#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_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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	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	t_alt_count	t_ref_count
TRIM51	84767	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	55653246	55653246	+	Silent	SNP	G	G	A			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr11:55653246G>A	ENST00000449290.2	+	2	434	c.342G>A	c.(340-342)ccG>ccA	p.P114P	TRIM51_ENST00000244891.3_5'Flank	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	114						intracellular (GO:0005622)	zinc ion binding (GO:0008270)										TCTGTTTGCCGTGCTCCAACT	0.507																																																0													20.0	19.0	19.0					11																	55653246		692	1591	2283	SO:0001819	synonymous_variant	84767			BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.342G>A	11.37:g.55653246G>A			A6NMG2	Silent	SNP	ENST00000449290.2	37																																																																																					0.507	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		10	11	10	11
LRRC32	2615	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	76371628	76371628	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr11:76371628G>T	ENST00000407242.2	-	3	1251	c.1009C>A	c.(1009-1011)Cac>Aac	p.H337N	LRRC32_ENST00000260061.5_Missense_Mutation_p.H337N|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000404995.1_Missense_Mutation_p.H337N|LRRC32_ENST00000464145.1_Intron	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	337					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GAGGTCAGGTGCTCAAGAAAG	0.587																																																0													32.0	34.0	33.0					11																	76371628		2200	4292	6492	SO:0001583	missense	2615			Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"""glycoprotein A repetitions predominant"""	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.1009C>A	11.37:g.76371628G>T	ENSP00000384126:p.His337Asn		Q86V06	Missense_Mutation	SNP	ENST00000407242.2	37	CCDS8245.1	.	.	.	.	.	.	.	.	.	.	G	5.211	0.224396	0.09863	.	.	ENSG00000137507	ENST00000260061;ENST00000407242;ENST00000404995	T;T;T	0.03717	3.83;3.83;3.83	4.26	3.32	0.38043	.	0.625238	0.17476	N	0.172900	T	0.01222	0.0040	N	0.00811	-1.165	0.09310	N	1	B	0.27791	0.189	B	0.28011	0.085	T	0.44847	-0.9301	10	0.29301	T	0.29	.	3.7584	0.08595	0.1345:0.0:0.4369:0.4286	.	337	Q14392	LRC32_HUMAN	N	337	ENSP00000260061:H337N;ENSP00000384126:H337N;ENSP00000385766:H337N	ENSP00000260061:H337N	H	-	1	0	LRRC32	76049276	0.006000	0.16342	0.069000	0.20011	0.973000	0.67179	1.807000	0.38902	0.974000	0.38366	0.484000	0.47621	CAC		0.587	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257926.2	NM_005512		9	17	9	17
LTA4H	4048	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	96410892	96410892	+	Splice_Site	SNP	C	C	G			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr12:96410892C>G	ENST00000228740.2	-	10	1018	c.877G>C	c.(877-879)Gtc>Ctc	p.V293L	LTA4H_ENST00000413268.2_Splice_Site_p.V269L|LTA4H_ENST00000552789.1_Splice_Site_p.V269L|LTA4H_ENST00000548375.1_5'Flank	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	293					arachidonic acid metabolic process (GO:0019369)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|peptide catabolic process (GO:0043171)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|leukotriene-A4 hydrolase activity (GO:0004463)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12					Captopril(DB01197)	TGTGCAATGACCTAAAGAAAA	0.299																																																0													117.0	120.0	119.0					12																	96410892		2203	4300	6503	SO:0001630	splice_region_variant	4048			BC032528	CCDS9059.1, CCDS58266.1, CCDS58267.1	12q22	2005-10-06				ENSG00000111144	3.3.2.6		6710	protein-coding gene	gene with protein product		151570				7628486	Standard	NM_000895		Approved		uc001ten.2	P09960	OTTHUMG00000170355	ENST00000228740.2:c.877-1G>C	12.37:g.96410892C>G			B4DNQ9|F8VV40|Q6IAT6|Q9UCT7	Splice_Site	SNP	ENST00000228740.2	37	CCDS9059.1	.	.	.	.	.	.	.	.	.	.	C	19.28	3.796702	0.70567	.	.	ENSG00000111144	ENST00000228740;ENST00000552789;ENST00000413268	T;T;T	0.04275	3.66;3.66;3.66	5.68	5.68	0.88126	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.19366	0.0465	L	0.58925	1.835	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.81914	0.991;0.991;0.995	T	0.00305	-1.1831	10	0.32370	T	0.25	-21.9295	19.776	0.96393	0.0:1.0:0.0:0.0	.	269;269;293	P09960-3;F8VV40;P09960	.;.;LKHA4_HUMAN	L	293;269;269	ENSP00000228740:V293L;ENSP00000449958:V269L;ENSP00000395051:V269L	ENSP00000228740:V293L	V	-	1	0	LTA4H	94935023	1.000000	0.71417	1.000000	0.80357	0.116000	0.19942	7.818000	0.86416	2.662000	0.90505	0.579000	0.79373	GTC		0.299	LTA4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408655.1	NM_000895	Missense_Mutation	29	23	29	23
TDG	6996	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	104374741	104374741	+	Splice_Site	SNP	G	G	T			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr12:104374741G>T	ENST00000392872.3	+	4	712		c.e4+1		TDG_ENST00000544861.1_Splice_Site|TDG_ENST00000542036.1_Splice_Site|TDG_ENST00000266775.9_Splice_Site	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase						base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|chromatin modification (GO:0016568)|depyrimidination (GO:0045008)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|embryo development (GO:0009790)|mismatch repair (GO:0006298)|negative regulation of chromatin binding (GO:0035562)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression, epigenetic (GO:0040029)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|double-stranded DNA binding (GO:0003690)|mismatched DNA binding (GO:0030983)|protein homodimerization activity (GO:0042803)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|RNA polymerase II transcription cofactor activity (GO:0001104)|structure-specific DNA binding (GO:0043566)			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		AACCATTTTTGTAAGTGGTTA	0.318								Base excision repair (BER), DNA glycosylases																																								0													96.0	93.0	94.0					12																	104374741		2203	4300	6503	SO:0001630	splice_region_variant	6996			U51166	CCDS9095.1	12q24.1	2014-05-14			ENSG00000139372	ENSG00000139372	3.2.2.29		11700	protein-coding gene	gene with protein product	"""G/T mismatch-specific thymine DNA glycosylase"""	601423				8662714, 9299239	Standard	NM_003211		Approved		uc001tkg.3	Q13569	OTTHUMG00000168418	ENST00000392872.3:c.478+1G>T	12.37:g.104374741G>T			Q8IUZ6|Q8IZM3	Splice_Site	SNP	ENST00000392872.3	37	CCDS9095.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.160726	0.78226	.	.	ENSG00000139372	ENST00000392872;ENST00000436021;ENST00000266775;ENST00000544861;ENST00000537100	.	.	.	4.57	4.57	0.56435	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.708	0.88314	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TDG	102898871	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.634000	0.98435	2.255000	0.74692	0.563000	0.77884	.		0.318	TDG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399673.2		Intron	33	14	33	14
PCNX	22990	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	14	71444691	71444691	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr14:71444691C>T	ENST00000304743.2	+	6	2083	c.1637C>T	c.(1636-1638)tCt>tTt	p.S546F	PCNX_ENST00000439984.3_Missense_Mutation_p.S546F|PCNX_ENST00000238570.5_Missense_Mutation_p.S546F	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	546						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CGACCTAAATCTTCTAGCGTA	0.468																																																0													108.0	110.0	109.0					14																	71444691		2203	4300	6503	SO:0001583	missense	22990			AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.1637C>T	14.37:g.71444691C>T	ENSP00000304192:p.Ser546Phe		B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.102310	0.37145	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	T;T;T	0.12569	3.21;3.19;2.67	5.86	5.86	0.93980	.	0.067563	0.64402	D	0.000009	T	0.27900	0.0687	N	0.24115	0.695	0.80722	D	1	D;D;D	0.76494	0.996;0.996;0.999	P;P;D	0.83275	0.853;0.853;0.996	T	0.02184	-1.1199	10	0.62326	D	0.03	.	20.1874	0.98223	0.0:1.0:0.0:0.0	.	546;546;546	B2RTR6;Q96RV3;Q96RV3-2	.;PCX1_HUMAN;.	F	546	ENSP00000304192:S546F;ENSP00000238570:S546F;ENSP00000396617:S546F	ENSP00000238570:S546F	S	+	2	0	PCNX	70514444	1.000000	0.71417	0.974000	0.42286	0.206000	0.24218	7.014000	0.76380	2.774000	0.95407	0.650000	0.86243	TCT		0.468	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		23	24	23	24
DYNC1H1	1778	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	14	102474561	102474561	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr14:102474561G>T	ENST00000360184.4	+	29	6028	c.5864G>T	c.(5863-5865)gGc>gTc	p.G1955V		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1955	AAA 1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GGTGCCTGGGGCTGCTTTGAC	0.587																																																0													72.0	68.0	70.0					14																	102474561		2203	4300	6503	SO:0001583	missense	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.5864G>T	14.37:g.102474561G>T	ENSP00000348965:p.Gly1955Val		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	31	5.096906	0.94197	.	.	ENSG00000197102	ENST00000360184	T	0.35236	1.32	5.32	5.32	0.75619	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.67543	0.2904	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73411	-0.3991	10	0.87932	D	0	.	19.3796	0.94527	0.0:0.0:1.0:0.0	.	1955	Q14204	DYHC1_HUMAN	V	1955	ENSP00000348965:G1955V	ENSP00000348965:G1955V	G	+	2	0	DYNC1H1	101544314	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.748000	0.98867	2.644000	0.89710	0.650000	0.86243	GGC		0.587	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		22	15	22	15
OTUD7A	161725	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	31776380	31776380	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr15:31776380C>T	ENST00000307050.4	-	11	1990	c.1898G>A	c.(1897-1899)cGc>cAc	p.R633H	OTUD7A_ENST00000382902.1_Missense_Mutation_p.R640H	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	633					protein K11-linked deubiquitination (GO:0035871)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GATGAACTTGCGCTCCCCCTG	0.672																																																0													17.0	18.0	18.0					15																	31776380		2194	4289	6483	SO:0001583	missense	161725			AJ430383	CCDS10026.1	15q13.1	2014-02-24	2014-02-24	2006-07-07	ENSG00000169918	ENSG00000169918		"""OTU domain containing"""	20718	protein-coding gene	gene with protein product		612024	"""chromosome 15 open reading frame 16"", ""OTU domain containing 7"", ""OTU domain containing 7A"""	C15orf16, OTUD7		23827681	Standard	NM_130901		Approved	CEZANNE2	uc001zfq.3	Q8TE49	OTTHUMG00000129275	ENST00000307050.4:c.1898G>A	15.37:g.31776380C>T	ENSP00000305926:p.Arg633His		Q8IWK5	Missense_Mutation	SNP	ENST00000307050.4	37	CCDS10026.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.433375	0.83776	.	.	ENSG00000169918	ENST00000307050;ENST00000382902	T;T	0.36520	1.25;1.25	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.54398	0.1856	L	0.46157	1.445	0.50467	D	0.999876	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.991	T	0.56926	-0.7898	10	0.54805	T	0.06	-21.4611	17.4668	0.87634	0.0:1.0:0.0:0.0	.	640;633	Q8TE49-2;Q8TE49	.;OTU7A_HUMAN	H	633;640	ENSP00000305926:R633H;ENSP00000372358:R640H	ENSP00000305926:R633H	R	-	2	0	OTUD7A	29563672	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.346000	0.65992	2.082000	0.62665	0.561000	0.74099	CGC		0.672	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251393.2	NM_130901		7	14	7	14
HIRIP3	8479	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	30006466	30006466	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr16:30006466T>C	ENST00000279392.3	-	3	1089	c.259A>G	c.(259-261)Agc>Ggc	p.S87G	HIRIP3_ENST00000564026.1_Missense_Mutation_p.S87G|INO80E_ENST00000567254.1_5'Flank|INO80E_ENST00000567705.1_5'Flank|INO80E_ENST00000304516.7_5'Flank|INO80E_ENST00000563197.1_5'Flank|HIRIP3_ENST00000566471.1_Intron	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	87					chromatin assembly or disassembly (GO:0006333)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						TCCGGGTCGCTACAAGGGGTG	0.552																																																0													173.0	159.0	163.0					16																	30006466		2197	4300	6497	SO:0001583	missense	8479			AJ223351	CCDS10664.1, CCDS58449.1	16p12.1	2008-02-05	2001-11-29		ENSG00000149929	ENSG00000149929			4917	protein-coding gene	gene with protein product		603365	"""HIRA-interacting protein 3"""			9710638	Standard	NM_003609		Approved		uc002dve.3	Q9BW71	OTTHUMG00000132118	ENST00000279392.3:c.259A>G	16.37:g.30006466T>C	ENSP00000279392:p.Ser87Gly		H3BSR3|O75707|O75708	Missense_Mutation	SNP	ENST00000279392.3	37	CCDS10664.1	.	.	.	.	.	.	.	.	.	.	T	13.40	2.226000	0.39300	.	.	ENSG00000149929	ENST00000279392;ENST00000352552	T	0.39406	1.08	5.14	2.88	0.33553	.	0.363457	0.24276	N	0.039956	T	0.29945	0.0749	L	0.50333	1.59	0.09310	N	1	B;B	0.14805	0.002;0.011	B;B	0.12837	0.002;0.008	T	0.25293	-1.0136	10	0.13108	T	0.6	-3.9248	5.3931	0.16255	0.0:0.0952:0.1938:0.7111	.	87;87	B2R6A9;Q9BW71	.;HIRP3_HUMAN	G	87	ENSP00000279392:S87G	ENSP00000279392:S87G	S	-	1	0	HIRIP3	29913967	0.022000	0.18835	0.607000	0.28956	0.304000	0.27724	0.484000	0.22308	0.390000	0.25115	0.482000	0.46254	AGC		0.552	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255160.2	NM_003609		11	129	11	129
SPNS3	201305	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	4356345	4356345	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr17:4356345G>A	ENST00000355530.2	+	8	1238	c.958G>A	c.(958-960)Gtc>Atc	p.V320I	SPNS3_ENST00000576069.1_3'UTR|SPNS3_ENST00000333476.2_Missense_Mutation_p.V193I	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	320					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.V320I(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						CATGACCGGCGTCATTGGGGT	0.572																																																1	Substitution - Missense(1)	skin(1)											93.0	87.0	89.0					17																	4356345		2203	4300	6503	SO:0001583	missense	201305				CCDS11045.1	17p13.2	2014-08-12			ENSG00000182557	ENSG00000182557			28433	protein-coding gene	gene with protein product		611701					Standard	NM_182538		Approved	MGC29671	uc002fxt.3	Q6ZMD2	OTTHUMG00000177737	ENST00000355530.2:c.958G>A	17.37:g.4356345G>A	ENSP00000347721:p.Val320Ile		Q8IZ31	Missense_Mutation	SNP	ENST00000355530.2	37	CCDS11045.1	.	.	.	.	.	.	.	.	.	.	G	0.038	-1.295849	0.01375	.	.	ENSG00000182557	ENST00000355530;ENST00000333476	T;T	0.57595	0.39;0.39	4.67	2.42	0.29668	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.261743	0.37012	N	0.002293	T	0.15998	0.0385	N	0.01197	-0.965	0.23056	N	0.99836	B;B	0.09022	0.002;0.001	B;B	0.11329	0.006;0.006	T	0.31888	-0.9927	10	0.02654	T	1	-6.7771	3.9682	0.09441	0.6205:0.1826:0.1968:0.0	.	193;320	Q6ZMD2-2;Q6ZMD2	.;SPNS3_HUMAN	I	320;193	ENSP00000347721:V320I;ENSP00000333207:V193I	ENSP00000333207:V193I	V	+	1	0	SPNS3	4303094	0.027000	0.19231	0.950000	0.38849	0.421000	0.31385	-0.001000	0.12947	0.267000	0.21916	-0.430000	0.05897	GTC		0.572	SPNS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438793.1	NM_182538		38	20	38	20
TP53	7157	hgsc.bcm.edu;broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576		TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			C|||	1	0.000199681	0.0	0.0	5008	,	,		18620	0.0		0.001	False		,,,				2504	0.0				Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(1)	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576						67.0	58.0	61.0					17																	7577120		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		5	3	5	3
LRRC59	55379	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	48465454	48465454	+	Missense_Mutation	SNP	G	G	A	rs140038553	byFrequency	TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr17:48465454G>A	ENST00000225972.7	-	5	704	c.469C>T	c.(469-471)Cgg>Tgg	p.R157W	Y_RNA_ENST00000384097.1_RNA	NM_018509.3	NP_060979.2	Q96AG4	LRC59_HUMAN	leucine rich repeat containing 59	157						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			TGCCTCTCCCGCTCCTGATCT	0.527																																																0								G	TRP/ARG	0,4406		0,0,2203	155.0	139.0	145.0		469	5.1	1.0	17	dbSNP_134	145	4,8596	3.0+/-9.4	0,4,4296	yes	missense	LRRC59	NM_018509.3	101	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	probably-damaging	157/308	48465454	4,13002	2203	4300	6503	SO:0001583	missense	55379			AK025328	CCDS11566.1	17q21.33	2014-02-12	2006-01-12		ENSG00000108829	ENSG00000108829			28817	protein-coding gene	gene with protein product		614854				12477932	Standard	NM_018509		Approved	PRO1855, FLJ21675	uc002iqt.3	Q96AG4	OTTHUMG00000162079	ENST00000225972.7:c.469C>T	17.37:g.48465454G>A	ENSP00000225972:p.Arg157Trp		B2RE83|D3DTX8|Q9P189	Missense_Mutation	SNP	ENST00000225972.7	37	CCDS11566.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.155213	0.78114	0.0	4.65E-4	ENSG00000108829	ENST00000225972	T	0.26518	1.73	6.08	5.1	0.69264	.	0.174966	0.51477	D	0.000099	T	0.31327	0.0793	L	0.45137	1.4	0.80722	D	1	D	0.69078	0.997	P	0.47470	0.548	T	0.09885	-1.0654	10	0.87932	D	0	.	16.7724	0.85542	0.0:0.0:0.8698:0.1302	.	157	Q96AG4	LRC59_HUMAN	W	157	ENSP00000225972:R157W	ENSP00000225972:R157W	R	-	1	2	LRRC59	45820453	0.997000	0.39634	1.000000	0.80357	0.985000	0.73830	3.883000	0.56168	1.567000	0.49668	-0.181000	0.13052	CGG		0.527	LRRC59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367117.2	NM_018509		97	50	97	50
ST8SIA5	29906	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	18	44260408	44260408	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr18:44260408G>A	ENST00000315087.7	-	7	1388	c.728C>T	c.(727-729)tCg>tTg	p.S243L	ST8SIA5_ENST00000536490.1_Missense_Mutation_p.S212L|ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.S279L	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	243					carbohydrate metabolic process (GO:0005975)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)			kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						CAGCAGCACCGACGCGTTCTC	0.607																																																0													71.0	41.0	51.0					18																	44260408		2203	4300	6503	SO:0001583	missense	29906			U91641	CCDS11930.1	18q12.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000101638	ENSG00000101638		"""Sialyltransferases"""	17827	protein-coding gene	gene with protein product	"""ST8Sia V"""	607162	"""sialyltransferase 8E (alpha-2, 8-polysialytransferase)"""	SIAT8E		9199191	Standard	XM_005258250		Approved		uc002lcj.1	O15466	OTTHUMG00000132643	ENST00000315087.7:c.728C>T	18.37:g.44260408G>A	ENSP00000321343:p.Ser243Leu		B7Z1K9|Q6IAW7	Missense_Mutation	SNP	ENST00000315087.7	37	CCDS11930.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.162999	0.57476	.	.	ENSG00000101638	ENST00000315087;ENST00000538168;ENST00000536490	T;T;T	0.23754	1.89;1.89;1.89	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.31295	0.0792	N	0.11284	0.12	0.80722	D	1	D;B;D	0.89917	1.0;0.229;1.0	D;B;D	0.97110	0.996;0.059;1.0	T	0.15723	-1.0427	10	0.11485	T	0.65	-2.8521	19.0155	0.92892	0.0:0.0:1.0:0.0	.	212;279;243	F5H8D1;B7Z1K9;O15466	.;.;SIA8E_HUMAN	L	243;279;212	ENSP00000321343:S243L;ENSP00000445492:S279L;ENSP00000443683:S212L	ENSP00000321343:S243L	S	-	2	0	ST8SIA5	42514406	1.000000	0.71417	0.951000	0.38953	0.991000	0.79684	8.027000	0.88791	2.482000	0.83794	0.561000	0.74099	TCG		0.607	ST8SIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255892.1	NM_013305		4	5	4	5
ZNF536	9745	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	31040264	31040264	+	Silent	SNP	G	G	A			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr19:31040264G>A	ENST00000355537.3	+	4	3885	c.3738G>A	c.(3736-3738)gcG>gcA	p.A1246A		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1246					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.A1246A(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ACCCCTTGGCGGGCCTGCCAA	0.632																																																1	Substitution - coding silent(1)	endometrium(1)											18.0	20.0	19.0					19																	31040264		2199	4291	6490	SO:0001819	synonymous_variant	9745				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.3738G>A	19.37:g.31040264G>A			A2RU18	Silent	SNP	ENST00000355537.3	37	CCDS32984.1																																																																																				0.632	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		12	15	12	15
RERE	473	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	8415150	8415150	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr1:8415150T>G	ENST00000337907.3	-	24	5332	c.4698A>C	c.(4696-4698)ttA>ttC	p.L1566F	RERE_ENST00000377464.1_Missense_Mutation_p.L1298F|RERE_ENST00000400907.2_Missense_Mutation_p.L584F|RERE_ENST00000400908.2_Missense_Mutation_p.L1566F|RERE_ENST00000476556.1_Missense_Mutation_p.L1012F	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1566					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		AAATAACTTATAACTGCTTGT	0.438																																																0													67.0	68.0	68.0					1																	8415150		2203	4300	6503	SO:0001583	missense	473			AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.4698A>C	1.37:g.8415150T>G	ENSP00000338629:p.Leu1566Phe		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	37	CCDS95.1	.	.	.	.	.	.	.	.	.	.	T	17.72	3.459916	0.63401	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000400907;ENST00000476556;ENST00000400908	T;T;T	0.71817	-0.6;-0.56;-0.6	5.67	4.55	0.56014	.	.	.	.	.	T	0.80177	0.4575	M	0.68952	2.095	0.54753	D	0.999987	D	0.76494	0.999	D	0.87578	0.998	T	0.80153	-0.1501	9	0.87932	D	0	.	7.9218	0.29850	0.0:0.157:0.0:0.843	.	1566	Q9P2R6	RERE_HUMAN	F	1566;1298;584;1012;1566	ENSP00000338629:L1566F;ENSP00000366684:L1298F;ENSP00000383700:L1566F	ENSP00000338629:L1566F	L	-	3	2	RERE	8337737	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.241000	0.51376	1.002000	0.39104	0.459000	0.35465	TTA		0.438	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			18	16	18	16
EPHA8	2046	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	22924293	22924293	+	Silent	SNP	G	G	A	rs201370742		TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr1:22924293G>A	ENST00000166244.3	+	11	2127	c.2055G>A	c.(2053-2055)gcG>gcA	p.A685A		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	685	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TGAGCGAGGCGTCCATCATGG	0.662																																																0													90.0	92.0	91.0					1																	22924293		2203	4300	6503	SO:0001819	synonymous_variant	2046			BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.2055G>A	1.37:g.22924293G>A			Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Silent	SNP	ENST00000166244.3	37	CCDS225.1																																																																																				0.662	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		77	60	77	60
NCMAP	400746	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	24932146	24932146	+	Missense_Mutation	SNP	G	G	A	rs113438005		TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr1:24932146G>A	ENST00000374392.2	+	4	283	c.217G>A	c.(217-219)Gcc>Acc	p.A73T	NCMAP_ENST00000486262.1_3'UTR	NM_001010980.4	NP_001010980.1	Q5T1S8	NCMAP_HUMAN	noncompact myelin associated protein	73					peripheral nervous system myelin formation (GO:0032290)|positive regulation of myelination (GO:0031643)	integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|Schmidt-Lanterman incisure (GO:0043220)	structural constituent of myelin sheath (GO:0019911)										CAAGCCAACCGCCCCTTCTGC	0.592																																																0													78.0	66.0	70.0					1																	24932146		2203	4300	6503	SO:0001583	missense	400746			AK124519	CCDS30632.1	1p36.11	2012-07-31	2012-07-31	2012-07-31	ENSG00000184454	ENSG00000184454			29332	protein-coding gene	gene with protein product	"""myelin protein of 11 kDa"""		"""chromosome 1 open reading frame 130"""	C1orf130		18650334	Standard	NM_001010980		Approved	FLJ42528, MP11	uc001bjk.2	Q5T1S8	OTTHUMG00000003317	ENST00000374392.2:c.217G>A	1.37:g.24932146G>A	ENSP00000363513:p.Ala73Thr		A0PK04|B2RV34	Missense_Mutation	SNP	ENST00000374392.2	37	CCDS30632.1	.	.	.	.	.	.	.	.	.	.	G	0.372	-0.933352	0.02359	.	.	ENSG00000184454	ENST00000374392	.	.	.	5.72	-4.44	0.03557	.	0.701336	0.14273	N	0.330007	T	0.14056	0.0340	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.13926	-1.0491	9	0.24483	T	0.36	-5.1533	2.9136	0.05745	0.4871:0.076:0.2631:0.1738	.	73	Q5T1S8	CA130_HUMAN	T	73	.	ENSP00000363513:A73T	A	+	1	0	C1orf130	24804733	0.000000	0.05858	0.001000	0.08648	0.402000	0.30811	-0.325000	0.07976	-0.931000	0.03746	-1.170000	0.01741	GCC		0.592	NCMAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009288.2	NM_001010980		14	45	14	45
RUNX3	864	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	25228881	25228881	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr1:25228881G>A	ENST00000308873.6	-	5	988	c.980C>T	c.(979-981)cCg>cTg	p.P327L	RUNX3_ENST00000399916.1_Missense_Mutation_p.P341L|RUNX3_ENST00000338888.3_Missense_Mutation_p.P341L|RUNX3_ENST00000496967.1_5'Flank|RUNX3_ENST00000540420.1_Missense_Mutation_p.P234L	NM_004350.2	NP_004341.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	327	Pro/Ser/Thr-rich.				axon guidance (GO:0007411)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|hair follicle morphogenesis (GO:0031069)|interferon-gamma production (GO:0032609)|negative regulation of cell cycle (GO:0045786)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peripheral nervous system neuron development (GO:0048935)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		GTAGGGGGACGGGTTGGCCTG	0.692																																																0													23.0	29.0	27.0					1																	25228881		2203	4299	6502	SO:0001583	missense	864			BC013362	CCDS257.1, CCDS30633.1	1p36	2008-02-05			ENSG00000020633	ENSG00000020633			10473	protein-coding gene	gene with protein product		600210		CBFA3		7835892	Standard	NM_001031680		Approved	AML2, PEBP2A3	uc001bjq.3	Q13761	OTTHUMG00000003316	ENST00000308873.6:c.980C>T	1.37:g.25228881G>A	ENSP00000308051:p.Pro327Leu		B1AJV5|Q12969|Q13760	Missense_Mutation	SNP	ENST00000308873.6	37	CCDS257.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.162515	0.78226	.	.	ENSG00000020633	ENST00000399916;ENST00000308873;ENST00000338888;ENST00000540420;ENST00000428150	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	3.93	3.93	0.45458	Runx inhibition (1);	0.119515	0.64402	D	0.000016	T	0.47154	0.1430	L	0.40543	1.245	0.52501	D	0.999956	D;D;D	0.89917	0.975;1.0;1.0	P;D;D	0.91635	0.61;0.999;0.998	T	0.51148	-0.8742	10	0.66056	D	0.02	-24.8831	16.5071	0.84274	0.0:0.0:1.0:0.0	.	274;341;327	E9PH34;B1AJV5;Q13761	.;.;RUNX3_HUMAN	L	341;327;341;234;274	ENSP00000382800:P341L;ENSP00000308051:P327L;ENSP00000343477:P341L;ENSP00000444872:P234L	ENSP00000308051:P327L	P	-	2	0	RUNX3	25101468	1.000000	0.71417	0.982000	0.44146	0.905000	0.53344	7.266000	0.78452	2.204000	0.70986	0.462000	0.41574	CCG		0.692	RUNX3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009284.1	NM_004350		11	38	11	38
IPO9	55705	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	201824023	201824023	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr1:201824023T>C	ENST00000361565.4	+	8	952	c.883T>C	c.(883-885)Tgg>Cgg	p.W295R		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	295					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						GCCTATTGTTTGGAACACCCT	0.448																																																0													149.0	144.0	146.0					1																	201824023		2203	4300	6503	SO:0001583	missense	55705			AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"""Importins"""	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.883T>C	1.37:g.201824023T>C	ENSP00000354742:p.Trp295Arg		B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	Missense_Mutation	SNP	ENST00000361565.4	37	CCDS1415.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.335486	0.81801	.	.	ENSG00000198700	ENST00000361565	T	0.67523	-0.27	5.04	5.04	0.67666	Armadillo-like helical (1);Armadillo-type fold (1);	0.104953	0.64402	D	0.000001	T	0.80226	0.4584	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81134	-0.1071	10	0.48119	T	0.1	-7.6342	12.9996	0.58667	0.0:0.0:0.0:1.0	.	295	Q96P70	IPO9_HUMAN	R	295	ENSP00000354742:W295R	ENSP00000354742:W295R	W	+	1	0	IPO9	200090646	1.000000	0.71417	0.943000	0.38184	0.990000	0.78478	7.563000	0.82314	2.015000	0.59207	0.460000	0.39030	TGG		0.448	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087088.1	NM_018085		13	79	13	79
BPIFB4	149954	hgsc.bcm.edu;ucsc.edu	37	20	31695618	31695618	+	Missense_Mutation	SNP	G	G	A	rs138732736		TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr20:31695618G>A	ENST00000375483.3	+	15	1813	c.1813G>A	c.(1813-1815)Gtg>Atg	p.V605M	BPIFB4_ENST00000494121.1_3'UTR	NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	605						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										AGACATTGACGTGTTGGAGGT	0.493													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21818	0.0		0.0	False		,,,				2504	0.0															0								G	MET/VAL	3,4403	6.2+/-15.9	0,3,2200	163.0	121.0	135.0		1813	2.7	1.0	20	dbSNP_134	135	0,8600		0,0,4300	yes	missense	BPIFB4	NM_182519.2	21	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	probably-damaging	605/615	31695618	3,13003	2203	4300	6503	SO:0001583	missense	149954			AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"""BPI fold containing"""	16179	protein-coding gene	gene with protein product		615718	"""chromosome 20 open reading frame 186"""	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.1813G>A	20.37:g.31695618G>A	ENSP00000364632:p.Val605Met		Q5TDX6	Missense_Mutation	SNP	ENST00000375483.3	37	CCDS13213.2	.	.	.	.	.	.	.	.	.	.	G	18.45	3.626815	0.66901	6.81E-4	0.0	ENSG00000186191	ENST00000375483	T	0.09817	2.94	6.01	2.68	0.31781	.	0.180678	0.38492	N	0.001669	T	0.10380	0.0254	L	0.34521	1.04	0.29757	N	0.835825	D	0.57899	0.981	P	0.49799	0.622	T	0.08638	-1.0712	10	0.72032	D	0.01	-22.774	3.6335	0.08141	0.0955:0.1613:0.5765:0.1667	.	605	P59827	BPIB4_HUMAN	M	605	ENSP00000364632:V605M	ENSP00000364632:V605M	V	+	1	0	BPIFB4	31159279	0.928000	0.31464	0.970000	0.41538	0.981000	0.71138	1.323000	0.33701	0.768000	0.33290	0.655000	0.94253	GTG		0.493	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	NM_182519		7	11	7	11
DYSF	8291	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	71887771	71887771	+	Missense_Mutation	SNP	G	G	A	rs147056383	byFrequency	TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr2:71887771G>A	ENST00000258104.3	+	44	5153	c.4876G>A	c.(4876-4878)Gta>Ata	p.V1626I	DYSF_ENST00000410041.1_Missense_Mutation_p.V1644I|DYSF_ENST00000409651.1_Missense_Mutation_p.V1658I|DYSF_ENST00000413539.2_Missense_Mutation_p.V1657I|DYSF_ENST00000410020.3_Missense_Mutation_p.V1665I|DYSF_ENST00000409366.1_Missense_Mutation_p.V1648I|DYSF_ENST00000409582.3_Missense_Mutation_p.V1664I|DYSF_ENST00000409744.1_Missense_Mutation_p.V1634I|DYSF_ENST00000394120.2_Missense_Mutation_p.V1627I|DYSF_ENST00000429174.2_Missense_Mutation_p.V1647I|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409762.1_Missense_Mutation_p.V1643I	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1626	C2 6. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GCTGGAGCCCGTATTTGGAAA	0.507													G|||	9	0.00179712	0.0	0.0	5008	,	,		18916	0.0089		0.0	False		,,,				2504	0.0															0			GRCh37	CD053554	DYSF	D	rs147056383						122.0	109.0	113.0					2																	71887771		2203	4300	6503	SO:0001583	missense	8291			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.4876G>A	2.37:g.71887771G>A	ENSP00000258104:p.Val1626Ile		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	CCDS1918.1	8	0.003663003663003663	0	0.0	0	0.0	8	0.013986013986013986	0	0.0	G	13.67	2.306250	0.40795	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	T;T;T;T;T;T;T;T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59;-0.59;-0.59;-0.59;-0.59;-0.59;-0.59;-0.59	5.78	5.78	0.91487	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.225924	0.45126	D	0.000389	T	0.48132	0.1483	L	0.28014	0.82	0.36914	D	0.89103	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.27264	0.027;0.044;0.044;0.173;0.105;0.022;0.091;0.022;0.018;0.044;0.002;0.091;0.059;0.105;0.128	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.28385	0.023;0.02;0.033;0.053;0.036;0.008;0.022;0.012;0.022;0.02;0.022;0.022;0.036;0.053;0.089	T	0.54721	-0.8251	10	0.14656	T	0.56	-6.878	12.5135	0.56019	0.0:0.0:0.8334:0.1666	.	390;1658;1665;1648;1613;1644;1634;1643;1633;1657;1664;1647;1612;1627;1626	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	I	1657;1643;1664;1647;1626;1658;1627;1634;1648;1665;1644	ENSP00000407046:V1657I;ENSP00000387137:V1643I;ENSP00000386547:V1664I;ENSP00000398305:V1647I;ENSP00000258104:V1626I;ENSP00000386683:V1658I;ENSP00000377678:V1627I;ENSP00000386285:V1634I;ENSP00000386512:V1648I;ENSP00000386881:V1665I;ENSP00000386617:V1644I	ENSP00000258104:V1626I	V	+	1	0	DYSF	71741279	1.000000	0.71417	0.999000	0.59377	0.918000	0.54935	5.725000	0.68507	2.754000	0.94517	0.549000	0.68633	GTA		0.507	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		5	32	5	32
COL4A4	1286	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	227876966	227876966	+	Missense_Mutation	SNP	C	C	T	rs368105222	byFrequency	TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr2:227876966C>T	ENST00000396625.3	-	45	4471	c.4264G>A	c.(4264-4266)Gtc>Atc	p.V1422I	COL4A4_ENST00000329662.7_Missense_Mutation_p.V1419I	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1422	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GACCCAGGGACGCCATCCACA	0.567													C|||	4	0.000798722	0.0	0.0	5008	,	,		15827	0.0		0.0	False		,,,				2504	0.0041															0								C	ILE/VAL	1,3933		0,1,1966	52.0	59.0	57.0		4264	-11.4	0.0	2		57	0,8300		0,0,4150	no	missense	COL4A4	NM_000092.4	29	0,1,6116	TT,TC,CC		0.0,0.0254,0.0082	benign	1422/1691	227876966	1,12233	1967	4150	6117	SO:0001583	missense	1286				CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.4264G>A	2.37:g.227876966C>T	ENSP00000379866:p.Val1422Ile		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	C	0.330	-0.956427	0.02267	2.54E-4	0.0	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.93604	-3.25;-3.25	5.71	-11.4	0.00090	.	.	.	.	.	T	0.79947	0.4534	N	0.12422	0.21	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.64571	-0.6376	9	0.16420	T	0.52	.	7.3874	0.26891	0.1128:0.6038:0.1721:0.1112	.	1422	P53420	CO4A4_HUMAN	I	1422;1419	ENSP00000379866:V1422I;ENSP00000328553:V1419I	ENSP00000328553:V1419I	V	-	1	0	COL4A4	227585210	0.000000	0.05858	0.003000	0.11579	0.039000	0.13416	-4.720000	0.00194	-2.268000	0.00685	-1.327000	0.01280	GTC		0.567	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		16	34	16	34
SAG	6295	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	234235841	234235841	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr2:234235841G>C	ENST00000409110.1	+	7	740	c.510G>C	c.(508-510)aaG>aaC	p.K170N	SAG_ENST00000449594.2_Missense_Mutation_p.K36N	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	170					cell surface receptor signaling pathway (GO:0007166)|negative regulation of catalytic activity (GO:0043086)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cytosol (GO:0005829)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		AAATCCCCAAGAAGTAAGAGT	0.552																																																0													122.0	123.0	123.0					2																	234235841		2054	4183	6237	SO:0001583	missense	6295				CCDS46545.1	2q37.1	2013-02-14			ENSG00000130561	ENSG00000130561			10521	protein-coding gene	gene with protein product	"""arrestin 1"""	181031				2249983	Standard	NM_000541		Approved	ARRESTIN, RP47	uc002vuh.2	P10523	OTTHUMG00000153213	ENST00000409110.1:c.510G>C	2.37:g.234235841G>C	ENSP00000386444:p.Lys170Asn		A0FDN6|Q53SV3|Q99858	Missense_Mutation	SNP	ENST00000409110.1	37	CCDS46545.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.625951	0.46840	.	.	ENSG00000130561	ENST00000252857;ENST00000409110;ENST00000449594	T;T	0.23950	1.88;1.88	3.96	2.66	0.31614	Arrestin, N-terminal (1);Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.047601	0.85682	D	0.000000	T	0.45357	0.1338	M	0.89715	3.055	0.46521	D	0.999086	D;D	0.59767	0.971;0.986	P;P	0.55260	0.461;0.772	T	0.48281	-0.9049	9	.	.	.	-17.2373	6.9258	0.24414	0.2649:0.0:0.7351:0.0	.	36;170	B7Z7L5;P10523	.;ARRS_HUMAN	N	170;170;36	ENSP00000386444:K170N;ENSP00000392889:K36N	.	K	+	3	2	SAG	233900580	0.999000	0.42202	1.000000	0.80357	0.369000	0.29798	0.635000	0.24629	0.880000	0.35969	0.555000	0.69702	AAG		0.552	SAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330126.1	NM_000541		79	57	79	57
TTLL3	26140	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	9870897	9870897	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr3:9870897G>A	ENST00000547186.1	+	10	1588	c.1372G>A	c.(1372-1374)Gtg>Atg	p.V458M	TTLL3_ENST00000397241.1_Missense_Mutation_p.V246M|TTLL3_ENST00000455274.1_Missense_Mutation_p.V246M|TTLL3_ENST00000383827.1_Missense_Mutation_p.V246M|TTLL3_ENST00000426895.4_Missense_Mutation_p.V601M|TTLL3_ENST00000430793.1_Missense_Mutation_p.V246M|ARPC4-TTLL3_ENST00000397256.1_Missense_Mutation_p.V519M|TTLL3_ENST00000427853.3_Missense_Mutation_p.V246M|TTLL3_ENST00000466245.1_3'UTR	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	458	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					CGCTGACTTCGTGTTCGGGGA	0.617																																																0													97.0	78.0	84.0					3																	9870897		2203	4300	6503	SO:0001583	missense	26140				CCDS43048.1, CCDS43048.2	3p25.3	2013-02-14			ENSG00000214021	ENSG00000214021		"""Tubulin tyrosine ligase-like family"""	24483	protein-coding gene	gene with protein product						11054573	Standard	NR_037162		Approved	DKFZP434B103, HOTTL	uc003btg.4	Q9Y4R7	OTTHUMG00000128439	ENST00000547186.1:c.1372G>A	3.37:g.9870897G>A	ENSP00000446659:p.Val458Met		Q4KMS8|Q6AWA3|Q6ZU95|Q8NDN8|Q96GG8|Q9H876|Q9UI99	Missense_Mutation	SNP	ENST00000547186.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.987|0.987	-0.695301|-0.695301	0.03303|0.03303	.|.	.|.	ENSG00000214021|ENSG00000250151;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021	ENST00000310252|ENST00000397256;ENST00000426895;ENST00000547186;ENST00000397241;ENST00000427853;ENST00000443148;ENST00000383827;ENST00000455274;ENST00000430793	.|T;T;T;T;T;T;T;T;T	.|0.04551	.|3.6;3.6;3.6;3.6;3.6;3.6;3.6;3.6;3.6	4.93|4.93	3.09|3.09	0.35607|0.35607	.|.	.|0.126229	.|0.50627	.|U	.|0.000117	T|T	0.00875|0.00875	0.0029|0.0029	N|N	0.00260|0.00260	-1.75|-1.75	0.34618|0.34618	D|D	0.718343|0.718343	.|B;B;B;B;P;B	.|0.34800	.|0.04;0.088;0.136;0.107;0.469;0.081	.|B;B;B;B;B;B	.|0.28139	.|0.072;0.012;0.043;0.035;0.086;0.044	T|T	0.39057|0.39057	-0.9632|-0.9632	5|10	.|0.02654	.|T	.|1	.|.	6.0674|6.0674	0.19871|0.19871	0.1582:0.3062:0.5356:0.0|0.1582:0.3062:0.5356:0.0	.|.	.|397;246;246;458;519;246	.|B4DM47;Q9Y4R7-2;Q9Y4R7-5;Q9Y4R7;E7ETI0;C9JSD3	.|.;.;.;TTLL3_HUMAN;.;.	H|M	413|519;601;458;246;246;396;246;246;246	.|ENSP00000380427:V519M;ENSP00000392549:V601M;ENSP00000446659:V458M;ENSP00000380416:V246M;ENSP00000394462:V246M;ENSP00000398097:V396M;ENSP00000373338:V246M;ENSP00000409632:V246M;ENSP00000403874:V246M	.|ENSP00000380416:V246M	R|V	+|+	2|1	0|0	TTLL3|ARPC4-TTLL3;TTLL3	9845897|9845897	0.491000|0.491000	0.26019|0.26019	0.998000|0.998000	0.56505|0.56505	0.781000|0.781000	0.44180|0.44180	0.858000|0.858000	0.27845|0.27845	1.043000|1.043000	0.40175|0.40175	0.563000|0.563000	0.77884|0.77884	CGT|GTG		0.617	TTLL3-203	KNOWN	basic	protein_coding	protein_coding		NM_001025930.2		33	23	33	23
ZNF654	55279	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	88189554	88189554	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr3:88189554T>C	ENST00000309495.5	+	1	1301	c.1094T>C	c.(1093-1095)gTt>gCt	p.V365A	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	365					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		AGTCTGCCAGTTTCTACTAGC	0.358																																																0													37.0	35.0	36.0					3																	88189554		1832	4084	5916	SO:0001583	missense	55279			AF543494	CCDS46874.1	3p11.1	2005-01-10			ENSG00000175105	ENSG00000175105			25612	protein-coding gene	gene with protein product							Standard	NM_018293		Approved	FLJ10997, FLJ21142	uc003dqv.3	Q8IZM8	OTTHUMG00000159097	ENST00000309495.5:c.1094T>C	3.37:g.88189554T>C	ENSP00000312141:p.Val365Ala		Q9H791|Q9NV14	Missense_Mutation	SNP	ENST00000309495.5	37	CCDS46874.1	.	.	.	.	.	.	.	.	.	.	T	15.50	2.852770	0.51270	.	.	ENSG00000175105	ENST00000309495	T	0.11063	2.81	5.53	5.53	0.82687	.	.	.	.	.	T	0.10551	0.0258	L	0.47716	1.5	0.35643	D	0.811143	P	0.39665	0.682	B	0.35182	0.197	T	0.28554	-1.0040	9	0.15952	T	0.53	.	14.83	0.70139	0.0:0.0:0.0:1.0	.	365	Q8IZM8	ZN654_HUMAN	A	365	ENSP00000312141:V365A	ENSP00000312141:V365A	V	+	2	0	ZNF654	88272244	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.395000	0.52558	2.088000	0.63022	0.533000	0.62120	GTT		0.358	ZNF654-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353285.2	NM_018293		6	17	6	17
SLC2A9	56606	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	9987317	9987317	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr4:9987317G>A	ENST00000264784.3	-	4	564	c.511C>T	c.(511-513)Cgc>Tgc	p.R171C	SLC2A9_ENST00000506583.1_Missense_Mutation_p.R142C|SLC2A9_ENST00000309065.3_Missense_Mutation_p.R142C	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	171			R -> C (in RHUC2; markedly reduced urate transport activity). {ECO:0000269|PubMed:21810765}.		glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	ATGATGAAGCGTCCCACGATG	0.517																																																0													82.0	78.0	79.0					4																	9987317		2203	4300	6503	SO:0001583	missense	56606			AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"""Solute carriers"""	13446	protein-coding gene	gene with protein product	"""urate voltage-driven efflux transporter 1"""	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000264784.3:c.511C>T	4.37:g.9987317G>A	ENSP00000264784:p.Arg171Cys		Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Missense_Mutation	SNP	ENST00000264784.3	37	CCDS3407.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.566443	0.65651	.	.	ENSG00000109667	ENST00000506583;ENST00000264784;ENST00000309065;ENST00000513129	D;D;D;D	0.90261	-2.64;-2.64;-2.64;-2.64	5.47	4.63	0.57726	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.96337	0.8805	H	0.94306	3.52	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96816	0.9600	9	.	.	.	.	12.3539	0.55163	0.0826:0.0:0.9174:0.0	.	142;171	Q9NRM0-2;Q9NRM0	.;GTR9_HUMAN	C	142;171;142;142	ENSP00000422209:R142C;ENSP00000264784:R171C;ENSP00000311383:R142C;ENSP00000426800:R142C	.	R	-	1	0	SLC2A9	9596415	1.000000	0.71417	0.900000	0.35374	0.236000	0.25371	4.675000	0.61619	1.315000	0.45114	-0.198000	0.12761	CGC		0.517	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207055.1			12	34	12	34
MUC7	4589	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	71347534	71347534	+	Missense_Mutation	SNP	G	G	A	rs145866670	byFrequency	TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr4:71347534G>A	ENST00000304887.5	+	3	1263	c.1073G>A	c.(1072-1074)cGa>cAa	p.R358Q	MUC7_ENST00000413702.1_Missense_Mutation_p.R358Q|MUC7_ENST00000456088.1_Missense_Mutation_p.R358Q	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	358					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			AAAATTTCTCGATTTCTTTTA	0.358													G|||	2	0.000399361	0.0008	0.0	5008	,	,		20675	0.0		0.001	False		,,,				2504	0.0															0								G	GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	64.0	71.0	69.0		1073,1073,1073	-2.5	0.0	4	dbSNP_134	69	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	MUC7	NM_001145006.1,NM_001145007.1,NM_152291.2	43,43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	358/378,358/378,358/378	71347534	1,13005	2203	4300	6503	SO:0001583	missense	4589			BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.1073G>A	4.37:g.71347534G>A	ENSP00000302021:p.Arg358Gln		Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	CCDS3541.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	13.35	2.209655	0.39003	0.0	1.16E-4	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.55234	0.53;0.53;0.53	2.81	-2.46	0.06461	.	.	.	.	.	T	0.31263	0.0791	N	0.24115	0.695	0.09310	N	1	B	0.23735	0.09	B	0.13407	0.009	T	0.16630	-1.0396	8	.	.	.	0.0857	7.5652	0.27874	0.4291:0.0:0.5709:0.0	.	358	Q8TAX7	MUC7_HUMAN	Q	358	ENSP00000407422:R358Q;ENSP00000400585:R358Q;ENSP00000302021:R358Q	.	R	+	2	0	MUC7	71382123	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.460000	0.06720	-0.542000	0.06249	-0.806000	0.03193	CGA		0.358	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		14	24	14	24
FRAS1	80144	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	79387412	79387412	+	Silent	SNP	C	C	T			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr4:79387412C>T	ENST00000264895.6	+	50	7520	c.7080C>T	c.(7078-7080)atC>atT	p.I2360I		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2360					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ATGGCACCATCGAGCGAACCA	0.547																																																0													96.0	96.0	96.0					4																	79387412		2175	4275	6450	SO:0001819	synonymous_variant	80144			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.7080C>T	4.37:g.79387412C>T			A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000264895.6	37	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	C	1.913	-0.450240	0.04572	.	.	ENSG00000138759	ENST00000512123	.	.	.	5.53	-5.96	0.02234	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.1798	0.54206	0.0:0.3761:0.0787:0.5452	.	.	.	.	X	589	.	.	R	+	1	2	FRAS1	79606436	0.000000	0.05858	0.732000	0.30844	0.161000	0.22273	-2.473000	0.00988	-1.252000	0.02491	-1.099000	0.02127	CGA		0.547	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				33	69	33	69
SLC6A19	340024	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	1217005	1217005	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr5:1217005C>T	ENST00000304460.10	+	8	1174	c.1118C>T	c.(1117-1119)gCg>gTg	p.A373V		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	373					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)	p.A373V(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TCCGACCCCGCGGCCTACGCG	0.622																																																1	Substitution - Missense(1)	endometrium(1)											160.0	150.0	154.0					5																	1217005		2203	4300	6503	SO:0001583	missense	340024			AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"""Solute carriers"""	27960	protein-coding gene	gene with protein product	"""Hartnup disease"""	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.1118C>T	5.37:g.1217005C>T	ENSP00000305302:p.Ala373Val		A8K446	Missense_Mutation	SNP	ENST00000304460.10	37	CCDS34130.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.814043	0.32053	.	.	ENSG00000174358	ENST00000304460	T	0.74315	-0.83	4.85	-3.95	0.04118	.	1.876320	0.02993	N	0.147070	T	0.52901	0.1763	N	0.11756	0.17	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.33007	-0.9885	10	0.30854	T	0.27	.	4.6241	0.12470	0.4192:0.3016:0.0:0.2792	.	373	Q695T7	S6A19_HUMAN	V	373	ENSP00000305302:A373V	ENSP00000305302:A373V	A	+	2	0	SLC6A19	1270005	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-4.432000	0.00235	-0.753000	0.04721	0.491000	0.48974	GCG		0.622	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1	XM_291120		62	157	62	157
ADAMTS16	170690	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	5222929	5222929	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr5:5222929C>T	ENST00000274181.7	+	11	1771	c.1633C>T	c.(1633-1635)Cgt>Tgt	p.R545C	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.R545C	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	545	Disintegrin.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GTGGTGCCATCGTATTGGAAG	0.368																																																0													123.0	115.0	118.0					5																	5222929		1937	4138	6075	SO:0001583	missense	170690			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.1633C>T	5.37:g.5222929C>T	ENSP00000274181:p.Arg545Cys		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.799034	0.70567	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	T;T	0.63580	0.05;-0.05	5.51	4.61	0.57282	.	0.067687	0.64402	D	0.000019	T	0.78648	0.4316	M	0.83223	2.63	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	P;D;D	0.79108	0.886;0.992;0.97	T	0.79678	-0.1703	10	0.48119	T	0.1	.	12.5915	0.56445	0.2924:0.7076:0.0:0.0	.	545;545;545	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	C	545	ENSP00000274181:R545C;ENSP00000421631:R545C	ENSP00000274181:R545C	R	+	1	0	ADAMTS16	5275929	0.955000	0.32602	0.932000	0.37286	0.867000	0.49689	1.238000	0.32707	2.579000	0.87056	0.655000	0.94253	CGT		0.368	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		19	26	19	26
PCDHA1	56147	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	140166983	140166983	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr5:140166983G>A	ENST00000504120.2	+	1	1108	c.1108G>A	c.(1108-1110)Gcc>Acc	p.A370T	PCDHA1_ENST00000378133.3_Missense_Mutation_p.A370T|PCDHA1_ENST00000394633.3_Missense_Mutation_p.A370T	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	370	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCGTCATCGCCCTCATCAC	0.527																																																0													111.0	98.0	103.0					5																	140166983		2203	4300	6503	SO:0001583	missense	56147			AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1108G>A	5.37:g.140166983G>A	ENSP00000420840:p.Ala370Thr		O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	g	12.62	1.993979	0.35131	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.01804	4.63;4.63;4.63	4.06	3.18	0.36537	Cadherin (3);Cadherin-like (1);	0.000000	0.42682	U	0.000666	T	0.07548	0.0190	M	0.66939	2.045	0.25887	N	0.983528	D;D;D	0.69078	0.995;0.986;0.997	D;P;D	0.67231	0.95;0.586;0.914	T	0.02411	-1.1163	10	0.59425	D	0.04	.	12.1093	0.53830	0.0861:0.0:0.9139:0.0	.	370;370;370	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	T	370	ENSP00000420840:A370T;ENSP00000378129:A370T;ENSP00000367373:A370T	ENSP00000367373:A370T	A	+	1	0	PCDHA1	140147167	1.000000	0.71417	0.008000	0.14137	0.006000	0.05464	7.923000	0.87546	0.834000	0.34852	-0.263000	0.10527	GCC		0.527	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		14	53	14	53
GABRA6	2559	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	161113291	161113291	+	Missense_Mutation	SNP	G	G	A	rs200373173	byFrequency	TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr5:161113291G>A	ENST00000274545.5	+	2	527	c.94G>A	c.(94-96)Gtc>Atc	p.V32I	GABRA6_ENST00000522269.1_3'UTR|GABRA6_ENST00000523217.1_Missense_Mutation_p.V32I|RP11-348M17.2_ENST00000521984.1_RNA			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	32					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	CTCAGAAAACGTCAGTCGGAT	0.488										TCGA Ovarian(5;0.080)			G|||	2	0.000399361	0.0	0.0014	5008	,	,		20902	0.0		0.0	False		,,,				2504	0.001															0								G	ILE/VAL	0,4406		0,0,2203	109.0	110.0	110.0		94	1.2	0.4	5		110	1,8599	1.2+/-3.3	0,1,4299	no	missense	GABRA6	NM_000811.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	32/454	161113291	1,13005	2203	4300	6503	SO:0001583	missense	2559				CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.94G>A	5.37:g.161113291G>A	ENSP00000274545:p.Val32Ile		A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	CCDS4356.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	0.653	-0.808800	0.02819	0.0	1.16E-4	ENSG00000145863	ENST00000274545;ENST00000523217	T;T	0.77489	-1.1;-1.1	5.63	1.24	0.21308	Neurotransmitter-gated ion-channel ligand-binding (2);	0.149182	0.64402	N	0.000017	T	0.48589	0.1508	N	0.02802	-0.49	0.25661	N	0.986003	B	0.02656	0.0	B	0.04013	0.001	T	0.33777	-0.9855	10	0.15952	T	0.53	.	8.5345	0.33355	0.7172:0.0:0.2828:0.0	.	32	Q16445	GBRA6_HUMAN	I	32	ENSP00000274545:V32I;ENSP00000430527:V32I	ENSP00000274545:V32I	V	+	1	0	GABRA6	161045869	0.406000	0.25344	0.390000	0.26220	0.354000	0.29330	0.911000	0.28584	0.008000	0.14787	-0.290000	0.09829	GTC		0.488	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			29	38	29	38
OR2V2	285659	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	180582042	180582042	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr5:180582042G>A	ENST00000328275.1	+	1	100	c.100G>A	c.(100-102)Gcg>Acg	p.A34T		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	34			A -> V (in dbSNP:rs17617270).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGTGGTTATGGCGGTCTTCAC	0.537																																																0													250.0	206.0	221.0					5																	180582042		2203	4300	6503	SO:0001583	missense	285659			AL161615	CCDS4461.1	5q35.3	2012-08-09			ENSG00000182613	ENSG00000182613		"""GPCR / Class A : Olfactory receptors"""	15341	protein-coding gene	gene with protein product				OR2V3			Standard	NM_206880		Approved	OST713	uc011dhj.2	Q96R30	OTTHUMG00000130933	ENST00000328275.1:c.100G>A	5.37:g.180582042G>A	ENSP00000332185:p.Ala34Thr		Q6IFL6|Q8NGV1	Missense_Mutation	SNP	ENST00000328275.1	37	CCDS4461.1	.	.	.	.	.	.	.	.	.	.	.	0.025	-1.378498	0.01204	.	.	ENSG00000182613	ENST00000328275	T	0.00216	8.53	3.38	-1.95	0.07548	.	1.344130	0.05476	N	0.554022	T	0.00109	0.0003	N	0.11284	0.12	0.09310	N	1	B	0.23937	0.094	B	0.14023	0.01	T	0.03933	-1.0991	10	0.34782	T	0.22	.	5.0385	0.14447	0.5753:0.1855:0.2392:0.0	.	34	Q96R30	OR2V2_HUMAN	T	34	ENSP00000332185:A34T	ENSP00000332185:A34T	A	+	1	0	OR2V2	180514648	0.000000	0.05858	0.004000	0.12327	0.023000	0.10783	-2.550000	0.00929	-0.341000	0.08376	0.305000	0.20034	GCG		0.537	OR2V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253529.1			41	106	41	106
SOX4	6659	hgsc.bcm.edu;broad.mit.edu	37	6	21594838	21594838	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr6:21594838G>T	ENST00000244745.1	+	1	867	c.73G>T	c.(73-75)Ggc>Tgc	p.G25C	SOX4_ENST00000543472.1_Missense_Mutation_p.G25C	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	25					ascending aorta morphogenesis (GO:0035910)|atrial septum primum morphogenesis (GO:0003289)|canonical Wnt signaling pathway (GO:0060070)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle formation (GO:0003211)|cellular response to glucose stimulus (GO:0071333)|DNA damage response, detection of DNA damage (GO:0042769)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endocrine pancreas development (GO:0031018)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|kidney morphogenesis (GO:0060993)|limb bud formation (GO:0060174)|mitral valve morphogenesis (GO:0003183)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein ubiquitination (GO:0031397)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|noradrenergic neuron differentiation (GO:0003357)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin secretion (GO:0032024)|positive regulation of N-terminal peptidyl-lysine acetylation (GO:2000761)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|positive regulation of Wnt signaling pathway (GO:0030177)|pro-B cell differentiation (GO:0002328)|protein stabilization (GO:0050821)|regulation of protein stability (GO:0031647)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spinal cord development (GO:0021510)|spinal cord motor neuron differentiation (GO:0021522)|sympathetic nervous system development (GO:0048485)|T cell differentiation (GO:0030217)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			CTCGGGCGCCGGCCTCGAGCT	0.731																																																0													9.0	11.0	10.0					6																	21594838		2174	4249	6423	SO:0001583	missense	6659			AF070669	CCDS4547.1	6p22.3	2008-02-05			ENSG00000124766	ENSG00000124766		"""SRY (sex determining region Y)-boxes"""	11200	protein-coding gene	gene with protein product		184430				8268656, 9730625	Standard	NM_003107		Approved		uc003ndi.3	Q06945	OTTHUMG00000016101	ENST00000244745.1:c.73G>T	6.37:g.21594838G>T	ENSP00000244745:p.Gly25Cys			Missense_Mutation	SNP	ENST00000244745.1	37	CCDS4547.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.091541	0.36952	.	.	ENSG00000124766	ENST00000244745;ENST00000543472	D;D	0.98028	-4.67;-4.67	5.12	2.95	0.34219	.	0.279938	0.29106	U	0.013124	D	0.91321	0.7263	L	0.34521	1.04	0.39716	D	0.971399	B	0.18610	0.029	B	0.18561	0.022	D	0.89024	0.3437	10	0.46703	T	0.11	.	9.9044	0.41366	0.088:0.0:0.7688:0.1432	.	25	Q06945	SOX4_HUMAN	C	25	ENSP00000244745:G25C;ENSP00000438412:G25C	ENSP00000244745:G25C	G	+	1	0	SOX4	21702817	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.206000	0.77891	1.122000	0.41944	0.555000	0.69702	GGC		0.731	SOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043301.1	NM_003107		4	20	4	20
MICB	4277	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	31473467	31473467	+	Silent	SNP	G	G	A			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr6:31473467G>A	ENST00000252229.6	+	2	223	c.144G>A	c.(142-144)gaG>gaA	p.E48E	MICB_ENST00000399150.3_Silent_p.E48E|MICB_ENST00000538442.1_Silent_p.E16E	NM_005931.3	NP_005922.2			MHC class I polypeptide-related sequence B											NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						TTCTCGCTGAGGGACATCTGG	0.557																																																0													97.0	100.0	99.0					6																	31473467		1290	2566	3856	SO:0001819	synonymous_variant	4277				CCDS43449.1, CCDS75422.1, CCDS75423.1	6p21.3	2013-01-11			ENSG00000204516	ENSG00000204516		"""Immunoglobulin superfamily / C1-set domain containing"""	7091	protein-coding gene	gene with protein product		602436				8022771	Standard	NM_005931		Approved	PERB11.2	uc003ntn.4	Q29980	OTTHUMG00000031074	ENST00000252229.6:c.144G>A	6.37:g.31473467G>A				Silent	SNP	ENST00000252229.6	37	CCDS43449.1																																																																																				0.557	MICB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076102.3	NM_005931		29	22	29	22
PKD1L1	168507	hgsc.bcm.edu;broad.mit.edu	37	7	47851503	47851503	+	Missense_Mutation	SNP	G	G	A	rs367611487	byFrequency	TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr7:47851503G>A	ENST00000289672.2	-	50	7543	c.7493C>T	c.(7492-7494)aCg>aTg	p.T2498M	C7orf69_ENST00000258776.4_Intron|PKD1L1_ENST00000462350.1_5'Flank|C7orf69_ENST00000418326.2_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2498					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GAGACTCCCCGTAGGGAGGAT	0.582													G|||	3	0.000599042	0.0015	0.0	5008	,	,		20360	0.0		0.001	False		,,,				2504	0.0															0								G	,MET/THR	1,4405	2.1+/-5.4	0,1,2202	63.0	51.0	55.0		,7493	2.7	0.0	7		55	0,8600		0,0,4300	no	intron,missense	C7orf69,PKD1L1	NM_025031.2,NM_138295.3	,81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,probably-damaging	,2498/2850	47851503	1,13005	2203	4300	6503	SO:0001583	missense	168507			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.7493C>T	7.37:g.47851503G>A	ENSP00000289672:p.Thr2498Met		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.815722	0.32145	2.27E-4	0.0	ENSG00000158683	ENST00000289672	T	0.70986	-0.53	5.49	2.66	0.31614	Polycystin cation channel, PKD1/PKD2 (1);	1.531340	0.04372	N	0.359293	T	0.70666	0.3250	L	0.39147	1.195	0.09310	N	0.999998	D	0.63880	0.993	P	0.51355	0.667	T	0.53920	-0.8370	10	0.52906	T	0.07	-0.1852	6.2155	0.20653	0.1631:0.0:0.6866:0.1503	.	2498	Q8TDX9	PK1L1_HUMAN	M	2498	ENSP00000289672:T2498M	ENSP00000289672:T2498M	T	-	2	0	PKD1L1	47818028	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	0.492000	0.22435	0.261000	0.21753	0.453000	0.30009	ACG		0.582	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		7	22	7	22
RP1L1	94137	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	10470654	10470654	+	Silent	SNP	G	G	A	rs200317816	byFrequency	TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr8:10470654G>A	ENST00000382483.3	-	4	1177	c.954C>T	c.(952-954)gaC>gaT	p.D318D		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	318					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		ACAGGCTGCCGTCCTCATTCA	0.662													G|||	39	0.00778754	0.0	0.0	5008	,	,		16661	0.0		0.0	False		,,,				2504	0.0399															0								G		0,4274		0,0,2137	84.0	93.0	90.0		954	-10.9	0.2	8		90	3,8481		0,3,4239	no	coding-synonymous	RP1L1	NM_178857.5		0,3,6376	AA,AG,GG		0.0354,0.0,0.0235		318/2401	10470654	3,12755	2137	4242	6379	SO:0001819	synonymous_variant	94137			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.954C>T	8.37:g.10470654G>A			Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	37	CCDS43708.1																																																																																				0.662	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			57	52	57	52
ATF4P4	100127952	broad.mit.edu;ucsc.edu	37	11	113659993	113659993	+	RNA	SNP	A	A	C	rs906846	byFrequency	TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr11:113659993A>C	ENST00000393544.2	+	0	41									activating transcription factor 4 pseudogene 4																		GGCAGCATGTAGGTTGCAGGG	0.657													C|||	2453	0.489816	0.5514	0.4669	5008	,	,		13443	0.5804		0.4185	False		,,,				2504	0.4029															0																																												100127952					11q23.2	2011-09-02	2010-12-16	2010-12-16	ENSG00000256167	ENSG00000256167			787	pseudogene	pseudogene			"""activating transcription factor 4B"""	ATF4B		10610718	Standard	NG_021835		Approved				OTTHUMG00000168194		11.37:g.113659993A>C				RNA	SNP	ENST00000393544.2	37																																																																																					0.657	ATF4P4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000398707.1	NG_021835		3	26	3	26
HRG	3273	broad.mit.edu;ucsc.edu	37	3	186383868	186383868	+	Silent	SNP	G	G	A	rs183341869		TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr3:186383868G>A	ENST00000232003.4	+	1	128	c.48G>A	c.(46-48)tcG>tcA	p.S16S	RP11-134F2.2_ENST00000455926.1_RNA|HRG_ENST00000468154.1_3'UTR|RP11-134F2.2_ENST00000428501.1_RNA	NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	16					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|defense response to fungus (GO:0050832)|fibrinolysis (GO:0042730)|heme export (GO:0097037)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel remodeling (GO:2000504)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of immune response to tumor cell (GO:0002839)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet activation (GO:0010543)|regulation of protein complex assembly (GO:0043254)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|response to organic cyclic compound (GO:0014070)	blood microparticle (GO:0072562)|endolysosome (GO:0036019)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|phagolysosome membrane (GO:0061474)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heme binding (GO:0020037)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|immunoglobulin binding (GO:0019865)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		TGCAGTATTCGTGTGCCGTGA	0.468													G|||	1	0.000199681	0.0	0.0	5008	,	,		19920	0.001		0.0	False		,,,				2504	0.0															0													118.0	103.0	108.0					3																	186383868		2203	4300	6503	SO:0001819	synonymous_variant	3273				CCDS3280.1	3q27	2008-07-18			ENSG00000113905	ENSG00000113905			5181	protein-coding gene	gene with protein product	"""histidine-proline rich glycoprotein"", ""thrombophilia due to elevated HRG"""	142640				1678514	Standard	NM_000412		Approved	HRGP, HPRG	uc003fqq.3	P04196	OTTHUMG00000156578	ENST00000232003.4:c.48G>A	3.37:g.186383868G>A			B9EK35|D3DNU7	Silent	SNP	ENST00000232003.4	37	CCDS3280.1																																																																																				0.468	HRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344655.1	NM_000412		12	42	12	42
BEST2	54831	broad.mit.edu;ucsc.edu	37	19	12866569	12866569	+	Silent	SNP	C	C	T	rs200165904	byFrequency	TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr19:12866569C>T	ENST00000549706.1	+	7	1179	c.855C>T	c.(853-855)gcC>gcT	p.A285A	BEST2_ENST00000042931.1_Silent_p.A285A|BEST2_ENST00000553030.1_Silent_p.A285A			Q8NFU1	BEST2_HUMAN	bestrophin 2	285					chloride transmembrane transport (GO:1902476)|membrane depolarization (GO:0051899)|sensory perception of smell (GO:0007608)	chloride channel complex (GO:0034707)|cilium (GO:0005929)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						TCTTCTACGCCGGCTGGCTCA	0.582													C|||	10	0.00199681	0.0076	0.0	5008	,	,		16222	0.0		0.0	False		,,,				2504	0.0															0								C		8,4104		0,8,2048	79.0	83.0	81.0		855	-8.7	0.0	19		81	0,8430		0,0,4215	no	coding-synonymous	BEST2	NM_017682.2		0,8,6263	TT,TC,CC		0.0,0.1946,0.0638		285/510	12866569	8,12534	2056	4215	6271	SO:0001819	synonymous_variant	54831			AF440756	CCDS42506.1	19p13.13	2014-08-12	2006-10-18	2006-10-18	ENSG00000039987	ENSG00000039987		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17107	protein-coding gene	gene with protein product		607335	"""vitelliform macular dystrophy 2-like 1"""	VMD2L1		12032738, 16912113	Standard	NM_017682		Approved	FLJ20132	uc002mux.3	Q8NFU1	OTTHUMG00000169293	ENST00000549706.1:c.855C>T	19.37:g.12866569C>T			Q53YQ8|Q9NXP0	Silent	SNP	ENST00000549706.1	37	CCDS42506.1																																																																																				0.582	BEST2-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403343.1	NM_017682		3	32	3	32
NF1	4763	broad.mit.edu;hgsc.bcm.edu	37	17	29527568	29527569	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr17:29527568_29527569delCT	ENST00000358273.4	+	9	1400_1401	c.1017_1018delCT	c.(1015-1020)aactctfs	p.S340fs	NF1_ENST00000431387.4_Frame_Shift_Del_p.S340fs|NF1_ENST00000356175.3_Frame_Shift_Del_p.S340fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	340					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(6)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GGGAAGATAACTCTGTCATTTT	0.381			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	14	Whole gene deletion(8)|Unknown(6)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(3)|lung(1)	GRCh37	CI032771|CI064710	NF1	I																																				SO:0001589	frameshift_variant	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.1017_1018delCT	17.37:g.29527570_29527571delCT	ENSP00000351015:p.Ser340fs		O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	37	CCDS42292.1																																																																																				0.381	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		17	8	17	8
