#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
LONRF2	164832	broad.mit.edu	37	2	100903492	100903492	+	Missense_Mutation	SNP	G	G	C	rs371304900		TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr2:100903492G>C	ENST00000393437.3	-	11	2593	c.1954C>G	c.(1954-1956)Ctc>Gtc	p.L652V	LONRF2_ENST00000409647.1_Missense_Mutation_p.L409V	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	652	Lon.						ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						GAATCGTGGAGAGCGGCAAGT	0.488																																						ENST00000393437.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						c.(1954-1956)Ctc>Gtc		LON peptidase N-terminal domain and ring finger 2		G	VAL/LEU	0,4406		0,0,2203	107.0	81.0	90.0		1954	4.1	0.0	2		90	1,8599	1.2+/-3.3	0,1,4299	no	missense	LONRF2	NM_198461.3	32	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	probably-damaging	652/755	100903492	1,13005	2203	4300	6503	SO:0001583	missense	164832				proteolysis		ATP-dependent peptidase activity|zinc ion binding	g.chr2:100903492G>C	AK127206	CCDS2046.2	2q11.2	2013-01-09			ENSG00000170500	ENSG00000170500		"""RING-type (C3HC4) zinc fingers"""	24788	protein-coding gene	gene with protein product							Standard	NM_198461		Approved	FLJ45273, RNF192	uc002tal.4	Q1L5Z9	OTTHUMG00000130668	ENST00000393437.3:c.1954C>G	2.37:g.100903492G>C	ENSP00000377086:p.Leu652Val					LONRF2_ENST00000409647.1_Missense_Mutation_p.L409V	p.L652V	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN			11	2593	-			652			Lon.		B9A006|Q6ZSR4	Missense_Mutation	SNP	ENST00000393437.3	37	c.1954C>G	CCDS2046.2	.	.	.	.	.	.	.	.	.	.	G	13.17	2.158628	0.38119	0.0	1.16E-4	ENSG00000170500	ENST00000393437;ENST00000409647	T;T	0.42131	0.98;0.98	4.95	4.07	0.47477	Peptidase S16, lon N-terminal (1);PUA-like domain (1);	0.073467	0.56097	D	0.000030	T	0.64907	0.2641	M	0.80746	2.51	0.51482	D	0.999927	D	0.89917	1.0	D	0.83275	0.996	T	0.68746	-0.5327	10	0.59425	D	0.04	-17.7526	12.9931	0.58632	0.0783:0.0:0.9217:0.0	.	652	Q1L5Z9	LONF2_HUMAN	V	652;409	ENSP00000377086:L652V;ENSP00000386823:L409V	ENSP00000377086:L652V	L	-	1	0	LONRF2	100269924	1.000000	0.71417	0.011000	0.14972	0.007000	0.05969	4.270000	0.58896	1.069000	0.40788	0.655000	0.94253	CTC		0.488	LONRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253161.2	NM_198461		3	35	0	0	0	0.115264	0	3	35				
EPPK1	83481	broad.mit.edu	37	8	144940615	144940615	+	Silent	SNP	G	G	A			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr8:144940615G>A	ENST00000525985.1	-	2	6878	c.6807C>T	c.(6805-6807)acC>acT	p.T2269T				P58107	EPIPL_HUMAN	epiplakin 1	2269						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGACGAAGCCGGTGGCCGCCT	0.716																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6805-6807)acC>acT		epiplakin 1							36.0	36.0	36.0					8																	144940615		2150	4233	6383	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940615G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6807C>T	8.37:g.144940615G>A							p.T2269T			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	6878	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2269					Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.6807C>T																																																																																					0.716	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		7	55	0	0	0	0.248553	0	7	55				
SHROOM3	57619	broad.mit.edu	37	4	77700311	77700311	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr4:77700311C>T	ENST00000296043.6	+	11	6925	c.5972C>T	c.(5971-5973)aCa>aTa	p.T1991I	RP11-359D14.3_ENST00000449007.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1991					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			ATTTTCCCAACATTAACCTCT	0.448																																						ENST00000296043.6																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60						c.(5971-5973)aCa>aTa		shroom family member 3							59.0	61.0	60.0					4																	77700311		2203	4300	6503	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77700311C>T	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.5972C>T	4.37:g.77700311C>T	ENSP00000296043:p.Thr1991Ile					RP11-359D14.3_ENST00000449007.1_RNA	p.T1991I	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		11	6925	+			1991					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.5972C>T	CCDS3579.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.22|13.22	2.172615|2.172615	0.38413|0.38413	.|.	.|.	ENSG00000138771|ENSG00000138771	ENST00000264907|ENST00000296043	.|T	.|0.23754	.|1.89	4.76|4.76	4.76|4.76	0.60689|0.60689	.|.	.|1.262800	.|0.05565	.|N	.|0.570102	T|T	0.24005|0.24005	0.0581|0.0581	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	.|P	.|0.40476	.|0.718	.|B	.|0.33890	.|0.172	T|T	0.49153|0.49153	-0.8969|-0.8969	6|10	0.87932|0.62326	D|D	0|0.03	-0.7361|-0.7361	18.0389|18.0389	0.89313|0.89313	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1991	.|Q8TF72	.|SHRM3_HUMAN	Y|I	258|1991	.|ENSP00000296043:T1991I	ENSP00000264907:H258Y|ENSP00000296043:T1991I	H|T	+|+	1|2	0|0	SHROOM3|SHROOM3	77919335|77919335	0.187000|0.187000	0.23238|0.23238	0.005000|0.005000	0.12908|0.12908	0.024000|0.024000	0.10985|0.10985	5.496000|5.496000	0.66918|0.66918	2.498000|2.498000	0.84270|0.84270	0.586000|0.586000	0.80456|0.80456	CAT|ACA		0.448	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		4	51	0	0	0	0.150653	0	4	51				
PCDH9	5101	broad.mit.edu	37	13	67801027	67801027	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr13:67801027C>T	ENST00000377865.2	-	1	1680	c.1546G>A	c.(1546-1548)Gat>Aat	p.D516N	PCDH9_ENST00000456367.1_Missense_Mutation_p.D516N|PCDH9_ENST00000328454.5_Missense_Mutation_p.D516N|PCDH9_ENST00000544246.1_Missense_Mutation_p.D516N|PCDH9_ENST00000377861.3_Missense_Mutation_p.D516N			Q9HC56	PCDH9_HUMAN	protocadherin 9	516	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CGGTCCAGATCAAAGAAGGAG	0.433																																						ENST00000544246.1																			0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103						c.(1546-1548)Gat>Aat		protocadherin 9							97.0	100.0	99.0					13																	67801027		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67801027C>T	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.1546G>A	13.37:g.67801027C>T	ENSP00000367096:p.Asp516Asn					PCDH9_ENST00000377865.2_Missense_Mutation_p.D516N|PCDH9_ENST00000377861.3_Missense_Mutation_p.D516N|PCDH9_ENST00000456367.1_Missense_Mutation_p.D516N|PCDH9_ENST00000328454.5_Missense_Mutation_p.D516N	p.D516N	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	2237	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	516			Cadherin 5.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.1546G>A	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	C	9.065	0.995527	0.19043	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7	6.08	6.08	0.98989	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.25827	0.0629	N	0.01284	-0.91	0.80722	D	1	B;B;B;B	0.22909	0.004;0.004;0.077;0.015	B;B;B;B	0.22601	0.017;0.023;0.023;0.04	T	0.19289	-1.0310	10	0.31617	T	0.26	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	516;516;516;516	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	N	516	ENSP00000442186:D516N;ENSP00000367096:D516N;ENSP00000401699:D516N;ENSP00000332060:D516N;ENSP00000367092:D516N	ENSP00000332060:D516N	D	-	1	0	PCDH9	66699028	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.999000	0.70665	2.894000	0.99253	0.655000	0.94253	GAT		0.433	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		4	80	0	0	0	0.150653	0	4	80				
AP3B1	8546	broad.mit.edu	37	5	77452177	77452177	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr5:77452177C>T	ENST00000255194.6	-	14	1553	c.1378G>A	c.(1378-1380)Gaa>Aaa	p.E460K	AP3B1_ENST00000519295.1_Missense_Mutation_p.E411K	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	460					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		ACCACACTTTCAGCAACAACT	0.299									Hermansky-Pudlak syndrome																													ENST00000255194.6																			0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39						c.(1378-1380)Gaa>Aaa		adaptor-related protein complex 3, beta 1 subunit							120.0	117.0	118.0					5																	77452177		2202	4299	6501	SO:0001583	missense	8546	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity	g.chr5:77452177C>T	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.1378G>A	5.37:g.77452177C>T	ENSP00000255194:p.Glu460Lys					AP3B1_ENST00000519295.1_Missense_Mutation_p.E411K	p.E460K	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)	14	1553	-		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)	460					E5RJ68|O00580|Q7Z393|Q9HD66	Missense_Mutation	SNP	ENST00000255194.6	37	c.1378G>A	CCDS4041.1	.	.	.	.	.	.	.	.	.	.	C	34	5.336161	0.95758	.	.	ENSG00000132842	ENST00000255194;ENST00000519295;ENST00000535760;ENST00000535667	T;T	0.30448	1.53;1.53	5.38	5.38	0.77491	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.71048	0.3294	H	0.96916	3.905	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.81662	-0.0831	10	0.87932	D	0	-23.231	19.4894	0.95044	0.0:1.0:0.0:0.0	.	460	O00203	AP3B1_HUMAN	K	460;411;460;364	ENSP00000255194:E460K;ENSP00000430597:E411K	ENSP00000255194:E460K	E	-	1	0	AP3B1	77487933	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.741000	0.84997	2.676000	0.91093	0.563000	0.77884	GAA		0.299	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2			7	76	0	0	0	0.278610	0	7	76				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						ENST00000342960.5																			4	Substitution - coding silent(4)	p.K3445K(4)	prostate(3)|kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10333-10335)aaA>aaG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.K3445K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10370	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10335A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		3	86	0	0	0	0.115264	0	3	86				
PSG4	5672	broad.mit.edu	37	19	43702160	43702160	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr19:43702160A>G	ENST00000405312.3	-	3	935	c.698T>C	c.(697-699)cTg>cCg	p.L233P	PSG4_ENST00000433626.2_Intron|PSG4_ENST00000244295.9_Missense_Mutation_p.L233P	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	233	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GAGGAGATTCAGGGTGACTGG	0.527																																						ENST00000405312.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24						c.(697-699)cTg>cCg		pregnancy specific beta-1-glycoprotein 4							43.0	53.0	50.0					19																	43702160		2107	4239	6346	SO:0001583	missense	5672				defense response|female pregnancy	extracellular region		g.chr19:43702160A>G		CCDS33039.1, CCDS46093.1, CCDS62695.1	19q13.2	2013-01-29			ENSG00000243137	ENSG00000243137		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9521	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1-glycoprotein 4"""	176393				2783133	Standard	NM_002780		Approved		uc002ovy.4	Q00888	OTTHUMG00000151544	ENST00000405312.3:c.698T>C	19.37:g.43702160A>G	ENSP00000384770:p.Leu233Pro					PSG4_ENST00000433626.2_Intron|PSG4_ENST00000244295.9_Missense_Mutation_p.L233P	p.L233P	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN			3	935	-		Prostate(69;0.00682)	233			Ig-like C2-type 1.		E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Missense_Mutation	SNP	ENST00000405312.3	37	c.698T>C	CCDS46093.1	.	.	.	.	.	.	.	.	.	.	a	12.33	1.904836	0.33628	.	.	ENSG00000243137	ENST00000244295;ENST00000405312;ENST00000451895	T;T;T	0.19105	2.17;2.17;2.17	1.96	1.96	0.26148	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.46092	0.1375	M	0.89478	3.035	0.52501	D	0.999958	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.996	T	0.44483	-0.9325	9	0.87932	D	0	.	5.8507	0.18691	1.0:0.0:0.0:0.0	.	249;233;233	C9JWP2;Q00888-2;Q00888	.;.;PSG4_HUMAN	P	233;233;249	ENSP00000244295:L233P;ENSP00000384770:L233P;ENSP00000388134:L249P	ENSP00000244295:L233P	L	-	2	0	PSG4	48394000	0.025000	0.19082	0.236000	0.24074	0.024000	0.10985	1.403000	0.34612	0.914000	0.36822	0.341000	0.21757	CTG		0.527	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323073.1	NM_213633		5	300	0	0	0	0.217242	0	5	300				
ABCB7	22	broad.mit.edu	37	X	74293735	74293735	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chrX:74293735G>T	ENST00000373394.3	-	7	919	c.912C>A	c.(910-912)taC>taA	p.Y304*	ABCB7_ENST00000534570.1_5'UTR|ABCB7_ENST00000253577.3_Nonsense_Mutation_p.Y305*|ABCB7_ENST00000339447.4_Nonsense_Mutation_p.Y264*			O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	304	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						TGAATGCTGTGTATGTACCAA	0.373																																						ENST00000253577.3																			0				breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						c.(913-915)taC>taA		ATP-binding cassette, sub-family B (MDR/TAP), member 7							121.0	100.0	107.0					X																	74293735		2203	4300	6503	SO:0001587	stop_gained	22				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity	g.chrX:74293735G>T	AF038950	CCDS14428.1, CCDS65290.1, CCDS65291.1, CCDS75994.1	Xq13.3	2012-03-14			ENSG00000131269	ENSG00000131269		"""ATP binding cassette transporters / subfamily B"""	48	protein-coding gene	gene with protein product		300135		ABC7		9143506	Standard	NM_004299		Approved	EST140535, Atm1p, ASAT	uc004ebz.4	O75027	OTTHUMG00000021862	ENST00000373394.3:c.912C>A	X.37:g.74293735G>T	ENSP00000362492:p.Tyr304*					ABCB7_ENST00000534570.1_5'UTR|ABCB7_ENST00000373394.3_Nonsense_Mutation_p.Y304*|ABCB7_ENST00000339447.4_Nonsense_Mutation_p.Y264*	p.Y305*	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN			7	939	-			304			ABC transmembrane type-1.		G3XAC4|O75345|Q5VWY7|Q5VWY8|Q9BRE1|Q9UND1|Q9UP01	Nonsense_Mutation	SNP	ENST00000373394.3	37	c.915C>A		.	.	.	.	.	.	.	.	.	.	G	37	6.631738	0.97722	.	.	ENSG00000131269	ENST00000535115;ENST00000253577;ENST00000339447;ENST00000373394;ENST00000529949	.	.	.	5.23	3.04	0.35103	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.6288	8.4544	0.32890	0.3374:0.0:0.6626:0.0	.	.	.	.	X	278;305;264;304;278	.	ENSP00000253577:Y305X	Y	-	3	2	ABCB7	74210460	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	0.742000	0.26216	0.141000	0.18875	0.506000	0.49869	TAC		0.373	ABCB7-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000057274.1	NM_004299		4	55	1	0	0.00909568	0.150653	0.0104738	4	55				
LRP5	4041	broad.mit.edu	37	11	68181159	68181159	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr11:68181159C>T	ENST00000294304.7	+	12	2612	c.2506C>T	c.(2506-2508)Cag>Tag	p.Q836*		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	836	Beta-propeller 3.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCATGCAGGTCAGGAGCGGGT	0.607																																						ENST00000294304.7																			0				autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2506-2508)Cag>Tag		low density lipoprotein receptor-related protein 5							89.0	67.0	74.0					11																	68181159		2200	4294	6494	SO:0001587	stop_gained	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68181159C>T	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.2506C>T	11.37:g.68181159C>T	ENSP00000294304:p.Gln836*						p.Q836*	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN			12	2612	+			836			Beta-propeller 3.		Q96TD6|Q9UES7|Q9UP66	Nonsense_Mutation	SNP	ENST00000294304.7	37	c.2506C>T	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	C	38	6.686412	0.97764	.	.	ENSG00000162337	ENST00000294304	.	.	.	4.8	4.8	0.61643	.	0.321536	0.21837	U	0.068394	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.7412	0.62849	0.0:0.8459:0.1541:0.0	.	.	.	.	X	836	.	ENSP00000294304:Q836X	Q	+	1	0	LRP5	67937735	0.889000	0.30405	1.000000	0.80357	0.378000	0.30076	3.265000	0.51561	2.485000	0.83878	0.462000	0.41574	CAG		0.607	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		4	50	0	0	0	0.150653	0	4	50				
EGFLAM	133584	broad.mit.edu	37	5	38451448	38451448	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr5:38451448A>G	ENST00000354891.3	+	20	2945	c.2599A>G	c.(2599-2601)Agg>Ggg	p.R867G	EGFLAM_ENST00000336740.6_Missense_Mutation_p.R625G|EGFLAM_ENST00000322350.5_Missense_Mutation_p.R859G|EGFLAM_ENST00000514476.1_Missense_Mutation_p.R2G|EGFLAM_ENST00000397202.2_Missense_Mutation_p.R225G|EGFLAM_ENST00000397210.3_Missense_Mutation_p.R2G|EGFLAM_ENST00000506135.1_Missense_Mutation_p.R2G	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	867	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TGTGTTCATGAGGTTTAAAAC	0.473																																					Colon(62;485 1295 3347 17454)	ENST00000322350.5																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85						c.(2575-2577)Agg>Ggg		EGF-like, fibronectin type III and laminin G domains							217.0	197.0	204.0					5																	38451448		2203	4300	6503	SO:0001583	missense	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38451448A>G	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.2599A>G	5.37:g.38451448A>G	ENSP00000346964:p.Arg867Gly					EGFLAM_ENST00000336740.6_Missense_Mutation_p.R625G|EGFLAM_ENST00000354891.3_Missense_Mutation_p.R867G|EGFLAM_ENST00000397202.2_Missense_Mutation_p.R225G|EGFLAM_ENST00000514476.1_Missense_Mutation_p.R2G|EGFLAM_ENST00000506135.1_Missense_Mutation_p.R2G|EGFLAM_ENST00000397210.3_Missense_Mutation_p.R2G	p.R859G	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN			19	2921	+	all_lung(31;0.000385)		867			Laminin G-like 3.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	c.2575A>G	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	A	19.15	3.772459	0.69992	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000397202;ENST00000339580;ENST00000397210;ENST00000506135;ENST00000508131;ENST00000514476	T;T;T;T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-0.05;-0.05;-1.23;-0.05	5.78	3.3	0.37823	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	0.148946	0.64402	D	0.000020	D	0.83326	0.5230	L	0.60957	1.885	0.44825	D	0.997838	D;D;P	0.69078	0.997;0.973;0.93	D;P;P	0.64042	0.921;0.773;0.736	T	0.82484	-0.0434	10	0.56958	D	0.05	-10.5348	12.3629	0.55213	0.7329:0.2671:0.0:0.0	.	625;867;859	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	G	867;859;625;225;625;2;2;2;2	ENSP00000346964:R867G;ENSP00000313084:R859G;ENSP00000337607:R625G;ENSP00000380385:R225G;ENSP00000380393:R2G;ENSP00000425579:R2G;ENSP00000427228:R2G;ENSP00000423228:R2G	ENSP00000313084:R859G	R	+	1	2	EGFLAM	38487205	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.347000	0.59373	0.413000	0.25759	0.528000	0.53228	AGG		0.473	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		3	100	0	0	0	0.115264	0	3	100				
USP46	64854	broad.mit.edu	37	4	53492228	53492228	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr4:53492228T>C	ENST00000441222.3	-	4	702	c.518A>G	c.(517-519)cAg>cGg	p.Q173R	USP46_ENST00000451218.2_Missense_Mutation_p.Q146R|USP46_ENST00000508499.1_Missense_Mutation_p.Q166R	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46	173	USP.				adult feeding behavior (GO:0008343)|behavioral fear response (GO:0001662)|behavioral response to ethanol (GO:0048149)|protein deubiquitination (GO:0016579)|regulation of synaptic transmission, GABAergic (GO:0032228)|righting reflex (GO:0060013)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			AAGCGTTCCCTGAAAAATCTC	0.383																																						ENST00000441222.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12						c.(517-519)cAg>cGg		ubiquitin specific peptidase 46							123.0	117.0	119.0					4																	53492228		1869	4137	6006	SO:0001583	missense	64854				behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr4:53492228T>C	AK022614	CCDS47053.1, CCDS47054.1	4q12	2008-02-05	2005-08-08		ENSG00000109189	ENSG00000109189		"""Ubiquitin-specific peptidases"""	20075	protein-coding gene	gene with protein product		612849	"""ubiquitin specific protease 46"""			12838346	Standard	NM_022832		Approved	FLJ12552	uc003gzn.3	P62068	OTTHUMG00000160640	ENST00000441222.3:c.518A>G	4.37:g.53492228T>C	ENSP00000407818:p.Gln173Arg					USP46_ENST00000451218.2_Missense_Mutation_p.Q146R|USP46_ENST00000508499.1_Missense_Mutation_p.Q166R	p.Q173R	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.0295)		4	702	-			173					B7Z3Y7|B7Z675|B7Z7S3|G8ACC7|Q80V95|Q9H7U4|Q9H9T8	Missense_Mutation	SNP	ENST00000441222.3	37	c.518A>G	CCDS47053.1	.	.	.	.	.	.	.	.	.	.	T	15.86	2.958840	0.53400	.	.	ENSG00000109189	ENST00000441222;ENST00000451218;ENST00000508499	T;T;T	0.31247	1.5;1.5;1.5	5.08	5.08	0.68730	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.64402	D	0.000018	T	0.33818	0.0876	M	0.67953	2.075	0.80722	D	1	B;B;B;B	0.18610	0.02;0.011;0.029;0.01	B;B;B;B	0.29077	0.059;0.059;0.098;0.025	T	0.13872	-1.0493	10	0.12430	T	0.62	-17.1457	14.345	0.66654	0.0:0.0:0.0:1.0	.	57;161;173;166	P62068-2;P62068-4;P62068;P62068-3	.;.;UBP46_HUMAN;.	R	173;146;166	ENSP00000407818:Q173R;ENSP00000390102:Q146R;ENSP00000423244:Q166R	ENSP00000407818:Q173R	Q	-	2	0	USP46	53186985	1.000000	0.71417	1.000000	0.80357	0.639000	0.38242	6.263000	0.72521	2.046000	0.60703	0.528000	0.53228	CAG		0.383	USP46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361516.2	NM_022832		3	56	0	0	0	0.150653	0	3	56				
PIK3CB	5291	broad.mit.edu	37	3	138374244	138374244	+	Missense_Mutation	SNP	T	T	A			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr3:138374244T>A	ENST00000477593.1	-	23	3273	c.3200A>T	c.(3199-3201)gAc>gTc	p.D1067V	PIK3CB_ENST00000289153.2_Missense_Mutation_p.D1067V|PIK3CB_ENST00000544716.1_Missense_Mutation_p.D518V			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	1067	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)	p.D1067V(1)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	AGATCTGTAGTCTTTCCGAAC	0.408																																						ENST00000477593.1																			1	Substitution - Missense(1)	p.D1067V(1)	skin(1)	NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(3199-3201)gAc>gTc		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta							139.0	129.0	132.0					3																	138374244		2203	4300	6503	SO:0001583	missense	5291				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:138374244T>A		CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"""phosphoinositide-3-kinase, catalytic, beta polypeptide"""	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.3200A>T	3.37:g.138374244T>A	ENSP00000418143:p.Asp1067Val					PIK3CB_ENST00000289153.2_Missense_Mutation_p.D1067V|PIK3CB_ENST00000544716.1_Missense_Mutation_p.D518V	p.D1067V			P42338	PK3CB_HUMAN			23	3273	-			1067			PI3K/PI4K.		D3DNF0|Q24JU2	Missense_Mutation	SNP	ENST00000477593.1	37	c.3200A>T	CCDS3104.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.64|19.64	3.866111|3.866111	0.71949|0.71949	.|.	.|.	ENSG00000051382|ENSG00000051382	ENST00000477593;ENST00000544716;ENST00000289153|ENST00000493568	T;T;T|.	0.71934|.	-0.61;-0.19;-0.61|.	5.55|5.55	5.55|5.55	0.83447|0.83447	Phosphatidylinositol 3-/4-kinase, catalytic (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75133|0.75133	0.3808|0.3808	M|M	0.75447|0.75447	2.3|2.3	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.77557|.	0.99;0.987;0.99|.	T|T	0.75645|0.75645	-0.3246|-0.3246	10|5	0.66056|.	D|.	0.02|.	-22.5439|-22.5439	15.8615|15.8615	0.79026|0.79026	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1067;654;518|.	P42338;B4DZI3;Q68DL0|.	PK3CB_HUMAN;.;.|.	V|S	1067;518;1067|699	ENSP00000418143:D1067V;ENSP00000438259:D518V;ENSP00000289153:D1067V|.	ENSP00000289153:D1067V|.	D|T	-|-	2|1	0|0	PIK3CB|PIK3CB	139856934|139856934	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.886000|0.886000	0.51366|0.51366	7.398000|7.398000	0.79919|0.79919	2.333000|2.333000	0.79357|0.79357	0.533000|0.533000	0.62120|0.62120	GAC|ACT		0.408	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1			5	65	0	0	0	0.184627	0	5	65				
KRTAP4-8	728224	broad.mit.edu	37	17	39254054	39254054	+	Missense_Mutation	SNP	A	A	T	rs76270529		TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr17:39254054A>T	ENST00000333822.4	-	1	339	c.283T>A	c.(283-285)Tgc>Agc	p.C95S		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	95	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.C95S(4)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						ctggagatgcagcagcTAGGG	0.677																																						ENST00000333822.4																			4	Substitution - Missense(4)	p.C95S(4)	endometrium(3)|kidney(1)	endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						c.(283-285)Tgc>Agc		keratin associated protein 4-8							7.0	11.0	10.0					17																	39254054		685	1582	2267	SO:0001583	missense	728224					keratin filament		g.chr17:39254054A>T	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"""Keratin associated proteins"""	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.283T>A	17.37:g.39254054A>T	ENSP00000328444:p.Cys95Ser						p.C95S	NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN			1	339	-			95			25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].		A8MSH3	Missense_Mutation	SNP	ENST00000333822.4	37	c.283T>A	CCDS45674.1	.	.	.	.	.	.	.	.	.	.	.	15.18	2.755714	0.49362	.	.	ENSG00000204880	ENST00000333822;ENST00000332991	T	0.02280	4.36	3.11	2.01	0.26516	.	0.000000	0.52532	U	0.000067	T	0.04497	0.0123	M	0.83223	2.63	0.25182	N	0.99019	B	0.21606	0.058	B	0.27887	0.084	T	0.21793	-1.0235	10	0.54805	T	0.06	.	6.3859	0.21559	0.8715:0.0:0.1285:0.0	.	95	Q9BYQ9	KRA48_HUMAN	S	95;80	ENSP00000328444:C95S	ENSP00000414561:C80S	C	-	1	0	KRTAP4-8	36507580	0.999000	0.42202	0.393000	0.26258	0.649000	0.38597	3.122000	0.50446	0.404000	0.25506	0.374000	0.22700	TGC		0.677	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960		7	42	0	0	0	0.278610	0	7	42				
OR2G6	391211	broad.mit.edu	37	1	248685767	248685767	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr1:248685767G>T	ENST00000343414.4	+	1	852	c.820G>T	c.(820-822)Gtt>Ttt	p.V274F		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	274						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGGAAAGTTTGTTTCTCTTTT	0.438																																						ENST00000343414.4																			0				NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(820-822)Gtt>Ttt		olfactory receptor, family 2, subfamily G, member 6							101.0	104.0	103.0					1																	248685767		2203	4300	6503	SO:0001583	missense	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685767G>T		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.820G>T	1.37:g.248685767G>T	ENSP00000341291:p.Val274Phe						p.V274F	NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	852	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	274					B2RP33	Missense_Mutation	SNP	ENST00000343414.4	37	c.820G>T	CCDS31119.1	.	.	.	.	.	.	.	.	.	.	N	13.71	2.319436	0.41096	.	.	ENSG00000188558	ENST00000343414	T	0.38722	1.12	3.83	3.83	0.44106	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39985	U	0.001218	T	0.44456	0.1294	N	0.20530	0.585	0.09310	N	1	D	0.76494	0.999	D	0.74348	0.983	T	0.21280	-1.0250	10	0.31617	T	0.26	.	10.8109	0.46547	0.0:0.1934:0.8066:0.0	.	274	Q5TZ20	OR2G6_HUMAN	F	274	ENSP00000341291:V274F	ENSP00000341291:V274F	V	+	1	0	OR2G6	246752390	0.021000	0.18746	0.998000	0.56505	0.949000	0.60115	0.915000	0.28638	1.964000	0.57103	0.400000	0.26472	GTT		0.438	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		9	73	1	0	0.000442599	0.335167	0.000525587	9	73				
ZFHX3	463	broad.mit.edu	37	16	72829670	72829670	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr16:72829670T>C	ENST00000268489.5	-	9	7583	c.6911A>G	c.(6910-6912)cAg>cGg	p.Q2304R	ZFHX3_ENST00000397992.5_Missense_Mutation_p.Q1390R	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2304					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCCCTCTCCCTGATTCTCATA	0.443																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(6910-6912)cAg>cGg		zinc finger homeobox 3							127.0	130.0	129.0					16																	72829670		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72829670T>C	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.6911A>G	16.37:g.72829670T>C	ENSP00000268489:p.Gln2304Arg					ZFHX3_ENST00000397992.5_Missense_Mutation_p.Q1390R	p.Q2304R	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			9	7583	-		Ovarian(137;0.13)	2304					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.6911A>G	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	T	16.87	3.241826	0.58995	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.76709	-1.04;-1.02	5.65	5.65	0.86999	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.000000	0.47852	D	0.000219	D	0.83128	0.5187	L	0.41492	1.28	0.80722	D	1	D	0.57899	0.981	D	0.67900	0.954	D	0.84602	0.0673	10	0.62326	D	0.03	.	15.8734	0.79141	0.0:0.0:0.0:1.0	.	2304	Q15911	ZFHX3_HUMAN	R	2304;1390	ENSP00000268489:Q2304R;ENSP00000438926:Q1390R	ENSP00000268489:Q2304R	Q	-	2	0	ZFHX3	71387171	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.147000	0.66899	0.459000	0.35465	CAG		0.443	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		3	129	0	0	0	0.115264	0	3	129				
FZD8	8325	broad.mit.edu	37	10	35930194	35930194	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr10:35930194T>C	ENST00000374694.1	-	1	168	c.164A>G	c.(163-165)aAt>aGt	p.N55S	MIR4683_ENST00000579659.1_RNA	NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled class receptor 8	55	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						GTTGAACTGATTGGGCATGTA	0.617																																						ENST00000374694.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						c.(163-165)aAt>aGt		frizzled family receptor 8							152.0	114.0	127.0					10																	35930194		2203	4300	6503	SO:0001583	missense	8325				axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr10:35930194T>C	AB043703	CCDS7192.1	10p11.2	2014-01-29	2014-01-29		ENSG00000177283	ENSG00000177283		"""GPCR / Class F : Frizzled receptors"""	4046	protein-coding gene	gene with protein product		606146	"""frizzled (Drosophila) homolog 8"", ""frizzled homolog 8 (Drosophila)"", ""frizzled 8, seven transmembrane spanning receptor"", ""frizzled family receptor 8"""			11295046	Standard	NM_031866		Approved		uc001iyz.1	Q9H461	OTTHUMG00000017956	ENST00000374694.1:c.164A>G	10.37:g.35930194T>C	ENSP00000363826:p.Asn55Ser						p.N55S	NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN			1	168	-			55			FZ.			Missense_Mutation	SNP	ENST00000374694.1	37	c.164A>G	CCDS7192.1	.	.	.	.	.	.	.	.	.	.	T	17.03	3.285227	0.59867	.	.	ENSG00000177283	ENST00000374694	T	0.61274	0.12	3.92	3.92	0.45320	Frizzled domain (5);	0.138862	0.45126	U	0.000393	T	0.79387	0.4437	M	0.91768	3.24	0.58432	D	0.999995	D	0.89917	1.0	D	0.77004	0.989	D	0.84070	0.0379	10	0.66056	D	0.02	.	13.0623	0.59014	0.0:0.0:0.0:1.0	.	55	Q9H461	FZD8_HUMAN	S	55	ENSP00000363826:N55S	ENSP00000363826:N55S	N	-	2	0	FZD8	35970200	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.810000	0.86072	1.560000	0.49568	0.379000	0.24179	AAT		0.617	FZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047575.2	NM_031866		3	33	0	0	0	0.115264	0	3	33				
MKI67	4288	broad.mit.edu	37	10	129905423	129905423	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr10:129905423T>C	ENST00000368654.3	-	13	5056	c.4681A>G	c.(4681-4683)Aaa>Gaa	p.K1561E	MKI67_ENST00000368653.3_Missense_Mutation_p.K1201E	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1561	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AGGTCCAGTTTCTGCACTGGA	0.493																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(4681-4683)Aaa>Gaa		marker of proliferation Ki-67							268.0	243.0	251.0					10																	129905423		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129905423T>C	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.4681A>G	10.37:g.129905423T>C	ENSP00000357643:p.Lys1561Glu					MKI67_ENST00000368653.3_Missense_Mutation_p.K1201E	p.K1561E	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	5056	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1561			16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.4681A>G	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	T	16.60	3.167279	0.57476	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02974	4.09;4.09	4.21	3.07	0.35406	.	0.501759	0.18604	N	0.136346	T	0.07548	0.0190	L	0.52905	1.665	0.09310	N	1	P;P;D	0.76494	0.94;0.811;0.999	P;B;D	0.69824	0.638;0.382;0.966	T	0.15607	-1.0431	10	0.09084	T	0.74	.	7.5474	0.27775	0.0:0.1033:0.0:0.8967	.	1560;1201;1561	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	E	1561;1201;1560	ENSP00000357643:K1561E;ENSP00000357642:K1201E	ENSP00000357642:K1201E	K	-	1	0	MKI67	129795413	0.012000	0.17670	0.006000	0.13384	0.041000	0.13682	1.872000	0.39549	0.606000	0.29965	0.379000	0.24179	AAA		0.493	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		17	192	0	0	0	0.520397	0	17	192				
MGAT5B	146664	broad.mit.edu	37	17	74878302	74878302	+	Missense_Mutation	SNP	G	G	A	rs377057899		TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr17:74878302G>A	ENST00000569840.2	+	3	825	c.251G>A	c.(250-252)cGc>cAc	p.R84H	MGAT5B_ENST00000565675.1_Missense_Mutation_p.R84H|MGAT5B_ENST00000301618.4_Missense_Mutation_p.R84H|MGAT5B_ENST00000374998.3_3'UTR|MGAT5B_ENST00000428789.2_Missense_Mutation_p.R95H	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	84					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATGGTGAAGCGCATGGACGCA	0.672																																						ENST00000569840.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(250-252)cGc>cAc		mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B							32.0	29.0	30.0					17																	74878302		2203	4299	6502	SO:0001583	missense	146664					Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr17:74878302G>A	AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	24140	protein-coding gene	gene with protein product		612441	"""mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"""			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.251G>A	17.37:g.74878302G>A	ENSP00000456037:p.Arg84His					MGAT5B_ENST00000301618.4_Missense_Mutation_p.R84H|MGAT5B_ENST00000565675.1_Missense_Mutation_p.R84H|MGAT5B_ENST00000428789.2_Missense_Mutation_p.R95H|MGAT5B_ENST00000374998.3_3'UTR	p.R84H	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN			3	825	+			84					Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Missense_Mutation	SNP	ENST00000569840.2	37	c.251G>A	CCDS59299.1	.	.	.	.	.	.	.	.	.	.	G	32	5.149341	0.94645	.	.	ENSG00000167889	ENST00000374998;ENST00000301618;ENST00000428789	T;T	0.58797	0.33;0.31	5.23	5.23	0.72850	.	0.000000	0.64402	D	0.000001	T	0.70570	0.3239	L	0.54323	1.7	0.52099	D	0.999945	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.69289	-0.5184	10	0.40728	T	0.16	-33.2215	14.2918	0.66284	0.0:0.0:1.0:0.0	.	95;84	Q3V5L5-2;Q3V5L5-5	.;.	H	84;84;95	ENSP00000301618:R84H;ENSP00000391227:R95H	ENSP00000301618:R84H	R	+	2	0	MGAT5B	72389897	1.000000	0.71417	0.953000	0.39169	0.944000	0.59088	7.814000	0.86154	2.428000	0.82296	0.561000	0.74099	CGC		0.672	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460624.2	NM_144677		6	21	0	0	0	0.278610	0	6	21				
RTKN	6242	broad.mit.edu	37	2	74656958	74656958	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr2:74656958A>G	ENST00000233330.6	-	6	919	c.602T>C	c.(601-603)gTt>gCt	p.V201A	RTKN_ENST00000484453.1_5'Flank|RTKN_ENST00000305557.5_Missense_Mutation_p.V238A|RTKN_ENST00000272430.5_Missense_Mutation_p.V251A	NM_001015056.1	NP_001015056.1			rhotekin											endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						GCCTTACCCAACAACTGGGGT	0.602																																						ENST00000305557.5																			0				endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						c.(712-714)gTt>gCt		rhotekin							39.0	38.0	38.0					2																	74656958		2203	4300	6503	SO:0001583	missense	6242				apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity	g.chr2:74656958A>G	AF049227	CCDS1941.1, CCDS33226.1, CCDS42699.1	2p13.1	2013-01-10			ENSG00000114993	ENSG00000114993		"""Pleckstrin homology (PH) domain containing"""	10466	protein-coding gene	gene with protein product		602288				9073523, 10940294	Standard	XM_005264478		Approved	B5	uc002sle.3	Q9BST9	OTTHUMG00000129955	ENST00000233330.6:c.602T>C	2.37:g.74656958A>G	ENSP00000233330:p.Val201Ala					RTKN_ENST00000233330.6_Missense_Mutation_p.V201A|RTKN_ENST00000272430.5_Missense_Mutation_p.V251A	p.V238A	NM_033046.2	NP_149035.1	Q9BST9	RTKN_HUMAN			7	1298	-			251						Missense_Mutation	SNP	ENST00000233330.6	37	c.713T>C	CCDS42699.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.085098	0.76642	.	.	ENSG00000114993	ENST00000305557;ENST00000272430;ENST00000233330	T;T;T	0.46819	0.86;0.86;0.86	4.77	3.62	0.41486	.	0.000000	0.85682	D	0.000000	T	0.51092	0.1654	L	0.44542	1.39	0.54753	D	0.999984	D;P	0.53619	0.961;0.952	P;P	0.57846	0.828;0.736	T	0.44081	-0.9351	10	0.39692	T	0.17	.	8.4788	0.33030	0.9076:0.0:0.0924:0.0	.	251;238	Q9BST9;Q9BST9-2	RTKN_HUMAN;.	A	238;251;201	ENSP00000305298:V238A;ENSP00000272430:V251A;ENSP00000233330:V201A	ENSP00000233330:V201A	V	-	2	0	RTKN	74510466	1.000000	0.71417	0.999000	0.59377	0.875000	0.50365	5.727000	0.68523	0.861000	0.35504	0.459000	0.35465	GTT		0.602	RTKN-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328236.3	NM_001015055		4	43	0	0	0	0.150653	0	4	43				
PLPPR1	54886	broad.mit.edu	37	9	104071536	104071536	+	Silent	SNP	C	C	T	rs199553611		TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr9:104071536C>T	ENST00000374874.3	+	5	868	c.429C>T	c.(427-429)aaC>aaT	p.N143N	LPPR1_ENST00000395056.2_Silent_p.N143N	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		143					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)										TTTTTGTAAACGCCGGACAAG	0.418																																						ENST00000374874.3																			0											c.(427-429)aaC>aaT				C	,	0,4406		0,0,2203	174.0	160.0	165.0		429,429	-7.2	0.9	9		165	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	LPPR1	NM_017753.2,NM_207299.1	,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	143/326,143/326	104071536	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0					integral to membrane	catalytic activity	g.chr9:104071536C>T																												ENST00000374874.3:c.429C>T	9.37:g.104071536C>T						LPPR1_ENST00000395056.2_Silent_p.N143N	p.N143N	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN			5	868	+			143					Q5VX23|Q9NXE2	Silent	SNP	ENST00000374874.3	37	c.429C>T	CCDS6751.1																																																																																				0.418	LPPR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053425.1			9	71	0	0	0	0.307466	0	9	71				
AP3B1	8546	broad.mit.edu	37	5	77452176	77452176	+	Missense_Mutation	SNP	T	T	A			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr5:77452176T>A	ENST00000255194.6	-	14	1554	c.1379A>T	c.(1378-1380)gAa>gTa	p.E460V	AP3B1_ENST00000519295.1_Missense_Mutation_p.E411V	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	460					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		AACCACACTTTCAGCAACAAC	0.299									Hermansky-Pudlak syndrome																													ENST00000255194.6																			0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39						c.(1378-1380)gAa>gTa		adaptor-related protein complex 3, beta 1 subunit							122.0	118.0	119.0					5																	77452176		2202	4299	6501	SO:0001583	missense	8546	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity	g.chr5:77452176T>A	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.1379A>T	5.37:g.77452176T>A	ENSP00000255194:p.Glu460Val					AP3B1_ENST00000519295.1_Missense_Mutation_p.E411V	p.E460V	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)	14	1554	-		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)	460					E5RJ68|O00580|Q7Z393|Q9HD66	Missense_Mutation	SNP	ENST00000255194.6	37	c.1379A>T	CCDS4041.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.529890	0.85706	.	.	ENSG00000132842	ENST00000255194;ENST00000519295;ENST00000535760;ENST00000535667	T;T	0.33654	1.4;1.4	5.38	5.38	0.77491	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72843	0.3511	H	0.96916	3.905	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.83216	-0.0071	10	0.87932	D	0	-23.231	15.6801	0.77360	0.0:0.0:0.0:1.0	.	460	O00203	AP3B1_HUMAN	V	460;411;460;364	ENSP00000255194:E460V;ENSP00000430597:E411V	ENSP00000255194:E460V	E	-	2	0	AP3B1	77487932	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.961000	0.87903	2.161000	0.67846	0.460000	0.39030	GAA		0.299	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2			7	76	0	0	0	0.278610	0	7	76				
WDR49	151790	broad.mit.edu	37	3	167245799	167245799	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr3:167245799A>G	ENST00000308378.3	-	11	1662	c.1357T>C	c.(1357-1359)Tgt>Cgt	p.C453R	WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Missense_Mutation_p.C278R|WDR49_ENST00000453925.2_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	453										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						GAGTTAAGACAGTACTCCTGA	0.353																																						ENST00000308378.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						c.(1357-1359)Tgt>Cgt		WD repeat domain 49							106.0	101.0	103.0					3																	167245799		2203	4300	6503	SO:0001583	missense	151790							g.chr3:167245799A>G	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.1357T>C	3.37:g.167245799A>G	ENSP00000311343:p.Cys453Arg					WDR49_ENST00000476376.1_Missense_Mutation_p.C278R|WDR49_ENST00000453925.2_Intron|WDR49_ENST00000479765.1_Intron	p.C453R	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN			11	1662	-			453					Q8N297	Missense_Mutation	SNP	ENST00000308378.3	37	c.1357T>C	CCDS3201.1	.	.	.	.	.	.	.	.	.	.	A	15.31	2.795381	0.50208	.	.	ENSG00000174776	ENST00000308378;ENST00000476376	T;T	0.58652	0.32;1.56	5.7	5.7	0.88788	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.366820	0.32769	N	0.005671	T	0.75117	0.3806	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	T	0.74444	-0.3663	10	0.25106	T	0.35	.	13.4893	0.61386	1.0:0.0:0.0:0.0	.	453	Q8IV35	WDR49_HUMAN	R	453;278	ENSP00000311343:C453R;ENSP00000420508:C278R	ENSP00000311343:C453R	C	-	1	0	WDR49	168728493	1.000000	0.71417	1.000000	0.80357	0.446000	0.32137	4.399000	0.59703	2.178000	0.69098	0.455000	0.32223	TGT		0.353	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824		7	37	0	0	0	0.278610	0	7	37				
LOC728323	728323	broad.mit.edu	37	2	243037115	243037115	+	RNA	SNP	A	A	G	rs573201469	byFrequency	TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr2:243037115A>G	ENST00000456398.1	+	0	247																											GGCTGGAAGAATTGTGAATCT	0.398													.|||	6	0.00119808	0.0023	0.0029	5008	,	,		17993	0.0		0.001	False		,,,				2504	0.0					ENST00000456398.1																			0																																																			0							g.chr2:243037115A>G																													2.37:g.243037115A>G														0	247	+									RNA	SNP	ENST00000456398.1	37																																																																																						0.398	AC093642.5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000322444.2			3	70	0	0	0	0.278610	0	3	70				
SAMD8	142891	broad.mit.edu	37	10	76868831	76868831	+	5'Flank	SNP	G	G	A			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr10:76868831G>A	ENST00000542569.1	+	0	0				DUSP13_ENST00000607131.1_5'UTR|DUSP13_ENST00000607009.1_5'UTR|DUSP13_ENST00000491677.2_5'UTR|SAMD8_ENST00000372687.4_5'Flank|SAMD8_ENST00000372690.3_5'Flank|DUSP13_ENST00000372700.3_Missense_Mutation_p.R29W|DUSP13_ENST00000372702.3_Missense_Mutation_p.R29W	NM_001174156.1|NM_144660.2	NP_001167627.1|NP_653261.1	Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8						ceramide biosynthetic process (GO:0046513)|regulation of ceramide biosynthetic process (GO:2000303)|sphingomyelin biosynthetic process (GO:0006686)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TTCCCTGCCCGCAGGAGCTCC	0.642																																						ENST00000372702.3																			0				large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8						c.(85-87)Cgg>Tgg		dual specificity phosphatase 13							79.0	66.0	70.0					10																	76868831		2203	4300	6503	SO:0001631	upstream_gene_variant	0					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:76868831G>A	AK057811	CCDS7347.1, CCDS53543.1	10q22.3	2013-01-10			ENSG00000156671	ENSG00000156671		"""Sterile alpha motif (SAM) domain containing"""	26320	protein-coding gene	gene with protein product		611575					Standard	NM_144660		Approved	FLJ25082	uc001jwx.2	Q96LT4	OTTHUMG00000018515		10.37:g.76868831G>A	Exception_encountered					DUSP13_ENST00000491677.2_5'UTR|DUSP13_ENST00000607131.1_5'UTR|DUSP13_ENST00000607009.1_5'UTR|DUSP13_ENST00000372700.3_Missense_Mutation_p.R29W	p.R29W			Q6B8I1	MDSP_HUMAN			1	148	-	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)		29					Q5JSC5|Q5JSC8|Q66K52	Missense_Mutation	SNP	ENST00000542569.1	37	c.85C>T	CCDS53543.1	.	.	.	.	.	.	.	.	.	.	G	5.928	0.355267	0.11239	.	.	ENSG00000079393	ENST00000372702;ENST00000372700	T;T	0.60797	0.16;3.37	5.52	-1.97	0.07503	.	.	.	.	.	T	0.38983	0.1061	N	0.02158	-0.66	0.44477	D	0.99741	D;D	0.65815	0.995;0.989	P;P	0.50708	0.648;0.54	T	0.55354	-0.8154	9	0.87932	D	0	.	15.5613	0.76249	0.0:0.0:0.5835:0.4165	.	29;29	Q9UII6-4;Q6B8I1	.;MDSP_HUMAN	W	29	ENSP00000361787:R29W;ENSP00000361785:R29W	ENSP00000361785:R29W	R	-	1	2	DUSP13	76538837	0.978000	0.34361	0.921000	0.36526	0.418000	0.31294	0.073000	0.14640	0.040000	0.15660	-0.272000	0.10252	CGG		0.642	SAMD8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_144660		3	39	0	0	0	0.150653	0	3	39				
DOCK10	55619	broad.mit.edu	37	2	225739448	225739448	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr2:225739448T>C	ENST00000258390.7	-	9	1019	c.952A>G	c.(952-954)Act>Gct	p.T318A	DOCK10_ENST00000409592.3_Missense_Mutation_p.T312A	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	318					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CATTCACAAGTTACAGAATTA	0.373																																						ENST00000409592.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87						c.(934-936)Act>Gct		dedicator of cytokinesis 10							143.0	136.0	138.0					2																	225739448		1865	4110	5975	SO:0001583	missense	55619						GTP binding	g.chr2:225739448T>C	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.952A>G	2.37:g.225739448T>C	ENSP00000258390:p.Thr318Ala					DOCK10_ENST00000258390.7_Missense_Mutation_p.T318A	p.T312A			Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	9	1047	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	318					B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.934A>G	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	T	6.428	0.447078	0.12223	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.03212	4.01;4.01	5.4	-0.3	0.12804	.	1.134760	0.06277	N	0.696709	T	0.03564	0.0102	L	0.40543	1.245	0.09310	N	0.999993	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.06405	0.0;0.002;0.0	T	0.49093	-0.8975	10	0.18710	T	0.47	.	5.1807	0.15158	0.0:0.2482:0.1404:0.6114	.	318;318;312	Q96BY6;Q96BY6-2;B3FL70	DOC10_HUMAN;.;.	A	312;318	ENSP00000386694:T312A;ENSP00000258390:T318A	ENSP00000258390:T318A	T	-	1	0	DOCK10	225447692	0.930000	0.31532	0.062000	0.19696	0.268000	0.26511	1.404000	0.34623	-0.244000	0.09639	-0.379000	0.06801	ACT		0.373	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			11	114	0	0	0	0.411799	0	11	114				
POTEC	388468	broad.mit.edu	37	18	14513675	14513675	+	Missense_Mutation	SNP	T	T	C	rs371810308	byFrequency	TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr18:14513675T>C	ENST00000358970.5	-	10	1518	c.1519A>G	c.(1519-1521)Aaa>Gaa	p.K507E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	507								p.K507E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAATTCATTTTCTTTTCAGCC	0.284													.|||	3	0.000599042	0.0	0.0	5008	,	,		16953	0.003		0.0	False		,,,				2504	0.0					ENST00000358970.5																			2	Substitution - Missense(2)	p.K507E(2)	urinary_tract(1)|prostate(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1519-1521)Aaa>Gaa		POTE ankyrin domain family, member C							164.0	115.0	130.0					18																	14513675		692	1590	2282	SO:0001583	missense	388468							g.chr18:14513675T>C	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1519A>G	18.37:g.14513675T>C	ENSP00000351856:p.Lys507Glu						p.K507E	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			10	1518	-			507						Missense_Mutation	SNP	ENST00000358970.5	37	c.1519A>G	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	t	0.001	-3.812128	0.00004	.	.	ENSG00000183206	ENST00000358970	T	0.32753	1.44	1.53	-3.07	0.05363	.	.	.	.	.	T	0.10165	0.0249	N	0.11427	0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31752	-0.9932	9	0.02654	T	1	.	3.0168	0.06063	0.0:0.3604:0.2511:0.3885	.	507	B2RU33	POTEC_HUMAN	E	507	ENSP00000351856:K507E	ENSP00000351856:K507E	K	-	1	0	POTEC	14503675	0.024000	0.19004	0.012000	0.15200	0.024000	0.10985	-0.021000	0.12504	-1.054000	0.03214	-3.018000	0.00074	AAA		0.284	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		3	95	0	0	0	0.115264	0	3	95				
PTPRN	5798	broad.mit.edu	37	2	220162111	220162111	+	Silent	SNP	C	C	G			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr2:220162111C>G	ENST00000295718.2	-	14	2172	c.1932G>C	c.(1930-1932)cgG>cgC	p.R644R	PTPRN_ENST00000409251.3_Silent_p.R615R|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000423636.2_Silent_p.R554R|PTPRN_ENST00000497977.1_5'Flank	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	644					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GACCCTCTGCCCGGTTGAACA	0.627																																						ENST00000295718.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(1930-1932)cgG>cgC		protein tyrosine phosphatase, receptor type, N							61.0	63.0	62.0					2																	220162111		2203	4300	6503	SO:0001819	synonymous_variant	5798				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr2:220162111C>G		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.1932G>C	2.37:g.220162111C>G						PTPRN_ENST00000423636.2_Silent_p.R554R|PTPRN_ENST00000409251.3_Silent_p.R615R	p.R644R	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)	14	2172	-		Renal(207;0.0474)	644					B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Silent	SNP	ENST00000295718.2	37	c.1932G>C	CCDS2440.1																																																																																				0.627	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			6	56	0	0	0	0.248553	0	6	56				
TMEM199	147007	broad.mit.edu	37	17	26684394	26684395	+	5'Flank	INS	-	-	G	rs202089331|rs17856014	byFrequency	TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr17:26684394_26684395insG	ENST00000292114.3	+	0	0				POLDIP2_ENST00000540200.1_Splice_Site|POLDIP2_ENST00000003607.4_5'UTR|CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000395404.3_5'Flank|TMEM199_ENST00000509083.1_5'Flank	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199							integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		AGAGCGGCTTTGCCACCGGGCC	0.762																																						ENST00000540200.1																			0											c.e1+1		polymerase (DNA-directed), delta interacting protein 2				2770,50		1380,10,20						0.4	0.1		dbSNP_130	4	6440,112		3203,34,39	no	frameshift	POLDIP2	NM_015584.3		4583,44,59	A1A1,A1R,RR		1.7094,1.773,1.7286				9210,162				SO:0001631	upstream_gene_variant	26073					mitochondrial nucleoid|nucleus		g.chr17:26684394_26684395insG	AY074907	CCDS11228.1	17q11.2	2007-12-17	2007-12-17	2007-12-17	ENSG00000244045	ENSG00000244045			18085	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 32"""	C17orf32			Standard	NM_152464		Approved	MGC45714	uc002hba.3	Q8N511	OTTHUMG00000132498		17.37:g.26684395_26684395dupG	Exception_encountered					POLDIP2_ENST00000003607.4_5'UTR		NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	1	78	-	all_lung(13;0.000354)|Lung NSC(42;0.00115)								Splice_Site	INS	ENST00000292114.3	37		CCDS11228.1																																																																																				0.762	TMEM199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255676.2	NM_152464		9	8						9	8	---	---	---	---
