9	.	.	.	.	10.5711	0.45200	0.1459:0.0:0.0:0.8541	.	333	Q9NZN1	IRPL1_HUMAN	P	333	ENSP00000368278:S333P;ENSP00000305200:S333P	.	S	+	1	0	IL1RAPL1	29848072	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.850000	0.69473	2.000000	0.58554	0.425000	0.28330	TCC		0.423	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		58	128	0	0	0	1	0	58	128				
FOLR4	390243	broad.mit.edu	37	11	94038838	94038838	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr11:94038838G>A	ENST00000440961.2	+	1	80	c.36G>A	c.(34-36)tgG>tgA	p.W12*		NM_001199206.1	NP_001186135.1	A6ND01	JUNO_HUMAN	folate receptor 4, delta (putative)	12					cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						TAGAGCTGTGGACAGTCATGC	0.577																																						ENST00000440961.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(34-36)tgG>tgA		folate receptor 4, delta (putative)							85.0	91.0	89.0					11																	94038838		2108	4227	6335	SO:0001587	stop_gained	390243					extracellular region	folic acid binding|receptor activity	g.chr11:94038838G>A			11q14	2014-07-23	2012-12-07		ENSG00000183560	ENSG00000183560			32565	protein-coding gene	gene with protein product		615737	"""folate receptor 4 (delta) homolog (mouse)"""			11111049, 24739963	Standard	NM_001199206		Approved	Folbp3, JUNO	uc021qou.1	A6ND01		ENST00000440961.2:c.36G>A	11.37:g.94038838G>A	ENSP00000416935:p.Trp12*						p.W12*	NM_001199206.1	NP_001186135.1	A6ND01	FOLR4_HUMAN			1	80	+			12						Nonsense_Mutation	SNP	ENST00000440961.2	37	c.36G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.33|13.33	2.205997|2.205997	0.39003|0.39003	.|.	.|.	ENSG00000183560|ENSG00000183560	ENST00000328458|ENST00000440961	.|.	.|.	.|.	4.43|4.43	3.52|3.52	0.40303|0.40303	.|.	.|0.647154	.|0.14999	.|N	.|0.286220	T|.	0.52403|.	0.1732|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.61262|.	-0.7098|.	3|.	.|.	.|.	.|.	-1.9568|-1.9568	10.1929|10.1929	0.43037|0.43037	0.0976:0.0:0.9024:0.0|0.0976:0.0:0.9024:0.0	.|.	.|.	.|.	.|.	E|X	6|12	.|.	.|.	G|W	+|+	2|3	0|0	FOLR4|FOLR4	93678486|93678486	0.996000|0.996000	0.38824|0.38824	0.010000|0.010000	0.14722|0.14722	0.002000|0.002000	0.02628|0.02628	2.510000|2.510000	0.45468|0.45468	1.224000|1.224000	0.43551|0.43551	0.561000|0.561000	0.74099|0.74099	GGA|TGG		0.577	FOLR4-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000396420.1	NM_001080486		12	161	0	0	0	1	0	12	161				
PRDM8	56978	broad.mit.edu	37	4	81121392	81121392	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr4:81121392A>G	ENST00000504452.1	+	6	997	c.158A>G	c.(157-159)gAc>gGc	p.D53G	PRDM8_ENST00000339711.4_Missense_Mutation_p.D53G|PRDM8_ENST00000415738.2_Missense_Mutation_p.D53G			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	53	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						TCCCTATATGACAGCATAGCT	0.443																																						ENST00000339711.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						c.(157-159)gAc>gGc		PR domain containing 8							157.0	155.0	155.0					4																	81121392		1990	4157	6147	SO:0001583	missense	56978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:81121392A>G	AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784			13993	protein-coding gene	gene with protein product							Standard	NM_020226		Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.158A>G	4.37:g.81121392A>G	ENSP00000423985:p.Asp53Gly					PRDM8_ENST00000415738.2_Missense_Mutation_p.D53G|PRDM8_ENST00000504452.1_Missense_Mutation_p.D53G	p.D53G	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN			8	1389	+			53			SET.		A8K7X2|Q6IQ36	Missense_Mutation	SNP	ENST00000504452.1	37	c.158A>G	CCDS43243.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.000533	0.74818	.	.	ENSG00000152784	ENST00000504452;ENST00000515013;ENST00000339711;ENST00000415738	T;T;T;T	0.68479	-0.33;0.3;-0.33;-0.33	5.44	5.44	0.79542	SET domain (1);	0.108661	0.64402	D	0.000013	T	0.59211	0.2177	L	0.28115	0.83	0.80722	D	1	P	0.48294	0.908	P	0.44422	0.449	T	0.65915	-0.6052	10	0.87932	D	0	.	15.3386	0.74280	1.0:0.0:0.0:0.0	.	53	Q9NQV8	PRDM8_HUMAN	G	53	ENSP00000423985:D53G;ENSP00000425149:D53G;ENSP00000339764:D53G;ENSP00000406998:D53G	ENSP00000339764:D53G	D	+	2	0	PRDM8	81340416	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.139000	0.94554	2.288000	0.76882	0.533000	0.62120	GAC		0.443	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1			48	183	0	0	0	1	0	48	183				
WNT9A	7483	broad.mit.edu	37	1	228113078	228113078	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr1:228113078C>G	ENST00000272164.5	-	2	248	c.238G>C	c.(238-240)Gag>Cag	p.E80Q		NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	80					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal system morphogenesis (GO:0048704)|iris morphogenesis (GO:0061072)|mitotic cell cycle checkpoint (GO:0007093)|multicellular organismal development (GO:0007275)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of smoothened signaling pathway (GO:0045880)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				ACCAGCGTCTCTGCCACGCCC	0.701																																						ENST00000272164.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19						c.(238-240)Gag>Cag		wingless-type MMTV integration site family, member 9A							16.0	17.0	17.0					1																	228113078		2200	4293	6493	SO:0001583	missense	7483				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity	g.chr1:228113078C>G	AB060283	CCDS31045.1	1q42	2008-02-05	2003-03-11	2003-03-14	ENSG00000143816	ENSG00000143816		"""Wingless-type MMTV integration sites"""	12778	protein-coding gene	gene with protein product		602863	"""wingless-type MMTV integration site family, member 14"""	WNT14		9441749	Standard	NM_003395		Approved		uc001hri.2	O14904	OTTHUMG00000037592	ENST00000272164.5:c.238G>C	1.37:g.228113078C>G	ENSP00000272164:p.Glu80Gln					WNT9A_ENST00000497852.1_5'UTR	p.E80Q	NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN			2	248	-		Prostate(94;0.0405)	80					A6NLW2|Q2M2J3|Q5VWU0|Q96S50	Missense_Mutation	SNP	ENST00000272164.5	37	c.238G>C	CCDS31045.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.456218	0.63401	.	.	ENSG00000143816	ENST00000272164	T	0.76448	-1.02	4.89	4.89	0.63831	.	0.054888	0.64402	D	0.000001	T	0.73697	0.3620	L	0.38175	1.15	0.48040	D	0.999576	B	0.22146	0.065	B	0.35607	0.206	T	0.67914	-0.5547	10	0.20519	T	0.43	.	17.13	0.86724	0.0:1.0:0.0:0.0	.	80	O14904	WNT9A_HUMAN	Q	80	ENSP00000272164:E80Q	ENSP00000272164:E80Q	E	-	1	0	WNT9A	226179701	1.000000	0.71417	0.946000	0.38457	0.663000	0.39108	5.941000	0.70195	2.290000	0.77057	0.485000	0.47835	GAG		0.701	WNT9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091646.1	NM_003395		8	24	0	0	0	1	0	8	24				
OR4B1	119765	broad.mit.edu	37	11	48238763	48238763	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr11:48238763C>G	ENST00000309562.2	+	1	420	c.402C>G	c.(400-402)atC>atG	p.I134M		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	134						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(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TGAACATTATCAGTCGTCAAC	0.463																																						ENST00000309562.2																			0				breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(400-402)atC>atG		olfactory receptor, family 4, subfamily B, member 1							110.0	105.0	107.0					11																	48238763		2201	4298	6499	SO:0001583	missense	119765				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48238763C>G	AB065848	CCDS31485.1	11p11.2	2012-08-09			ENSG00000175619	ENSG00000175619		"""GPCR / Class A : Olfactory receptors"""	8290	protein-coding gene	gene with protein product							Standard	NM_001005470		Approved	OST208	uc010rhs.2	Q8NGF8	OTTHUMG00000166576	ENST00000309562.2:c.402C>G	11.37:g.48238763C>G	ENSP00000311605:p.Ile134Met						p.I134M	NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN			1	420	+			134					Q6IF75|Q96R64	Missense_Mutation	SNP	ENST00000309562.2	37	c.402C>G	CCDS31485.1	.	.	.	.	.	.	.	.	.	.	C	0.188	-1.055615	0.01965	.	.	ENSG00000175619	ENST00000309562	T	0.00547	6.66	5.38	3.49	0.39957	GPCR, rhodopsin-like superfamily (1);	0.174514	0.40554	N	0.001068	T	0.00109	0.0003	N	0.00017	-2.84	0.28434	N	0.917109	B	0.02656	0.0	B	0.04013	0.001	T	0.36456	-0.9747	10	0.02654	T	1	.	8.9427	0.35740	0.0838:0.1528:0.7634:0.0	.	134	Q8NGF8	OR4B1_HUMAN	M	134	ENSP00000311605:I134M	ENSP00000311605:I134M	I	+	3	3	OR4B1	48195339	1.000000	0.71417	0.560000	0.28344	0.844000	0.47949	2.233000	0.43027	0.618000	0.30179	-0.488000	0.04728	ATC		0.463	OR4B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390554.1	NM_001005470		32	170	0	0	0	1	0	32	170				
MS4A12	54860	broad.mit.edu	37	11	60274258	60274258	+	Missense_Mutation	SNP	G	G	A	rs147008825	byFrequency	TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr11:60274258G>A	ENST00000016913.4	+	6	703	c.646G>A	c.(646-648)Gta>Ata	p.V216I	MS4A12_ENST00000537076.1_Missense_Mutation_p.V170I	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member 12	216						integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						GGAGTTCTTCGTAGCTTGTGC	0.423													A|||	5	0.000998403	0.003	0.0	5008	,	,		20408	0.0		0.001	False		,,,				2504	0.0					ENST00000016913.4																			0				breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						c.(646-648)Gta>Ata		membrane-spanning 4-domains, subfamily A, member 12		A	ILE/VAL,ILE/VAL	17,4389	824.5+/-416.5	0,17,2186	117.0	102.0	107.0		508,646	1.3	0.0	11	dbSNP_134	107	0,8600		0,0,4300	yes	missense,missense	MS4A12	NM_001164470.1,NM_017716.2	29,29	0,17,6486	AA,AG,GG		0.0,0.3858,0.1307	benign,benign	170/222,216/268	60274258	17,12989	2203	4300	6503	SO:0001583	missense	54860					integral to membrane	receptor activity	g.chr11:60274258G>A	AK000224	CCDS7988.1, CCDS53638.1	11q12	2008-03-25				ENSG00000071203			13370	protein-coding gene	gene with protein product		606550				11401424, 11486273	Standard	NM_017716		Approved	Ms4a10, FLJ20217	uc001npr.3	Q9NXJ0		ENST00000016913.4:c.646G>A	11.37:g.60274258G>A	ENSP00000016913:p.Val216Ile					MS4A12_ENST00000537076.1_Missense_Mutation_p.V170I	p.V216I	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN			6	703	+			216					F5GX98|Q8N6L4	Missense_Mutation	SNP	ENST00000016913.4	37	c.646G>A	CCDS7988.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	0.006	-2.075038	0.00379	0.003858	0.0	ENSG00000071203	ENST00000537076;ENST00000526784;ENST00000016913	T;T;T	0.02236	4.38;4.38;4.38	5.13	1.34	0.21922	.	0.700616	0.13805	N	0.361495	T	0.00724	0.0024	N	0.00996	-1.065	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46735	-0.9170	10	0.02654	T	1	-21.3558	4.7178	0.12903	0.5918:0.1532:0.2549:0.0	.	216	Q9NXJ0	M4A12_HUMAN	I	170;170;216	ENSP00000440424:V170I;ENSP00000431959:V170I;ENSP00000016913:V216I	ENSP00000016913:V216I	V	+	1	0	MS4A12	60030834	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.326000	0.19646	-0.194000	0.10399	-0.340000	0.08031	GTA		0.423	MS4A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383627.1			33	80	0	0	0	1	0	33	80				
UQCR10	29796	broad.mit.edu	37	22	30163518	30163518	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr22:30163518A>G	ENST00000330029.6	+	1	161	c.131A>G	c.(130-132)tAc>tGc	p.Y44C	ZMAT5_ENST00000397781.3_5'Flank|ZMAT5_ENST00000344318.3_5'Flank|UQCR10_ENST00000401406.3_Missense_Mutation_p.Y44C	NM_001003684.1|NM_013387.3	NP_001003684.1|NP_037519.2	Q9UDW1	QCR9_HUMAN	ubiquinol-cytochrome c reductase, complex III subunit X	44					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)	ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)	5						GACGCTATCTACGACCACATC	0.607																																						ENST00000330029.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)	5						c.(130-132)tAc>tGc		ubiquinol-cytochrome c reductase, complex III subunit X							37.0	42.0	41.0					22																	30163518		2000	4158	6158	SO:0001583	missense	29796				mitochondrial electron transport, ubiquinol to cytochrome c	mitochondrial inner membrane|respiratory chain	ubiquinol-cytochrome-c reductase activity	g.chr22:30163518A>G	AB028598	CCDS46680.1, CCDS46681.1	22q12.2	2011-07-04			ENSG00000184076	ENSG00000184076		"""Mitochondrial respiratory chain complex / Complex III"""	30863	protein-coding gene	gene with protein product	"""ubiquinol-cytochrome c reductase, complex III subunit X, 7.2kDa"", ""complex III subunit 9"""	610843				11042152	Standard	NM_013387		Approved	HSPC051, UCRC, QCR9, UCCR7.2	uc003agq.1	Q9UDW1	OTTHUMG00000151283	ENST00000330029.6:c.131A>G	22.37:g.30163518A>G	ENSP00000332887:p.Tyr44Cys					UQCR10_ENST00000401406.3_Missense_Mutation_p.Y44C	p.Y44C	NM_001003684.1|NM_013387.3	NP_001003684.1|NP_037519.2	Q9UDW1	QCR9_HUMAN			1	161	+			44					B5MCM5|Q9T2V6	Missense_Mutation	SNP	ENST00000330029.6	37	c.131A>G	CCDS46680.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.58|19.58	3.854711|3.854711	0.71719|0.71719	.|.	.|.	ENSG00000184076|ENSG00000184076	ENST00000332801|ENST00000330029;ENST00000401406;ENST00000406782	.|T;T	.|0.52057	.|0.68;0.68	5.73|5.73	4.68|4.68	0.58851|0.58851	.|.	0.168283|.	0.28555|.	N|.	0.014924|.	T|T	0.65375|0.65375	0.2685|0.2685	.|.	.|.	.|.	0.38349|0.38349	D|D	0.94427|0.94427	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.68192	.|0.956;0.912	T|T	0.70622|0.70622	-0.4821|-0.4821	6|8	0.87932|0.87932	D|D	0|0	-6.4562|-6.4562	9.0508|9.0508	0.36374|0.36374	0.8362:0.0:0.0:0.1638|0.8362:0.0:0.0:0.1638	.|.	.|44;44	.|Q9UDW1;Q9UDW1-2	.|QCR9_HUMAN;.	A|C	44|44	.|ENSP00000332887:Y44C;ENSP00000384962:Y44C	ENSP00000333278:T44A|ENSP00000332887:Y44C	T|Y	+|+	1|2	0|0	UQCR10|UQCR10	28493518|28493518	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.832000|0.832000	0.47134|0.47134	2.354000|2.354000	0.44098|0.44098	0.981000|0.981000	0.38548|0.38548	0.456000|0.456000	0.33151|0.33151	ACG|TAC		0.607	UQCR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322081.1	NM_013387		11	60	0	0	0	1	0	11	60				
MPHOSPH9	10198	broad.mit.edu	37	12	123678974	123678974	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr12:123678974T>C	ENST00000606320.1	-	13	2406	c.2200A>G	c.(2200-2202)Aaa>Gaa	p.K734E	MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.K704E|MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.K582E|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.K582E			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	734						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		TGAGCTTCTTTATCATCTGAG	0.308																																						ENST00000606320.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33						c.(2200-2202)Aaa>Gaa		M-phase phosphoprotein 9							166.0	150.0	155.0					12																	123678974		2202	4299	6501	SO:0001583	missense	10198				M phase of mitotic cell cycle	centriole|Golgi membrane		g.chr12:123678974T>C	X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.2200A>G	12.37:g.123678974T>C	ENSP00000475489:p.Lys734Glu					MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.K582E|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.K582E|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.K704E	p.K734E			Q99550	MPP9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)	13	2406	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		582					A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Missense_Mutation	SNP	ENST00000606320.1	37	c.2200A>G		.	.	.	.	.	.	.	.	.	.	T	20.3	3.969287	0.74246	.	.	ENSG00000051825	ENST00000302349;ENST00000541076	T;T	0.78364	-1.17;-1.17	5.67	5.67	0.87782	.	0.296553	0.32563	N	0.005937	D	0.85919	0.5809	M	0.66939	2.045	0.45354	D	0.99834	D	0.69078	0.997	D	0.66196	0.942	D	0.85973	0.1478	10	0.45353	T	0.12	-26.6707	15.9204	0.79562	0.0:0.0:0.0:1.0	.	582	Q99550	MPP9_HUMAN	E	582	ENSP00000303597:K582E;ENSP00000445859:K582E	ENSP00000303597:K582E	K	-	1	0	MPHOSPH9	122244927	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	6.374000	0.73132	2.164000	0.68074	0.533000	0.62120	AAA		0.308	MPHOSPH9-030	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000471390.2			20	32	0	0	0	1	0	20	32				
ZNF407	55628	broad.mit.edu	37	18	72775721	72775721	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr18:72775721G>C	ENST00000299687.5	+	8	6044	c.6044G>C	c.(6043-6045)gGc>gCc	p.G2015A		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	2015					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GGCAGGCCCGGCGCCAAAGAC	0.677																																						ENST00000299687.5																			0				central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67						c.(6043-6045)gGc>gCc		zinc finger protein 407							17.0	22.0	21.0					18																	72775721		2093	4210	6303	SO:0001583	missense	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72775721G>C	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.6044G>C	18.37:g.72775721G>C	ENSP00000299687:p.Gly2015Ala						p.G2015A	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	8	6044	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	2015					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	c.6044G>C	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	G	2.597	-0.293789	0.05568	.	.	ENSG00000215421	ENST00000299687	T	0.09911	2.93	4.7	3.83	0.44106	.	.	.	.	.	T	0.10723	0.0262	L	0.54323	1.7	0.09310	N	0.999998	P	0.37061	0.58	B	0.32211	0.142	T	0.19910	-1.0291	9	0.66056	D	0.02	.	7.6546	0.28369	0.2544:0.0:0.7456:0.0	.	2015	Q9C0G0	ZN407_HUMAN	A	2015	ENSP00000299687:G2015A	ENSP00000299687:G2015A	G	+	2	0	ZNF407	70904709	0.000000	0.05858	0.020000	0.16555	0.016000	0.09150	0.769000	0.26604	0.967000	0.38186	0.561000	0.74099	GGC		0.677	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		6	31	0	0	0	1	0	6	31				
ZNF143	7702	broad.mit.edu	37	11	9519288	9519288	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr11:9519288A>C	ENST00000396602.2	+	10	1027	c.908A>C	c.(907-909)aAt>aCt	p.N303T	ZNF143_ENST00000396604.1_Missense_Mutation_p.N302T|ZNF143_ENST00000299606.2_Missense_Mutation_p.N275T|ZNF143_ENST00000530463.1_Missense_Mutation_p.N302T|ZNF143_ENST00000396597.3_Missense_Mutation_p.N272T	NM_001282656.1|NM_001282657.1|NM_003442.5	NP_001269585.1|NP_001269586.1|NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	303					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		TCGGAAGATAATTGTACTAAA	0.308																																						ENST00000396602.2																			0				endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13						c.(907-909)aAt>aCt		zinc finger protein 143							68.0	71.0	70.0					11																	9519288		2201	4294	6495	SO:0001583	missense	7702				regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding	g.chr11:9519288A>C	U09850	CCDS7799.2, CCDS60720.1, CCDS60721.1	11p15.4	2013-01-08	2006-06-13		ENSG00000166478	ENSG00000166478		"""Zinc fingers, C2H2-type"""	12928	protein-coding gene	gene with protein product		603433	"""zinc finger protein 143 (clone pHZ-1)"""				Standard	NM_003442		Approved	SBF, pHZ-1, STAF	uc001mhr.3	P52747	OTTHUMG00000149922	ENST00000396602.2:c.908A>C	11.37:g.9519288A>C	ENSP00000379847:p.Asn303Thr					ZNF143_ENST00000299606.2_Missense_Mutation_p.N275T|ZNF143_ENST00000396597.3_Missense_Mutation_p.N272T|ZNF143_ENST00000396604.1_Missense_Mutation_p.N302T|ZNF143_ENST00000530463.1_Missense_Mutation_p.N302T	p.N303T	NM_003442.5	NP_003433.3	P52747	ZN143_HUMAN		all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)	10	1027	+			303					A8K518|B4DLY5|E7ER34|O75559|Q8WUK9	Missense_Mutation	SNP	ENST00000396602.2	37	c.908A>C	CCDS7799.2	.	.	.	.	.	.	.	.	.	.	A	11.90	1.777583	0.31502	.	.	ENSG00000166478	ENST00000396604;ENST00000396602;ENST00000530463;ENST00000396597;ENST00000299606	T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31	5.52	4.4	0.53042	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.064043	0.64402	D	0.000006	T	0.19127	0.0459	N	0.04090	-0.28	0.58432	D	0.999996	B;B;B	0.31413	0.275;0.322;0.322	B;B;B	0.33392	0.101;0.163;0.163	T	0.08371	-1.0725	10	0.40728	T	0.16	.	11.1239	0.48306	0.9278:0.0:0.0722:0.0	.	272;302;303	P52747-2;E7ER34;P52747	.;.;ZN143_HUMAN	T	302;303;302;272;275	ENSP00000379849:N302T;ENSP00000379847:N303T;ENSP00000432154:N302T;ENSP00000379843:N272T;ENSP00000299606:N275T	ENSP00000299606:N275T	N	+	2	0	ZNF143	9475864	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.063000	0.71162	0.942000	0.37525	0.528000	0.53228	AAT		0.308	ZNF143-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313921.2	NM_003442		36	81	0	0	0	1	0	36	81				
CEACAM19	56971	broad.mit.edu	37	19	45176219	45176219	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr19:45176219C>T	ENST00000403660.3	+	2	617	c.407C>T	c.(406-408)aCt>aTt	p.T136I	CEACAM19_ENST00000480278.1_3'UTR|CEACAM19_ENST00000358777.4_Missense_Mutation_p.T136I|CTB-171A8.1_ENST00000590796.1_RNA			Q7Z692	CEA19_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 19	136						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	11	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)				AAGGCCAAGACTGAGGTCCAG	0.552																																						ENST00000358777.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	11						c.(406-408)aCt>aTt		carcinoembryonic antigen-related cell adhesion molecule 19							77.0	68.0	71.0					19																	45176219		2203	4300	6503	SO:0001583	missense	56971					integral to membrane		g.chr19:45176219C>T	AF406955	CCDS12641.1, CCDS46108.1	19q13.31	2013-01-11			ENSG00000186567	ENSG00000186567		"""Immunoglobulin superfamily / V-set domain containing"""	31951	protein-coding gene	gene with protein product		606691					Standard	NM_020219		Approved	CEAL1	uc002ozo.4	Q7Z692	OTTHUMG00000151528	ENST00000403660.3:c.407C>T	19.37:g.45176219C>T	ENSP00000384887:p.Thr136Ile					CEACAM19_ENST00000480278.1_3'UTR|CEACAM19_ENST00000403660.3_Missense_Mutation_p.T136I|CTB-171A8.1_ENST00000590796.1_RNA	p.T136I	NM_001127893.1|NM_020219.3	NP_001121365.1|NP_064604.2	Q7Z692	CEA19_HUMAN			2	887	+	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)	136					Q5XJ15|Q7Z693	Missense_Mutation	SNP	ENST00000403660.3	37	c.407C>T	CCDS12641.1	.	.	.	.	.	.	.	.	.	.	C	2.787	-0.252111	0.05829	.	.	ENSG00000186567	ENST00000358777;ENST00000403660	T;T	0.70749	-0.51;-0.51	3.92	2.87	0.33458	Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.178649	0.26944	N	0.021719	T	0.60157	0.2247	L	0.43701	1.375	0.21652	N	0.9996	P;P	0.42078	0.77;0.77	B;B	0.44108	0.441;0.441	T	0.47235	-0.9133	10	0.18276	T	0.48	-12.2082	6.531	0.22326	0.0:0.8629:0.0:0.1371	.	136;136	Q5XJ15;Q7Z692	.;CEA19_HUMAN	I	136	ENSP00000351627:T136I;ENSP00000384887:T136I	ENSP00000351627:T136I	T	+	2	0	CEACAM19	49868059	0.523000	0.26274	0.512000	0.27736	0.553000	0.35397	0.717000	0.25851	0.840000	0.34995	0.555000	0.69702	ACT		0.552	CEACAM19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323022.1	NM_020219		40	32	0	0	0	1	0	40	32				
FLT4	2324	broad.mit.edu	37	5	180047675	180047675	+	Silent	SNP	G	G	C			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr5:180047675G>C	ENST00000261937.6	-	16	2418	c.2340C>G	c.(2338-2340)gtC>gtG	p.V780V	FLT4_ENST00000424276.2_5'Flank|FLT4_ENST00000502649.1_Silent_p.V780V|FLT4_ENST00000393347.3_Silent_p.V780V	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	780					blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CGCCGGTACCGACAAGGATCA	0.592																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2338-2340)gtC>gtG		fms-related tyrosine kinase 4	Sorafenib(DB00398)|Sunitinib(DB01268)						132.0	134.0	133.0					5																	180047675		2202	4300	6502	SO:0001819	synonymous_variant	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180047675G>C	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.2340C>G	5.37:g.180047675G>C						FLT4_ENST00000502649.1_Silent_p.V780V|FLT4_ENST00000393347.3_Silent_p.V780V	p.V780V	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	16	2418	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	780					A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Silent	SNP	ENST00000261937.6	37	c.2340C>G	CCDS4457.1																																																																																				0.592	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			7	60	0	0	0	1	0	7	60				
CUL9	23113	broad.mit.edu	37	6	43152296	43152296	+	Missense_Mutation	SNP	G	G	A	rs371301456		TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr6:43152296G>A	ENST00000252050.4	+	2	332	c.248G>A	c.(247-249)cGg>cAg	p.R83Q	CUL9_ENST00000354495.3_Missense_Mutation_p.R83Q|CUL9_ENST00000372647.2_Missense_Mutation_p.R83Q	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	83					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TTAGGTGAGCGGGCACTATCT	0.572																																						ENST00000252050.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						c.(247-249)cGg>cAg		cullin 9							113.0	114.0	114.0					6																	43152296		2203	4300	6503	SO:0001583	missense	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43152296G>A	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.248G>A	6.37:g.43152296G>A	ENSP00000252050:p.Arg83Gln					CUL9_ENST00000354495.3_Missense_Mutation_p.R83Q|CUL9_ENST00000372647.2_Missense_Mutation_p.R83Q	p.R83Q	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN			2	332	+			83					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	c.248G>A	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.157302	0.38119	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.75050	-0.9;-0.9;-0.79	4.05	1.16	0.20824	.	0.436373	0.19152	N	0.121424	T	0.34745	0.0908	L	0.29908	0.895	0.21147	N	0.999779	B;B;B	0.24092	0.002;0.006;0.097	B;B;B	0.14578	0.001;0.001;0.011	T	0.25433	-1.0132	10	0.72032	D	0.01	-3.1078	2.3423	0.04263	0.1689:0.1525:0.5209:0.1576	.	83;83;83	E9PEZ1;Q8IWT3;Q05C85	.;CUL9_HUMAN;.	Q	83	ENSP00000252050:R83Q;ENSP00000346490:R83Q;ENSP00000361730:R83Q	ENSP00000252050:R83Q	R	+	2	0	CUL9	43260274	1.000000	0.71417	0.007000	0.13788	0.768000	0.43524	3.305000	0.51873	0.110000	0.17919	0.467000	0.42956	CGG		0.572	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		33	93	0	0	0	1	0	33	93				
POLQ	10721	broad.mit.edu	37	3	121151849	121151849	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr3:121151849C>T	ENST00000264233.5	-	29	7703	c.7575G>A	c.(7573-7575)atG>atA	p.M2525I		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2525					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TTGGGCAGAACATCCCTTGCA	0.403								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	ENST00000264233.5																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(7573-7575)atG>atA	DNA polymerases (catalytic subunits)	polymerase (DNA directed), theta							134.0	127.0	129.0					3																	121151849		2203	4300	6503	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121151849C>T	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.7575G>A	3.37:g.121151849C>T	ENSP00000264233:p.Met2525Ile						p.M2525I	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	29	7703	-			2525					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.7575G>A	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.914235	0.33815	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.47177	0.85	6.07	3.94	0.45596	DNA-directed DNA polymerase, family A, palm domain (2);	0.640085	0.18052	N	0.153259	T	0.27629	0.0679	N	0.08118	0	0.24996	N	0.991501	B;B	0.12630	0.005;0.006	B;B	0.12837	0.008;0.007	T	0.18935	-1.0321	10	0.52906	T	0.07	.	10.2188	0.43184	0.0:0.7735:0.1425:0.084	.	2525;1697	O75417;O75417-2	DPOLQ_HUMAN;.	I	2148;2525;2661	ENSP00000264233:M2525I	ENSP00000264233:M2525I	M	-	3	0	POLQ	122634539	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.050000	0.30404	1.538000	0.49270	0.655000	0.94253	ATG		0.403	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		6	53	0	0	0	1	0	6	53				
ZP4	57829	broad.mit.edu	37	1	238049138	238049138	+	Silent	SNP	G	G	A			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr1:238049138G>A	ENST00000366570.4	-	7	1046	c.888C>T	c.(886-888)atC>atT	p.I296I	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	296	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)	p.I296I(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CCTGGACATTGATTGGGAGAG	0.512																																					NSCLC(166;160 2029 11600 18754 19936)	ENST00000366570.4																			1	Substitution - coding silent(1)	p.I296I(1)	breast(1)	breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(886-888)atC>atT		zona pellucida glycoprotein 4							169.0	162.0	164.0					1																	238049138		2203	4300	6503	SO:0001819	synonymous_variant	57829				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	g.chr1:238049138G>A	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.888C>T	1.37:g.238049138G>A						RP11-193H5.1_ENST00000450451.1_RNA	p.I296I	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		7	1046	-	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	296			ZP.		B2RAE1	Silent	SNP	ENST00000366570.4	37	c.888C>T	CCDS1615.1																																																																																				0.512	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1			14	83	0	0	0	1	0	14	83				
BCR	613	broad.mit.edu	37	22	23613769	23613769	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr22:23613769C>G	ENST00000305877.8	+	6	2662	c.1911C>G	c.(1909-1911)aaC>aaG	p.N637K	BCR_ENST00000359540.3_Missense_Mutation_p.N637K	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	637	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	CGACCAAGAACTCTCTGGAAA	0.532			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""																																	ENST00000305877.8				Dom	yes		22	22q11.21	613	T	breakpoint cluster region			L	"""ABL1,  FGFR1, JAK2 """		"""CML, ALL, AML"""	BCR/JAK2(6)	0				central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						c.(1909-1911)aaC>aaG		breakpoint cluster region							120.0	89.0	100.0					22																	23613769		2203	4300	6503	SO:0001583	missense	613				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr22:23613769C>G		CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.1911C>G	22.37:g.23613769C>G	ENSP00000303507:p.Asn637Lys					BCR_ENST00000359540.3_Missense_Mutation_p.N637K	p.N637K	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN			6	2662	+			637			DH.		P78501|Q12842|Q4LE80|Q6NZI3	Missense_Mutation	SNP	ENST00000305877.8	37	c.1911C>G	CCDS13806.1	.	.	.	.	.	.	.	.	.	.	C	3.258	-0.151726	0.06585	.	.	ENSG00000186716	ENST00000305877;ENST00000359540;ENST00000334149;ENST00000427791	T;T;T	0.62639	0.01;0.01;0.01	5.34	0.914	0.19360	Dbl homology (DH) domain (5);	0.142232	0.64402	D	0.000009	T	0.45975	0.1369	L	0.36672	1.1	0.80722	D	1	B;B;B;B	0.17465	0.001;0.01;0.003;0.022	B;B;B;B	0.22152	0.005;0.021;0.01;0.038	T	0.19128	-1.0315	10	0.30078	T	0.28	.	6.8869	0.24208	0.0:0.5466:0.0:0.4534	.	226;302;637;637	B4E065;Q12843;P11274-2;P11274	.;.;.;BCR_HUMAN	K	637;637;302;121	ENSP00000303507:N637K;ENSP00000352535:N637K;ENSP00000396531:N121K	ENSP00000303507:N637K	N	+	3	2	BCR	21943769	1.000000	0.71417	0.992000	0.48379	0.031000	0.12232	1.018000	0.30002	0.341000	0.23771	-0.140000	0.14226	AAC		0.532	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075819.1	NM_004327		13	59	0	0	0	1	0	13	59				
IGF1R	3480	broad.mit.edu	37	15	99500523	99500523	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr15:99500523G>C	ENST00000268035.6	+	21	4567	c.3956G>C	c.(3955-3957)aGa>aCa	p.R1319T	RP11-654A16.3_ENST00000559468.1_RNA|IGF1R_ENST00000558762.1_Missense_Mutation_p.R1318T	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	1319					axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	CTGCCCGACAGACACTCAGGA	0.687																																						ENST00000268035.6																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(3955-3957)aGa>aCa		insulin-like growth factor 1 receptor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						35.0	40.0	38.0					15																	99500523		2197	4297	6494	SO:0001583	missense	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99500523G>C	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.3956G>C	15.37:g.99500523G>C	ENSP00000268035:p.Arg1319Thr					RP11-654A16.3_ENST00000559468.1_RNA|IGF1R_ENST00000558762.1_Missense_Mutation_p.R1318T	p.R1319T	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		21	4567	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		1319					B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	37	c.3956G>C	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.737494	0.49045	.	.	ENSG00000140443	ENST00000268035	T	0.75704	-0.96	5.26	4.23	0.50019	.	0.310318	0.26761	N	0.022629	T	0.49474	0.1559	N	0.08118	0	0.28449	N	0.916448	B;B	0.14805	0.003;0.011	B;B	0.12837	0.006;0.008	T	0.34825	-0.9813	10	0.59425	D	0.04	.	3.4051	0.07338	0.3787:0.0:0.6213:0.0	.	1318;1319	C9J5X1;P08069	.;IGF1R_HUMAN	T	1319	ENSP00000268035:R1319T	ENSP00000268035:R1319T	R	+	2	0	IGF1R	97318046	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	3.710000	0.54860	2.457000	0.83068	0.557000	0.71058	AGA		0.687	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		6	35	0	0	0	1	0	6	35				
C5	727	broad.mit.edu	37	9	123742403	123742403	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr9:123742403G>A	ENST00000223642.1	-	28	3645	c.3616C>T	c.(3616-3618)Cgt>Tgt	p.R1206C		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1206					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	ACAATTGAACGAAACTGTGGG	0.408																																						ENST00000223642.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(3616-3618)Cgt>Tgt		complement component 5	Eculizumab(DB01257)						127.0	120.0	123.0					9																	123742403		2203	4300	6503	SO:0001583	missense	727				activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity	g.chr9:123742403G>A	M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"""Complement system"", ""Endogenous ligands"""	1331	protein-coding gene	gene with protein product	"""prepro-C5"", ""C5a anaphylatoxin"""	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.3616C>T	9.37:g.123742403G>A	ENSP00000223642:p.Arg1206Cys						p.R1206C	NM_001735.2	NP_001726.2	P01031	CO5_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	28	3645	-			1206					Q14CJ0|Q27I61	Missense_Mutation	SNP	ENST00000223642.1	37	c.3616C>T	CCDS6826.1	.	.	.	.	.	.	.	.	.	.	G	10.50	1.368286	0.24771	.	.	ENSG00000106804	ENST00000223642	T	0.34072	1.38	5.13	3.3	0.37823	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	1.213490	0.05792	N	0.610596	T	0.38585	0.1046	M	0.71581	2.175	0.09310	N	0.999999	B	0.15141	0.012	B	0.06405	0.002	T	0.29822	-0.9999	10	0.38643	T	0.18	.	6.161	0.20364	0.1601:0.0:0.6919:0.148	.	1206	P01031	CO5_HUMAN	C	1206	ENSP00000223642:R1206C	ENSP00000223642:R1206C	R	-	1	0	C5	122782224	0.184000	0.23200	0.190000	0.23270	0.945000	0.59286	2.257000	0.43240	0.573000	0.29400	-0.122000	0.15005	CGT		0.408	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735		29	77	0	0	0	1	0	29	77				
PLEC	5339	broad.mit.edu	37	8	144990713	144990713	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr8:144990713G>A	ENST00000322810.4	-	32	13856	c.13687C>T	c.(13687-13689)Cgt>Tgt	p.R4563C	PLEC_ENST00000357649.2_Missense_Mutation_p.R4430C|PLEC_ENST00000436759.2_Missense_Mutation_p.R4453C|PLEC_ENST00000356346.3_Missense_Mutation_p.R4412C|PLEC_ENST00000398774.2_Missense_Mutation_p.R4394C|PLEC_ENST00000527096.1_Missense_Mutation_p.R4449C|PLEC_ENST00000354589.3_Missense_Mutation_p.R4426C|PLEC_ENST00000345136.3_Missense_Mutation_p.R4426C|PLEC_ENST00000354958.2_Missense_Mutation_p.R4404C	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4563	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCCACGTCACGCAGCTTCTGT	0.682																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(13687-13689)Cgt>Tgt		plectin							67.0	71.0	70.0					8																	144990713		2024	4156	6180	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144990713G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.13687C>T	8.37:g.144990713G>A	ENSP00000323856:p.Arg4563Cys					PLEC_ENST00000527096.1_Missense_Mutation_p.R4449C|PLEC_ENST00000357649.2_Missense_Mutation_p.R4430C|PLEC_ENST00000354589.3_Missense_Mutation_p.R4426C|PLEC_ENST00000356346.3_Missense_Mutation_p.R4412C|PLEC_ENST00000436759.2_Missense_Mutation_p.R4453C|PLEC_ENST00000354958.2_Missense_Mutation_p.R4404C|PLEC_ENST00000398774.2_Missense_Mutation_p.R4394C|PLEC_ENST00000345136.3_Missense_Mutation_p.R4426C	p.R4563C	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	13856	-			4563			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.13687C>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	5.874	0.345396	0.11126	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73	5.05	5.05	0.67936	.	0.000000	0.64402	U	0.000012	T	0.81346	0.4803	L	0.50333	1.59	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.999	T	0.82944	-0.0206	10	0.87932	D	0	.	18.2089	0.89864	0.0:0.0:1.0:0.0	.	4453;4412;4404;4563;4394;4426;4430;4426	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	C	4426;4430;4426;4394;4563;4404;4412;4453;4449	ENSP00000344848:R4426C;ENSP00000350277:R4430C;ENSP00000346602:R4426C;ENSP00000381756:R4394C;ENSP00000323856:R4563C;ENSP00000347044:R4404C;ENSP00000348702:R4412C;ENSP00000388180:R4453C;ENSP00000434583:R4449C	ENSP00000323856:R4563C	R	-	1	0	PLEC	145062701	0.962000	0.33011	0.984000	0.44739	0.345000	0.29048	2.227000	0.42972	2.606000	0.88127	0.643000	0.83706	CGT		0.682	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		5	225	0	0	0	1	0	5	225				
LEFTY2	7044	broad.mit.edu	37	1	226127198	226127198	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr1:226127198C>G	ENST00000366820.5	-	3	948	c.600G>C	c.(598-600)caG>caC	p.Q200H	LEFTY2_ENST00000474493.1_5'UTR|LEFTY2_ENST00000420304.2_Missense_Mutation_p.Q166H|RP4-559A3.6_ENST00000513672.1_RNA	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2	200					blood coagulation (GO:0007596)|cell growth (GO:0016049)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|platelet alpha granule lumen (GO:0031093)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					GCACCGACACCTGTAGCAGCA	0.716																																					Colon(172;116 2643 9098 43333)	ENST00000366820.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16						c.(598-600)caG>caC		left-right determination factor 2							10.0	14.0	12.0					1																	226127198		2129	4156	6285	SO:0001583	missense	7044				cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding	g.chr1:226127198C>G	U81523	CCDS1549.1, CCDS53479.1	1q42.1	2008-07-18	2004-11-17	2004-11-17	ENSG00000143768	ENSG00000143768			3122	protein-coding gene	gene with protein product	"""transforming growth factor, beta-4 (endometrial bleeding-associated factor; LEFTY A)"""	601877	"""endometrial bleeding associated factor (left-right determination, factor A; transforming growth factor beta superfamily)"""	TGFB4, EBAF		9153275	Standard	NM_001172425		Approved	LEFTA, LEFTYA	uc001hpt.2	O00292	OTTHUMG00000037441	ENST00000366820.5:c.600G>C	1.37:g.226127198C>G	ENSP00000355785:p.Gln200His					LEFTY2_ENST00000474493.1_5'UTR|LEFTY2_ENST00000420304.2_Missense_Mutation_p.Q166H	p.Q200H	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN			3	948	-	Breast(184;0.197)		200					B3KNH4|B4E332|E9PDM4|O75611|Q5TE89|Q8NBQ9	Missense_Mutation	SNP	ENST00000366820.5	37	c.600G>C	CCDS1549.1	.	.	.	.	.	.	.	.	.	.	c	15.22	2.770152	0.49680	.	.	ENSG00000143768	ENST00000420304;ENST00000366820	T;T	0.67171	-0.25;-0.25	4.47	2.4	0.29515	Transforming growth factor-beta, N-terminal (1);	0.173242	0.49305	D	0.000155	T	0.75708	0.3886	M	0.73598	2.24	0.38759	D	0.954284	D;D	0.57571	0.975;0.98	P;P	0.57425	0.766;0.82	T	0.79181	-0.1909	10	0.87932	D	0	.	11.8275	0.52275	0.0:0.7988:0.1246:0.0766	.	166;200	E9PDM4;O00292	.;LFTY2_HUMAN	H	166;200	ENSP00000388009:Q166H;ENSP00000355785:Q200H	ENSP00000355785:Q200H	Q	-	3	2	LEFTY2	224193821	1.000000	0.71417	1.000000	0.80357	0.094000	0.18550	1.461000	0.35255	0.441000	0.26529	-1.134000	0.01955	CAG		0.716	LEFTY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091152.1	NM_003240		7	33	0	0	0	1	0	7	33				
LILRA1	11024	broad.mit.edu	37	19	55106741	55106741	+	Missense_Mutation	SNP	C	C	T	rs201483250		TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr19:55106741C>T	ENST00000251372.3	+	5	717	c.535C>T	c.(535-537)Cgg>Tgg	p.R179W	LILRA1_ENST00000453777.1_Missense_Mutation_p.R179W|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_3'UTR	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	179	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TGGGTGGTCCCGGGCCATCTT	0.567													c|||	1	0.000199681	0.0008	0.0	5008	,	,		20224	0.0		0.0	False		,,,				2504	0.0					ENST00000453777.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47						c.(535-537)Cgg>Tgg		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1		C	TRP/ARG	0,4406		0,0,2203	160.0	160.0	160.0		535	-2.4	0.0	19		160	1,8599	1.2+/-3.3	0,1,4299	yes	missense	LILRA1	NM_006863.1	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	179/490	55106741	1,13005	2203	4300	6503	SO:0001583	missense	11024				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	g.chr19:55106741C>T	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.535C>T	19.37:g.55106741C>T	ENSP00000251372:p.Arg179Trp					LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRA1_ENST00000251372.3_Missense_Mutation_p.R179W|LILRB1_ENST00000448689.1_Intron	p.R179W	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN		GBM - Glioblastoma multiforme(193;0.0348)	5	705	+			179			Ig-like C2-type 2.		O75018|Q3MJA6	Missense_Mutation	SNP	ENST00000251372.3	37	c.535C>T	CCDS12901.1	.	.	.	.	.	.	.	.	.	.	C	7.311	0.615017	0.14129	0.0	1.16E-4	ENSG00000104974	ENST00000251372;ENST00000453777	T;T	0.03152	4.03;4.03	2.24	-2.37	0.06643	Immunoglobulin-like fold (1);	0.909878	0.09242	N	0.829125	T	0.01730	0.0055	N	0.10664	0.02	0.09310	N	1	B;B	0.24092	0.097;0.008	B;B	0.18263	0.021;0.006	T	0.45920	-0.9228	10	0.42905	T	0.14	.	2.5799	0.04816	0.2209:0.4659:0.0:0.3131	.	179;179	O75019-2;O75019	.;LIRA1_HUMAN	W	179	ENSP00000251372:R179W;ENSP00000413715:R179W	ENSP00000251372:R179W	R	+	1	2	LILRA1	59798553	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.847000	0.04331	-0.237000	0.09739	-1.050000	0.02344	CGG		0.567	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		4	170	0	0	0	1	0	4	170				
DCX	1641	broad.mit.edu	37	X	110644391	110644391	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chrX:110644391G>A	ENST00000338081.3	-	3	946	c.775C>T	c.(775-777)Cgc>Tgc	p.R259C	DCX_ENST00000496551.1_5'UTR|DCX_ENST00000356220.3_Missense_Mutation_p.R178C|DCX_ENST00000488120.1_Missense_Mutation_p.R178C|DCX_ENST00000371993.2_Missense_Mutation_p.R178C|DCX_ENST00000356915.2_Missense_Mutation_p.R178C	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	259			R -> C (in SBHX). {ECO:0000269|PubMed:12390976}.|R -> L (in SBHX).		axon extension (GO:0048675)|axon guidance (GO:0007411)|brain development (GO:0007420)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neuron migration (GO:0001764)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuron projection (GO:0043005)	microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)	p.R178C(1)|p.R259C(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						AGCTTGGGGCGCACAAAGTCC	0.537																																						ENST00000338081.3																			2	Substitution - Missense(2)	p.R178C(1)|p.R259C(1)	kidney(2)	breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41	GRCh37	CM023910	DCX	M		c.(775-777)Cgc>Tgc		doublecortin							128.0	105.0	113.0					X																	110644391		2203	4300	6503	SO:0001583	missense	1641				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding	g.chrX:110644391G>A	AF040254	CCDS14556.1, CCDS14557.1, CCDS14558.1	Xq22.3-q23	2008-08-01	2008-08-01		ENSG00000077279	ENSG00000077279			2714	protein-coding gene	gene with protein product	"""doublecortex"""	300121	"""doublecortex; lissencephaly, X-linked (doublecortin)"""			9489699, 9489700	Standard	NM_178151		Approved	SCLH, DC, LISX, DBCN, XLIS	uc004epd.3	O43602	OTTHUMG00000022204	ENST00000338081.3:c.775C>T	X.37:g.110644391G>A	ENSP00000337697:p.Arg259Cys					DCX_ENST00000496551.1_5'UTR|DCX_ENST00000371993.2_Missense_Mutation_p.R178C|DCX_ENST00000356220.3_Missense_Mutation_p.R178C|DCX_ENST00000488120.1_Missense_Mutation_p.R178C|DCX_ENST00000356915.2_Missense_Mutation_p.R178C	p.R259C	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN			3	946	-			259		R -> C (in SBHX).|R -> L (in SBHX).			A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Missense_Mutation	SNP	ENST00000338081.3	37	c.775C>T	CCDS14556.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.679772	0.88542	.	.	ENSG00000077279	ENST00000356915;ENST00000371993;ENST00000338081;ENST00000356220;ENST00000488120	D;D;D;D;D	0.93953	-3.32;-3.32;-3.32;-3.32;-3.32	4.74	4.74	0.60224	Doublecortin domain (3);	0.131721	0.50627	D	0.000104	D	0.95592	0.8567	L	0.59436	1.845	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.66351	0.943;0.917	D	0.96124	0.9087	10	0.72032	D	0.01	.	17.6068	0.88040	0.0:0.0:1.0:0.0	.	247;259	B4DM53;O43602	.;DCX_HUMAN	C	178;178;259;178;178	ENSP00000349385:R178C;ENSP00000361061:R178C;ENSP00000337697:R259C;ENSP00000348553:R178C;ENSP00000419861:R178C	ENSP00000337697:R259C	R	-	1	0	DCX	110531047	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.624000	0.74243	2.283000	0.76528	0.600000	0.82982	CGC		0.537	DCX-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357058.1	NM_178153		4	164	0	0	0	1	0	4	164				
ADAM21P1	145241	broad.mit.edu	37	14	70713352	70713352	+	RNA	SNP	C	C	T			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr14:70713352C>T	ENST00000530196.1	-	0	1166					NR_003951.1				ADAM metallopeptidase domain 21 pseudogene 1																		TATGACCTAACTCATGGGCCA	0.418																																						ENST00000530196.1																			0																																																			0							g.chr14:70713352C>T			14q24.2	2014-03-25	2010-01-12	2010-01-12	ENSG00000235812	ENSG00000235812			19822	pseudogene	pseudogene			"""a disintegrin and metalloproteinase domain 21 pseudogene"", ""ADAM metallopeptidase domain 21 pseudogene"""	ADAM21P			Standard	NR_003951		Approved		uc010ttg.2		OTTHUMG00000166565		14.37:g.70713352C>T								NR_003951.1						0	1166	-									RNA	SNP	ENST00000530196.1	37																																																																																						0.418	ADAM21P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390451.1	NG_002467		104	349	0	0	0	1	0	104	349				
DNAH9	1770	broad.mit.edu	37	17	11607666	11607666	+	Silent	SNP	C	C	T			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr17:11607666C>T	ENST00000262442.4	+	25	5366	c.5298C>T	c.(5296-5298)ggC>ggT	p.G1766G	DNAH9_ENST00000454412.2_Silent_p.G1766G	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1766	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGCTGATTGGCCAGCTCTCCA	0.512																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(5296-5298)ggC>ggT		dynein, axonemal, heavy chain 9							102.0	96.0	98.0					17																	11607666		2203	4300	6503	SO:0001819	synonymous_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11607666C>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.5298C>T	17.37:g.11607666C>T						DNAH9_ENST00000454412.2_Silent_p.G1766G	p.G1766G	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	25	5366	+		Breast(5;0.0122)|all_epithelial(5;0.131)	1766			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	c.5298C>T	CCDS11160.1																																																																																				0.512	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		6	115	0	0	0	1	0	6	115				
IGHMBP2	3508	broad.mit.edu	37	11	68682348	68682348	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr11:68682348C>G	ENST00000255078.3	+	6	880	c.769C>G	c.(769-771)Ctg>Gtg	p.L257V	IGHMBP2_ENST00000539224.1_3'UTR	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	257	Leu-rich.				ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GCGCCTGGCTCTGTGTAAGCA	0.592																																						ENST00000255078.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(769-771)Ctg>Gtg		immunoglobulin mu binding protein 2							95.0	90.0	92.0					11																	68682348		2200	4294	6494	SO:0001583	missense	3508				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding	g.chr11:68682348C>G	L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"""Zinc fingers, AN1-type domain containing"""	5542	protein-coding gene	gene with protein product	"""cardiac transcription factor 1"", ""zinc finger, AN1-type domain 7"""	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.769C>G	11.37:g.68682348C>G	ENSP00000255078:p.Leu257Val					IGHMBP2_ENST00000539224.1_3'UTR	p.L257V	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		6	880	+			257			Leu-rich.		A0PJD2|Q00443|Q14177	Missense_Mutation	SNP	ENST00000255078.3	37	c.769C>G	CCDS8187.1	.	.	.	.	.	.	.	.	.	.	C	3.751	-0.051574	0.07362	.	.	ENSG00000132740	ENST00000255078	D	0.82984	-1.67	3.6	2.58	0.30949	DEAD-like helicase (1);Helicase/UvrB domain (1);ATPase, AAA+ type, core (1);	1.268860	0.05289	N	0.520664	T	0.70422	0.3222	N	0.16656	0.425	0.09310	N	0.999999	B	0.09022	0.002	B	0.15870	0.014	T	0.57015	-0.7883	10	0.30078	T	0.28	-4.5644	6.3404	0.21319	0.1819:0.4911:0.327:0.0	.	257	P38935	SMBP2_HUMAN	V	257	ENSP00000255078:L257V	ENSP00000255078:L257V	L	+	1	2	IGHMBP2	68438924	0.000000	0.05858	0.035000	0.18076	0.886000	0.51366	0.726000	0.25984	2.017000	0.59298	0.555000	0.69702	CTG		0.592	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396862.1	NM_002180		33	162	0	0	0	1	0	33	162				
PPAPDC1A	196051	broad.mit.edu	37	10	122334784	122334784	+	Missense_Mutation	SNP	G	G	A	rs372039666		TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr10:122334784G>A	ENST00000398250.1	+	6	939	c.587G>A	c.(586-588)cGc>cAc	p.R196H	PPAPDC1A_ENST00000398248.1_Intron|PPAPDC1A_ENST00000496437.1_3'UTR|PPAPDC1A_ENST00000439221.1_Missense_Mutation_p.R133H|PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.R196H|PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.R186H	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	196	Phosphatase sequence motif III.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phospholipid dephosphorylation (GO:0046839)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		GCCCTGTCCCGCATGTGCGAC	0.607																																						ENST00000398250.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20						c.(586-588)cGc>cAc		phosphatidic acid phosphatase type 2 domain containing 1A		G	HIS/ARG	0,4278		0,0,2139	71.0	72.0	72.0		587	5.5	1.0	10		72	1,8479		0,1,4239	no	missense	PPAPDC1A	NM_001030059.1	29	0,1,6378	AA,AG,GG		0.0118,0.0,0.0078	probably-damaging	196/272	122334784	1,12757	2139	4240	6379	SO:0001583	missense	196051				phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity	g.chr10:122334784G>A	AK098668	CCDS41573.1	10q26.13	2008-02-05		2005-07-15	ENSG00000203805	ENSG00000203805			23531	protein-coding gene	gene with protein product			"""phosphatidic acid phosphatase type 2 domain containing 1"""	PPAPDC1			Standard	XM_005269592		Approved		uc001lev.1	Q5VZY2	OTTHUMG00000019168	ENST00000398250.1:c.587G>A	10.37:g.122334784G>A	ENSP00000381302:p.Arg196His					PPAPDC1A_ENST00000439221.1_Missense_Mutation_p.R133H|PPAPDC1A_ENST00000496437.1_3'UTR|PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.R186H|PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.R196H|PPAPDC1A_ENST00000398248.1_Intron	p.R196H	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN		all cancers(201;0.0117)	6	939	+		Lung NSC(174;0.1)|all_lung(145;0.132)	196			Phosphatase sequence motif III.		A2RU82|Q08EQ2|Q0IIP2|Q495B4|Q5VZY1	Missense_Mutation	SNP	ENST00000398250.1	37	c.587G>A	CCDS41573.1	.	.	.	.	.	.	.	.	.	.	G	33	5.265634	0.95399	0.0	1.18E-4	ENSG00000203805	ENST00000439221;ENST00000398250;ENST00000427079;ENST00000541332;ENST00000369073	D;D;D;D;D	0.94000	-2.01;-3.33;-3.33;-3.33;-3.33	5.5	5.5	0.81552	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.047948	0.85682	D	0.000000	D	0.98077	0.9366	H	0.96889	3.9	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.993	D	0.99184	1.0868	10	0.87932	D	0	-16.0404	19.3885	0.94566	0.0:0.0:1.0:0.0	.	196;133;196	B7Z3R3;Q5VZY2-2;Q5VZY2	.;.;PPC1A_HUMAN	H	133;196;196;196;186	ENSP00000403508:R133H;ENSP00000381302:R196H;ENSP00000407979:R196H;ENSP00000440493:R196H;ENSP00000358069:R186H	ENSP00000358069:R186H	R	+	2	0	PPAPDC1A	122324774	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.785000	0.99042	2.570000	0.86706	0.655000	0.94253	CGC		0.607	PPAPDC1A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_113641		4	90	0	0	0	1	0	4	90				
MUC5B	727897	broad.mit.edu	37	11	1269713	1269713	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr11:1269713C>G	ENST00000529681.1	+	31	11661	c.11603C>G	c.(11602-11604)aCc>aGc	p.T3868S	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.T3871S	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3868	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GTGCCGACTACCACAACCACG	0.637																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(11611-11613)aCc>aGc		mucin 5B, oligomeric mucus/gel-forming							119.0	141.0	133.0					11																	1269713		2091	4208	6299	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1269713C>G	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.11603C>G	11.37:g.1269713C>G	ENSP00000436812:p.Thr3868Ser					MUC5B_ENST00000529681.1_Missense_Mutation_p.T3868S|RP11-532E4.2_ENST00000532061.2_RNA	p.T3871S			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	11670	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	3868			11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.11612C>G	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	10.56	1.384175	0.25031	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.27402	1.67;1.84	2.25	2.25	0.28309	.	.	.	.	.	T	0.33731	0.0873	M	0.77103	2.36	0.22253	N	0.999257	B;B	0.29862	0.259;0.259	B;B	0.19666	0.026;0.026	T	0.34129	-0.9841	9	0.87932	D	0	.	11.4435	0.50110	0.0:1.0:0.0:0.0	.	4396;3871	A7Y9J9;E9PBJ0	.;.	S	3868;3871;3812;3773	ENSP00000436812:T3868S;ENSP00000415793:T3871S	ENSP00000343037:T3812S	T	+	2	0	MUC5B	1226289	0.000000	0.05858	0.012000	0.15200	0.104000	0.19210	0.277000	0.18734	1.288000	0.44600	0.194000	0.17425	ACC		0.637	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		22	134	0	0	0	1	0	22	134				
CTSG	1511	broad.mit.edu	37	14	25043978	25043978	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr14:25043978C>G	ENST00000216336.2	-	3	278	c.242G>C	c.(241-243)aGa>aCa	p.R81T		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	81	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|defense response to fungus (GO:0050832)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|negative regulation of growth of symbiont in host (GO:0044130)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|positive regulation of immune response (GO:0050778)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	heparin binding (GO:0008201)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		GTTTTCCCGTCTCTGGATATT	0.527																																						ENST00000216336.2																			0				autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25						c.(241-243)aGa>aCa		cathepsin G							175.0	147.0	156.0					14																	25043978		2203	4300	6503	SO:0001583	missense	1511				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	g.chr14:25043978C>G	M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"""Cathepsins"", ""Endogenous ligands"""	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.242G>C	14.37:g.25043978C>G	ENSP00000216336:p.Arg81Thr						p.R81T	NM_001911.2	NP_001902.1	P08311	CATG_HUMAN		GBM - Glioblastoma multiforme(265;0.0269)	3	278	-			81			Peptidase S1.		Q6IBJ6|Q9UCA5|Q9UCU6	Missense_Mutation	SNP	ENST00000216336.2	37	c.242G>C	CCDS9631.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.799456	0.31869	.	.	ENSG00000100448	ENST00000216336	D	0.88818	-2.43	5.14	-3.38	0.04883	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.899723	0.09137	N	0.843579	T	0.71264	0.3319	N	0.04787	-0.16	0.09310	N	1	B	0.12013	0.005	B	0.27076	0.076	T	0.58787	-0.7575	10	0.30078	T	0.28	.	1.1501	0.01784	0.1299:0.2705:0.2551:0.3445	.	81	P08311	CATG_HUMAN	T	81	ENSP00000216336:R81T	ENSP00000216336:R81T	R	-	2	0	CTSG	24113818	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.714000	0.05002	-0.492000	0.06687	-0.150000	0.13652	AGA		0.527	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276536.2	NM_001911		22	126	0	0	0	1	0	22	126				
LENG8	114823	broad.mit.edu	37	19	54963363	54963363	+	Silent	SNP	G	G	A			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr19:54963363G>A	ENST00000326764.5	+	3	611	c.132G>A	c.(130-132)caG>caA	p.Q44Q	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	0										breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		AGGCCCGTCAGGCCCTGGCCA	0.642																																						ENST00000326764.5																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(130-132)caG>caA		leukocyte receptor cluster (LRC) member 8							54.0	56.0	55.0					19																	54963363		2203	4300	6503	SO:0001819	synonymous_variant	114823						protein binding	g.chr19:54963363G>A	AF211975	CCDS12894.1	19q13.4	2008-02-05			ENSG00000167615	ENSG00000167615			15500	protein-coding gene	gene with protein product						10941842	Standard	XM_005278248		Approved	KIAA1932, MGC40108, pp13842	uc002qfw.2	Q96PV6	OTTHUMG00000065548	ENST00000326764.5:c.132G>A	19.37:g.54963363G>A						LENG8_ENST00000376514.2_Intron	p.Q44Q	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN		GBM - Glioblastoma multiforme(193;0.139)	3	611	+	Ovarian(34;0.19)		44					B0VJY9|Q8IZ27|Q8NCX6	Silent	SNP	ENST00000326764.5	37	c.132G>A	CCDS12894.1																																																																																				0.642	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140523.2	NM_052925		6	57	0	0	0	1	0	6	57				
SIAH1	6477	broad.mit.edu	37	16	48399314	48399314	+	Intron	SNP	C	C	T			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr16:48399314C>T	ENST00000394725.2	-	2	247				SIAH1_ENST00000380006.2_5'Flank|SIAH1_ENST00000356721.3_Silent_p.R25R|SIAH1_ENST00000573005.1_5'UTR	NM_003031.3	NP_003022.3	Q8IUQ4	SIAH1_HUMAN	siah E3 ubiquitin protein ligase 1						anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell cycle (GO:0007049)|nervous system development (GO:0007399)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein catabolic process (GO:0030163)|protein destabilization (GO:0031648)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	beta-catenin destruction complex (GO:0030877)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)				TCTTCCTTGTCCTGGCCGCTG	0.498																																						ENST00000356721.3																			0				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7						c.(73-75)agG>agA		siah E3 ubiquitin protein ligase 1							197.0	150.0	166.0					16																	48399314		2200	4300	6500	SO:0001627	intron_variant	6477				axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	beta-catenin destruction complex|cytosol|nucleus	protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:48399314C>T	U76247	CCDS10735.1, CCDS32444.1	16q12.1	2013-06-03	2012-02-23		ENSG00000196470	ENSG00000196470			10857	protein-coding gene	gene with protein product		602212	"""seven in absentia homolog 1 (Drosophila)"""			9403064, 9334332	Standard	NM_001006610		Approved	hSIAH1	uc002efo.1	Q8IUQ4	OTTHUMG00000175417	ENST00000394725.2:c.2-2973G>A	16.37:g.48399314C>T						SIAH1_ENST00000394725.2_Intron|SIAH1_ENST00000573005.1_5'UTR	p.R25R	NM_001006610.1	NP_001006611.1	Q8IUQ4	SIAH1_HUMAN			1	498	-		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)	0					A0FKF3|O43269|Q49A58|Q92880	Silent	SNP	ENST00000394725.2	37	c.75G>A	CCDS10735.1																																																																																				0.498	SIAH1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256841.1			5	41	0	0	0	1	0	5	41				
CCZ1B	221960	broad.mit.edu	37	7	6844658	6844658	+	Silent	SNP	G	G	A			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr7:6844658G>A	ENST00000316731.8	-	12	1589	c.1017C>T	c.(1015-1017)tgC>tgT	p.C339C	CCZ1B_ENST00000538180.1_Silent_p.C196C	NM_198097.3	NP_932765.1	P86790	CCZ1B_HUMAN	CCZ1 vacuolar protein trafficking and biogenesis associated homolog B (S. cerevisiae)	339						lysosome (GO:0005764)|membrane (GO:0016020)											CCAGTCTTCGGCAAAAATCCA	0.458																																						ENST00000316731.8																			0											c.(1015-1017)tgC>tgT		CCZ1 vacuolar protein trafficking and biogenesis associated homolog B (S. cerevisiae)							53.0	49.0	51.0					7																	6844658		2014	3913	5927	SO:0001819	synonymous_variant	221960					lysosomal membrane		g.chr7:6844658G>A	BC010130	CCDS5354.1	7p22.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000146574	ENSG00000146574			21717	protein-coding gene	gene with protein product	"""similar to CGI-43 protein"""		"""chromosome 7 open reading frame 28B"""	C7orf28B		12477932	Standard	NM_198097		Approved	DKFZP586I1023, H_NH0577018.2, MGC19819	uc003sqx.2	P86790	OTTHUMG00000152441	ENST00000316731.8:c.1017C>T	7.37:g.6844658G>A						CCZ1B_ENST00000538180.1_Silent_p.C196C	p.C339C	NM_198097.3	NP_932765.1	P86790	CCZ1L_HUMAN			12	1589	-			339					A2RU45|O95766|Q9UG65|Q9Y359	Silent	SNP	ENST00000316731.8	37	c.1017C>T	CCDS5354.1																																																																																				0.458	CCZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246858.1	NM_198097		4	184	0	0	0	1	0	4	184				
MSH3	4437	broad.mit.edu	37	5	80064755	80064755	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr5:80064755A>G	ENST00000265081.6	+	15	2266	c.2186A>G	c.(2185-2187)cAt>cGt	p.H729R		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	729					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		ATCCGAATGCATTTGCAAGAA	0.328								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)	ENST00000265081.6																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(2185-2187)cAt>cGt	Mismatch excision repair (MMR)	mutS homolog 3							79.0	80.0	80.0					5																	80064755		2203	4299	6502	SO:0001583	missense	4437				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding	g.chr5:80064755A>G	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.2186A>G	5.37:g.80064755A>G	ENSP00000265081:p.His729Arg						p.H729R	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)	15	2266	+		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)	729					A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Missense_Mutation	SNP	ENST00000265081.6	37	c.2186A>G	CCDS34195.1	.	.	.	.	.	.	.	.	.	.	A	13.80	2.344509	0.41498	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	D	0.89270	-2.49	4.51	3.29	0.37713	DNA mismatch repair protein MutS, clamp (1);DNA mismatch repair protein MutS, core (3);	0.047359	0.85682	N	0.000000	D	0.89876	0.6842	M	0.88310	2.945	0.32668	N	0.51716	B	0.25351	0.124	B	0.31337	0.128	D	0.88064	0.2796	9	.	.	.	-14.133	10.1588	0.42838	0.9176:0.0:0.0824:0.0	.	729	P20585	MSH3_HUMAN	R	729;720	ENSP00000265081:H729R	.	H	+	2	0	MSH3	80100511	1.000000	0.71417	0.975000	0.42487	0.786000	0.44442	6.548000	0.73896	0.623000	0.30267	0.477000	0.44152	CAT		0.328	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439		16	116	0	0	0	1	0	16	116				
S1PR4	8698	broad.mit.edu	37	19	3179151	3179151	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr19:3179151C>T	ENST00000246115.3	+	1	416	c.361C>T	c.(361-363)Cgg>Tgg	p.R121W	S1PR4_ENST00000591346.1_Intron	NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	121					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						GTGGTTCCTACGGGAGGGCCT	0.701																																					GBM(82;318 1638 33279 49708)	ENST00000246115.3																			0				breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						c.(361-363)Cgg>Tgg		sphingosine-1-phosphate receptor 4							29.0	31.0	30.0					19																	3179151		2182	4266	6448	SO:0001583	missense	8698				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	g.chr19:3179151C>T	AJ000479	CCDS12105.1	19p13.3	2012-08-08	2008-04-30	2008-04-30		ENSG00000125910		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	3170	protein-coding gene	gene with protein product		603751	"""endothelial differentiation, G-protein-coupled receptor 6"", ""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 6"""	EDG6		9790765	Standard	NM_003775		Approved		uc002lxg.3	O95977		ENST00000246115.3:c.361C>T	19.37:g.3179151C>T	ENSP00000246115:p.Arg121Trp					S1PR4_ENST00000591346.1_Intron	p.R121W	NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN			1	416	+			121					D6W612	Missense_Mutation	SNP	ENST00000246115.3	37	c.361C>T	CCDS12105.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.282042	0.59867	.	.	ENSG00000125910	ENST00000246115	T	0.36878	1.23	3.85	2.78	0.32641	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.56920	0.2018	M	0.82132	2.575	0.53688	D	0.999979	D	0.89917	1.0	D	0.97110	1.0	T	0.57745	-0.7758	10	0.87932	D	0	.	7.7978	0.29158	0.1848:0.6361:0.1791:0.0	.	121	O95977	S1PR4_HUMAN	W	121	ENSP00000246115:R121W	ENSP00000246115:R121W	R	+	1	2	S1PR4	3130151	0.318000	0.24598	0.975000	0.42487	0.810000	0.45777	0.376000	0.20535	0.704000	0.31869	0.462000	0.41574	CGG		0.701	S1PR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452517.1	NM_003775		24	95	0	0	0	1	0	24	95				
KIAA1549	57670	broad.mit.edu	37	7	138603381	138603381	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr7:138603381G>C	ENST00000422774.1	-	2	1039	c.991C>G	c.(991-993)Caa>Gaa	p.Q331E	KIAA1549_ENST00000242365.4_Missense_Mutation_p.Q281E|KIAA1549_ENST00000440172.1_Missense_Mutation_p.Q331E			Q9HCM3	K1549_HUMAN	KIAA1549	331						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TCTAGGCTTTGACTCAACACA	0.517			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	ENST00000440172.1				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(703)	0				large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						c.(991-993)Caa>Gaa		KIAA1549							163.0	173.0	170.0					7																	138603381		2117	4233	6350	SO:0001583	missense	57670					integral to membrane		g.chr7:138603381G>C		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.991C>G	7.37:g.138603381G>C	ENSP00000416040:p.Gln331Glu					KIAA1549_ENST00000242365.4_Missense_Mutation_p.Q281E|KIAA1549_ENST00000422774.1_Missense_Mutation_p.Q331E	p.Q331E	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN			2	1039	-			331					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	c.991C>G	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	G	4.450	0.083238	0.08533	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.21543	2.0;2.0;2.01	4.42	1.5	0.22942	.	1.906560	0.02761	N	0.118606	T	0.12135	0.0295	N	0.14661	0.345	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.08055	0.001;0.003	T	0.25537	-1.0129	10	0.02654	T	1	.	8.6265	0.33892	0.0:0.3287:0.5125:0.1589	.	331;331	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	E	331;281;331	ENSP00000406661:Q331E;ENSP00000242365:Q281E;ENSP00000416040:Q331E	ENSP00000242365:Q281E	Q	-	1	0	KIAA1549	138253921	0.001000	0.12720	0.000000	0.03702	0.028000	0.11728	0.700000	0.25601	0.110000	0.17919	-0.234000	0.12200	CAA		0.517	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			32	163	0	0	0	1	0	32	163				
ADRA2C	152	broad.mit.edu	37	4	3769015	3769015	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr4:3769015C>G	ENST00000330055.5	+	1	891	c.682C>G	c.(682-684)Ctg>Gtg	p.L228V	ADRA2C_ENST00000509482.1_Missense_Mutation_p.L228V	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	228					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|platelet activation (GO:0030168)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of vasoconstriction (GO:0045907)|regulation of insulin secretion (GO:0050796)|regulation of sensory perception of pain (GO:0051930)|small molecule metabolic process (GO:0044281)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Fenoldopam(DB00800)|Iloperidone(DB04946)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CATCATGGGCCTGGTCTACGC	0.697																																					Esophageal Squamous(12;454 628 4517 14479)	ENST00000330055.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						c.(682-684)Ctg>Gtg		adrenoceptor alpha 2C	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)						16.0	17.0	17.0					4																	3769015		2170	4272	6442	SO:0001583	missense	152				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity	g.chr4:3769015C>G	AY455666	CCDS47004.1	4p16.3	2013-10-22	2012-05-09		ENSG00000184160	ENSG00000184160		"""GPCR / Class A : Adrenoceptors : alpha"""	283	protein-coding gene	gene with protein product		104250	"""adrenergic, alpha-2C-, receptor"""	ADRA2L2, ADRA2RL2		1849485	Standard	NM_000683		Approved	ADRARL2	uc003ghm.3	P18825	OTTHUMG00000159830	ENST00000330055.5:c.682C>G	4.37:g.3769015C>G	ENSP00000386069:p.Leu228Val					ADRA2C_ENST00000509482.1_Missense_Mutation_p.L228V	p.L228V	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	1	891	+			228					P35369|Q9HB49	Missense_Mutation	SNP	ENST00000330055.5	37	c.682C>G	CCDS47004.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.052702	0.55218	.	.	ENSG00000184160	ENST00000509482;ENST00000330055	T;T	0.35421	1.31;1.31	3.93	3.08	0.35506	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.43787	0.1263	L	0.42632	1.34	0.47407	D	0.999418	D;D	0.69078	0.997;0.997	D;D	0.70227	0.968;0.955	T	0.23226	-1.0194	9	0.33141	T	0.24	.	5.7028	0.17891	0.0:0.6499:0.0:0.3501	.	228;228	D6RGL0;P18825	.;ADA2C_HUMAN	V	228	ENSP00000426268:L228V;ENSP00000386069:L228V	ENSP00000386069:L228V	L	+	1	2	ADRA2C	3738813	0.988000	0.35896	1.000000	0.80357	0.995000	0.86356	1.077000	0.30741	0.631000	0.30412	0.511000	0.50034	CTG		0.697	ADRA2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357607.1	NM_000683		3	21	0	0	0	1	0	3	21				
FOXD1	2297	broad.mit.edu	37	5	72743502	72743502	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr5:72743502G>C	ENST00000499003.3	-	1	850	c.686C>G	c.(685-687)cCc>cGc	p.P229R	RP11-79P5.2_ENST00000514661.1_lincRNA|FOXD1_ENST00000513595.1_5'Flank	NM_004472.2	NP_004463.1	Q16676	FOXD1_HUMAN	forkhead box D1	229					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in ureteric bud branching (GO:0060678)|metanephric capsule development (GO:0072213)|metanephric capsule specification (GO:0072267)|metanephric nephron development (GO:0072210)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme development (GO:0072076)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of gene expression (GO:0010628)|positive regulation of kidney development (GO:0090184)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|lung(2)	4		Lung NSC(167;0.00327)|Ovarian(174;0.0175)|Prostate(461;0.151)		OV - Ovarian serous cystadenocarcinoma(47;1.07e-54)		cgcggcgttgggtgggagcag	0.761																																						ENST00000499003.3																			0				endometrium(1)|kidney(1)|lung(2)	4						c.(685-687)cCc>cGc		forkhead box D1							8.0	11.0	10.0					5																	72743502		1811	3663	5474	SO:0001583	missense	2297				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|metanephric capsule specification|negative regulation of transcription, DNA-dependent|neural crest cell migration|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system 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.chr5:72743502G>C	U59831	CCDS75259.1	5q13.2	2014-06-04			ENSG00000251493	ENSG00000251493		"""Forkhead boxes"""	3802	protein-coding gene	gene with protein product		601091		FKHL8		7957066, 8825632	Standard	NM_004472		Approved	FREAC4	uc003kcp.3	Q16676	OTTHUMG00000162495	ENST00000499003.3:c.686C>G	5.37:g.72743502G>C	ENSP00000462795:p.Pro229Arg						p.P229R	NM_004472.2	NP_004463.1	Q16676	FOXD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.07e-54)	1	850	-		Lung NSC(167;0.00327)|Ovarian(174;0.0175)|Prostate(461;0.151)	229					Q12949	Missense_Mutation	SNP	ENST00000499003.3	37	c.686C>G																																																																																					0.761	FOXD1-001	KNOWN	sequence_error|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000369154.2	NM_004472		6	24	0	0	0	1	0	6	24				
IL1RL1	9173	broad.mit.edu	37	2	102956584	102956584	+	Missense_Mutation	SNP	C	C	T	rs141061248		TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr2:102956584C>T	ENST00000233954.1	+	4	570	c.299C>T	c.(298-300)gCg>gTg	p.A100V	IL1RL1_ENST00000473175.1_3'UTR|IL1RL1_ENST00000409584.1_Missense_Mutation_p.A100V|IL1RL1_ENST00000311734.2_Missense_Mutation_p.A100V|IL1RL1_ENST00000404917.2_5'UTR|IL1RL1_ENST00000393393.3_Missense_Mutation_p.A100V	NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	100	Ig-like C2-type 1.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of macrophage activation (GO:0043032)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|interleukin-1 receptor activity (GO:0004908)|interleukin-33 receptor activity (GO:0002114)|receptor signaling protein activity (GO:0005057)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						ACTGGATATGCGAATGTCACC	0.299																																						ENST00000311734.2																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						c.(298-300)gCg>gTg		interleukin 1 receptor-like 1		C	VAL/ALA,VAL/ALA	3,4401	4.2+/-10.8	0,3,2199	59.0	57.0	58.0		299,299	0.4	0.0	2	dbSNP_134	58	0,8598		0,0,4299	no	missense,missense	IL1RL1	NM_003856.2,NM_016232.4	64,64	0,3,6498	TT,TC,CC		0.0,0.0681,0.0231	benign,benign	100/329,100/557	102956584	3,12999	2202	4299	6501	SO:0001583	missense	9173				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity	g.chr2:102956584C>T	D12764	CCDS2057.1, CCDS2058.1, CCDS74548.1	2q12	2013-01-29			ENSG00000115602	ENSG00000115602		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5998	protein-coding gene	gene with protein product	"""homolog of mouse growth stimulation-expressed"""	601203				1482686, 10191101, 16286016	Standard	NM_016232		Approved	ST2, FIT-1, ST2L, ST2V, DER4, T1, IL33R	uc002tbu.1	Q01638	OTTHUMG00000130782	ENST00000233954.1:c.299C>T	2.37:g.102956584C>T	ENSP00000233954:p.Ala100Val					IL1RL1_ENST00000393393.3_Missense_Mutation_p.A100V|IL1RL1_ENST00000409584.1_Missense_Mutation_p.A100V|IL1RL1_ENST00000233954.1_Missense_Mutation_p.A100V|IL1RL1_ENST00000404917.2_5'UTR|IL1RL1_ENST00000473175.1_3'UTR	p.A100V			Q01638	ILRL1_HUMAN			4	638	+			100			Ig-like C2-type 1.		A8K6B3|B4E0I3|Q53TU7|Q8NEJ3|Q9ULV7|Q9UQ44	Missense_Mutation	SNP	ENST00000233954.1	37	c.299C>T	CCDS2057.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.836409	0.00579	6.81E-4	0.0	ENSG00000115602	ENST00000233954;ENST00000393393;ENST00000311734;ENST00000409584	T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33	5.67	0.39	0.16275	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.590250	0.17697	N	0.165044	T	0.19805	0.0476	N	0.00128	-2.045	0.09310	N	0.999999	B;B	0.15141	0.01;0.012	B;B	0.12156	0.002;0.007	T	0.43829	-0.9367	10	0.02654	T	1	.	8.4634	0.32942	0.0:0.2592:0.0:0.7408	.	100;100	Q01638-2;Q01638	.;ILRL1_HUMAN	V	100	ENSP00000233954:A100V;ENSP00000377052:A100V;ENSP00000310371:A100V;ENSP00000386618:A100V	ENSP00000233954:A100V	A	+	2	0	IL1RL1	102323016	0.005000	0.15991	0.006000	0.13384	0.040000	0.13550	0.334000	0.19787	-0.154000	0.11118	-0.768000	0.03414	GCG		0.299	IL1RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253296.1	NM_016232		23	51	0	0	0	1	0	23	51				
SMARCA1	6594	broad.mit.edu	37	X	128631957	128631957	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chrX:128631957G>C	ENST00000371122.4	-	11	1498	c.1369C>G	c.(1369-1371)Cga>Gga	p.R457G	SMARCA1_ENST00000371121.3_Missense_Mutation_p.R457G|SMARCA1_ENST00000371123.1_Missense_Mutation_p.R457G	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	457					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						CAACACTTTCGAAGCTGCATC	0.373																																						ENST00000371122.4																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						c.(1369-1371)Cga>Gga		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1							104.0	86.0	92.0					X																	128631957		2203	4300	6503	SO:0001583	missense	6594				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding	g.chrX:128631957G>C	M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.1369C>G	X.37:g.128631957G>C	ENSP00000360163:p.Arg457Gly					SMARCA1_ENST00000371123.1_Missense_Mutation_p.R457G|SMARCA1_ENST00000371121.3_Missense_Mutation_p.R457G	p.R457G	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN			11	1498	-			457					Q5JV41|Q5JV42	Missense_Mutation	SNP	ENST00000371122.4	37	c.1369C>G	CCDS14612.1	.	.	.	.	.	.	.	.	.	.	g	16.59	3.166035	0.57476	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35	4.77	3.87	0.44632	SNF2-related (1);	0.000000	0.48767	U	0.000166	D	0.92554	0.7635	H	0.97291	3.975	0.53005	D	0.999965	D;D;P;D	0.89917	1.0;1.0;0.852;1.0	D;D;P;D	0.97110	1.0;1.0;0.701;1.0	D	0.94140	0.7396	10	0.87932	D	0	-6.0954	11.679	0.51446	0.0:0.0:0.6838:0.3161	.	436;457;457;457	E9PCY3;B7ZLQ5;P28370-2;P28370	.;.;.;SMCA1_HUMAN	G	457;457;457;436	ENSP00000360162:R457G;ENSP00000360164:R457G;ENSP00000360163:R457G;ENSP00000404275:R436G	ENSP00000360162:R457G	R	-	1	2	SMARCA1	128459638	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.929000	0.56514	1.961000	0.56991	0.279000	0.19357	CGA		0.373	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069		23	149	0	0	0	1	0	23	149				
SAMD12	401474	broad.mit.edu	37	8	119452089	119452089	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr8:119452089T>G	ENST00000314727.4	-	3	440	c.304A>C	c.(304-306)Aaa>Caa	p.K102Q	SAMD12_ENST00000409003.4_Missense_Mutation_p.K102Q	NM_207506.2	NP_997389.2	Q8N8I0	SAM12_HUMAN	sterile alpha motif domain containing 12	102	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.									endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			TCATGCTGTTTGAATGACTCA	0.433																																						ENST00000409003.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9						c.(304-306)Aaa>Caa		sterile alpha motif domain containing 12							243.0	205.0	218.0					8																	119452089		2203	4300	6503	SO:0001583	missense	401474							g.chr8:119452089T>G	AK096777	CCDS6325.1, CCDS47913.1	8q24.12	2013-01-10			ENSG00000177570	ENSG00000177570		"""Sterile alpha motif (SAM) domain containing"""	31750	protein-coding gene	gene with protein product							Standard	NM_207506		Approved	FLJ39458	uc003yom.2	Q8N8I0	OTTHUMG00000059817	ENST00000314727.4:c.304A>C	8.37:g.119452089T>G	ENSP00000314173:p.Lys102Gln					SAMD12_ENST00000314727.4_Missense_Mutation_p.K102Q	p.K102Q	NM_001101676.1	NP_001095146.1	Q8N8I0	SAM12_HUMAN	STAD - Stomach adenocarcinoma(47;0.00391)		3	432	-	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		102			SAM.		Q0P502	Missense_Mutation	SNP	ENST00000314727.4	37	c.304A>C	CCDS6325.1	.	.	.	.	.	.	.	.	.	.	T	17.41	3.383828	0.61845	.	.	ENSG00000177570	ENST00000409003;ENST00000524796;ENST00000314727;ENST00000526328	D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98	5.68	4.49	0.54785	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.105878	0.64402	D	0.000007	D	0.85120	0.5624	N	0.22421	0.69	0.40046	D	0.975711	P;D	0.67145	0.954;0.996	P;D	0.66602	0.677;0.945	D	0.83646	0.0153	9	.	.	.	-6.8317	12.77	0.57415	0.0:0.0:0.1371:0.8629	.	102;102	B8ZZB7;Q8N8I0	.;SAM12_HUMAN	Q	102;94;102;102	ENSP00000387133:K102Q;ENSP00000435927:K94Q;ENSP00000314173:K102Q;ENSP00000431360:K102Q	.	K	-	1	0	SAMD12	119521270	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.973000	0.70456	0.946000	0.37632	0.459000	0.35465	AAA		0.433	SAMD12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132989.3	NM_207506		92	146	0	0	0	1	0	92	146				
MYO16	23026	broad.mit.edu	37	13	109777629	109777629	+	Silent	SNP	G	G	C			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr13:109777629G>C	ENST00000357550.2	+	29	3680	c.3639G>C	c.(3637-3639)cgG>cgC	p.R1213R	MYO16_ENST00000356711.2_Silent_p.R1213R|MYO16_ENST00000457511.2_Silent_p.R725R	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			AAAATGACCGGCTCCGTAGTG	0.473																																						ENST00000356711.2																			0				NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121						c.(3637-3639)cgG>cgC		myosin XVI							61.0	57.0	58.0					13																	109777629		2203	4300	6503	SO:0001819	synonymous_variant	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109777629G>C		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.3639G>C	13.37:g.109777629G>C						MYO16_ENST00000357550.2_Silent_p.R1213R|MYO16_ENST00000457511.2_Silent_p.R725R	p.R1213R	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		30	3765	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		1213						Silent	SNP	ENST00000357550.2	37	c.3639G>C	CCDS32008.1																																																																																				0.473	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		33	35	0	0	0	1	0	33	35				
RP1L1	94137	broad.mit.edu	37	8	10480690	10480690	+	Missense_Mutation	SNP	C	C	A	rs371756047		TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr8:10480690C>A	ENST00000382483.3	-	2	245	c.22G>T	c.(22-24)Gcc>Tcc	p.A8S	RP1L1_ENST00000329335.3_5'UTR	NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	8					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GGGGCCTGGGCATTCCTGGGG	0.632																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(22-24)Gcc>Tcc		retinitis pigmentosa 1-like 1							28.0	30.0	30.0					8																	10480690		1977	4128	6105	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10480690C>A	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.22G>T	8.37:g.10480690C>A	ENSP00000371923:p.Ala8Ser					RP1L1_ENST00000329335.3_5'UTR	p.A8S	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	2	245	-			8					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.22G>T	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	c	12.56	1.975611	0.34848	.	.	ENSG00000183638	ENST00000382483	T	0.04551	3.6	4.53	1.58	0.23477	.	.	.	.	.	T	0.03827	0.0108	L	0.36672	1.1	0.09310	N	1	B	0.26195	0.144	B	0.24155	0.051	T	0.42882	-0.9425	9	0.44086	T	0.13	-0.3854	1.8155	0.03099	0.161:0.4935:0.157:0.1884	.	8	A6NKC6	.	S	8	ENSP00000371923:A8S	ENSP00000371923:A8S	A	-	1	0	RP1L1	10518100	0.001000	0.12720	0.002000	0.10522	0.270000	0.26580	-0.168000	0.09925	0.541000	0.28827	0.457000	0.33378	GCC		0.632	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			41	62	1	0	4.44401e-20	1	4.68103e-20	41	62				
RBBP8NL	140893	broad.mit.edu	37	20	60992299	60992299	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr20:60992299G>T	ENST00000252998.1	-	4	337	c.181C>A	c.(181-183)Ctg>Atg	p.L61M		NM_080833.2	NP_543023.2	Q8NC74	RB8NL_HUMAN	RBBP8 N-terminal like	61						extracellular space (GO:0005615)											AGCACCCGCAGGTTCTCCTTC	0.617																																						ENST00000252998.1																			0											c.(181-183)Ctg>Atg		RBBP8 N-terminal like							100.0	71.0	81.0					20																	60992299		2202	4296	6498	SO:0001583	missense	140893							g.chr20:60992299G>T	AL121832	CCDS13498.1	20q13.33	2012-10-30	2012-10-30	2012-10-30	ENSG00000130701	ENSG00000130701			16144	protein-coding gene	gene with protein product	"""hypothetical protein LOC140893"""		"""chromosome 20 open reading frame 151"""	C20orf151		11780052	Standard	NM_080833		Approved	dJ908M14.3	uc002ycw.2	Q8NC74	OTTHUMG00000032913	ENST00000252998.1:c.181C>A	20.37:g.60992299G>T	ENSP00000252998:p.Leu61Met						p.L61M	NM_080833.2	NP_543023.2					4	337	-								B2RP98|Q8N4Z9|Q9BR75|Q9H0Y9	Missense_Mutation	SNP	ENST00000252998.1	37	c.181C>A	CCDS13498.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.484267	0.63962	.	.	ENSG00000130701	ENST00000252998	T	0.20332	2.08	4.54	1.48	0.22813	Tumour-suppressor protein CtIP N-terminal (1);	0.238919	0.36200	N	0.002725	T	0.28962	0.0719	L	0.47716	1.5	0.28567	N	0.9108	D	0.53462	0.96	P	0.59424	0.857	T	0.06844	-1.0804	10	0.54805	T	0.06	-9.6693	6.7684	0.23581	0.0:0.3804:0.4271:0.1924	.	61	Q8NC74	CT151_HUMAN	M	61	ENSP00000252998:L61M	ENSP00000252998:L61M	L	-	1	2	C20orf151	60425694	1.000000	0.71417	0.997000	0.53966	0.796000	0.44982	1.749000	0.38319	0.119000	0.18210	0.561000	0.74099	CTG		0.617	RBBP8NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080029.1	NM_080833		5	12	1	0	0.000602214	1	0.00060605	5	12				
TDGF1	6997	broad.mit.edu	37	3	46620761	46620761	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr3:46620761A>G	ENST00000296145.5	+	3	861	c.128A>G	c.(127-129)tAc>tGc	p.Y43C	TDGF1_ENST00000542931.1_Missense_Mutation_p.Y27C|LRRC2_ENST00000296144.3_Intron	NM_003212.3	NP_003203.1	P13385	TDGF1_HUMAN	teratocarcinoma-derived growth factor 1	43			Y -> D (in dbSNP:rs2293025).		activation of MAPK activity (GO:0000187)|anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle cell differentiation (GO:0055007)|cell differentiation (GO:0030154)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to interferon-gamma (GO:0071346)|cellular response to interleukin-6 (GO:0071354)|cellular response to tumor necrosis factor (GO:0071356)|embryo development (GO:0009790)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of signal transduction (GO:0009966)|vasculogenesis (GO:0001570)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	growth factor activity (GO:0008083)|receptor binding (GO:0005102)			cervix(2)|endometrium(1)|kidney(1)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		TCTCGGGGATACCTGGCCTTC	0.517																																						ENST00000296145.5																			0				cervix(2)|endometrium(1)|kidney(1)|lung(4)	8						c.(127-129)tAc>tGc		teratocarcinoma-derived growth factor 1							77.0	74.0	75.0					3																	46620761		2203	4300	6503	SO:0001583	missense	6997				activation of MAPK activity|anterior/posterior axis specification, embryo|mammary gland development|morphogenesis of a branching structure|negative regulation of apoptosis|peptidyl-serine phosphorylation|positive regulation of cell migration|positive regulation of peptidyl-tyrosine phosphorylation	anchored to membrane|cell surface|extrinsic to plasma membrane	growth factor activity	g.chr3:46620761A>G	M96955	CCDS2742.1, CCDS54575.1	3p21.31	2012-10-03			ENSG00000241186	ENSG00000241186			11701	protein-coding gene	gene with protein product		187395				1882841, 10393436	Standard	NM_003212		Approved	CRIPTO, CR, Cripto-1	uc021wxd.1	P13385	OTTHUMG00000133482	ENST00000296145.5:c.128A>G	3.37:g.46620761A>G	ENSP00000296145:p.Tyr43Cys					LRRC2_ENST00000296144.3_Intron|TDGF1_ENST00000542931.1_Missense_Mutation_p.Y27C	p.Y43C	NM_003212.3	NP_003203.1	P13385	TDGF1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)	3	861	+			43		Y -> D (in dbSNP:rs2293025).			Q8TCC1	Missense_Mutation	SNP	ENST00000296145.5	37	c.128A>G	CCDS2742.1	.	.	.	.	.	.	.	.	.	.	A	10.92	1.487394	0.26686	.	.	ENSG00000241186	ENST00000542931;ENST00000296145	T;T	0.63744	-0.05;-0.06	4.2	1.53	0.23141	.	0.887640	0.09759	N	0.759449	T	0.37404	0.1002	N	0.08118	0	0.09310	N	1	B	0.16802	0.019	B	0.09377	0.004	T	0.28650	-1.0037	10	0.87932	D	0	.	3.3373	0.07106	0.6146:0.2255:0.1598:0.0	.	43	P13385	TDGF1_HUMAN	C	27;43	ENSP00000446375:Y27C;ENSP00000296145:Y43C	ENSP00000296145:Y43C	Y	+	2	0	AC104304.1	46595765	0.001000	0.12720	0.002000	0.10522	0.028000	0.11728	0.214000	0.17541	0.299000	0.22661	0.533000	0.62120	TAC		0.517	TDGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257378.2	NM_003212		36	60	0	0	0	1	0	36	60				
MTHFD2P1	100287639	broad.mit.edu	37	3	95374237	95374237	+	RNA	SNP	G	G	A			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr3:95374237G>A	ENST00000494840.1	-	0	1624					NR_077228.1				methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase pseudogene 1																		ACATTACAATGGGCATTCCAA	0.458																																						ENST00000494840.1																			0																																																			0							g.chr3:95374237G>A			3q11.2	2013-06-19			ENSG00000244681	ENSG00000244681			48859	pseudogene	pseudogene							Standard	NR_077228		Approved				OTTHUMG00000159027		3.37:g.95374237G>A								NR_077228.1						0	1624	-									RNA	SNP	ENST00000494840.1	37																																																																																						0.458	MTHFD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352943.1			30	66	0	0	0	1	0	30	66				
PLEC	5339	broad.mit.edu	37	8	144997377	144997377	+	Silent	SNP	C	C	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr8:144997377C>G	ENST00000322810.4	-	31	7300	c.7131G>C	c.(7129-7131)ctG>ctC	p.L2377L	PLEC_ENST00000357649.2_Silent_p.L2244L|PLEC_ENST00000436759.2_Silent_p.L2267L|PLEC_ENST00000356346.3_Silent_p.L2226L|PLEC_ENST00000398774.2_Silent_p.L2208L|PLEC_ENST00000527096.1_Silent_p.L2263L|PLEC_ENST00000354589.3_Silent_p.L2240L|PLEC_ENST00000345136.3_Silent_p.L2240L|PLEC_ENST00000354958.2_Silent_p.L2218L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2377	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGAGCTTGCTCAGCTCCTCCA	0.637																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(7129-7131)ctG>ctC		plectin							27.0	28.0	27.0					8																	144997377		2192	4289	6481	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144997377C>G	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.7131G>C	8.37:g.144997377C>G						PLEC_ENST00000527096.1_Silent_p.L2263L|PLEC_ENST00000357649.2_Silent_p.L2244L|PLEC_ENST00000354589.3_Silent_p.L2240L|PLEC_ENST00000356346.3_Silent_p.L2226L|PLEC_ENST00000436759.2_Silent_p.L2267L|PLEC_ENST00000354958.2_Silent_p.L2218L|PLEC_ENST00000398774.2_Silent_p.L2208L|PLEC_ENST00000345136.3_Silent_p.L2240L	p.L2377L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			31	7300	-			2377			Central fibrous rod domain.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.7131G>C	CCDS43772.1																																																																																				0.637	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		8	70	0	0	0	1	0	8	70				
CCND1	595	broad.mit.edu	37	11	69458623	69458623	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr11:69458623C>G	ENST00000227507.2	+	3	665	c.438C>G	c.(436-438)aaC>aaG	p.N146K	CCND1_ENST00000536559.1_Intron	NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	cyclin D1	146	Cyclin N-terminal.				canonical Wnt signaling pathway (GO:0060070)|cell division (GO:0051301)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|fat cell differentiation (GO:0045444)|G1/S transition of mitotic cell cycle (GO:0000082)|lactation (GO:0007595)|Leydig cell differentiation (GO:0033327)|liver development (GO:0001889)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ regeneration (GO:0031100)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|positive regulation of protein phosphorylation (GO:0001934)|re-entry into mitotic cell cycle (GO:0000320)|response to calcium ion (GO:0051592)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to organonitrogen compound (GO:0010243)|response to UV-A (GO:0070141)|response to vitamin E (GO:0033197)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)|transcriptional repressor complex (GO:0017053)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|proline-rich region binding (GO:0070064)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	TCCTGGTGAACAAGCTCAAGT	0.622			T	"""IGH@, FSTL3"""	"""CLL, B-ALL, breast"""					Multiple Myeloma(6;0.086)																											Pancreas(65;393 884 2788 21700 24360 27795 36895)	ENST00000227507.2				Dom	yes		11	11q13	595	T	cyclin D1			"""L, E"""	"""IGH@, FSTL3"""		"""CLL, B-ALL, breast"""		0				NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23						c.(436-438)aaC>aaG		cyclin D1	Arsenic trioxide(DB01169)						118.0	84.0	96.0					11																	69458623		2200	4294	6494	SO:0001583	missense	595				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding	g.chr11:69458623C>G	Z23022	CCDS8191.1	11q13	2008-07-18	2005-09-12		ENSG00000110092	ENSG00000110092			1582	protein-coding gene	gene with protein product	"""parathyroid adenomatosis 1"", ""B-cell CLL/lymphoma 1"", ""G1/S-specific cyclin D1"""	168461	"""cyclin D1 (PRAD1: parathyroid adenomatosis 1)"""	BCL1, D11S287E, PRAD1		1826542, 1833066	Standard	XM_006718653		Approved	U21B31	uc001opa.3	P24385	OTTHUMG00000167877	ENST00000227507.2:c.438C>G	11.37:g.69458623C>G	ENSP00000227507:p.Asn146Lys	Multiple Myeloma(6;0.086)				CCND1_ENST00000536559.1_Intron	p.N146K	NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		3	665	+	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		146			Cyclin N-terminal.		Q6LEF0	Missense_Mutation	SNP	ENST00000227507.2	37	c.438C>G	CCDS8191.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.513405	0.64522	.	.	ENSG00000110092	ENST00000227507;ENST00000539241	T	0.16743	2.32	4.16	3.23	0.37069	Cyclin, N-terminal (1);Cyclin-like (3);	0.213391	0.48286	D	0.000181	T	0.09730	0.0239	N	0.25485	0.75	0.80722	D	1	P	0.36733	0.567	B	0.33392	0.163	T	0.12502	-1.0545	10	0.34782	T	0.22	.	6.9289	0.24429	0.0:0.7681:0.0:0.2319	.	146	P24385	CCND1_HUMAN	K	146	ENSP00000227507:N146K	ENSP00000227507:N146K	N	+	3	2	CCND1	69167804	1.000000	0.71417	1.000000	0.80357	0.545000	0.35147	2.800000	0.47900	2.032000	0.59987	0.462000	0.41574	AAC		0.622	CCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396775.2	NM_053056		16	77	0	0	0	1	0	16	77				
UNC13B	10497	broad.mit.edu	37	9	35389883	35389883	+	Missense_Mutation	SNP	G	G	A	rs147799499	byFrequency	TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr9:35389883G>A	ENST00000378495.3	+	24	3110	c.2888G>A	c.(2887-2889)cGg>cAg	p.R963Q	UNC13B_ENST00000378496.4_Missense_Mutation_p.R963Q|UNC13B_ENST00000396787.1_Missense_Mutation_p.R975Q	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	963					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)	p.R963Q(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CCCAGCATTCGGAACCTGGAT	0.493													G|||	2	0.000399361	0.0008	0.0	5008	,	,		21650	0.0		0.0	False		,,,				2504	0.001					ENST00000378495.3																			1	Substitution - Missense(1)	p.R963Q(1)	pancreas(1)	breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(2887-2889)cGg>cAg		unc-13 homolog B (C. elegans)		G	GLN/ARG	0,4406		0,0,2203	147.0	143.0	144.0		2888	2.4	1.0	9	dbSNP_134	144	2,8598	2.2+/-6.3	0,2,4298	yes	missense	UNC13B	NM_006377.3	43	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	963/1592	35389883	2,13004	2203	4300	6503	SO:0001583	missense	10497				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	g.chr9:35389883G>A	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.2888G>A	9.37:g.35389883G>A	ENSP00000367756:p.Arg963Gln					UNC13B_ENST00000396787.1_Missense_Mutation_p.R975Q|UNC13B_ENST00000378496.4_Missense_Mutation_p.R963Q	p.R963Q	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)		24	3110	+	all_epithelial(49;0.212)		963					Q5VYM8	Missense_Mutation	SNP	ENST00000378495.3	37	c.2888G>A	CCDS6579.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	17.38	3.374962	0.61735	0.0	2.33E-4	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	D;D;D	0.83673	-1.63;-1.55;-1.75	5.24	2.38	0.29361	Calcium-dependent secretion activator (1);	0.328813	0.35739	N	0.003018	T	0.55465	0.1922	N	0.02539	-0.55	0.37039	D	0.897073	B;B	0.33777	0.043;0.425	B;B	0.22386	0.009;0.039	T	0.58504	-0.7625	10	0.41790	T	0.15	-9.5168	7.976	0.30155	0.3803:0.0:0.6197:0.0	.	963;963	F8W8M9;O14795	.;UN13B_HUMAN	Q	975;963;963;550	ENSP00000380006:R975Q;ENSP00000367756:R963Q;ENSP00000367757:R963Q	ENSP00000367756:R963Q	R	+	2	0	UNC13B	35379883	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.668000	0.37481	0.704000	0.31869	0.655000	0.94253	CGG		0.493	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377		48	53	0	0	0	1	0	48	53				
COL5A1	1289	broad.mit.edu	37	9	137708918	137708918	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr9:137708918G>A	ENST00000371817.3	+	53	4583	c.4169G>A	c.(4168-4170)gGa>gAa	p.G1390E		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1390	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGGCCTCCAGGAAAAAGGGTA	0.572																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(4168-4170)gGa>gAa		collagen, type V, alpha 1							103.0	97.0	99.0					9																	137708918		2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137708918G>A	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.4169G>A	9.37:g.137708918G>A	ENSP00000360882:p.Gly1390Glu						p.G1390E	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	53	4583	+		Myeloproliferative disorder(178;0.0341)	1390			Triple-helical region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.4169G>A	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056675	0.76074	.	.	ENSG00000130635	ENST00000371817	D	0.99176	-5.52	4.97	4.97	0.65823	.	0.000000	0.85682	U	0.000000	D	0.99492	0.9819	H	0.94886	3.595	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98227	1.0481	10	0.87932	D	0	.	16.7952	0.85600	0.0:0.0:1.0:0.0	.	1390	P20908	CO5A1_HUMAN	E	1390	ENSP00000360882:G1390E	ENSP00000360882:G1390E	G	+	2	0	COL5A1	136848739	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.743000	0.98849	2.304000	0.77564	0.643000	0.83706	GGA		0.572	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		12	45	0	0	0	1	0	12	45				
GDF7	151449	broad.mit.edu	37	2	20870684	20870684	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr2:20870684C>G	ENST00000272224.3	+	2	1428	c.852C>G	c.(850-852)atC>atG	p.I284M		NM_182828.2	NP_878248.2	Q7Z4P5	GDF7_HUMAN	growth differentiation factor 7	284					activin receptor signaling pathway (GO:0032924)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching morphogenesis of an epithelial tube (GO:0048754)|cell fate commitment (GO:0045165)|epithelial cell differentiation (GO:0030855)|forebrain morphogenesis (GO:0048853)|gland morphogenesis (GO:0022612)|growth (GO:0040007)|midbrain development (GO:0030901)|morphogenesis of an epithelial fold (GO:0060571)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of tendon cell differentiation (GO:2001051)|positive regulation of transcription, DNA-templated (GO:0045893)|reproductive structure development (GO:0048608)|roof plate formation (GO:0021509)|spinal cord association neuron differentiation (GO:0021527)	extracellular space (GO:0005615)				breast(1)|cervix(1)|endometrium(2)|lung(1)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCGGGAGATCCGCGCCCAGG	0.731																																						ENST00000272224.3																			0				breast(1)|cervix(1)|endometrium(2)|lung(1)|prostate(1)|skin(1)	7						c.(850-852)atC>atG		growth differentiation factor 7							4.0	5.0	4.0					2																	20870684		1431	3014	4445	SO:0001583	missense	151449				activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr2:20870684C>G	AF522369	CCDS1701.1	2p24.1	2008-05-22			ENSG00000143869	ENSG00000143869			4222	protein-coding gene	gene with protein product		604651				10022976, 9808626	Standard	NM_182828		Approved	BMP12	uc002rdz.1	Q7Z4P5	OTTHUMG00000090781	ENST00000272224.3:c.852C>G	2.37:g.20870684C>G	ENSP00000272224:p.Ile284Met						p.I284M	NM_182828.2	NP_878248.2	Q7Z4P5	GDF7_HUMAN			2	1428	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		284						Missense_Mutation	SNP	ENST00000272224.3	37	c.852C>G	CCDS1701.1	.	.	.	.	.	.	.	.	.	.	C	7.246	0.602294	0.13939	.	.	ENSG00000143869	ENST00000272224	T	0.78364	-1.17	3.37	-2.88	0.05682	.	6.130460	0.01278	N	0.009655	T	0.65133	0.2662	L	0.27053	0.805	0.21740	N	0.999569	P	0.45176	0.852	B	0.41299	0.353	T	0.56667	-0.7941	10	0.22706	T	0.39	.	7.6266	0.28216	0.1048:0.5131:0.3116:0.0706	.	284	Q7Z4P5	GDF7_HUMAN	M	284	ENSP00000272224:I284M	ENSP00000272224:I284M	I	+	3	3	GDF7	20734165	0.990000	0.36364	0.969000	0.41365	0.151000	0.21798	0.185000	0.16958	-0.760000	0.04677	-3.576000	0.00029	ATC		0.731	GDF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207563.2	NM_182828		6	9	0	0	0	1	0	6	9				
SLIT1	6585	broad.mit.edu	37	10	98924616	98924616	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr10:98924616G>A	ENST00000266058.4	-	2	474	c.229C>T	c.(229-231)Cat>Tat	p.H77Y	SLIT1_ENST00000456008.2_5'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.H77Y|SLIT1_ENST00000371041.3_Missense_Mutation_p.H77Y|ARHGAP19-SLIT1_ENST00000453547.2_Silent_p.S502S	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	77					axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TCATTCTTATGGATCCGAGTG	0.617																																						ENST00000266058.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78						c.(229-231)Cat>Tat		slit homolog 1 (Drosophila)							160.0	135.0	143.0					10																	98924616		2203	4300	6503	SO:0001583	missense	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98924616G>A	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.229C>T	10.37:g.98924616G>A	ENSP00000266058:p.His77Tyr					ARHGAP19-SLIT1_ENST00000453547.2_Silent_p.S502S|SLIT1_ENST00000371041.3_Missense_Mutation_p.H77Y|SLIT1_ENST00000371070.4_Missense_Mutation_p.H77Y|SLIT1_ENST00000456008.2_5'UTR	p.H77Y	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	2	474	-		Colorectal(252;0.162)	77					Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	c.229C>T	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.284080	0.23392	.	.	ENSG00000187122	ENST00000266058;ENST00000371057;ENST00000371054;ENST00000371070;ENST00000314867;ENST00000456008;ENST00000371041	T;T;T;T	0.57595	1.85;1.85;0.39;0.39	4.79	4.79	0.61399	.	0.169358	0.49916	D	0.000123	T	0.43188	0.1236	L	0.37630	1.12	0.37867	D	0.929945	P;P;P	0.42357	0.6;0.545;0.777	P;B;B	0.46885	0.53;0.395;0.284	T	0.42378	-0.9455	10	0.02654	T	1	.	10.4063	0.44258	0.0:0.0:0.6938:0.3062	.	77;77;77	E7EWQ8;O75093-2;O75093	.;.;SLIT1_HUMAN	Y	77;77;77;77;60;77;77	ENSP00000266058:H77Y;ENSP00000360109:H77Y;ENSP00000315005:H60Y;ENSP00000360080:H77Y	ENSP00000266058:H77Y	H	-	1	0	SLIT1	98914606	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	4.188000	0.58351	2.474000	0.83562	0.561000	0.74099	CAT		0.617	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		42	80	0	0	0	1	0	42	80				
VCX2	51480	broad.mit.edu	37	X	8138193	8138193	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chrX:8138193C>G	ENST00000317103.4	-	3	606	c.300G>C	c.(298-300)caG>caC	p.Q100H		NM_016378.2	NP_057462.2	Q9H322	VCX2_HUMAN	variable charge, X-linked 2	100										endometrium(1)	1		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				GGGGGTCGTGCTGGGTCCCCT	0.677																																						ENST00000317103.4																			0				endometrium(1)	1						c.(298-300)caG>caC		variable charge, X-linked 2							22.0	28.0	26.0					X																	8138193		2148	4209	6357	SO:0001583	missense	51480							g.chrX:8138193C>G	AF159127	CCDS35200.1	Xp22.32	2008-02-05			ENSG00000177504	ENSG00000177504			18158	protein-coding gene	gene with protein product		300532				10607842	Standard	NM_016378		Approved	VCX-2r, VCX-2R	uc004csb.3	Q9H322	OTTHUMG00000021105	ENST00000317103.4:c.300G>C	X.37:g.8138193C>G	ENSP00000321309:p.Gln100His						p.Q100H	NM_016378.2	NP_057462.2	Q9H322	VCX2_HUMAN			3	606	-		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)	100					A3KPB6|Q4V9T2|Q9P0H5	Missense_Mutation	SNP	ENST00000317103.4	37	c.300G>C	CCDS35200.1	.	.	.	.	.	.	.	.	.	.	C	4.943	0.175251	0.09391	.	.	ENSG00000177504	ENST00000317103	T	0.23950	1.88	0.0465	0.0465	0.14256	.	.	.	.	.	T	0.23649	0.0572	L	0.50333	1.59	0.09310	N	1	P	0.42518	0.782	B	0.42422	0.387	T	0.15350	-1.0440	8	0.72032	D	0.01	.	.	.	.	.	100	Q9H322	VCX2_HUMAN	H	100	ENSP00000321309:Q100H	ENSP00000321309:Q100H	Q	-	3	2	VCX2	8098193	0.009000	0.17119	0.009000	0.14445	0.009000	0.06853	0.764000	0.26532	0.122000	0.18314	0.124000	0.15798	CAG		0.677	VCX2-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055690.1	NM_016378		36	156	0	0	0	1	0	36	156				
DCAF8L1	139425	broad.mit.edu	37	X	27998066	27998066	+	Silent	SNP	G	G	C			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chrX:27998066G>C	ENST00000441525.1	-	1	1500	c.1386C>G	c.(1384-1386)gtC>gtG	p.V462V		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	462										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CCCAGAAGAAGACGTGCCCAC	0.468																																						ENST00000441525.1																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						c.(1384-1386)gtC>gtG		DDB1 and CUL4 associated factor 8-like 1							53.0	46.0	48.0					X																	27998066		2202	4300	6502	SO:0001819	synonymous_variant	139425							g.chrX:27998066G>C		CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"""WD repeat domain containing"""	31810	protein-coding gene	gene with protein product			"""WD repeat domain 42B"""	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.1386C>G	X.37:g.27998066G>C							p.V462V	NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN			1	1500	-			462					B3KXX1	Silent	SNP	ENST00000441525.1	37	c.1386C>G	CCDS35222.1																																																																																				0.468	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	XM_066690		26	66	0	0	0	1	0	26	66				
ZSCAN16	80345	broad.mit.edu	37	6	28093396	28093396	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr6:28093396C>T	ENST00000340487.4	+	2	324	c.175C>T	c.(175-177)Ctt>Ttt	p.L59F	ZSCAN16-AS1_ENST00000600652.1_RNA|ZSCAN16-AS1_ENST00000602810.1_RNA	NM_025231.1	NP_079507.1	Q9H4T2	ZSC16_HUMAN	zinc finger and SCAN domain containing 16	59	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						CCGTGAAGCTCTTACCCAGCT	0.537																																						ENST00000340487.4																			0				large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(175-177)Ctt>Ttt		zinc finger and SCAN domain containing 16							191.0	192.0	192.0					6																	28093396		2203	4300	6503	SO:0001583	missense	80345				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28093396C>T	AK025844	CCDS4644.1	6p21.33	2013-01-08	2007-02-20	2007-02-20	ENSG00000196812	ENSG00000196812		"""-"", ""Zinc fingers, C2H2-type"""	20813	protein-coding gene	gene with protein product			"""zinc finger protein 392"", ""zinc finger protein 435"""	ZNF392, ZNF435			Standard	NM_025231		Approved	FLJ22191, dJ265C24.3	uc003nkm.3	Q9H4T2	OTTHUMG00000014509	ENST00000340487.4:c.175C>T	6.37:g.28093396C>T	ENSP00000366527:p.Leu59Phe					RP1-265C24.9_ENST00000600652.1_RNA|RP1-265C24.9_ENST00000602810.1_RNA	p.L59F	NM_025231.1	NP_079507.1	Q9H4T2	ZSC16_HUMAN			2	324	+			59			SCAN box.		Q9H6K2	Missense_Mutation	SNP	ENST00000340487.4	37	c.175C>T	CCDS4644.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.979988	0.53827	.	.	ENSG00000196812	ENST00000340487	T	0.08546	3.08	4.06	3.18	0.36537	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.10723	0.0262	M	0.69463	2.115	0.09310	N	0.999999	D;B	0.64830	0.994;0.11	D;B	0.67382	0.951;0.078	T	0.12785	-1.0534	9	0.52906	T	0.07	.	5.7396	0.18085	0.0:0.6862:0.0:0.3138	.	59;59	B4DFB7;Q9H4T2	.;ZSC16_HUMAN	F	59	ENSP00000366527:L59F	ENSP00000366527:L59F	L	+	1	0	ZSCAN16	28201375	0.003000	0.15002	0.243000	0.24186	0.995000	0.86356	0.716000	0.25836	1.056000	0.40484	0.557000	0.71058	CTT		0.537	ZSCAN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040177.1	NM_025231		61	244	0	0	0	1	0	61	244				
ZNF479	90827	broad.mit.edu	37	7	57188424	57188424	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr7:57188424A>G	ENST00000331162.4	-	5	968	c.698T>C	c.(697-699)aTa>aCa	p.I233T		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	233					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			AGTATGAATTATTTTATGTGT	0.383																																						ENST00000331162.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84						c.(697-699)aTa>aCa		zinc finger protein 479							13.0	15.0	14.0					7																	57188424		1933	4142	6075	SO:0001583	missense	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57188424A>G	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.698T>C	7.37:g.57188424A>G	ENSP00000333776:p.Ile233Thr						p.I233T	NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		5	968	-			233						Missense_Mutation	SNP	ENST00000331162.4	37	c.698T>C	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	a	4.455	0.084279	0.08583	.	.	ENSG00000185177	ENST00000331162	T	0.18338	2.22	1.16	0.0443	0.14225	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08447	0.0210	N	0.11313	0.125	0.09310	N	1	P	0.37573	0.6	B	0.36808	0.233	T	0.26018	-1.0115	9	0.62326	D	0.03	.	5.9962	0.19495	0.312:0.688:0.0:0.0	.	233	Q96JC4	ZN479_HUMAN	T	233	ENSP00000333776:I233T	ENSP00000333776:I233T	I	-	2	0	ZNF479	57192366	0.000000	0.05858	0.011000	0.14972	0.014000	0.08584	0.171000	0.16685	-0.222000	0.09958	-0.709000	0.03644	ATA		0.383	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		33	32	0	0	0	1	0	33	32				
FLNC	2318	broad.mit.edu	37	7	128482936	128482936	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr7:128482936C>G	ENST00000325888.8	+	16	2739	c.2478C>G	c.(2476-2478)aaC>aaG	p.N826K	FLNC_ENST00000346177.6_Missense_Mutation_p.N826K	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	826					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AGAATGACAACGACACCTTCA	0.592																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(2476-2478)aaC>aaG		filamin C, gamma							65.0	71.0	69.0					7																	128482936		2152	4239	6391	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128482936C>G	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.2478C>G	7.37:g.128482936C>G	ENSP00000327145:p.Asn826Lys					FLNC_ENST00000346177.6_Missense_Mutation_p.N826K	p.N826K	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			16	2739	+			826					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.2478C>G	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	c	17.07	3.295523	0.60086	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.92495	-2.96;-3.05	5.7	-11.4	0.00090	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94758	0.8308	M	0.66939	2.045	0.29838	N	0.829483	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.91240	0.5021	10	0.87932	D	0	.	27.4638	0.99998	0.0:0.758:0.0:0.242	.	826;826	Q14315-2;Q14315	.;FLNC_HUMAN	K	826	ENSP00000327145:N826K;ENSP00000344002:N826K	ENSP00000327145:N826K	N	+	3	2	FLNC	128270172	0.000000	0.05858	0.024000	0.17045	0.809000	0.45718	-3.676000	0.00396	-3.863000	0.00097	-3.167000	0.00057	AAC		0.592	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			21	70	0	0	0	1	0	21	70				
PRR23B	389151	broad.mit.edu	37	3	138738956	138738956	+	Missense_Mutation	SNP	C	C	G	rs200993865	byFrequency	TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr3:138738956C>G	ENST00000329447.5	-	1	812	c.548G>C	c.(547-549)aGa>aCa	p.R183T	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	183										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAACATACTTCTAGAGGAGGG	0.647													C|||	4	0.000798722	0.0	0.0	5008	,	,		15074	0.004		0.0	False		,,,				2504	0.0					ENST00000329447.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(547-549)aGa>aCa		proline rich 23B							33.0	41.0	39.0					3																	138738956		2201	4300	6501	SO:0001583	missense	389151							g.chr3:138738956C>G	BC137146	CCDS33868.1	3q22.3	2014-06-03			ENSG00000184814	ENSG00000184814			33764	protein-coding gene	gene with protein product							Standard	NM_001013650		Approved	FLJ46116	uc003esy.1	Q6ZRT6	OTTHUMG00000160633	ENST00000329447.5:c.548G>C	3.37:g.138738956C>G	ENSP00000328768:p.Arg183Thr					MRPS22_ENST00000495075.1_Intron	p.R183T	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN			1	812	-			183					B2RNV9	Missense_Mutation	SNP	ENST00000329447.5	37	c.548G>C	CCDS33868.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	1.641	-0.516471	0.04200	.	.	ENSG00000184814	ENST00000329447	.	.	.	2.64	-2.12	0.07165	.	2.389410	0.02103	N	0.054160	T	0.34542	0.0901	L	0.54323	1.7	0.09310	N	1	B	0.34181	0.44	B	0.32090	0.14	T	0.11494	-1.0585	9	0.12103	T	0.63	.	7.2426	0.26104	0.1813:0.2829:0.5358:0.0	.	183	Q6ZRT6	PR23B_HUMAN	T	183	.	ENSP00000328768:R183T	R	-	2	0	PRR23B	140221646	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.410000	0.02480	-0.510000	0.06523	-0.496000	0.04628	AGA		0.647	PRR23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361501.1	NM_001013650		11	79	0	0	0	1	0	11	79				
AIFM1	9131	broad.mit.edu	37	X	129290463	129290463	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chrX:129290463C>G	ENST00000287295.3	-	2	451	c.221G>C	c.(220-222)gGc>gCc	p.G74A	AIFM1_ENST00000346424.2_Intron|AIFM1_ENST00000535724.1_Intron|AIFM1_ENST00000319908.3_Intron	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	74					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|chromosome condensation (GO:0030261)|DNA catabolic process (GO:0006308)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitochondrial respiratory chain complex I assembly (GO:0032981)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic DNA fragmentation (GO:1902510)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|FAD binding (GO:0071949)|NAD(P)H oxidase activity (GO:0016174)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30					Flavin adenine dinucleotide(DB03147)	TGTTGATAAGCCCACAATAAG	0.443																																						ENST00000287295.3																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						c.(220-222)gGc>gCc		apoptosis-inducing factor, mitochondrion-associated, 1							179.0	150.0	160.0					X																	129290463		2203	4300	6503	SO:0001583	missense	9131				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	g.chrX:129290463C>G	AF100928	CCDS14618.1, CCDS14619.1, CCDS48167.1	Xq26.1	2014-01-30	2006-11-16	2006-11-16	ENSG00000156709	ENSG00000156709			8768	protein-coding gene	gene with protein product		300169	"""programmed cell death 8 (apoptosis-inducing factor)"", ""neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)"""	PDCD8, NAMSD		9989411, 23217327	Standard	NM_004208		Approved	AIF, CMTX4	uc004evg.3	O95831	OTTHUMG00000022392	ENST00000287295.3:c.221G>C	X.37:g.129290463C>G	ENSP00000287295:p.Gly74Ala					AIFM1_ENST00000535724.1_Intron|AIFM1_ENST00000346424.2_Intron|AIFM1_ENST00000319908.3_Intron	p.G74A	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN			2	451	-			74					A4QPB4|B1ALN1|B2RB08|D3DTE9|Q1L6K4|Q1L6K6|Q2QKE4|Q5JUZ7|Q6I9X6|Q9Y3I3|Q9Y3I4	Missense_Mutation	SNP	ENST00000287295.3	37	c.221G>C	CCDS14618.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.430431	0.62844	.	.	ENSG00000156709	ENST00000287295	T	0.76060	-0.99	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.84019	0.5380	M	0.71036	2.16	0.80722	D	1	D;P	0.65815	0.995;0.874	D;B	0.68483	0.958;0.279	T	0.81428	-0.0937	10	0.22706	T	0.39	-9.9564	16.6129	0.84899	0.0:1.0:0.0:0.0	.	74;74	Q1L6K6;O95831	.;AIFM1_HUMAN	A	74	ENSP00000287295:G74A	ENSP00000287295:G74A	G	-	2	0	AIFM1	129118144	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.604000	0.61112	2.296000	0.77279	0.538000	0.68166	GGC		0.443	AIFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058247.2			42	335	0	0	0	1	0	42	335				
XKR4	114786	broad.mit.edu	37	8	56015369	56015369	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr8:56015369C>G	ENST00000327381.6	+	1	421	c.321C>G	c.(319-321)taC>taG	p.Y107*		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	107						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			AGCGGCGCTACTCACTGTGGG	0.771																																						ENST00000327381.5																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34						c.(319-321)taC>taG		XK, Kell blood group complex subunit-related family, member 4							30.0	30.0	30.0					8																	56015369		2193	4291	6484	SO:0001587	stop_gained	114786					integral to membrane		g.chr8:56015369C>G	AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 4"""				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.321C>G	8.37:g.56015369C>G	ENSP00000328326:p.Tyr107*						p.Y107*	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	Epithelial(17;0.000117)|all cancers(17;0.000836)		1	421	+			107					Q96PZ8	Nonsense_Mutation	SNP	ENST00000327381.6	37	c.321C>G	CCDS34893.1	.	.	.	.	.	.	.	.	.	.	C	38	7.175992	0.98114	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	.	.	.	4.87	4.87	0.63330	.	0.652243	0.14772	N	0.299328	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.1374	13.4398	0.61106	0.0:0.9211:0.0:0.0789	.	.	.	.	X	107	.	ENSP00000328326:Y107X	Y	+	3	2	XKR4	56177923	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	2.561000	0.45905	2.246000	0.74042	0.644000	0.83932	TAC		0.771	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898		15	100	0	0	0	1	0	15	100				
RNF103	7844	broad.mit.edu	37	2	86831619	86831619	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr2:86831619G>A	ENST00000237455.4	-	4	2373	c.1405C>T	c.(1405-1407)Ccg>Tcg	p.P469S	AC015971.2_ENST00000439077.1_RNA|AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000424788.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000426549.1_RNA|RNF103_ENST00000477307.1_5'Flank	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	469					central nervous system development (GO:0007417)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						GAAGCAATCGGGTGGAAGAGG	0.458																																						ENST00000237455.4																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						c.(1405-1407)Ccg>Tcg		ring finger protein 103							85.0	84.0	85.0					2																	86831619		2203	4300	6503	SO:0001583	missense	7844				central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:86831619G>A	D76444	CCDS33237.1	2p11.2	2013-01-09	2003-05-14	2003-05-16	ENSG00000239305	ENSG00000239305		"""RING-type (C3HC4) zinc fingers"""	12859	protein-coding gene	gene with protein product		602507	"""zinc finger protein 103 homolog (mouse)"""	ZFP103		9070305	Standard	NM_005667		Approved	hkf-1, KF1	uc021vkg.1	O00237	OTTHUMG00000153197	ENST00000237455.4:c.1405C>T	2.37:g.86831619G>A	ENSP00000237455:p.Pro469Ser					RNF103-CHMP3_ENST00000604011.1_Intron|AC015971.2_ENST00000424788.1_RNA|AC015971.2_ENST00000439077.1_RNA|AC015971.2_ENST00000597638.1_RNA|CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000426549.1_RNA	p.P469S	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN			4	2373	-			469					A6NFV6|B2RAG4|Q53SU6|Q8IVB9	Missense_Mutation	SNP	ENST00000237455.4	37	c.1405C>T	CCDS33237.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.156405	0.57259	.	.	ENSG00000239305	ENST00000237455	T	0.51325	0.71	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.67562	0.2906	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.65129	-0.6243	10	0.40728	T	0.16	-7.4976	19.2708	0.94008	0.0:0.0:1.0:0.0	.	469	O00237	RN103_HUMAN	S	469	ENSP00000237455:P469S	ENSP00000237455:P469S	P	-	1	0	RNF103	86685130	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.425000	0.97467	2.560000	0.86352	0.460000	0.39030	CCG		0.458	RNF103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330041.2	NM_005667		23	105	0	0	0	1	0	23	105				
PLEC	5339	broad.mit.edu	37	8	144997340	144997340	+	Missense_Mutation	SNP	C	C	G	rs62641756	byFrequency	TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr8:144997340C>G	ENST00000322810.4	-	31	7337	c.7168G>C	c.(7168-7170)Gca>Cca	p.A2390P	PLEC_ENST00000357649.2_Missense_Mutation_p.A2257P|PLEC_ENST00000436759.2_Missense_Mutation_p.A2280P|PLEC_ENST00000356346.3_Missense_Mutation_p.A2239P|PLEC_ENST00000398774.2_Missense_Mutation_p.A2221P|PLEC_ENST00000527096.1_Missense_Mutation_p.A2276P|PLEC_ENST00000354589.3_Missense_Mutation_p.A2253P|PLEC_ENST00000345136.3_Missense_Mutation_p.A2253P|PLEC_ENST00000354958.2_Missense_Mutation_p.A2231P	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2390	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AAGATGAGTGCGCGGTTCTCA	0.642																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(7168-7170)Gca>Cca		plectin							26.0	26.0	26.0					8																	144997340		2194	4292	6486	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144997340C>G	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.7168G>C	8.37:g.144997340C>G	ENSP00000323856:p.Ala2390Pro					PLEC_ENST00000527096.1_Missense_Mutation_p.A2276P|PLEC_ENST00000357649.2_Missense_Mutation_p.A2257P|PLEC_ENST00000354589.3_Missense_Mutation_p.A2253P|PLEC_ENST00000356346.3_Missense_Mutation_p.A2239P|PLEC_ENST00000436759.2_Missense_Mutation_p.A2280P|PLEC_ENST00000354958.2_Missense_Mutation_p.A2231P|PLEC_ENST00000398774.2_Missense_Mutation_p.A2221P|PLEC_ENST00000345136.3_Missense_Mutation_p.A2253P	p.A2390P	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			31	7337	-			2390			Central fibrous rod domain.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.7168G>C	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	0.525	-0.860419	0.02610	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.77229	-1.05;-1.05;-1.08;-1.08;-1.07;-1.05;-1.04;-1.05;-1.05	5.2	0.864	0.19068	.	0.662221	0.13678	U	0.370411	T	0.66761	0.2822	N	0.22421	0.69	0.09310	N	1	P;P;P;P;P;P;P;P	0.39831	0.69;0.69;0.69;0.564;0.69;0.69;0.69;0.69	B;B;B;B;B;B;B;B	0.42692	0.395;0.395;0.395;0.222;0.395;0.395;0.395;0.395	T	0.56577	-0.7956	10	0.39692	T	0.17	.	10.7897	0.46426	0.0:0.6631:0.0:0.3369	.	2280;2239;2231;2390;2221;2253;2257;2253	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	P	2253;2257;2253;2221;2390;2231;2239;2280;2276	ENSP00000344848:A2253P;ENSP00000350277:A2257P;ENSP00000346602:A2253P;ENSP00000381756:A2221P;ENSP00000323856:A2390P;ENSP00000347044:A2231P;ENSP00000348702:A2239P;ENSP00000388180:A2280P;ENSP00000434583:A2276P	ENSP00000323856:A2390P	A	-	1	0	PLEC	145069328	0.000000	0.05858	0.001000	0.08648	0.073000	0.16967	-0.228000	0.09114	0.222000	0.20900	-0.235000	0.12190	GCA		0.642	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		9	47	0	0	0	1	0	9	47				
HOXA11	3207	broad.mit.edu	37	7	27224559	27224559	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr7:27224559G>C	ENST00000006015.3	-	1	276	c.205C>G	c.(205-207)Ccc>Gcc	p.P69A	HOXA11-AS_ENST00000479766.1_RNA|RP1-170O19.14_ENST00000523331.1_lincRNA|HOXA11-AS_ENST00000520360.1_RNA|HOXA11-AS_ENST00000520395.1_RNA|HOXA11-AS_ENST00000522863.1_RNA|HOXA11-AS_ENST00000522674.1_RNA	NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11	69					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|developmental growth (GO:0048589)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal joint morphogenesis (GO:0060272)|male gonad development (GO:0008584)|mesodermal cell fate specification (GO:0007501)|metanephros development (GO:0001656)|multicellular organismal development (GO:0007275)|organ induction (GO:0001759)|positive regulation of cell development (GO:0010720)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)	nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						TTAGTGGCGGGCTCAATGGCG	0.657			T	NUP98	CML						OREG0003747	type=REGULATORY REGION|Gene=BC025338|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000006015.3				Dom	yes		7	7p15-p14.2	3207	T	homeo box A11			L	NUP98		CML		0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						c.(205-207)Ccc>Gcc		homeobox A11							54.0	62.0	59.0					7																	27224559		2203	4300	6503	SO:0001583	missense	3207				branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27224559G>C		CCDS5411.1	7p15.2	2014-09-17	2005-12-22		ENSG00000005073	ENSG00000005073		"""Homeoboxes / ANTP class : HOXL subclass"""	5101	protein-coding gene	gene with protein product		142958	"""homeo box A11"""	HOX1I, HOX1		1973146, 1358459	Standard	NM_005523		Approved		uc003syx.3	P31270	OTTHUMG00000023437	ENST00000006015.3:c.205C>G	7.37:g.27224559G>C	ENSP00000006015:p.Pro69Ala		OREG0003747	type=REGULATORY REGION|Gene=BC025338|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	792	HOXA11-AS_ENST00000522863.1_RNA|HOXA11-AS_ENST00000520360.1_RNA	p.P69A	NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN			1	276	-			69					A4D190	Missense_Mutation	SNP	ENST00000006015.3	37	c.205C>G	CCDS5411.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.36|12.36	1.915482|1.915482	0.33815|0.33815	.|.	.|.	ENSG00000005073|ENSG00000005073	ENST00000006015|ENST00000517402	T|.	0.39592|.	1.07|.	5.49|5.49	5.49|5.49	0.81192|0.81192	Domain of unknown function DUF3528, homeobox protein, eukaryotic (1);|.	0.114584|.	0.64402|.	D|.	0.000010|.	T|T	0.60586|0.60586	0.2280|0.2280	L|L	0.45285|0.45285	1.41|1.41	0.49213|0.49213	D|D	0.999766|0.999766	B|.	0.22746|.	0.074|.	B|.	0.20955|.	0.032|.	T|T	0.56601|0.56601	-0.7952|-0.7952	10|5	0.24483|.	T|.	0.36|.	.|.	14.249|14.249	0.66007|0.66007	0.0:0.0:0.851:0.149|0.0:0.0:0.851:0.149	.|.	69|.	P31270|.	HXA11_HUMAN|.	A|R	69|38	ENSP00000006015:P69A|.	ENSP00000006015:P69A|.	P|S	-|-	1|3	0|2	HOXA11|HOXA11	27191084|27191084	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.329000|4.329000	0.59260|0.59260	2.569000|2.569000	0.86673|0.86673	0.650000|0.650000	0.86243|0.86243	CCC|AGC		0.657	HOXA11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358754.1			9	97	0	0	0	1	0	9	97				
NME8	51314	broad.mit.edu	37	7	37903019	37903019	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr7:37903019G>C	ENST00000199447.4	+	8	781	c.409G>C	c.(409-411)Gac>Cac	p.D137H	NME8_ENST00000440017.1_Missense_Mutation_p.D137H|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	137					cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										TCCATTAGTAGACTCAGATTC	0.333																																						ENST00000199447.4																			0											c.(409-411)Gac>Cac		NME/NM23 family member 8							105.0	110.0	108.0					7																	37903019		2203	4300	6503	SO:0001583	missense	51314				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr7:37903019G>C	AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 2"""	607421	"""thioredoxin domain containing 3 (spermatozoa)"""	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.409G>C	7.37:g.37903019G>C	ENSP00000199447:p.Asp137His					NME8_ENST00000440017.1_Missense_Mutation_p.D137H|EPDR1_ENST00000476620.1_Intron	p.D137H	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN			8	781	+			137					Q9NZH1	Missense_Mutation	SNP	ENST00000199447.4	37	c.409G>C	CCDS5452.1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.884913	0.33255	.	.	ENSG00000086288	ENST00000199447;ENST00000455500;ENST00000444718;ENST00000440017	T;T	0.38401	1.14;1.14	3.95	3.07	0.35406	.	0.121434	0.36854	N	0.002366	T	0.36054	0.0953	N	0.24115	0.695	0.09310	N	1	D	0.56968	0.978	P	0.58928	0.848	T	0.06144	-1.0843	10	0.62326	D	0.03	-25.9691	7.5013	0.27520	0.1156:0.0:0.8844:0.0	.	137	Q8N427	TXND3_HUMAN	H	137;82;82;137	ENSP00000199447:D137H;ENSP00000397063:D137H	ENSP00000199447:D137H	D	+	1	0	TXNDC3	37869544	0.573000	0.26676	0.007000	0.13788	0.016000	0.09150	3.798000	0.55522	1.243000	0.43853	0.591000	0.81541	GAC		0.333	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616		21	197	0	0	0	1	0	21	197				
SERPINA1	5265	broad.mit.edu	37	14	94849110	94849110	+	Silent	SNP	C	C	T			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr14:94849110C>T	ENST00000448921.1	-	4	1037	c.465G>A	c.(463-465)ttG>ttA	p.L155L	SERPINA1_ENST00000404814.4_Silent_p.L155L|SERPINA1_ENST00000402629.1_Silent_p.L155L|SERPINA1_ENST00000440909.1_Silent_p.L155L|SERPINA1_ENST00000449399.3_Silent_p.L155L|SERPINA1_ENST00000437397.1_Silent_p.L155L|SERPINA1_ENST00000355814.4_Silent_p.L155L|SERPINA1_ENST00000555289.1_5'Flank|SERPINA1_ENST00000393088.4_Silent_p.L155L|SERPINA1_ENST00000393087.4_Silent_p.L155L	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	155					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of proteolysis (GO:0030162)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TAACATCCTCCAAAAACTTAT	0.522																																						ENST00000448921.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24						c.(463-465)ttG>ttA		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	Alpha-1-proteinase inhibitor(DB00058)						95.0	93.0	93.0					14																	94849110		2203	4300	6503	SO:0001819	synonymous_variant	5265				acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity	g.chr14:94849110C>T	X01683	CCDS9925.1	14q32.1	2014-02-18	2005-08-18		ENSG00000197249	ENSG00000197249		"""Serine (or cysteine) peptidase inhibitors"""	8941	protein-coding gene	gene with protein product	"""protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin"""	107400	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1"""	PI		24172014	Standard	NM_000295		Approved	AAT, A1A, PI1, alpha-1-antitrypsin, A1AT, alpha1AT	uc010aux.3	P01009	OTTHUMG00000150355	ENST00000448921.1:c.465G>A	14.37:g.94849110C>T						SERPINA1_ENST00000437397.1_Silent_p.L155L|SERPINA1_ENST00000440909.1_Silent_p.L155L|SERPINA1_ENST00000355814.4_Silent_p.L155L|SERPINA1_ENST00000393088.4_Silent_p.L155L|SERPINA1_ENST00000402629.1_Silent_p.L155L|SERPINA1_ENST00000449399.3_Silent_p.L155L|SERPINA1_ENST00000393087.4_Silent_p.L155L|SERPINA1_ENST00000404814.4_Silent_p.L155L	p.L155L	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	4	1037	-		all_cancers(154;0.0649)|all_epithelial(191;0.223)	155					A6PX14|B2RDQ8|Q0PVP5|Q13672|Q53XB8|Q5U0M1|Q7M4R2|Q86U18|Q86U19|Q96BF9|Q96ES1|Q9P1P0|Q9UCE6|Q9UCM3	Silent	SNP	ENST00000448921.1	37	c.465G>A	CCDS9925.1																																																																																				0.522	SERPINA1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317768.2	NM_001002235		40	92	0	0	0	1	0	40	92				
RAB35	11021	broad.mit.edu	37	12	120546229	120546229	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr12:120546229G>C	ENST00000229340.5	-	2	283	c.95C>G	c.(94-96)aCt>aGt	p.T32S	RAB35_ENST00000534951.1_Missense_Mutation_p.T32S	NM_001167606.1|NM_006861.6	NP_001161078.1|NP_006852.1	Q15286	RAB35_HUMAN	RAB35, member RAS oncogene family	32					antigen processing and presentation (GO:0019882)|cellular response to nerve growth factor stimulus (GO:1990090)|cytokinesis (GO:0000910)|endosomal transport (GO:0016197)|GTP catabolic process (GO:0006184)|neuron projection development (GO:0031175)|plasma membrane to endosome transport (GO:0048227)|protein localization (GO:0008104)|protein localization to endosome (GO:0036010)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cell projection membrane (GO:0031253)|clathrin-coated endocytic vesicle (GO:0045334)|coated pit (GO:0005905)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|intercellular bridge (GO:0045171)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(1)|ovary(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.248)		ACCTGAGAAAGTGTTGTCTGC	0.572																																						ENST00000229340.5																			0				endometrium(1)|ovary(1)	2						c.(94-96)aCt>aGt		RAB35, member RAS oncogene family							62.0	63.0	63.0					12																	120546229		1979	4159	6138	SO:0001583	missense	11021				cytokinesis|endosome transport|protein transport|small GTPase mediated signal transduction	cell projection membrane|clathrin-coated endocytic vesicle|coated pit|endosome|intercellular bridge|melanosome	GTP binding|GTPase activity|phosphatidylinositol-4,5-bisphosphate binding	g.chr12:120546229G>C	X79781	CCDS41846.1, CCDS53836.1	12q24	2008-07-28			ENSG00000111737	ENSG00000111737		"""RAB, member RAS oncogene"""	9774	protein-coding gene	gene with protein product		604199					Standard	NM_001167606		Approved	H-ray	uc009zww.2	Q15286	OTTHUMG00000169159	ENST00000229340.5:c.95C>G	12.37:g.120546229G>C	ENSP00000229340:p.Thr32Ser					RAB35_ENST00000534951.1_Missense_Mutation_p.T32S	p.T32S	NM_001167606.1|NM_006861.6	NP_001161078.1|NP_006852.1	Q15286	RAB35_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.248)	2	283	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		32					B2R6E0|B4E390	Missense_Mutation	SNP	ENST00000229340.5	37	c.95C>G	CCDS41846.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.871806	0.51695	.	.	ENSG00000111737	ENST00000229340;ENST00000427416;ENST00000534951;ENST00000538903	T;T;T	0.76448	-1.02;-1.02;-1.02	5.66	5.66	0.87406	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.60728	0.2291	N	0.10664	0.02	0.80722	D	1	B;B	0.09022	0.002;0.001	B;B	0.13407	0.008;0.009	T	0.58645	-0.7600	10	0.07990	T	0.79	.	19.7561	0.96291	0.0:0.0:1.0:0.0	.	32;32	B4E390;Q15286	.;RAB35_HUMAN	S	32	ENSP00000229340:T32S;ENSP00000441883:T32S;ENSP00000443994:T32S	ENSP00000229340:T32S	T	-	2	0	RAB35	119030612	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.395000	0.97266	2.684000	0.91462	0.508000	0.49915	ACT		0.572	RAB35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402599.2			12	48	0	0	0	1	0	12	48				
MTMR3	8897	broad.mit.edu	37	22	30421720	30421720	+	Missense_Mutation	SNP	G	G	C	rs552767539		TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr22:30421720G>C	ENST00000401950.2	+	20	3869	c.3527G>C	c.(3526-3528)aGc>aCc	p.S1176T	MTMR3_ENST00000323630.5_Missense_Mutation_p.S1040T|MTMR3_ENST00000406629.1_Missense_Mutation_p.S1148T|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000333027.3_Missense_Mutation_p.S1148T|CTA-85E5.10_ENST00000453743.2_RNA|MTMR3_ENST00000351488.3_Missense_Mutation_p.S1139T	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	1176					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TCTTGCTATAGCAGCCTACAT	0.512													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20826	0.0		0.0	False		,,,				2504	0.0					ENST00000333027.3																			0				breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17						c.(3442-3444)aGc>aCc		myotubularin related protein 3							132.0	113.0	120.0					22																	30421720		2203	4300	6503	SO:0001583	missense	8897				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:30421720G>C	U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.3527G>C	22.37:g.30421720G>C	ENSP00000384651:p.Ser1176Thr					MTMR3_ENST00000406629.1_Missense_Mutation_p.S1148T|MTMR3_ENST00000401950.2_Missense_Mutation_p.S1176T|MTMR3_ENST00000351488.3_Missense_Mutation_p.S1139T|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000323630.5_Missense_Mutation_p.S1040T	p.S1148T	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)		20	3771	+			1176					A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Missense_Mutation	SNP	ENST00000401950.2	37	c.3443G>C	CCDS13870.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.101012	0.37048	.	.	ENSG00000100330	ENST00000401950;ENST00000333027;ENST00000323630;ENST00000351488;ENST00000406629	T;T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65;-0.65	4.93	3.89	0.44902	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.087831	0.85682	D	0.000000	T	0.56140	0.1965	L	0.28192	0.835	0.45330	D	0.998327	P;P;P	0.48998	0.9;0.918;0.9	B;B;B	0.43990	0.311;0.438;0.228	T	0.52434	-0.8576	10	0.30078	T	0.28	.	8.7421	0.34564	0.0819:0.1503:0.7678:0.0	.	1139;1176;1148	Q13615-3;Q13615;Q13615-2	.;MTMR3_HUMAN;.	T	1176;1148;1040;1139;1148	ENSP00000384651:S1176T;ENSP00000331649:S1148T;ENSP00000318070:S1040T;ENSP00000307271:S1139T;ENSP00000384077:S1148T	ENSP00000318070:S1040T	S	+	2	0	MTMR3	28751720	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.931000	0.56529	2.587000	0.87381	0.655000	0.94253	AGC		0.512	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090		29	125	0	0	0	1	0	29	125				
RYR3	6263	broad.mit.edu	37	15	33955887	33955887	+	Silent	SNP	G	G	A	rs199615159	byFrequency	TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr15:33955887G>A	ENST00000389232.4	+	36	5638	c.5568G>A	c.(5566-5568)gcG>gcA	p.A1856A	RYR3_ENST00000415757.3_Silent_p.A1856A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1856	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACATGTCTGCGGCCCTGACTG	0.552													G|||	3	0.000599042	0.0023	0.0	5008	,	,		18724	0.0		0.0	False		,,,				2504	0.0					ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(5566-5568)gcG>gcA		ryanodine receptor 3							40.0	40.0	40.0					15																	33955887		2004	4168	6172	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33955887G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.5568G>A	15.37:g.33955887G>A						RYR3_ENST00000415757.3_Silent_p.A1856A	p.A1856A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	36	5638	+		all_lung(180;7.18e-09)	1856			4 X approximate repeats.		O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.5568G>A	CCDS45210.1																																																																																				0.552	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			13	11	0	0	0	1	0	13	11				
TENM2	57451	broad.mit.edu	37	5	167379648	167379648	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr5:167379648C>G	ENST00000518659.1	+	4	807	c.768C>G	c.(766-768)caC>caG	p.H256Q	TENM2_ENST00000520394.1_Missense_Mutation_p.H65Q|TENM2_ENST00000403607.2_Missense_Mutation_p.H89Q|TENM2_ENST00000520393.1_3'UTR|CTC-353G13.1_ENST00000523050.1_RNA|TENM2_ENST00000519204.1_Missense_Mutation_p.H135Q|TENM2_ENST00000545108.1_Missense_Mutation_p.H256Q	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	256	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										CACCCCCTCACAACCACACGC	0.597																																						ENST00000519204.1																			0											c.(403-405)caC>caG		teneurin transmembrane protein 2							82.0	95.0	90.0					5																	167379648		2162	4259	6421	SO:0001583	missense	57451							g.chr5:167379648C>G	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.768C>G	5.37:g.167379648C>G	ENSP00000429430:p.His256Gln					TENM2_ENST00000520393.1_3'UTR|TENM2_ENST00000520394.1_Missense_Mutation_p.H65Q|TENM2_ENST00000545108.1_Missense_Mutation_p.H256Q|TENM2_ENST00000403607.2_Missense_Mutation_p.H89Q|TENM2_ENST00000518659.1_Missense_Mutation_p.H256Q|CTC-353G13.1_ENST00000523050.1_RNA	p.H135Q							3	523	+								Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.405C>G		.	.	.	.	.	.	.	.	.	.	C	11.80	1.747928	0.30955	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03	5.33	3.44	0.39384	Teneurin intracellular, N-terminal (2);	0.292537	0.36519	N	0.002558	T	0.52725	0.1752	L	0.52126	1.63	0.41831	D	0.990073	D;D;D	0.69078	0.968;0.96;0.997	D;D;D	0.75484	0.967;0.944;0.986	T	0.46816	-0.9164	10	0.40728	T	0.16	.	7.979	0.30172	0.0:0.7446:0.0:0.2554	.	256;65;135	Q9NT68;F8VNQ3;G3V106	TEN2_HUMAN;.;.	Q	256;256;135;65;89	ENSP00000429430:H256Q;ENSP00000438635:H256Q;ENSP00000428964:H135Q;ENSP00000427874:H65Q;ENSP00000384905:H89Q	ENSP00000384905:H89Q	H	+	3	2	ODZ2	167312226	1.000000	0.71417	1.000000	0.80357	0.469000	0.32828	3.079000	0.50104	0.547000	0.28938	0.563000	0.77884	CAC		0.597	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		4	25	0	0	0	1	0	4	25				
ST3GAL2	6483	broad.mit.edu	37	16	70432112	70432112	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr16:70432112C>A	ENST00000393640.4	-	1	2429	c.322G>T	c.(322-324)Gtc>Ttc	p.V108F	ST3GAL2_ENST00000342907.2_Missense_Mutation_p.V108F|ST3GAL2_ENST00000566097.1_5'Flank|RP11-529K1.4_ENST00000566960.1_RNA			Q16842	SIA4B_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 2	108					amino sugar metabolic process (GO:0006040)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	11		Ovarian(137;0.0694)				CACCTCTGGACGTCCGGTGGA	0.592																																						ENST00000393640.4																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	11						c.(322-324)Gtc>Ttc		ST3 beta-galactoside alpha-2,3-sialyltransferase 2							57.0	53.0	54.0					16																	70432112		2198	4300	6498	SO:0001583	missense	6483				amino sugar metabolic process	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	g.chr16:70432112C>A	U63090	CCDS10890.1	16q22.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000157350	ENSG00000157350	2.4.99.4	"""Sialyltransferases"""	10863	protein-coding gene	gene with protein product		607188	"""sialyltransferase 4B (beta-galactosidase alpha-2,3-sialytransferase)"""	SIAT4B		9266697, 8920913	Standard	NM_006927		Approved	ST3GALII, ST3GalA.2	uc002eyx.2	Q16842	OTTHUMG00000137580	ENST00000393640.4:c.322G>T	16.37:g.70432112C>A	ENSP00000377257:p.Val108Phe					ST3GAL2_ENST00000342907.2_Missense_Mutation_p.V108F|RP11-529K1.4_ENST00000566960.1_RNA	p.V108F			Q16842	SIA4B_HUMAN			1	2429	-		Ovarian(137;0.0694)	108					O00654	Missense_Mutation	SNP	ENST00000393640.4	37	c.322G>T	CCDS10890.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.970120	0.92855	.	.	ENSG00000157350	ENST00000342907;ENST00000393640	T;T	0.35421	1.31;1.31	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.52451	0.1735	L	0.52573	1.65	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.37979	-0.9682	10	0.10636	T	0.68	-1.8319	18.5907	0.91210	0.0:1.0:0.0:0.0	.	108	Q16842	SIA4B_HUMAN	F	108	ENSP00000345477:V108F;ENSP00000377257:V108F	ENSP00000345477:V108F	V	-	1	0	ST3GAL2	68989613	1.000000	0.71417	0.988000	0.46212	0.959000	0.62525	7.637000	0.83313	2.494000	0.84150	0.561000	0.74099	GTC		0.592	ST3GAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268968.1	NM_006927		6	77	1	0	2.7689e-08	1	2.85938e-08	6	77				
ROBO2	6092	broad.mit.edu	37	3	77645827	77645827	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr3:77645827C>G	ENST00000461745.1	+	19	3680	c.2780C>G	c.(2779-2781)tCt>tGt	p.S927C	ROBO2_ENST00000332191.8_Missense_Mutation_p.S927C|ROBO2_ENST00000487694.3_Missense_Mutation_p.S943C	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	927					apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CTTGCTGATTCTTGGCCAGCC	0.438																																						ENST00000461745.1																			0				NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(2779-2781)tCt>tGt		roundabout, axon guidance receptor, homolog 2 (Drosophila)							118.0	117.0	118.0					3																	77645827		1850	4109	5959	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77645827C>G	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.2780C>G	3.37:g.77645827C>G	ENSP00000417164:p.Ser927Cys					ROBO2_ENST00000487694.3_Missense_Mutation_p.S943C|ROBO2_ENST00000332191.8_Missense_Mutation_p.S927C	p.S927C	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	19	3680	+			927					O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.2780C>G	CCDS43109.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	17.94|17.94|17.94	3.511370|3.511370|3.511370	0.64522|0.64522|0.64522	.|.|.	.|.|.	ENSG00000185008|ENSG00000185008|ENSG00000185008	ENST00000471893|ENST00000490991|ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191	.|.|T;T;T	.|.|0.68479	.|.|-0.33;-0.29;-0.24	6.16|6.16|6.16	6.16|6.16|6.16	0.99307|0.99307|0.99307	.|.|.	.|.|0.000000	.|.|0.42294	.|.|D	.|.|0.000725	D|D|D	0.82774|0.82774|0.82774	0.5110|0.5110|0.5110	M|M|M	0.69823|0.69823|0.69823	2.125|2.125|2.125	.|.|.	.|.|.	.|.|.	.|.|D;D;D	.|.|0.89917	.|.|1.0;1.0;1.0	.|.|D;D;D	.|.|0.91635	.|.|0.998;0.999;0.999	T|T|T	0.82476|0.82476|0.82476	-0.0438|-0.0438|-0.0438	4|4|9	.|.|0.87932	.|.|D	.|.|0	.|.|.	20.8598|20.8598|20.8598	0.99761|0.99761|0.99761	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|.|943;927;927	.|.|Q19AB5;F8W703;Q9HCK4	.|.|.;.;ROBO2_HUMAN	L|V|C	1|84|943;943;947;927;927	.|.|ENSP00000417335:S943C;ENSP00000417164:S927C;ENSP00000327536:S927C	.|.|ENSP00000327536:S927C	F|L|S	+|+|+	3|1|2	2|0|0	ROBO2|ROBO2|ROBO2	77728517|77728517|77728517	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.934000|0.934000|0.934000	0.37439|0.37439|0.37439	0.710000|0.710000|0.710000	0.40934|0.40934|0.40934	7.270000|7.270000|7.270000	0.78493|0.78493|0.78493	2.937000|2.937000|2.937000	0.99478|0.99478|0.99478	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	TTC|CTT|TCT		0.438	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		30	231	0	0	0	1	0	30	231				
KIAA1217	56243	broad.mit.edu	37	10	24834864	24834864	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr10:24834864C>G	ENST00000376454.3	+	21	5473	c.5443C>G	c.(5443-5445)Ctg>Gtg	p.L1815V	KIAA1217_ENST00000376451.2_3'UTR|KIAA1217_ENST00000376462.1_Missense_Mutation_p.L1136V|KIAA1217_ENST00000376452.3_Missense_Mutation_p.L1246V|KIAA1217_ENST00000458595.1_Missense_Mutation_p.L1221V|KIAA1217_ENST00000396445.1_3'UTR	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1815	Ser-rich. {ECO:0000255}.				embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AAGCAGTTCTCTGCCCTCTTC	0.512																																						ENST00000376454.3																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(5443-5445)Ctg>Gtg		KIAA1217							169.0	169.0	169.0					10																	24834864		2203	4300	6503	SO:0001583	missense	56243				embryonic skeletal system development	cytoplasm		g.chr10:24834864C>G	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.5443C>G	10.37:g.24834864C>G	ENSP00000365637:p.Leu1815Val					KIAA1217_ENST00000376451.2_3'UTR|KIAA1217_ENST00000458595.1_Missense_Mutation_p.L1221V|KIAA1217_ENST00000376452.3_Missense_Mutation_p.L1246V|KIAA1217_ENST00000376462.1_Missense_Mutation_p.L1136V|KIAA1217_ENST00000396445.1_3'UTR	p.L1815V	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN			21	5473	+			1815			Ser-rich.		A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	c.5443C>G	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	C	9.793	1.178504	0.21787	.	.	ENSG00000120549	ENST00000376462;ENST00000458595;ENST00000376454;ENST00000376452;ENST00000450158	T;T;T;T	0.29397	1.57;1.57;2.0;1.57	5.53	2.29	0.28610	.	0.618073	0.15615	N	0.253187	T	0.15349	0.0370	L	0.27053	0.805	0.09310	N	1	B;B;B;B	0.27971	0.023;0.196;0.041;0.023	B;B;B;B	0.24269	0.007;0.052;0.016;0.007	T	0.17623	-1.0363	10	0.12766	T	0.61	.	4.188	0.10407	0.1459:0.364:0.4006:0.0895	.	1221;1246;1815;1216	Q5T5P2-7;A6NLF3;Q5T5P2;Q5T5P2-2	.;.;SKT_HUMAN;.	V	1136;1221;1815;1246;1404	ENSP00000365645:L1136V;ENSP00000392625:L1221V;ENSP00000365637:L1815V;ENSP00000365635:L1246V	ENSP00000365635:L1246V	L	+	1	2	KIAA1217	24874870	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.197000	0.32211	1.276000	0.44395	0.650000	0.86243	CTG		0.512	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		39	203	0	0	0	1	0	39	203				
TIGD4	201798	broad.mit.edu	37	4	153691335	153691335	+	Silent	SNP	C	C	T			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr4:153691335C>T	ENST00000304337.2	-	2	1642	c.822G>A	c.(820-822)gaG>gaA	p.E274E		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	274	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					CTTGAAATTCCTCATCAAGCT	0.398																																						ENST00000304337.2																			0				breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26						c.(820-822)gaG>gaA		tigger transposable element derived 4							129.0	135.0	133.0					4																	153691335		2203	4300	6503	SO:0001819	synonymous_variant	201798				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding	g.chr4:153691335C>T	AK058054	CCDS34079.1	4q31.23	2008-02-05							18335	protein-coding gene	gene with protein product							Standard	NM_145720		Approved		uc003imy.3	Q8IY51		ENST00000304337.2:c.822G>A	4.37:g.153691335C>T							p.E274E	NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN			2	1642	-	all_hematologic(180;0.093)		274			DDE.		Q96LP5	Silent	SNP	ENST00000304337.2	37	c.822G>A	CCDS34079.1																																																																																				0.398	TIGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365028.1	NM_145720		33	197	0	0	0	1	0	33	197				
CASS4	57091	broad.mit.edu	37	20	55027547	55027547	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr20:55027547G>A	ENST00000360314.3	+	6	1540	c.1315G>A	c.(1315-1317)Gtg>Atg	p.V439M	CASS4_ENST00000371336.3_Missense_Mutation_p.V439M|CASS4_ENST00000434344.1_Intron	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	439					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)	p.V439M(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						GGACCTGGATGTGGCCAAGGA	0.567																																						ENST00000371336.3																			1	Substitution - Missense(1)	p.V439M(1)	lung(1)	breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						c.(1315-1317)Gtg>Atg		Cas scaffolding protein family member 4							54.0	46.0	49.0					20																	55027547		2203	4300	6503	SO:0001583	missense	57091				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity	g.chr20:55027547G>A	AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"""Cas scaffolding proteins"""	15878	protein-coding gene	gene with protein product	"""HEF-like protein"", ""HEF1-Efs-p130Cas-like"""		"""chromosome 20 open reading frame 32"""	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.1315G>A	20.37:g.55027547G>A	ENSP00000353462:p.Val439Met					CASS4_ENST00000360314.3_Missense_Mutation_p.V439M|CASS4_ENST00000434344.1_Intron	p.V439M	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN			5	1516	+			439					E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Missense_Mutation	SNP	ENST00000360314.3	37	c.1315G>A	CCDS33492.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.531202	0.27387	.	.	ENSG00000087589	ENST00000360314;ENST00000371336	T;T	0.23348	1.91;1.91	5.6	-7.15	0.01521	Serine rich protein interaction (1);	0.835435	0.10706	N	0.643440	T	0.12178	0.0296	L	0.29908	0.895	0.09310	N	1	B;B;B	0.26002	0.139;0.053;0.036	B;B;B	0.24541	0.054;0.009;0.016	T	0.19647	-1.0299	10	0.45353	T	0.12	0.8593	2.8529	0.05563	0.2773:0.1232:0.421:0.1784	.	385;439;439	B4DII4;Q9NQ75-2;Q9NQ75	.;.;CASS4_HUMAN	M	439	ENSP00000353462:V439M;ENSP00000360387:V439M	ENSP00000353462:V439M	V	+	1	0	CASS4	54460954	0.000000	0.05858	0.003000	0.11579	0.823000	0.46562	-0.212000	0.09319	-1.279000	0.02405	-0.271000	0.10264	GTG		0.567	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079789.2	NM_020356		26	23	0	0	0	1	0	26	23				
MAGEE1	57692	broad.mit.edu	37	X	75651163	75651163	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chrX:75651163G>T	ENST00000361470.2	+	1	3118	c.2840G>T	c.(2839-2841)gGg>gTg	p.G947V		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	947	Interaction with DTNA. {ECO:0000250}.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						GCTGATGTTGGGCACAGGCAA	0.522																																						ENST00000361470.2																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						c.(2839-2841)gGg>gTg		melanoma antigen family E, 1							58.0	56.0	56.0					X																	75651163		2202	4300	6502	SO:0001583	missense	57692					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		g.chrX:75651163G>T	AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.2840G>T	X.37:g.75651163G>T	ENSP00000354912:p.Gly947Val						p.G947V	NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN			1	3118	+			947			Interaction with DTNA (By similarity).		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	ENST00000361470.2	37	c.2840G>T	CCDS14433.1	.	.	.	.	.	.	.	.	.	.	.	11.10	1.539957	0.27563	.	.	ENSG00000198934	ENST00000361470	T	0.07327	3.2	2.2	1.33	0.21861	.	.	.	.	.	T	0.08268	0.0206	N	0.22421	0.69	0.19300	N	0.99998	D	0.67145	0.996	P	0.51193	0.662	T	0.28138	-1.0053	9	0.72032	D	0.01	.	4.2208	0.10556	0.2128:0.0:0.7872:0.0	.	947	Q9HCI5	MAGE1_HUMAN	V	947	ENSP00000354912:G947V	ENSP00000354912:G947V	G	+	2	0	MAGEE1	75567567	0.008000	0.16893	0.023000	0.16930	0.997000	0.91878	0.460000	0.21924	0.369000	0.24510	0.525000	0.51046	GGG		0.522	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932		32	45	1	0	2.70662e-09	1	2.81346e-09	32	45				
NOP58	51602	broad.mit.edu	37	2	203162609	203162610	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr2:203162609_203162610delAG	ENST00000264279.5	+	12	1474_1475	c.1248_1249delAG	c.(1246-1251)acagaafs	p.E417fs		NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	417					cell growth (GO:0016049)|rRNA processing (GO:0006364)|snRNP protein import into nucleus (GO:0006608)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						TAGCAAAAACAGAAAAATATGA	0.257																																						ENST00000264279.5																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						c.(1246-1251)acaafs		NOP58 ribonucleoprotein																																				SO:0001589	frameshift_variant	51602				cell growth|rRNA processing|snRNP protein import into nucleus	box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex	protein binding|snoRNA binding	g.chr2:203162609_203162610delAG		CCDS2353.1	2q33.1	2012-12-10	2012-12-10		ENSG00000055044	ENSG00000055044			29926	protein-coding gene	gene with protein product			"""NOP58 ribonucleoprotein homolog (yeast)"""			10606270, 10925205	Standard	NM_015934		Approved	NOP5, HSPC120	uc002uzb.3	Q9Y2X3	OTTHUMG00000132840	ENST00000264279.5:c.1248_1249delAG	2.37:g.203162609_203162610delAG	ENSP00000264279:p.Glu417fs						p.TE416fs	NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN			12	1474_1475	+			416					Q53SA4|Q6PK08|Q9P036|Q9UFN3	Frame_Shift_Del	DEL	ENST00000264279.5	37	c.1248_1249delAG	CCDS2353.1																																																																																				0.257	NOP58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256313.2	NM_015934		10	93						10	93	---	---	---	---
ST3GAL6	10402	broad.mit.edu	37	3	98507067	98507068	+	Splice_Site	INS	-	-	T			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr3:98507067_98507068insT	ENST00000483910.1	+	7	907		c.e7+1		ST3GAL6_ENST00000265261.6_Splice_Site|ST3GAL6_ENST00000462152.1_Splice_Site|ST3GAL6_ENST00000394162.1_Splice_Site	NM_001271146.1	NP_001258075.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6						carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|cellular response to interleukin-6 (GO:0071354)|glycolipid metabolic process (GO:0006664)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,3-sialyltransferase activity (GO:0052798)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						TGACAAAATAGTAAGTAGGCAA	0.356																																						ENST00000265261.6																			0				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						c.e7+1		ST3 beta-galactoside alpha-2,3-sialyltransferase 6																																				SO:0001630	splice_region_variant	10402				amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity	g.chr3:98507067_98507068insT	AF119391	CCDS2933.1, CCDS59452.1, CCDS74968.1	3q12.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000064225	ENSG00000064225		"""Sialyltransferases"""	18080	protein-coding gene	gene with protein product		607156	"""sialyltransferase 10 (alpha-2,3-sialyltransferase VI)"""	SIAT10		10206952	Standard	NM_006100		Approved	ST3GALVI	uc010hpd.4	Q9Y274	OTTHUMG00000159047	ENST00000483910.1:c.618+1->T	3.37:g.98507068_98507068dupT						ST3GAL6_ENST00000394162.1_Splice_Site|ST3GAL6_ENST00000462152.1_Splice_Site|ST3GAL6_ENST00000483910.1_Splice_Site		NM_001271147.1	NP_001258076.1	Q9Y274	SIA10_HUMAN			7	686	+								B2RCH2|B3KMI1|D3DN39|F8W6U0	Splice_Site	INS	ENST00000483910.1	37		CCDS2933.1																																																																																				0.356	ST3GAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353013.2	NM_006100	Intron	63	89						63	89	---	---	---	---
PPP2R3A	5523	broad.mit.edu	37	3	135721813	135721815	+	In_Frame_Del	DEL	ATT	ATT	-			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr3:135721813_135721815delATT	ENST00000264977.3	+	2	2090_2092	c.1473_1475delATT	c.(1471-1476)aaattt>aat	p.491_492KF>N	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	491					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AAGTTTCTAAATTTGAAGAGGGA	0.335																																						ENST00000264977.3																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1471-1476)aat>aa		protein phosphatase 2, regulatory subunit B'', alpha																																				SO:0001651	inframe_deletion	5523				protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity	g.chr3:135721813_135721815delATT	L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	9307	protein-coding gene	gene with protein product		604944	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"""	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.1473_1475delATT	3.37:g.135721813_135721815delATT	ENSP00000264977:p.Lys491_Phe492delinsAsn					PPP2R3A_ENST00000490467.1_Intron	p.KF491del	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN			2	2090_2092	+			491					A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	In_Frame_Del	DEL	ENST00000264977.3	37	c.1473_1475delATT	CCDS3087.1																																																																																				0.335	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1	NM_002718		65	102						65	102	---	---	---	---
RP11-254I22.1	0	broad.mit.edu	37	5	95437716	95437716	+	lincRNA	DEL	G	G	-			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr5:95437716delG	ENST00000507997.1	+	0	87				CTD-2337A12.1_ENST00000502645.2_RNA|CTD-2337A12.1_ENST00000511775.1_RNA																							ggaagcctgagggggtgtgtt	0.582																																						ENST00000507997.1																			0																																																			0							g.chr5:95437716delG																													5.37:g.95437716delG						CTD-2337A12.1_ENST00000511775.1_RNA|CTD-2337A12.1_ENST00000502645.2_RNA								0	87	+									RNA	DEL	ENST00000507997.1	37																																																																																						0.582	RP11-254I22.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000370578.1			2	4						2	4	---	---	---	---
BTN2A3P	54718	broad.mit.edu	37	6	26426984	26426984	+	RNA	DEL	T	T	-	rs79308421|rs5875109		TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr6:26426984delT	ENST00000466808.2	+	0	1067							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)											GAACCTAGTCTTTTTTTTTTT	0.428																																						ENST00000466808.2																			0																																																			0							g.chr6:26426984delT	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26426984delT														0	1067	+								A6NEF4	RNA	DEL	ENST00000466808.2	37																																																																																						0.428	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		2	4						2	4	---	---	---	---
DPYS	1807	broad.mit.edu	37	8	105440214	105440214	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr8:105440214delT	ENST00000351513.2	-	6	1218	c.1086delA	c.(1084-1086)aaafs	p.K362fs	AP003471.2_ENST00000410226.1_RNA	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	362					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCACCACGCCTTTTTCCCATA	0.478																																						ENST00000351513.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1084-1086)aafs		dihydropyrimidinase							179.0	176.0	177.0					8																	105440214		2203	4300	6503	SO:0001589	frameshift_variant	1807				protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	g.chr8:105440214delT	D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.1086delA	8.37:g.105440214delT	ENSP00000276651:p.Lys362fs						p.K362fs	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		6	1218	-			362						Frame_Shift_Del	DEL	ENST00000351513.2	37	c.1086delA	CCDS6302.1																																																																																				0.478	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385		7	362						7	362	---	---	---	---
C11orf63	79864	broad.mit.edu	37	11	122805551	122805554	+	Frame_Shift_Del	DEL	AAAG	AAAG	-			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr11:122805551_122805554delAAAG	ENST00000531316.1	+	4	1494_1497	c.1402_1405delAAAG	c.(1402-1407)aaagaafs	p.KE468fs	C11orf63_ENST00000227349.2_Frame_Shift_Del_p.KE468fs			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	468					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GAATGTTAATAAAGAAAGAGGACA	0.377																																						ENST00000227349.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(1402-1407)aafs		chromosome 11 open reading frame 63																																				SO:0001589	frameshift_variant	79864							g.chr11:122805551_122805554delAAAG	BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.1402_1405delAAAG	11.37:g.122805555_122805558delAAAG	ENSP00000431669:p.Lys468fs					C11orf63_ENST00000531316.1_Frame_Shift_Del_p.KE468fs	p.KE468fs	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)	5	1699_1702	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	468					A8K6G0|Q96GB5|Q9H5D6	Frame_Shift_Del	DEL	ENST00000531316.1	37	c.1402_1405delAAAG	CCDS8438.1																																																																																				0.377	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1	NM_024806		32	159						32	159	---	---	---	---
MYO15A	51168	broad.mit.edu	37	17	18055210	18055210	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr17:18055210delC	ENST00000205890.5	+	41	8176	c.7838delC	c.(7837-7839)gccfs	p.A2613fs	MYO15A_ENST00000418233.3_5'Flank|MYO15A_ENST00000585180.1_5'Flank	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2613	Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CATGAGGAGGCCCTGATGATC	0.597																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(7837-7839)gcfs		myosin XVA							41.0	45.0	44.0					17																	18055210		1989	4164	6153	SO:0001589	frameshift_variant	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18055210delC	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.7838delC	17.37:g.18055210delC	ENSP00000205890:p.Ala2613fs						p.A2613fs	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			41	8176	+	all_neural(463;0.228)		2613			Tail.		B4DFC7	Frame_Shift_Del	DEL	ENST00000205890.5	37	c.7838delC	CCDS42271.1																																																																																				0.597	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		2	4						2	4	---	---	---	---
TANC2	26115	broad.mit.edu	37	17	61483525	61483525	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr17:61483525delT	ENST00000424789.2	+	19	3258	c.3254delT	c.(3253-3255)cttfs	p.L1087fs	AC015923.1_ENST00000431604.1_RNA|TANC2_ENST00000389520.4_Frame_Shift_Del_p.L1087fs|RP11-269G24.3_ENST00000583552.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1087					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						ATTGTTGATCTTTTACTCACC	0.502											OREG0024637	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000424789.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						c.(3253-3255)ctfs		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2							76.0	75.0	75.0					17																	61483525		1988	4184	6172	SO:0001589	frameshift_variant	26115						binding	g.chr17:61483525delT	AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.3254delT	17.37:g.61483525delT	ENSP00000387593:p.Leu1087fs		OREG0024637	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1054	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Frame_Shift_Del_p.L1087fs|AC015923.1_ENST00000431604.1_RNA	p.L1087fs	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN			19	3258	+			1087					Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Frame_Shift_Del	DEL	ENST00000424789.2	37	c.3254delT	CCDS45754.1																																																																																				0.502	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1			36	67						36	67	---	---	---	---
BAHCC1	57597	broad.mit.edu	37	17	79428112	79428116	+	Frame_Shift_Del	DEL	GCACA	GCACA	-			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr17:79428112_79428116delGCACA	ENST00000307745.7	+	30	6423_6427	c.6423_6427delGCACA	c.(6421-6429)gtgcacagcfs	p.HS2142fs	RP11-1055B8.8_ENST00000572590.1_RNA																							TGTTCCCCGTGCACAGCGTGGCCAC	0.707																																						ENST00000307745.7																			0											c.(6421-6429)gtgcfs																																						SO:0001589	frameshift_variant	0							g.chr17:79428112_79428116delGCACA																												ENST00000307745.7:c.6423_6427delGCACA	17.37:g.79428112_79428116delGCACA	ENSP00000303486:p.His2142fs					RP11-1055B8.8_ENST00000572590.1_RNA	p.VHS2141fs							30	6423_6427	+									Frame_Shift_Del	DEL	ENST00000307745.7	37	c.6423_6427delGCACA																																																																																					0.707	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				12	20						12	20	---	---	---	---
CIC	23152	broad.mit.edu	37	19	42794734	42794735	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr19:42794734_42794735delGT	ENST00000575354.2	+	10	1854_1855	c.1814_1815delGT	c.(1813-1815)agtfs	p.S605fs	CIC_ENST00000572681.2_Frame_Shift_Del_p.S1514fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.S605fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	605	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.V606fs*83(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AGACCCGAAAGTGTGGGTGGCC	0.673			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		1	Deletion - Frameshift(1)	p.V606fs*83(1)	central_nervous_system(1)	autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(4540-4542)afs		capicua transcriptional repressor																																				SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42794734_42794735delGT	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.1814_1815delGT	19.37:g.42794736_42794737delGT	ENSP00000458663:p.Ser605fs					CIC_ENST00000575354.2_Frame_Shift_Del_p.S605fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.S605fs	p.S1514fs			Q96RK0	CIC_HUMAN			11	4609_4610	+		Prostate(69;0.00682)	605					Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Del	DEL	ENST00000575354.2	37	c.4541_4542delGT	CCDS12601.1																																																																																				0.673	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			65	55						65	55	---	---	---	---
GRIA3	2892	broad.mit.edu	37	X	122551721	122551721	+	Intron	DEL	T	T	-			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chrX:122551721delT	ENST00000371251.1	+	11	1929				GRIA3_ENST00000541091.1_Frame_Shift_Del_p.F642fs|GRIA3_ENST00000371256.5_Intron|GRIA3_ENST00000542149.1_Intron|GRIA3_ENST00000264357.5_Intron			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3						glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	CAACTCCAGATTTTTTTCATT	0.358																																						ENST00000541091.1																			0				breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57						c.(1921-1923)ttfs		glutamate receptor, ionotropic, AMPA 3	L-Glutamic Acid(DB00142)																																			SO:0001627	intron_variant	2892				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chrX:122551721delT	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.1877+92T>-	X.37:g.122551721delT						GRIA3_ENST00000542149.1_Intron|GRIA3_ENST00000371251.1_Intron|GRIA3_ENST00000264357.5_Intron|GRIA3_ENST00000371256.5_Intron	p.F642fs			P42263	GRIA3_HUMAN			11	1948	+			0					D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Frame_Shift_Del	DEL	ENST00000371251.1	37	c.1921delT	CCDS14604.1																																																																																				0.358	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		18	59						18	59	---	---	---	---
